A novel homozygous c.67C>T variant in retinol binding protein 4 (RBP4) associated with retinitis pigmentosa and childhood acne vulgaris
PMID: 32323592
1,647 Matching Annotations
- Oct 2026
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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www.jbc.org www.jbc.org
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The Function of Guanylate Cyclase 1 and Guanylate Cyclase 2 in Rod and Cone Photoreceptors
PMID: 17255100
Gene: GUCY2D
HGNC: 4689
Disease: Leber congenital amaurosis 1
MONDO: 0008764
InheritancePattern: Autosomal Recessive
Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by GUCY2D variants is between 10% and 20% (PMID: 10951519). Thus, the prevalence of Leber congenital amaurosis 1 is between 1 in 165,000 and 1 in 1,000,000.
Penetrance: Fully penetrant, with onset in neonates or in infancy
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Dominant mutations in RP1L1 are responsible for occult macular dystrophy
PMID: 20826268
Gene: RP1L1
HGNC: 15946
Disease: occult macular dystrophy
MONDO: 0013316
InheritancePattern: autosomal dominant
Prevalence: The prevalence of occult macular dystrophy is "significantly less than one in 10,000 or 100,000 (https://www.reviewofoptometry.com/article/the-best-is-yet-to-come-feb).
Penetrance: The disease is known to be incompletely penetrant in family members carrying the heterozygous p.Arg45Trp variant (PMID: 20826268).
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Identification of a homozygous BBS7 frameshift mutation in two (related) Chinese Miao families with Bardet-Biedl Syndrome
PMID: 30839500
Gene: BBS7
HGNC: 18758
Disease: Bardet-Biedl syndrome 7
MONDO: 0014435
InheritancePattern: autosomal recessive
Prevalence: The prevalence of BBS7 variants among Bardet-Biedl syndrome cohorts has been reported at 4.2% (PMID: 19402160), while the prevalence of Bardet-Biedl syndrome overall has been estimated between 1 in 13,500 and 1 in 160,000 live births, depending on the population (PMID: 22713813).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.
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journals.plos.org journals.plos.org
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Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome
PMID: 24009529
Gene: IFT140
HGNC: 29077
Disease: Short-rib thoracic dysplasia 9 with or without polydactyly
MONDO: 0009964
InheritancePattern: autosomal recessive
Prevalence: Within the lumped disease entity for this curation, the most prevalent form may be retinitis pigmentosa. The prevalence of Saldino-Mainzer syndrome (one of the synonyms of Short-rib thoracic dysplasia 9) is less than 1 in 1,000,000. The prevalence of Leber congenital amaurosis cases caused by IFT140 variants (PMID: 26216056) is calculated to be less than 1 in 3,000,000. Although IFT140 variants are estimated to be responsible for less than 2% of RP, the prevalence of the overall disorder at 1 in 3,000 or 1 in 4,000 means the frequency of these cases could potentially be higher than 1 in 1,000,000.
Penetrance: Known variants for this lumped disease entity appear to be completely penetrant, with highly variable phenotypes and age of onset. On the other hand, the split disease entity caused by monoallelic IFT140 variants appears to have incomplete penetrance.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Clinical and whole exome sequencing findings in children from Yunnan Yi minority ethnic group with retinitis pigmentosa: two case reports
PMID: 37264419
Gene: PRPF4
HGNC: 17349
Disease: retinitis pigmentosa 70
MONDO: 0014400
InheritancePattern: autosomal dominant
Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a dominant mode of inheritance is estimated to be 15-35% (between 1 in 8,500 and 1 in 27,000). The proportion of that incidence made up by the specific form caused by variants in PRPF4 is not clear.
Penetrance: Known disease-causing alleles appear to be incompletely penetrant (PMID: 25383878).
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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IMPG2-associated retinitis pigmentosa displays relatively early macular involvement
PMID: 24876279
Gene: IMPG2
HGNC: 18362
Disease: retinitis pigmentosa 56
MONDO: 0013314
InheritancePattern: semi-dominant
Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections
PMID: 12920075
Gene: RPGR
HGNC: 10295
Disease: RPGR-related retinopathy
MONDO: MONDO:0100437
InheritancePattern: X-linked
Prevalence: The prevalence of RPGR-related retinopathy is calculated to be approximately 1 in 214,000, based on the known incidence of retinitis pigmentosa at 1 in 3,000, the proportion of retinitis pigmentposa that is X-linked at 20%, and the proportion of X-linked retinitis pigmentosa that is RPGR-associated at 70% (PMID: 34985506).
Penetrance: Penetrance is nearly 100% in hemizygous males but is incomplete and dependent upon the variant in heterozygous female carriers.
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations
PMID: 20052765
Gene: CLN5
HGNC: 2076
Disease: Ceroid lipofuscinosis, neuronal, 5 (also known as Finnish variant late infantile neuronal ceroid lipofuscinosis, neuronal ceroid lipofuscinosis late infantile Finnish variant, or Finnish vLINCL)
MONDO: 0009745
InheritancePattern: Autosomal Recessive
Prevalence: Unknown, but part of a larger group of NCL disorders with a collective prevalence between 1 in 12,500 (PMID:9662406) and 1 in 100,000 (PMID:23374165)
Penetrance: Fully penetrant, with onset often in the late infantile period but in some cases during early adulthood or even as late as in the 6th decade of life
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link.springer.com link.springer.com
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GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone–rod dystrophies
PMID: 26298565
Gene: GUCY2D
HGNC: 4689
Disease: Cone-rod dystrophy 6
MONDO: 0011143
InheritancePattern: Autosomal Dominant
Prevalence: The overall prevalence of cone-rod dystrophy is between 1 in 30,000 and 1 in 40,000 (PMID: 17270046), while the proportion of cone-rod dystrophy caused by GUCY2D variants is between 19% and 23% (PMID: 22183351, PMID: 25515582). Thus, the prevalence of cone-rod dystrophy 6 is between 1 in 130,000 and 1 in 215,000.
Penetrance: Penetrance is age-dependent, with onset between the 1st and 6th decades of life.
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www.sciencedirect.com www.sciencedirect.com
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Extracellular matrix component expression in human pluripotent stem cell-derived retinal organoids recapitulates retinogenesis in vivo and reveals an important role for IMPG1 and CD44 in the development of photoreceptors and interphotoreceptor matrix
PMID: 29777959
Gene: IMPG1
HGNC: 6055
Disease: vitelliform macular dystrophy 4
MONDO: 0014508
InheritancePattern: semi-dominant
Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.
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bjo.bmj.com bjo.bmj.com
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Clinical features of a novel TIMP-3 mutation causing Sorsby's fundus dystrophy: implications for disease mechanism
PMID: 11734514
Gene: TIMP3
HGNC: 11822
Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy
MONDO: 0007640
InheritancePattern: Autosomal Dominant
Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)
Penetrance: Fully penetrant, onset between the third and sixth decades of life
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iovs.arvojournals.org iovs.arvojournals.org
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Cone Photoreceptor Function Loss-3, a Novel Mouse Model of Achromatopsia Due to a Mutation in Gnat2
PMID: 17065522
GeneName: GNAT2
HGNC: 4394
Disease: achromatopsia 4
MonDO ID: MONDO_0013465
Inheritance: autosomal recessive
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www.jneurosci.org www.jneurosci.org
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Disruption of a Retinal Guanylyl Cyclase Gene Leads to Cone-Specific Dystrophy and Paradoxical Rod Behavior
PMID: 10407028
Gene: GUCY2D
HGNC: 4689
Disease: Leber congenital amaurosis 1
MONDO: 0008764
InheritancePattern: Autosomal Recessive
Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by GUCY2D variants is between 10% and 20% (PMID: 10951519). Thus, the prevalence of Leber congenital amaurosis 1 is between 1 in 165,000 and 1 in 1,000,000.
Penetrance: Fully penetrant, with onset in neonates or in infancy
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy
PMID: 27228167
Gene: LRP5
HGNC: 6697
Disease: osteoporosis-pseudoglioma syndrome
MONDO: 0009820
InheritancePattern: autosomal recessive
Prevalence: osteoporosis-pseudoglioma syndrome is estimated to occur in 1 out of every 2,000,000 live births.
Penetrance: The penetrance of the phenotype among homozygous or compound heterozygous cases appears to be complete, while heterozygous carriers of deleterious variants appear to be mildly affected.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13
PMID: 8659519
Gene: LRP5
HGNC: 6697
Disease: osteoporosis-pseudoglioma syndrome
MONDO: 0009820
InheritancePattern: autosomal recessive
Prevalence: osteoporosis-pseudoglioma syndrome is estimated to occur in 1 out of every 2,000,000 live births.
Penetrance: The penetrance of the phenotype among homozygous or compound heterozygous cases appears to be complete, while heterozygous carriers of deleterious variants appear to be mildly affected.
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www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
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Nr2e3-directed transcriptional regulation of genes involved in photoreceptor development and cell-type specific phototransduction
PMID: 19379737
Gene: NR2E3
HGNC: 7974
Disease: enhanced S-cone syndrome
MONDO: 0100288
InheritancePattern: autosomal recessive
Prevalence: The overall prevalence of enhanced S cone syndrome is <1 in 1,000,000 (PMID: 30900587).
