5 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Heterogeneous Genetic Background of the Association of Pheochromocytoma/Paraganglioma and Pituitary Adenoma: Results From a Large Patient Cohort
    1
    1. ClingenBaseline 04 Nov 2026
      The other SDHA variant was identified in a patient with a VHL mutation and PA (patient 21)

      PatientID: 21

      KindredID: 12

      Case: F, 27Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: N/A

      CohortInfo: Thirty-nine cases of sporadic or familial pheo/PGL and pituitary adenomas were investigated.

      CasePresentingHPOs: HP:0002893; HP:0002666 (Pituitary adenoma, Pheochromocytoma)

      CaseHPOFreeText: Pituitary adenoma presented at age 27. Pheochromocytoma age of presentation unknown.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: MAX/RET/TMEM127/SDHA/SDHB/SDHC/SDHD/SDHAF2

      PreviouslyPublished: N/A

      SupplementalData: Table 1, Supplementary Table 6

      Variant: p.D197N (c.589G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756524, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA351756524

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: D197N (c.589G>A)

      MultipleGeneVariants: Germline, SDHA, c.91C>T (p.Arg31*)

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pituitaryadenoma DiseaseEntity:pheochromocytoma AgeOfPresentation:pituitaryadenoma:27 Mutation:Germline RefSeq:NM_000551.3 cDNAposition:589 ProteinPosition:197 AminoAcidChange:ASPtoASN ClinVarID:N/A CAID:CA351756524 MutationType:missense_variant;transition CivicName:D197N(c.589G>A) PreviousTesting:MAX/RET/TMEM127/SDHA/SDHB/SDHC/SDHD/SDHAF2 Familial SupplementalData MultipleGeneVariants inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC4333031/
  3. academic.oup.com academic.oup.com
    VHL mutation analysis in patients with isolated central nervous system haemangioblastoma
    1
    1. ClingenBaseline 31 Oct 2026
      1 FDR mutation positive        No features VHL disease 63 y

      PatientID: N/A

      KindredID: 7

      Case: Sex Unknown, 63Y0M, Ethnicity Unknown

      DiseaseAssertion: asymptomatic

      FamilyInfo: A first degree relative tested positive for the same VHL mutation (patient B7), they had a cerebellar hemangioblastoma at 30 years old

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.D179N (c.535G>A)

      LegacyVariant: p.D179N (c.748G>A)

      ClinVarID: 419861 (https://www.ncbi.nlm.nih.gov/clinvar/variation/419861/?new_evidence=false)

      CAID: N/A

      gnomAD: 0.000003977 https://gnomad.broadinstitute.org/variant/3-10191542-G-A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: p.D179N(c.535G>A)

      MultipleGeneVariants: N/A

      DiseaseEntity:asymptomatic InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:AF010238.1 cDNAposition:535 ProteinPosition:179 AminoAcidChange:ASPtoASN ClinVarID:419861 ClinVarID:Yes MutationType:missense_variant;transition CivicName:D179N(c.535G>A) Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    academic.oup.com/brain/article/130/3/836/278946
  4. onlinelibrary-wiley-com.uhn.idm.oclc.org onlinelibrary-wiley-com.uhn.idm.oclc.org
    A new germline VHL gene mutation in three patients with apparently sporadic pheochromocytoma
    1
    1. ClingenBaseline 31 Oct 2026
      Patient 3 A 15-year-old man with a history of occipital headache, slightly elevated blood pressure with normal ophthalmological examination for 2 months was found to have a 4-cm-diameter left adrenal mass at MRI, being the abdominal sonography negative. Medical history was negative except for mild asthma, not necessitating medical treatment. The mass showed inhomogeneous density: hypodensity in T1 and hyperdensity in T2 and after Gadolinium contrast. A 123I-MIBG scintigraphy showed a high tracer uptake in left adrenal gland. Immunometric assays indicated high levels of CgA, 73 UI/L NR 2–18) and catecholamines: noradrenaline levels were 11·775 nmol/day (NR: 90–470), and adrenaline and dopamine levels were in the normal range. The patient underwent surgical removal of the mass, which was 4 × 5 × 4 cm in size. Immunohistochemical assays indicated that the tumour was positive for chromogranin A compatible with a diagnosis of PHEO. Follow-up 4 months after surgery (April 2011) showed normal values for chromogranin A, blood pressure and negative MRI. Family history was negative for hypertension, PHEO or other neuroendocrine tumours.