Penetrance: The penetrance of enhanced S-cone syndrome has been difficult to determine accurately given the rarity of the condition.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa
PMID: 18836446
Gene: EYS
HGNC: 21555
Disease: Retinitis pigmentosa 25
MONDO: MONDO:0011272
InheritancePattern: autosomal recessive
Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa caused by homozygous or compound heterozygous EYS variants is estimated to be 12% in the French population (PMID: 20333770), implying in an overall prevalence between 1 in 25,000 and 1 in 33,000.
Penetrance: The disease appears to be completely penetrant among published families.
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy
PMID: 40172514
Gene: RP1L1
HGNC: 15946
Disease: occult macular dystrophy
MONDO: 0013316
InheritancePattern: autosomal dominant
Prevalence: The prevalence of occult macular dystrophy is "significantly less than one in 10,000 or 100,000 (https://www.reviewofoptometry.com/article/the-best-is-yet-to-come-feb).
Penetrance: The disease is known to be incompletely penetrant in family members carrying the heterozygous p.Arg45Trp variant (PMID: 20826268).
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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A novel mutation at the N-terminal domain of the TIMP3 gene in Sorsby fundus dystrophy
PMID: 23023527
Gene: TIMP3
HGNC: 11822
Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy
MONDO: 0007640
InheritancePattern: Autosomal Dominant
Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)
Penetrance: Fully penetrant, onset between the third and sixth decades of life
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype
PMID: 32715858
Gene: TIMP3
HGNC: 11822
Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy
MONDO: 0007640
InheritancePattern: Autosomal Dominant
Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)
Penetrance: Fully penetrant, onset between the third and sixth decades of life
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Retinal Development and Pathophysiology in Kcnj13 Knockout Mice
PMID: 35096838
Gene: KCNJ13
HGNC: 6259
Disease: Leber congenital amaurosis 16
MONDO: 0013613
InheritancePattern: autosomal recessive
Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns (PMID: 10951519), while the proportion of Leber congenital amaurosis caused by KCNJ13 variants is unknown.
Penetrance: Known disease-causing alleles appear to be completely penetrant.
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pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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Essential and Synergistic Roles of RP1 and RP1L1 in Rod Photoreceptor Axoneme and Retinitis Pigmentosa
PMID: 19657028
Gene: RP1L1
HGNC: 15946
Disease: occult macular dystrophy
MONDO: 0013316
InheritancePattern: autosomal dominant
Prevalence: The prevalence of occult macular dystrophy is "significantly less than one in 10,000 or 100,000 (https://www.reviewofoptometry.com/article/the-best-is-yet-to-come-feb).
Penetrance: The disease is known to be incompletely penetrant in family members carrying the heterozygous p.Arg45Trp variant (PMID: 20826268).
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www.gimjournal.org www.gimjournal.org
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Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden
PMID: 27124789
Gene: PDE6C
HGNC: 8787
Disease: cone dystrophy 4
MONDO: 0013129
InheritancePattern: recessive
Prevalence: cone dystrophy in general is estimated to have a prevalence of 1 in 40,000 (PMID: 30578485).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation
PMID: 19610097
Gene: GPR143
HGNC: 20145
Disease: X-linked recessive ocular albinism
MONDO: 0021019
InheritancePattern: X-linked recessive
Prevalence: Ocular albinism has an estimated prevalence between 1 in 111,000 and 1 in 1,000,000 live births (PMID: 35495622)
Penetrance: Fully penetrant in males, with onset in infancy. Most female carriers appear to be unaffected.
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illiad.lib.unc.edu illiad.lib.unc.edu
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Mutation spectrum and clinical investigation ofachromatopsia patients with mutations in the GNAT2 gene
PMID: 31058429
GeneName: GNAT2
HGNC: 4394
Disease: achromatopsia 4
MonDO ID: MONDO_0013465
Inheritance: autosomal recessive
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Ocular albinism: evidence for a defect in an intracellular signal transduction system
PMID: 10471510
Gene: GPR143
HGNC: 20145
Disease: X-linked recessive ocular albinism
MONDO: 0021019
InheritancePattern: X-linked recessive
Prevalence: Ocular albinism has an estimated prevalence between 1 in 111,000 and 1 in 1,000,000 live births (PMID: 35495622)
Penetrance: Fully penetrant in males, with onset in infancy. Most female carriers appear to be unaffected.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Characterization of Human Cone Phosphodiesterase-6 Ectopically Expressed in Xenopus laevis Rods
PMID: 19801642
Gene: PDE6C
HGNC: 8787
Disease: cone dystrophy 4
MONDO: 0013129
InheritancePattern: recessive
Prevalence: cone dystrophy in general is estimated to have a prevalence of 1 in 40,000 (PMID: 30578485).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.
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iovs.arvojournals.org iovs.arvojournals.org
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Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes
PMID: 25766588
Gene: TIMP3
HGNC: 11822
Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy
MONDO: 0007640
InheritancePattern: Autosomal Dominant
Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)
Penetrance: Fully penetrant, onset between the third and sixth decades of life
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies
PMID: 27203721
Gene: CLN5
HGNC: 2076
Disease: Ceroid lipofuscinosis, neuronal, 5 (also known as Finnish variant late infantile neuronal ceroid lipofuscinosis, neuronal ceroid lipofuscinosis late infantile Finnish variant, or Finnish vLINCL)
MONDO: 0009745
InheritancePattern: Autosomal Recessive
Prevalence: Unknown, but part of a larger group of NCL disorders with a collective prevalence between 1 in 12,500 (PMID:9662406) and 1 in 100,000 (PMID:23374165)
Penetrance: Fully penetrant, with onset often in the late infantile period but in some cases during early adulthood or even as late as in the 6th decade of life
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Proteoglycan IMPG2 Shapes the Interphotoreceptor Matrix and Modulates Vision
PMID: 32265257
Gene: IMPG1
HGNC: 6055
Disease: vitelliform macular dystrophy 4
MONDO: 0014508
InheritancePattern: semi-dominant
Prevalence: Vitelliform macular dystrophy in general is estimated to have a prevalence of 1 in 5,500 (PMID: 27120116).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete, while heterozygous carriers of deleterious variants show incomplete penetrance and variable expressivity.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells
PMID: 18697795
Gene: GPR143
HGNC: 20145
Disease: X-linked recessive ocular albinism
MONDO: 0021019
InheritancePattern: X-linked recessive
Prevalence: Ocular albinism has an estimated prevalence between 1 in 111,000 and 1 in 1,000,000 live births (PMID: 35495622)
Penetrance: Fully penetrant in males, with onset in infancy. Most female carriers appear to be unaffected.
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iovs.arvojournals.org iovs.arvojournals.org
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NYX (Nyctalopin on Chromosome X), the Gene Mutated in Congenital Stationary Night Blindness, Encodes a Cell Surface Protein
PMID: 14507859
Gene: NYX
HGNC: 8082
Disease: Congenital stationary night blindness 1A
MONDO: 0010690
InheritancePattern: X-linked recessive
Prevalence: Congenital stationary night blindness has an estimated prevalence between 1 in 6,000 (PMID: 31427709) and 1 in 300,000 (PMID: 3487908). However, the prevalence of congenital stationary night blindness 1A specifically is unknown.
Penetrance: Penetrance is thought to be complete.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene
PMID: 7710395
Gene: PRPH2
HGNC: 9942
Disease: retinitis pigmentosa 7
MONDO: 0011974
InheritancePattern: semi-dominant
Prevalence: The incidence of PRPH2-related cases among inherited retinal dystrophies is reported to range from 3.5% in North America to 10.3% in France (PMID: 36010202).
Penetrance: The penetrance among biallelic cases appears to be complete, while the monoallelic cases exhibit incomplete penetrance (PMID: 36609934).
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Interaction between G-coupled Protein Receptor 143 and tyrosinase: Implications for understanding Ocular Albinism Type-1
PMID: 27720922
Gene: GPR143
HGNC: 20145
Disease: X-linked recessive ocular albinism
MONDO: 0021019
InheritancePattern: X-linked recessive
Prevalence: Ocular albinism has an estimated prevalence between 1 in 111,000 and 1 in 1,000,000 live births (PMID: 35495622)
Penetrance: Fully penetrant in males, with onset in infancy. Most female carriers appear to be unaffected.
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Gene Therapy in a Large Animal Model of PDE6A-Retinitis Pigmentosa
PMID: 28676737
Gene: PDE6A
HGNC: 8785
Disease: retinitis pigmentosa 43
MONDO: MONDO:0013437
InheritancePattern: autosomal recessive
Prevalence: The overall prevalence of retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of retinitis pigmentosa with a recessive mode of inheritance is estimated to be 65-85% (between 1 in 3,500 and 1 in 6,200). Retinitis pigmentosa 43 is considered to be make up 2-5% of these cases, with an overall prevalence estimated between 1 in 70,000 and 1 in 310,000.
Penetrance: Known disease-causing alleles appear to be completely penetrant.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Retinal dystrophy of Swedish briard/briard-beagle dogs is due to a 4-bp deletion in RPE65
PMID: 10191083
Gene: RPE65
HGNC: 10294
Disease: Leber congenital amaurosis 2
MONDO: 0008765
InheritancePattern: Autosomal Recessive
Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by RPE65 variants is between 1% and 16.7%. Thus, the prevalence of Leber congenital amaurosis 2 is between 1 in 200,000 and 1 in 10,000,000.
Penetrance: Fully penetrant, with onset typically by 1 year of age
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www.ajo.com www.ajo.com
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A Novel His158Arg Mutation in TIMP3 Causes a Late-Onset Form of Sorsby Fundus Dystrophy
PMID: 16989765
Gene: TIMP3
HGNC: 11822
Disease: Sorsby fundus dystrophy (SFD), also known as Sorsby's fundus dystrophy, Sorsby pseudoinflammatory fundus dystrophy, or hemorrhagic macular dystrophy
MONDO: 0007640
InheritancePattern: Autosomal Dominant
Prevalence: Estimated at 1 in 220,000 (PMID: 28847738)
Penetrance: Fully penetrant, onset between the third and sixth decades of life
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
PMID: 8673101
Gene: RPGR
HGNC: 10295
Disease: RPGR-related retinopathy
MONDO: MONDO:0100437
InheritancePattern: X-linked
Prevalence: The prevalence of RPGR-related retinopathy is calculated to be approximately 1 in 214,000, based on the known incidence of retinitis pigmentosa at 1 in 3,000, the proportion of retinitis pigmentposa that is X-linked at 20%, and the proportion of X-linked retinitis pigmentosa that is RPGR-associated at 70% (PMID: 34985506).
Penetrance: Penetrance is nearly 100% in hemizygous males but is incomplete and dependent upon the variant in heterozygous female carriers.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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PRPF31 reduction causes mis-splicing of the phototransduction genes in human organotypic retinal culture
PMID: 31654038
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academic.oup.com academic.oup.com
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Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden
PMID: 28532774
Gene: KCNQ1
HGNC: 6294
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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A Dominant Mutation in Rpe65, D477G, Delays Dark Adaptation and Disturbs the Visual Cycle in the Mutant Knock-In Mice
PMID: 28041994
Gene: RPE65
HGNC: 10294
Disease: Retinitis pigmentosa 87 with choroidal involvement
MONDO: 0032873
InheritancePattern: Autosomal Dominant
Prevalence: The overall prevalence of Retinitis pigmentosa is between 1 in 3,000 and 1 in 4,000 individuals, while the proportion of Retinitis pigmentosa with a dominant mode of inheritance is estimated to be 15-35% (between 1 in 8,000 and 1 in 27,000). The prevalence of Retinitis pigmentosa 87 with choroidal involvement is considered to be much lower.
Penetrance: Incomplete penetrance, estimated at 80%
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing
PMID: 23847139
Gene: BBS1
HGNC: 966
Disease: Bardet-Biedl syndrome 1
MONDO: 0008854
InheritancePattern: autosomal recessive
Prevalence: The prevalence of BBS1 variants among Bardet-Biedl syndrome cohorts has been reported as at least 20% (PMID: 19402160), while the prevalence of Bardet-Biedl syndrome overall has been estimated between 1 in 13,500 and 1 in 160,000 live births, depending on the population (PMID: 22713813).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities
PMID: 1733835
Gene: RPGR
HGNC: 10295
Disease: RPGR-related retinopathy
MONDO: MONDO:0100437
InheritancePattern: X-linked
Prevalence: The prevalence of RPGR-related retinopathy is calculated to be approximately 1 in 214,000, based on the known incidence of retinitis pigmentosa at 1 in 3,000, the proportion of retinitis pigmentposa that is X-linked at 20%, and the proportion of X-linked retinitis pigmentosa that is RPGR-associated at 70% (PMID: 34985506).
Penetrance: Penetrance is nearly 100% in hemizygous males but is incomplete and dependent upon the variant in heterozygous female carriers.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa
PMID: 19074801
Gene: RBP3
HGNC: 9921
Disease: retinitis pigmentosa 66
MONDO: 0014093
InheritancePattern: autosomal recessive
Prevalence: RBP3-related cases are believed to be very rare (possibly with estimated prevalence of less than 1 in 1,000,000), however, it is believed that there may be under-diagnosis (PMID: 37806543).
Penetrance: RBP3 disease-causing variants appear to have complete penetrance.
-
-
www.nature.com www.nature.com
-
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
PMID: 11062472
Gene: NYX
HGNC: 8082
Disease: Congenital stationary night blindness 1A
MONDO: 0010690
InheritancePattern: X-linked recessive
Prevalence: Congenital stationary night blindness has an estimated prevalence between 1 in 6,000 (PMID: 31427709) and 1 in 300,000 (PMID: 3487908). However, the prevalence of congenital stationary night blindness 1A specifically is unknown.
Penetrance: Penetrance is thought to be complete.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype
PMID: 20157620
Gene: CABP4
HGNC: 1386
Disease: cone-rod synaptic disorder, congenital nonprogressive
MONDO: 0012490
InheritancePattern: autosomal recessive
Prevalence: The prevalence of the Åland eye disease or incomplete congenital stationary night blindness phenotype was estimated at 1 in 22,000 based on a Danish male cohort, with CABP4 variants specifically responsible for 1 out of 35 cases (PMID: 28002560).
Penetrance: Penetrance appears to be 100% among the reported individuals harboring biallelic disease-causing CABP4 variants.
-
-
www.liebertpub.com www.liebertpub.com
-
Long-Term Preservation of Cones and Improvement in Visual Function Following Gene Therapy in a Mouse Model of Leber Congenital Amaurosis Caused by Guanylate Cyclase-1 Deficiency
PMID: 21671801
Gene: GUCY2D
HGNC: 4689
Disease: Leber congenital amaurosis 1
MONDO: 0008764
InheritancePattern: Autosomal Recessive
Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by GUCY2D variants is between 10% and 20% (PMID: 10951519). Thus, the prevalence of Leber congenital amaurosis 1 is between 1 in 165,000 and 1 in 1,000,000.
Penetrance: Fully penetrant, with onset in neonates or in infancy
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
PMID: 1749427
Gene: PRPH2
HGNC: 9942
Disease: retinitis pigmentosa 7
MONDO: 0011974
InheritancePattern: semi-dominant
Prevalence: The incidence of PRPH2-related cases among inherited retinal dystrophies is reported to range from 3.5% in North America to 10.3% in France (PMID: 36010202).
Penetrance: The penetrance among biallelic cases appears to be complete, while the monoallelic cases exhibit incomplete penetrance (PMID: 36609934).
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Identification of Compound Heterozygous Mutations in the BBS7 Gene in a Korean Family with Bardet-Biedl Syndrome
PMID: 25553308
Gene: BBS7
HGNC: 18758
Disease: Bardet-Biedl syndrome 7
MONDO: 0014435
InheritancePattern: autosomal recessive
Prevalence: The prevalence of BBS7 variants among Bardet-Biedl syndrome cohorts has been reported at 4.2% (PMID: 19402160), while the prevalence of Bardet-Biedl syndrome overall has been estimated between 1 in 13,500 and 1 in 160,000 live births, depending on the population (PMID: 22713813).
Penetrance: The penetrance of the phenotype among homozygous cases appears to be complete.
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
Analysis of Retinol Binding Protein 4 and ABCA4 Gene Variation in Non-Neovascular Age-Related Macular Degeneration
PMID: 37510153
Gene: ABCA4
HGNC: 34
Disease: age related macular degeneration 2
MONDO: 0007932
InheritancePattern: autosomal dominant
Prevalence: The overall prevalence of age-related macular degeneration is estimated to be 9.9-19.5% (early-stage) or 1.1-3.9% (late-stage) among all people over age 50 years (PMID: 31712255).
Penetrance: The penetrance of proposed disease-causing alleles is not clear but is expected to be incomplete and age-dependent.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract
PMID: 25091951
Gene: ADAM9
HGNC: 216
Disease: cone-rod dystrophy 9
MONDO: MONDO:0013002
InheritancePattern: autosomal recessive
Prevalence: The prevalence of cone-rod dystrophy in general is estimated to be 1 in 40,000 (PMID: 17270046), however, the specific prevalence of cone-rod dystrophy 9 is unknown.
Penetrance: Penetrance appears to be complete in reported families, but it is possible that incomplete penetrance may be associated with some variants.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D
PMID: 29559409
Gene: GUCY2D
HGNC: 4689
Disease: Leber congenital amaurosis 1
MONDO: 0008764
InheritancePattern: Autosomal Recessive
Prevalence: The overall prevalence of Leber congenital amaurosis is between 1 in 33,000 and 1 in 100,000 newborns, while the proportion of Leber congenital amaurosis caused by GUCY2D variants is between 10% and 20% (PMID: 10951519). Thus, the prevalence of Leber congenital amaurosis 1 is between 1 in 165,000 and 1 in 1,000,000.
Penetrance: Fully penetrant, with onset in neonates or in infancy
-
-
jasn.asnjournals.org jasn.asnjournals.org
-
Disruption of IFT Complex A Causes Cystic Kidneys without Mitotic Spindle Misorientation
PMID: 22282595
Gene: IFT140
HGNC: 29077
Disease: polycystic kidney disease
MONDO: 0020642
InheritancePattern: autosomal dominant
Prevalence: The overall prevalence of polycystic kidney disease is between 1 in 400 and 1 in 1,000 individuals (PMID: 30523303).
Penetrance: Disease caused by monoallelic IFT140 variants is incompletely penetrant.