      PatientID: 3

      KindredID: 3

      Case: M, 15Y0M, Ethnicity Unknown

      DiseaseAssertion: adrenal pheochromocytoma

      FamilyInfo: None - The family history was negative for hypertension, PHEO or other neuroendocrine tumours. Their parents however, decided not to be tested neither to extend the test to other family members

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: Apparently sporadic pheo. He had a history of occipital headache, slightly elevated blood pressure with normal ophthalmological examination for 2 months was found to have a 4-cm-diameter left adrenal mass at MRI, being the abdominal sonography negative. He underwent surgery of the pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHB, SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.D197N (c.589G>A)

      LegacyVariant: p.D197N (g.13,278)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756524 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.589G%3EA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: D197N (c.589G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant NonFamilial DiseaseEntity:adrenalpheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:D197N(c.589G>A) cDNAposition:589 ProteinPosition:197 AminoAcidChange:ASPtoASN MutationType:missense_variant;transition CAID:CA351756524 ClinVarID:N/A PreviousTesting:RET/SDHB/SDHD ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary-wiley-com.uhn.idm.oclc.org/doi/full/10.1111/cen.12032
  5. Oct 2026
  6. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas
    1
    1. ClingenBaseline 25 Oct 2026

      PatientID: 3

      KindredID: K-V7/V6

      Case: M, Age Unknown, Korean

      DiseaseAssertion: VHL

      FamilyInfo: The proband (ID 1) was affected with retinal hemangioblastoma, bilateral pheochromocytoma, and pancreatic tumor. The daughter (ID 2) was affected with retinal hemangioblastoma and bilateral pheochromocytoma. The son (ID 3) was affected with retinal hemangioblastoma. All three were positive for the D121N (c.361G>A) germline variant of the VHL gene.

      CasePresentingHPOs: HP:0009711 (Retinal capillary hemangioma)

      CaseHPOFreeText: Retinal hemangioblastomas, pancreatic tumor and bilateral pheochromocytoma. Diagnosed with VHL type 2.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.D121N (c.361G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351753750, https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA351753750

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: D121N (c.361G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:retinalcapillaryhemangioma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:361 ProteinPosition:121 AminoAcidChange:ASPtoASN ClinVarID:N/A CAID:CA351753750 MutationType:missense_variant;transition CivicName:D121N(c.361G>A) Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/16142346/
  7. onlinelibrary-wiley-com.uhn.idm.oclc.org onlinelibrary-wiley-com.uhn.idm.oclc.org
    A new germline VHL gene mutation in three patients with apparently sporadic pheochromocytoma
    1
    1. ClingenBaseline 24 Oct 2026
      Patient 2 A 17-year-old girl with a history of primitive headache, intense nocturnal sweating and 2-month-long amenorrhoea and elevated blood pressure presented a 7-cm-diameter right adrenal mass at abdominal sonography, confirmed by MRI. The mass showed inhomogeneous density: hypodensity in T1 and hyperdensity in T2 and after Gadolinium contrast. Immunometric assays indicated very high levels of chromogranin A (242 UI/L; NR 2–18) and catecholamines: noradrenaline levels were 14·460 nmol/day (NR: 90–470), and adrenaline and dopamine levels were in the normal range. A 123I-MIBG scintigraphy showed a high tracer uptake in right adrenal gland, as expected. The patient underwent surgical removal of the mass, which was 8 × 6 × 5 cm in size. Immunohistochemical assays indicated that the tumour was positive for chromogranin A and synaptophysin, compatible with a diagnosis of PHEO. Follow-up blood test after 2 years was within normal limits, except for a still moderate elevated CgA (67 UI/L, NR 2–18). The family history was negative for PHEO or other neuroendocrine tumours.

      PatientID: 2

      KindredID: 2

      Case: F, 17Y0M, Ethnicity Unknown

      DiseaseAssertion: adrenal pheochromocytoma

      FamilyInfo: None - The family history was negative for PHEO or other neuroendocrine tumours. Their parents however, decided not to be tested neither to extend the test to other family members

      CasePresentingHPOs: HP:0006748 (adrenal pheochromocytoma)

      CaseHPOFreeText: Apparently sporadic pheo. She had a history of primitive headache, intense nocturnal sweating and 2-month-long amenorrhoea and elevated blood pressure presented a 7-cm-diameter right adrenal mass at abdominal sonography, confirmed by MRI.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHB, SDHD

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.D197N (c.589G>A)

      LegacyVariant: p.D197N (g.13,278)

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756524 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.589G%3EA

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: D197N (c.589G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant NonFamilial Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:adrenalpheochromocytoma MutationType:missense_variant;transition cDNAposition:589 CivicName:D197N(c.589G>A) ProteinPosition:197 AminoAcidChange:ASPtoASN CAID:CA351756524 ClinVarID:N/A ExperimentalAssay PreviousTesting:RET/SDHB/SDHD inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary-wiley-com.uhn.idm.oclc.org/doi/full/10.1111/cen.12032