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
VWF collagen (types III and VI)‐binding defects in a cohort of type 2M VWD patients – a strategy for improvement of a challenging diagnosis
PMID: 28083987
Gene: VWF
HGNCID: 12726
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Validation of automated latex von Willebrand factor activity assay in a new prospective study including post‐treatment patient samples
PMID: 28120508
Gene: VWF
HGNCID: 12726
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders
PMID: 31064749
Gene: VWF
HGNC: 12726
Disease: von Willebrand Disease Type 2
MONDO: 0013304
InheritancePattern: Autosomal Dominant (for Types 2A, 2B and 2M) or Autosomal Recessive (for Type 2N)
Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).
Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic variants
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Diagnosis and Treatment of von Willebrand Disease and Rare Bleeding Disorders
PMID: 28394285
Gene: VWF
HGNCID: 12726
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
Search for mutations in a segment of the exon 28 of the human von Willebrand factor gene: New mutations, R1315C and R1341W, associated with type 2M and 2B variants
PMID: 9723578
Gene: VWF
HGNC: 12726
Disease: von Willebrand disease type 2B
MONDO: 0015629
InheritancePattern: Autosomal Dominant
Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).
Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Diagnostic challenges in von Willebrand disease. Report of two cases with emphasis on multimeric and molecular analysis
PMID: 32664776
Gene: VWF
HGNC: 12726
-
-
web-p-ebscohost-com.libproxy.lib.unc.edu web-p-ebscohost-com.libproxy.lib.unc.edu
-
Type‐3 von Willebrand disease in India—Clinical spectrum and molecular profile
PMID: 29984440
Gene: VWF
HGNCID: 12726
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Management of pregnancy in type 2B von Willebrand disease: case report and literature review
PMID: 25431025
Gene: VWF
HGNC: 12726
Disease: von Willebrand disease type 2B
MONDO: 0015629
InheritancePattern: Autosomal Dominant
Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).
Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants
-
-
www.sciencedirect.com www.sciencedirect.com
-
Type 2M von Willebrand Disease: F606I and I662F Mutations in the Glycoprotein Ib Binding Domain Selectively Impair Ristocetin- but not Botrocetin-Mediated Binding of von Willebrand Factor to Platelets
PMID: 9473222
Gene: VWF
HGNC: 12726
Disease: von Willebrand disease type 2M
MONDO: 0015630
InheritancePattern: Autosomal Dominant
Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral (PMID: 28847738).
Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Molecular diagnosis of von Willebrand disease L. Baronciani Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and Luigi Villa Foundation, Milan, ItalySearch for more papers by this author A. Goodeve Department of Infection, Immunity and Cardiovascular Disease, University of Sheffield Medical School, Sheffield, UKSearch for more papers by this author F. Peyvandi Corresponding Author flora.peyvandi@unimi.it orcid.org/http://orcid.org/0000-0001-7423-9864 Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and Luigi Villa Foundation, Milan, Italy Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy Correspondence: Flora Peyvandi, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and Luigi Villa Foundation; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, via Pace 9, 20122 Milan, Italy. Tel.: +39 02 5503 4456; fax: +39 02 5410 0125; e‐mail: flora.peyvandi@unimi.itSearch for more papers by this author
PMID: 28220580
Gene: VWF
HGNCID: 12726
-
-
ashpublications.org ashpublications.org
-
VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population
PMID: 22197721
Gene: VWF
HGNC: 12726
Disease: von Willebrand Disease Type 2N
MONDO: 0015631
InheritancePattern: Autosomal Recessive
Prevalence: Various sources (PMID: 28847738, PMID:19809303, PMID:29115006) can be combined to estimate the prevalence of VWD Type 2N between 1:15,000 and 1:80,000.
Penetrance: VWD type 2 is fully penetrant / nearly fully penetrant for most pathogenic variants.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Differential effects of the loss of intrachain- versus interchain-disulfide bonds in the cystine-knot domain of von Willebrand factor on the clinical phenotype of von Willebrand disease
PMID: 17139364
Gene: VWF
HGNC: 12726
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Compromised Shear-Dependent Cleavage of Type 2N von Willebrand Factor Variants by ADAMTS13 in the Presence of Factor VIII
PMID: 23636243
Gene: VWF
HGNC: 12726
Disease: von Willebrand Disease Type 2N
MONDO: 0015631
InheritancePattern: Autosomal Recessive
Prevalence: Various sources (PMID: 28847738, PMID:19809303, PMID:29115006) can be combined to estimate the prevalence of VWD Type 2N between 1:15,000 and 1:80,000.
Penetrance: VWD type 2 is fully penetrant / nearly fully penetrant for most pathogenic variants.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Type-3 von Willebrand disease in India—Clinical spectrum and molecular profile
PMID: 29984440
Gene: VWF
HGNCID: 12726
Note: PDF accessed through UNC articles+
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
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First report of inhibitory von Willebrand factor alloantibodies in type 2B von Willebrand disease
PMID: 25851809
Gene: VWF
HGNC: 12726
Disease: von Willebrand disease type 2B
MONDO: 0015629
InheritancePattern: Autosomal Dominant
Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).
Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Efficacy of Octocog Alfa (Advate) in a Child with Type 3 von Willebrand Disease and Alloantibodies
PMID: 28926986
Gene: VWF
HGNCID: 12726
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
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Comparative analysis of von Willebrand factor profiles after implantation of left ventricular assist device and total artificial heart
PMID: 28586149
Gene: VWF
HGNCID: 12726
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Increased Vasoocclusive Crises in “O” Blood Group Sickle Cell Disease Patients: Association with Underlying Thrombospondin Levels
PMID: 28512557
Gene: VWF
HGNCID: 12726
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
Prevalence and characterization of anti-VWF antibodies in apopulation of patients with type 3 VWD
PMID: 39088757 Gene: VWF HGNCID: HGNC:12726
NOTE: Annotation work has ceased due to confirmation from staff that there is insufficient phenotypic info and unclear/difficult variant IDs to identify for several patients.
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Thrombocytopenia Pitfalls: Misdiagnosing Type 2B von Willebrand Disease as Ethylenediaminetetraacetic Acid-Dependent Pseudothrombocytopenia
PMID: 27215777
Gene: VWF
HGNCID: 12726
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
The agglutination of human platelets by botrocetin: evidence that botrocetin and ristocetin act at different sites on the factor VIII molecule and platelet membrane
PMID: 6426499
Gene: VWF
HGNC: 12726
Disease: von Willebrand disease type 2M
MONDO: 0015630
InheritancePattern: Autosomal Dominant
Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).
Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
A rare case of type 2A von Willebrand disease with compound heterozygous mutation
PMID: 40298995
Gene: VWF
HGNCID: HGNC:12726
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
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Comparison of an automated chemiluminescent assay to a manual ELISA assay for determination of von Willebrand Factor collagen binding activity on VWD plasma patients previously diagnosed through molecular analysis of VWF
PMID: 28980759
Gene: VWF
HGNCID: 12726
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Angiodysplasia in von Willebrand disease: Understanding the clinical and basic science
PMID: 28476066
Gene: VWF
HGNCID: 12726
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Current challenges in the diagnosis and management of patients with inherited von Willebrand’s disease in Italy: an Expert Meeting Report on the diagnosis and surgical and secondary long-term prophylaxis
PMID: 29313798
Gene: VWF
HGNCID: 12726
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Discrepant platelet and plasma von Willebrand factor (VWF) in von Willebrand disease (VWD) patients with p.Pro2808Leufs*24
PMID: 28453889
Gene: VWF
HGNCID: 12726
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
Type 2B von Willebrand Disease Associated With the Release of Platelet Agglutinates From Megakaryocytes in the Bone Marrow
PMID: 18776767 Gene: VWF HGNCID: HGNC:12726
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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The genetic basis of von Willebrand disease
PMID: 20409624
Gene: VWF
HGNC: 12726
Disease: von Willebrand disease type 2B
MONDO: 0015629
InheritancePattern: Autosomal Dominant
Prevalence: Overall VWD prevalence is estimated to be as high as 1 in 100 in the general population, with 1 in 10,000 pursuing tertiary care referral ((PMID: 28847738).
Penetrance: Fully penetrant / nearly fully penetrant for most pathogenic type 2 variants
-
-
onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
-
Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease F. Ahmad, Corresponding Author F. Ahmad Department of Haematology, All India Institute of Medical Sciences (AIIMS), New Delhi, India Center for Translational Medicine, School of Medicine Temple University, Philadelphia, PA, USA Correspondence: Firdos Ahmad, PhD, Center for Translational Medicine, School of Medicine Temple University, 3500 N Broad Street, Philadelphia, PA 19140, USA. Tel.: +1 215 707 6518; fax: +1 215 707 9820; e-mail: firdos.ahmad@temple.edu Renu Saxena, MD, Professor and Head, Department of Hematology, All India Institute of Medical Sciences, New Delhi, India 110029. Tel: +91-11-2659 4670 Fax: +91-11-2658 8663 e-mail: renusaxena@outlook.comSearch for more papers by this authorF. Oyen, F. Oyen Department of Pediatric Haematology Oncology, University Medical Centre Hamburg Eppendorf, Hamburg, GermanySearch for more papers by this authorR. Jan, R. Jan Department of Haematology, All India Institute of Medical Sciences (AIIMS), New Delhi, IndiaSearch for more papers by this authorU. Budde, U. Budde Hämostaseology, Medilys Laborgesellschaft mbH, Hamburg, GermanySearch for more papers by this authorR. Schneppenheim, R. Schneppenheim Department of Pediatric Haematology Oncology, University Medical Centre Hamburg Eppendorf, Hamburg, GermanySearch for more papers by this authorR. Saxena, Corresponding Author R. Saxena Department of Haematology, All India Institute of Medical Sciences (AIIMS), New Delhi, India Correspondence: Firdos Ahmad, PhD, Center for Translational Medicine, School of Medicine Temple University, 3500 N Broad Street, Philadelphia, PA 19140, USA. Tel.: +1 215 707 6518; fax: +1 215 707 9820; e-mail: firdos.ahmad@temple.edu Renu Saxena, MD, Professor and Head, Department of Hematology, All India Institute of Medical Sciences, New Delhi, India 110029. Tel: +91-11-2659 4670 Fax: +91-11-2658 8663 e-mail: renusaxena@outlook.comSearch for more papers by this author
PMID: 24712919
Gene: VWF
HGNCID: 12726
Note: abnormal multimers found in patient with p.I1628T variant
-
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Differential diagnosis of neonatal alloimmune thrombocytopenia: Type 2B von Willebrand disease
PMID: 28436749
Gene: VWF
HGNCID: 12726
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
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A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias☆
PMID: 28491642
Gene: ACTC1
HGNC ID: 143
-
A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias
PMID: 28491642
Gene: ACTC1
HGNC ID: 143
-
A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias
PMID: 28491642
Gene: ACTC1
HGNC ID: 143
-
A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias
PMID: 28491642
Gene: ACTC1
HGNC ID: 143
-
A novel ACTC1 mutation in a young boy with left ventricular noncompaction and arrhythmias PMID: 28491642
Gene: ACTC1
HGNC ID: 143
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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[The role of three-dimensional speckle tracking imaging derived parameters on predicting outcome of hypertrophic cardiomyopathy patients with MYH7 mutations]
PMID: 32370479
Gene: MYH7
HGNC: 7577
-
-
www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
-
A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement
PMID: 23707328
Gene: MYH7
HGNC: 7577
-
-
link.springer.com link.springer.com
-
Effects of renal sympathetic denervation and angiotensin-converting enzyme inhibitor on left ventricular hypertrophy
PMID: 24924395
Gene: MYH7
"RSD had a significant antihypertensive effect and inhibited hypertensive-induced cardiac hypertrophy in SHRs and showed advantages compared with ACEI in decreasing BP in the early stage and in inhibiting myocardial fibrosis"
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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JMJD1A Represses the Development of Cardiomyocyte Hypertrophy by Regulating the Expression of Catalase
PMID: 32461996
Gene: MYH7
HGNC: 7577
-
-
heart-bmj-com.libproxy.lib.unc.edu heart-bmj-com.libproxy.lib.unc.edu
-
A systematic review and meta-analysis of genotype–phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations
PMID: 23674365
Gene: MYH7
HGNC: 7577
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Hypertrophic Cardiomyopathy Overview
PMID: 20301725
Gene: MYH7
HGNC: 7577
"The purpose of this overview is to increase clinician awareness of the genetic basis of hypertrophic cardiomyopathy (HCM) and the benefits of early diagnosis and management to individuals with genetic HCM."
-
-
www.jstage.jst.go.jp www.jstage.jst.go.jp
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Lifelong Clinical Impact of the Presence of Sarcomere Gene Mutation in Japanese Patients With Hypertrophic Cardiomyopathy
PMID: 32830170
Gene: MYH7
HGNC: 7577
-
-
www.sciencedirect.com www.sciencedirect.com
-
FBXW7 promotes pathological cardiac hypertrophy by targeting EZH2-SIX1 signaling
PMID: 32380038
Gene: MYH7
HGNC: 7577
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Analysis of Contractile Function of Permeabilized Human Hypertrophic Cardiomyopathy Multicellular Heart Tissue
PMCID: 6447666
Gene: MYH7
HGNC: 7577
-
-
www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
-
Mutation Spectrum in a Large Cohort of Unrelated Chinese Patients With Hypertrophic Cardiomyopathy
PMID: 23711808
Gene: MYH7
HGNC: 7577
Direct gene sequencing of β-myosin heavy chain (MYH7), myosin binding protein-C (MYBPC3), and cardiac troponin T (TNNT2) was performed in 136 unrelated Chinese HC patients. Clinical evaluations were conducted. In total, 32 mutations were identified in 36 patients (27%), including 10 novel ones. Distribution of mutations was 56% (MYBPC3), 31% (MYH7), and 13% (TNNT2), respectively. Double mutations were identified in 3% patients.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Transgenic Mouse α- and β-Cardiac Myosins Containing the R403Q Mutation Show Isoform-dependent Transient Kinetic Differences*
PMID: 23580644
Gene: MYH7
HGNC: 7577
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy
PMID: 23800289
Gene: MYH7
HGNC: 7577
"This is the first indication that a mutation in the MYH7B gene causes LVNC cardiomyopathy. We demonstrated that the arginine at position 890 of the MYH7B gene is highly conserved in all species; this region is also conserved in the MYH7 gene, which, when mutated, causes LVNC. These data further support the concept that sarcomere genes are associated with LVNC."
-
-
link-springer-com.libproxy.lib.unc.edu link-springer-com.libproxy.lib.unc.edu
-
Longitudinal metabolic profiling of cardiomyocytes derived from human-induced pluripotent stem cells
PMID: 32424548
Gene: MYH7
HGNC: 7577
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Attenuation of Cardiomyocyte Hypertrophy via Depletion Myh7 using CASAAV
PMID: 33098074
Gene: MYH7
HGNC: 7577
"This study aimed to identify the dominant function of Myh7 after birth and determine whether its removal would affect CM maturation or contribute to reversal of pathological hypertrophy phenotypes."
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy
PMID: 23782526
Gene:MYH7
HGNC: 7577
Additional annotations found in:
https://www-jstage-jst-go-jp.libproxy.lib.unc.edu/article/circj/77/9/77_CJ-13-0294/_pdf/-char/en
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
Family screening of hypertrophic cardiomyopathy in children: a case report
PMID: 36128439
Gene: MYL2
HGNC ID: 7583
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
A Novel Arginine to Tryptophan (R144W) Mutation in Troponin T (cTnT) Gene in an Indian Multigenerational Family with Dilated Cardiomyopathy (FDCM)
PMID: 24992688
Gene: TNNT2
HGNC ID: 11949
-
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
Furthering the Link Between the Sarcomere and Primary Cardiomyopathies: Restrictive Cardiomyopathy Associated with Multiple Mutations in Genes Previously Associated With Hypertrophic or Dilated Cardiomyopathy
PMID: 21823217
Gene: MYL2
HGNC ID: 7583
-
-
www-nature-com.libproxy.lib.unc.edu www-nature-com.libproxy.lib.unc.edu
-
87
Case#: 87, Gender N/A, 6 months old when diagnosed, Asian
DiseaseAssertion:Pompe disease
FamilyInfo: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText:N/A
CaseNotHPOs: N/A
CaseNotHPOFreeText: The patient did not present any symptoms, diagnosed was made based on the predicted impact of the variant by PolyPhen-2
CasePreviousTesting: The GAA gene was sequenced using NGS and resequenced for confirmation using Sanger.
Dried Blood spot test found an GAA activity of 4.6 pmol/h/disk with a reference value of 6.5 pmol/h/disk
enzyme activity in fibroblast was recorded to be 5.4 nmol/h/mg protein.
Variants: Variant1: (Two mutated alleles with heterozygous mutations)
Variant1.1: NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
ClinVar: 346310
CAID: CA8815007
gnomAD: Highest population MAF = 0.002234 (East Asian)
Variant1.2: NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
ClinVar: 330447
CAID: CA8815009
gnomAD: Highest popu;ation MAF= 0.002235 (East Asians)
Variant2: NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys)
ClinVar: 546808
CAID: N/A
gnomAD: N/A
ParentalGenotype:N/A
PreviouslyPublished:N/A
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Unusual Cardiac “Masses” in a Newborn with Infantile Pompe Disease
PMID: 23430912
Gene: GAA
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAE
PMID: 23430513
Gene: GAA
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease
PMID: 31392188
Gene: GAA
Disease: Pompe disease
Inheritance: Autosomal recessive
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy
PMID: 23787031
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
-
-
link-springer-com.libproxy.lib.unc.edu link-springer-com.libproxy.lib.unc.edu
-
Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa
PMID: 30778879
Gene: GAA
-
-
reader.elsevier.com reader.elsevier.com
-
EFFECTS OF TICLOPIDINE ON MONOCLONAL ANTI-CD9 ANTIBODY-INDUCED PLATELET AGGREGATION AND MICROPARTICLE GENERATIO
PMID: 1604445
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156, respectively as shown above
NoEvidence: This article does not mention Glanzmann thrombasthenia probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence. In this study, they analyzed the effects of ticloplidine on anti-CD9 antibody-induced platelet aggregation as well as on the release of microparticles by platelets exposed to the antibodies in vitro.
-
-
Local file Local file
-
Type II Glanzmann thrombasthenia in a compoundheterozygote for the αIIb gene. A novel missensemutation in exon 27
PMID: 17018384
Gene: ITGA2B
HGNC: 6138
-
-
www.tandfonline.com www.tandfonline.com
-
A new variant of Glanzmann's thrombasthenia with defective activation-dependent fibrinogen binding and altered expression of epitopes for several monoclonal antibodies against GP IIb-IIIa
PMID: 21043690
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a GT patient LB with GT; however, no specific variants in ITGA2B and/or ITGB3 are mentioned in this patient therefore there is insufficient evidence
-
-
pubs-acs-org.libproxy.lib.unc.edu pubs-acs-org.libproxy.lib.unc.edu
-
Atomic Force Microscopy-Based Molecular Recognition of a Fibrinogen Receptor on Human Erythrocytes
PMID: 20731444
Gene: ITGB3
HGNC: 6156
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Evaluation of platelet surface glycoproteins in patients with Glanzmann thrombasthenia: Association with bleeding symptoms
PMID: 28948953
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: There are no probands with specific variants-- rather, in this article, 51 patients of Glaznmann thrombasthenia were diagnosed by platelet aggregation studies and were evaluated for the expression of CD41, CD61, CD42a and CD42b on platelet surface by flow cytometry. The association between the clinical phenotype based on bleeding score and GT subtype on flow cytometric evaluation was assessed.
-
-
Local file Local file
-
A Glanzmann thrombasthenia family associated with a TUBB1‐related macrothrombocytopenia
PMID: 31565851
Gene: ITGB3
HGNC: 6156
-
-
-
Sibling allogeneic bone marrow transplantationin a patient with type I Glanzmann’s thrombasthenia
PMID: 9359503
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Two novel ITGA2B mutations in a Glanzmann thrombasthaenia family associated with different platelet phenotypic expression
PMID: 27416581
Gene: ITGA2B
HGNC: 6138
-
-
www.jbc.org www.jbc.org
-
A Spontaneous Mutation of Integrin a~& (Platelet Glycoprotein IIb-IIIa) Helps Define a Ligand Binding Site
PMID: 1371279
Gene: ITGB3
HGNC: 6156
-
-
journals.sagepub.com journals.sagepub.com
-
Clinical, Biochemical, and Molecular Aspects of Glanzmann's Thrombasthenia in Humans and Dogs
PMID: 11355654
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article mentions GT in humans and dogs however there is no specific case report or variants in ITGA2B and/or ITGB3 mentioned
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
TheRoleofvonWillebrandFactorandFibrinogeninPlateletAggregationunderVaryingShearStress
PMID: 2010539
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
-
-
Local file Local file
-
Antibody Removal Therapy Used Successfully at Delivery of a Pregnant Patient with Glanzmann’s Thrombasthenia and Multiple Anti-Platelet Antibodies
PMID: 1949709
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
-
-
watermark.silverchair.com watermark.silverchair.com1108.pdf1
-
Activation of the Fibrinogen Binding Site on Platelets Isolated From a Patient With the Strasbourg I Variant of Glanzmann's Thrombasthenia
PMID: 8049427
Gene: ITGB3
HGNC: 6156
-
-
ashpublications.org ashpublications.org
-
Major mutations in calf-1 and calf-2 domains of glycoprotein IIb in patients with Glanzmann thrombasthenia enable GPIIb/IIIa complex formation, but impair its transport from the endoplasmic reticulum to the Golgi apparatus
PMID: 12609844
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions 2 major mutations in the calf-1 and calf-2 domains of ITGA2B. There are no specific Glanzmann thromasthenia patients mentioned that harbor these specific variants; therefore, there is insufficient evidence
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann's thrombasthenia-like syndrome.
PMID: 9834222
Gene: ITGA2B
HGNC: 6138
NOTE: Curated on Pubmed abstract because blood journal is not saving annotations correctly
-
-
www.ahajournals.org www.ahajournals.org
-
Two Types of Procoagulant Platelets Are Formed Upon Physiological Activation and Are Controlled by Integrin αIIbβ3
PMID: 22837472
Genes: ITGA2B and ITGB3
HGNC: 6138 and 6156
-
-
Local file Local file
-
Clinical Case Report
PMID: 14606769
Gene: ITGB3
HGNC: 6156
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Glanzmann Thrombasthenia in Children From Argentina
PMID: 8556365
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions 10 GT patients; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
-
-
Local file Local file
-
PLATELET TRANSFUSION IN A PATIENT AFFECTED BY GLANZMANN'STHROMBASTHENIA WITH ANTIBODIES AGAINST GPIIb-IIIa
PMID: 9107089
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
-
-
www.tandfonline.com www.tandfonline.com
-
Diagnosis of platelet function disorders: A standardized, rational, and modular flow cytometric approach
PMID: 29227167
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article is about developing a standardized and modular flow cytometric approach, that contributes to clarify impaired platelet function in a rational step by step manner. There is no mention of variants in probands for ITGA2B or ITGB3
-
-
ashpublications.org ashpublications.org
-
Identification of a region in glycoprotein IIIa involved in subunit association with glycoprotein IIb: further lessons from Iraqi-Jewish Glanzmann thrombasthenia
PMID: 11719373
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in ITGA2B/ITGB3; however, no probands discussed in this article
-
-
ashpublications.org ashpublications.org
-
Enzymatically catalyzed disulfide exchange is required for platelet adhesion to collagen via integrin α2β1
PMID: 12791669
Gene: ITGB3
HGNC: 6156
InsufficientEvidence: This article mentions a variant in ITGB3; however, there is no mention of a proband with this variant
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Glanzmann's Thrombastenia: The Role of Tranexamic Acid in Oral Surgery
PMID: 30254767
Gene: ITGA2B and/or ITGB3 (Proband diagnosed with Gt therefore these genes may be involved here)
HGNC: 6138 and 6156
InsufficientEvidence: Proband with Glanzmann Thrombasthenia described here however no mention of variants therefore insufficient evidence
-
-
reader.elsevier.com reader.elsevier.com
-
BlockingPlateletAggregationInhibitsThromboxaneA2FormationbyLowDoseAgonistsButDoesNotInhibitPhosphotylationandActivationofCytosolicPhospholipaseA2.
PMID: 9361365
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156, respectively
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3. In this study, they made use of Ro 44-9883 as a potent non-peptide GPIIb/IIIa antagonist to address the relationship of platelet aggregation to PLA2 activation, TxA2 formation, and granule secretion.
-
-
www.jbc.org www.jbc.org
-
Mechanistic Insights from a Refined Three-dimensionalModel of IntegrinIIb3*
PMID: 15056669
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions Glanzmann thrombasthenia variants; however, no patients with GT are mentioned with these variants therefore we have insufficient evidence
-
-
ashpublications.org ashpublications.org
-
Fibrin-Dependent Platelet Procoagulant Activity Requires GPIb Receptors and von Willebrand Factor
PMID: 9885217
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article references a GT patient, which was reported as a case report in another article; however, no specific case reports are mentioned in this article
PreviouslyPublished: PMID: 2014236
-
-
www.jbc.org www.jbc.org
-
Critical Residues of IntegrinaIIb Subunit for Binding ofaIIbb3(Glycoprotein IIb-IIIa) to Fibrinogen and Ligand-mimeticAntibodies (PAC-1, OP-G2, and LJ-CP3)*
PMID: 8702512
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in ITGA2B and/or ITGB3; however, there are no Glanzmann thrombasthenia case reports mentioned in this article therefore we have insufficient evidence
-
-
instructure-uploads.s3.amazonaws.com instructure-uploads.s3.amazonaws.com
-
Three Novel Integrinb3 Subunit Missense Mutations(H280P, C560F, and G579S) in Thrombasthenia, IncludingOne (H280P) Prevalent in Japanese Patients
PMID: 9790984
Gene: ITGB3
HGNC: 6156
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
Triple heterozygosity in the integrin αIIb subunit in a patient with Glanzmann's thrombasthenia
PMID: 15099289
Gene: ITGA2B
HGNC: 6138
-
-
Local file Local file
-
Coronary Artery Bypass Grafting in aPatient with Glanzmann’sThrombasthenia
PMID: 16309410
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a proband with GT'; however, no variants in ITGA2B and/or ITGB3 are mentioned therefore we have insufficient evidence
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Thalidomide for the Treatment of Gastrointestinal Bleeding Due to Angiodysplasia in a Patient with Glanzmann’s Thrombasthenia
PMID: 28670433
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article describes a proband with Glanzmann thrombasthenia; however, there is no mention of variants in ITGA2B and ITGB3 in this proband.
-
-
www.ahajournals.org www.ahajournals.org
-
GT5
Case#: 19, female
Disease: Glazmann's Thrombasthenia
CasePresentingHPOs: HP:0000967, HP:0000978, HP:0000225, HP:0006298, HP:0001892
PlateletAgreggation: Defective response to ADP, Adrenaline, Collagen, Arachidonic acid. Normal response to Ristocetin.
GenotypingMethod: Genomic DNA was extracted from peripheral blood leukocytes for mutational analysis of the αIIb and β3 genes by DNA sequencing
Allele 1:
ClinVar: 1330339
CAID: CA400024922
Variant: NM_000212.3:c.856G>A
GnomAD: Not Found
Allele 2
ClinVar: 1330314
CAID: CA400028591
Variant: NM_000212.3:c.1288C>T
GnomAD: Highest in European non-Finnish population 0.000008801 (1/113622)
ExpressionEvidence: Flow Cytometry of platelet integrin: 10% B3 expression, 86.6% A2B expression
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Glanzmann's Thrombasthenia Diagnosed following Knee Arthroscopy
PMID: 26000186
Gene: Patient could have variation in ITGA2B or ITGB3, article does not specify; however, patient has GT so it is implied one of the two genes is involved
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a proband who was diagnosed with Glanzmann thrombasthenia; however, there is no mention of variants in ITGA2B or ITGB3 in this patient; therefore, we have insufficient evidence
-
-
www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu
-
Binding of plasma factor XIII to thrombin-receptor activated human platelets
PMID: 19572072
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients with variants in ITGA2B and/or ITGB3
-
-
Local file Local file
-
aIIbG236E causes Glanzmann thrombasthenia by impairingassociation withb3
PMID: 18791937
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
-
-
ashpublications.org ashpublications.org
-
A dinucleotide deletion in exon 4 of the PlA2 allelic form of glycoprotein IIIa: implications for the correlation of serologic versus genotypic analysis of human platelet alloantigens
PMID: 8916947
Gene: ITGB3
HGNC: 6156
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Total Extraction as a Treatment for Anaemia in a Patient of Glanzmann’s Thrombasthenia with Chronic Gingival Bleed: Case Report
PMID: 26894187
Gene: ITGA2B and/or ITGB3 (Article does not explicitly state these genes; however, patient has Glanzmann thrombasthenia so these two genes are implied)
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case report of an 18 year old male patient with Glanzmann thromasthenia; however, there are no variants in ITGA2B or ITGB3 that are mentioned here
-
-
pdfs.semanticscholar.org pdfs.semanticscholar.org
-
Glanzmann’s Thrombasthenia Associated With Deletion-Insertion and Alternative Splicing in the Glycoprotein IIb Gene
PMID: 7529063
Gene: ITGA2B
HGNC: 6138
-
-
Local file Local file
-
A systematic review of the management and outcomes ofpregnancy in Glanzmann thrombasthenia
PMID: 21457404
Genes: ITGA2B and ITGB3
HGNC: 6138 and 6156
Insufficient Evidence: This article reports the results of a systematic review of management and outcome data contained within all published descriptions of pregnancy in GT. Probands with GT are mentioned; however, no variants are mentioned.
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
A Cys374Tyr homozygous mutation of platelet glycoprotein IIIa (beta 3) in a Chinese patient with Glanzmann's thrombasthenia.
PMID: 8781422
Gene: ITGB3
HGNC: 6156
-
-
Local file Local fileRCH521
-
INHERITEDDEFECTS OFPLATELETFUNCTION
PMID: 11844132
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions variants in ITGA2B and ITGB3; however, there are no specific Glanzmann thrombasthenia patients with the mentioned variants; therefore, there is insufficient evidence
-
-
watermark.silverchair.com watermark.silverchair.com
-
Carrier Detection in Glanzmann ThrombastheniaComparison of Flow Cytometry and Western Blot With Respect to DNA Mutation
PMID: 18550477
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions probands with GT; however, the probands are clumped together, and variants are not specifically tied to probands
-
-
Local file Local file
-
Concomitant occurrence of mucopolysaccharidosis IIIB and Glanzmann's thrombasthenia. Further
PMID: 1606713
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a Glanzmann thrombasthenia patient and family members of the patient; however, there is no mention of variants in ITGA2B and/or ITGB3; therefore, there is insufficient evidence
-
-
ashpublications.org ashpublications.org
-
Two novel mutations in the αIIb calcium-binding domains identify hydrophobic regions essential for αIIbβ3 biogenesis
PMID: 12424194
Gene: ITGA2B
HGNC: 6138
-
-
Local file Local file2002; 041
-
Glanzmann’s thrombasthenia: modulation of clinical phenotype by α2C807Tgene polymorphism
PMID: 14687991
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
PreviouslyPublished: All probands in this article have been previously published in PMID: 12083483 therefore this paper is not being curated
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
Homozygous Cys542→Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia
PMID: 10233432
Gene: ITGB3
HGNC: 6156
Note: Other GT variants are mentioned at the end of the article; however, those have been mentioned in other papers-- and probands with those mentioned variants are not apart of this paper
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
Glanzmann's thrombasthenia due to a point mutation within intron 10 results in aberrant splicing of the β3 gene
PMID: 14629479
Gene: ITGB3
HGNC: 6156
-
-
www.ahajournals.org www.ahajournals.org
-
Platelet Integrin αIIbβ3 (GPIIb-IIIa) Is Not Implicated in the Binding of LDL to Intact Resting Platelets
PMID: 9012651
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention Glanzmann thrombasthenia patients/probands with variants in ITGA2B and/or ITGB3; therefore, there is no evidence to report
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Periodontal considerations for Glanzmann's thrombasthenic patient
PMID: 20142940
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a case report of a 9 year old GT patient who presented with gum bleeding; however, no specific variants in ITGA2B and/or ITGB3 are presented in this patient; therefore we have insufficient evidnece
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Acquired Glanzmann's thrombasthenia associated with acute lymphoblastic leukemia.
PMID: 16217260
Genes: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a proband with GT; however, no variants in ITGA2B and/or ITGB3 are mentioned therefore we have insufficient evidence
-
-
www.sciencedirect.com www.sciencedirect.com
-
Correction of a large animal model of type I Glanzmann's thrombasthenia by nonmyeloablative bone marrow transplantation
PMID: 14662345
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article mentions dogs with GT; however, the article states, "These animals have a 14-base insertion in exon 13 of glycoprotein IIb gene" which is a variant in ITGA2B. This variant may only be specific to dogs; however, just wanted to make note of this gene alteration.
-
-
Local file Local file
-
Menorrhagia due to abnormalities of the platelet function: Evaluation of two young patients
PMID: 17250517
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions two GT case reports of girls with menorrhagia; however, there was no mention of variants in ITGA2B and/or ITGB3; therefore there is insufficient evidence
-
-
ashpublications.org ashpublications.org
-
A point mutation in the cysteine-rich domain of glycoprotein (GP) IIIa results in the expression of a GPIIb-IIIa (αIIbβ3) integrin receptor locked in a high-affinity state and a Glanzmann thrombasthenia–like phenotype
PMID: 11588040
Gene: ITGB3
HGNC: 6156
-
-
www-thieme-connect-de.libproxy.lib.unc.edu www-thieme-connect-de.libproxy.lib.unc.edu
-
Rapid diagnosis of the French gypsy mutation in Glanzmann thrombasthenia using high- resolution melting analysis
PMID: 20886184
Gene: ITGA2B
HGNC: 6138
InsufficientEvidence: This article discusses the French Gypsy variant NM_000419.3:c.1544+1G>A (p.Val513Leufs*71) in ITGA2B and mentions a cohort of patients harboring this variant; however, there are no specific case level reports mentioned in this article therefore we have insufficient evidence
-
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
GT6
Case: 37 year old male French Gypsy
CasePresentingHPOs: HP:0001975
(Decreased platelet glycoprotein IIb-IIIa)
GenotypingMethod:Genotyping analysis of the HPA-1 system by high resolution melting analysis (methods not provided, cited article I don't have access too)
ClinVar: 2895
CAID: CA10575473
Variant: NM_000419.5:c.1544+1G>A
GnomAD: Not found
ExpressionEvidence: Failed to express αIIbβ3 integrin on their platelet surface (methods not provided cited article no access too)
-
-
Local file Local fileuntitled1
-
Molecular defects inITGA2Band ITGB3 genes in patientswith Glanzmann thrombasthenia
PMID: 19691478
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
-
-
Local file Local file
-
A unique phenotype of acquired Glanzmann thrombastheniadue to non-function-blocking anti-aIIbb3 autoantibodies
PMID: 30388316
Gene: ITGA2B and/or ITGB3 (Proband presented with GT therefore these two genes may be involved)
HGNC: 6138 and 6156
InsufficientEvidence: Proband with Glanzmann thrombasthenia presented in this article; however, no variant information provided
-
-
Local file Local file
-
Expanding the Mutation Spectrum AffectingαIIbβ3Integrin in Glanzmann Thrombasthenia: Screening of theITGA2BandITGB3Genes in a Large International Cohor
PMID: 25728920
Genes: ITGA2B and ITGB3
HGNC: 6138 and 6156
Note: In the annotations, case #'s don't always match up with the exact proband #, because not all probands had GT variants identified in them
-
-
-
Type I Glanzmann Thrombasthenia: Most CommonSubtypes in North Indians
PMID: 14508803
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions GT patients however no variants in ITGA2B and/or ITGB3 are mentioned in these patients.
In this study the goal was to determine what the common subtype of GT was: The expression of GPIIb/IIIa on the platelet surface was assessed in 10 patients with Glanzmann thrombasthenia and their families by flow cytometry to determine the common subtype in North Indians
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Abnormal Whole Blood Thrombi in Humans with Inherited Platelet Receptor Defects
PMID: 23300803
Genes: ITGA2B and ITGB3
HGNC: 6138 an d 6156
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Local file Local file
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Identifying human platelet glycoproteins IIb and IIIa by capillary electrophoresis
PMID: 9694297
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This mentions a Glanzmann thrombasthenia patient; however, no variants in ITGA2B and/or ITGB3 are mentioned in this patient; therefore, we have insufficient evidence
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Epistaxis as a Common Presenting Symptom of Glanzmann's Thrombasthenia, a Rare Qualitative Platelet Disorder: Illustrative Case Examples
PMID: 28299211
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions cases of patients with Glanzmann thrombasthenia and their phenotypes; however, no mention of variants in ITGB3 or ITGA2B
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jcs.biologists.org jcs.biologists.org
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Talin distribution and phosphorylation in thrombin-activated platelets
PMID: 8126100
Gene: ITGA2B and ITGB3
HGNC: 6138 and 6156
NoEvidence: This article does not mention GT probands or variants in ITGA2B and ITGB3. In this study, researchers have examined the talin phosphorylation and proteolytic cleavage as possible mechanisms by which talin's subcellular distribution could be regulated in platelets.
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Local file Local file
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Supplementary Table S1:
Case13: GT14, French, gender age and ethnicity not specified
DiseaseAssertion: Glanzmann thrombasthenia type I
FamilyInfo: N/A
ParentalGenotype: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: All patients had a life-long history of mucocutaneous bleeding
CaseNotHPOs: N/A
CaseNotHPOsFreeText: N/A
ProteinExpression: All patients in this study met the clinical and platelet function requirements for GT-- this includes an absent or strongly reduced expression of alphaIIbBeta3 in platelets
PlateletAggregation: All patients in this study met the clinical and platelet function requirements for GT-- this includes absent or severely reduced platelet aggregation with at least three physiological agonists
CasePreviousTesting: Sanger sequencing was performed. Sanger sequencing ensured coverage of all exons and splice sties of the ITGA2B and ITGB3 genes and extended 300-500 bp into the introns as well as including the UTR. They sequenced 416 bp upstream of the ITGA2B promoter and 463 bp upstream of the ITGB3 promoter. In total they sequenced 51.2% of the ITGA2B gene and 19.4% of the larger ITGB3 gene
Gene: ITGA2B
Variant: NM_000419.3:c.423G>T (p.Trp141Cys) and NM_000419.3:c.2902del (p.Tyr968Metfs*163)
LegacyVariant: N/A
ClinVar: N/A
CAiD: CA399806022 and CA915940332
gnomAD: N/A
Tags
- ProteinExpression:MinimalInformation
- DiseaseEntity:GlanzmannThrombasthenia
- Zygosity:CompoundHeterozygous
- inferred_gene_source:CAID
- InheritancePattern:NoInheritanceAssertion
- SupplementalData
- Gene:ITGA2B
- inferred_gene_hgnc:6138
- CAiD:CA915940332
- Mutation:Missense
- Mutation:Frameshift
- ClinGen ITGA2B/ITGB3
- PlateletAggregation:MinimalInformation
- PreviousTesting:Full
- CAiD:CA399806022
- General
- ClinGen
Annotators
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Local file Local file
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A New Case of Acquired Glanzmann’sThrombasthenia: Diagnostic Value ofFlow Cytometry
PMID: 18200593
Gene: ITGA2B and/or ITGB3
HGNC: 6138 and 6156
InsufficientEvidence: This article mentions a 27 year old proband with Glanzmann thrombasthenia; however, no variants in ITGA2B and/or ITGB3 were mentioned in this proband therefore we have insufficient evidence
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pediatrics-aappublications-org.libproxy.lib.unc.edu pediatrics-aappublications-org.libproxy.lib.unc.edu
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Prospective Diagnosis of 2-Methylbutyryl-CoA Dehydrogenase Deficiency in the Hmong Population by Newborn Screening Using Tandem Mass Spectrometry
PMID: 12837870
Gene: ACADSB
Disease: 2-methylbutyrylglycinuria
MonDO: MONDO:0012392
InheritancePattern: AR
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Mutations in the Dimer Interface of Dihydrolipoamide Dehydrogenase Promote Site-specific Oxidative Damages in Yeast and Human Cells
PMID: 21930696
Gene: DLD
Disease: Pyruvate dehydrogenase E3 deficiency
MonDO: MONDO:0009529
InheritancePattern: Autosomal recessive
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www.sciencedirect.com www.sciencedirect.com
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2-Methylbutyryl-coenzyme A dehydrogenase deficiency: Functional and molecular studies on a defect in isoleucine catabolism
PMID: 17945527
Gene: ACADSB
Disease: 2-methylbutyrylglycinuria
MonDO: MONDO:0012392
InheritancePattern: AR
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www.zora.uzh.ch www.zora.uzh.ch
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Gene: NAT8L
Disease: NAA deficiency
MonDO: MONDO:0013549
PMID: 19807691
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Rare Etiology of Autosomal Recessive Disease in a Child with Noncarrier Parents
PMID: 10915611
Gene: DBT
Disease: Maple syrup urine disease
MonDO: MONDO:0009563
InheritancePattern: AR
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report
PMID: 28851564
Gene: RAB39B
Disease: early-onset parkinsonism-intellectual disability syndrome
MonDO: MONDO:0010709
Notes: The proband reported has clinical features of neurofibromatosis, with a de novo donor splice site variant in NF1, as well as a 12-bp deletion in RAB39B, which the authors assert was responsible for the phenotypes of severe ID, behavioral problems and aggressiveness.
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www-nejm-org.libproxy.lib.unc.edu www-nejm-org.libproxy.lib.unc.edu
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Telomerase Mutations and the Pulmonary Fibrosis–Bone Marrow Failure Syndrome Complex
PMID 22830481
Disease Pulmonary fibrosis/ bone marrow failure syndrome
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onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
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Mucopolysaccharidosis IVA: Submicroscopic Deletion of 16q24.3 and a Novel R386C Mutation of N-Ace~l~aPactosamine-6-Sulfa~e Sulfaease Gene in a Classical Morquio Disease
PMID: 8829629
Gene: GALNS
Disease: Mucopolysaccharidosis IVA
MonDO: MONDO:0009659
InheritancePattern: AR
Notes:
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www.sciencedirect.com www.sciencedirect.com
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Transcription Impairment and Cell Migration Defects in Elongator-Depleted Cells: Implication for Familial Dysautonomia
PMID: 16713582
Gene: ELP1
Disease: Familial dysautonomia
MonDO: MONDO:0009131
InheritancePattern: AR
Notes: Functional Alteration
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onlinelibrary.wiley.com onlinelibrary.wiley.com
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Diagnostic exome sequencing in early‐onset Parkinson's disease confirms VPS13C as a rare cause of autosomal‐recessive Parkinson's disease
PMID 28862745
Gene: VPS13C
Disease Parkinson disease 23, autosomal recessive, early onset
MonDO: MONDO:0014796
InheritancePattern: AR
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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RAB39B Deficiency Impairs Learning and Memory Partially Through Compromising Autophagy
PMID: 33364235
Gene: RAB39B
Disease: early-onset parkinsonism-intellectual disability syndrome
MonDO: MONDO:0010709
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-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Morquio Syndrome Presenting with Dural Band Pathology: A Case Report
PMID: 33390680
Gene: GALNS
Disease: Mucopolysaccharidosis IVA
MonDO: MONDO:0009659
InheritancePattern: AR
Notes: Case report
No genetic or enzymatic confirmation of MPSIVA
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www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
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Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease
PMID: 27825773
Gene: GALNS
Disease: Mucopolysaccharidosis IVA/Morquio A
MonDO: MONDO:0009659
InheritancePattern: AR
Notes:
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www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu www-ncbi-nlm-nih-gov.libproxy.lib.unc.edu
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Telomerase and Idiopathic Pulmonary Fibrosis
PMID 22079513
Disease Idiopathic pulmonary fibrosis
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Single synonymous mutation in Factor IX alters protein properties and underlies hemophilia B
PMID: 28007939
Gene: F9
HGNCID: 3551
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-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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The Molecular Basis of FIX Deficiency in Hemophilia B
PMID: 35269902
Gene: F9
HGNC: 3551
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onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
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PMID: 10874302
Gene: F9
HGNC: 3551
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-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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F9 missense mutations impairing factor IX activation areassociated with pleiotropic plasma phenotypes
PMID: 34626083
Gene: F9
HGNC: 3551
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pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
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Twenty-five novel mutations of the factor IX gene in haemophilia B
PMID: 8680410
Gene: F9
HGNC: 3551
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link.springer.com link.springer.com
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Germline origins in the human F9 gene: frequent G:C→A:T mosaicism and increased mutations with advanced maternal age
PMID: 10647899
Gene: F9
HGNC: 3551
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Mutations Causing Hemophilia B: Direct Estimate of theUnderlying Rates of Spontaneous Germ-Line Transitions,Transversions, and Deletions in a Human Gene
PMID: 2198809
Gene: F9
HGNC: 3551
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www-jbc-org.libproxy.lib.unc.edu www-jbc-org.libproxy.lib.unc.edu
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Factor IX San Dimas
PMID: 2738071
Gene: F9
HGNC: 3551**
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