8 Matching Annotations
  1. Last 7 days
  2. onlinelibrary-wiley-com.ezproxy.lib.ryerson.ca onlinelibrary-wiley-com.ezproxy.lib.ryerson.ca
    von Hippel-Lindau development in children and adolescents
    1
    1. ClingenBaseline 03 Nov 2026
      II 8 53 2 pheo (8 years) 2 CNS hb (12 + 13 years) 2 retinal hb (8 + 12 years) M c.496G > T (p.Val166Phe)

      PatientID: II

      KindredID: 15

      Case: Sex Unknown, 53Y0M, Danish

      DiseaseAssertion: VHL

      FamilyInfo: 2 other family members presented with the same VHL variant. Patient 15-I was asymptomatic. Patient 15-III presented with 2 pheochromocytoma (15Y).

      CasePresentingHPOs: HP:0002666; HP:0010797; HP:0009711 (Pheochromocytoma, Hemangioblastoma, Retinal capillary hemangioma)

      CaseHPOFreeText: Diagnosed with VHL at age 8Y. Presented with 2 pheochromocytoma (8Y) 2 CNS hb (12Y and 13Y) and 2 retinal hemangioblastomas (8Y, 12Y). Age at the end of study: 53Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.V166F (c.496G>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2224, https://www.ncbi.nlm.nih.gov/clinvar/variation/2224/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: V166F (c.496G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Danish DiseaseEntity:VHL DiseaseEntity:hemangioblastoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:pheochromocytoma AgeOfPresentation:hemangioblastoma:12 AgeOfPresentation:hemangioblastoma:13 AgeOfPresentation:retinalcapillaryhemangioma:8 AgeOfPresentation:retinalcapillaryhemangioma:12 AgeOfPresentation:pheochromocytoma:8 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:496 ProteinPosition:166 AminoAcidChange:VALtoPHE ClinVarID:2224 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:V166F(c.496G>T) Familial inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    onlinelibrary-wiley-com.ezproxy.lib.ryerson.ca/doi/full/10.1002/ajmg.a.38324
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Synonymous but Not Silent: A Synonymous VHL Variant in Exon 2 Confers Susceptibility to Familial Pheochromocytoma and von Hippel-Lindau Disease
    1
    1. ClingenBaseline 01 Nov 2026
      unilateral PHEOs (Fig. 1a): her father (II:1) at age 73, her 34-year-old brother (III:2), her paternal aunt in her 40s (II:4), and the aunt’s 12-year-old son (III:7)

      PatientID: III:7

      KindredID: 1

      Case: M, 12Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Look to proband (III:3) for extensive family info.

      CohortInfo: Patients with the diagnosis of familial or sporadic PHEO and their relatives.

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Unilateral pheochromocytoma diagnosed at age 12.

      CaseNotHPOs: HP:0005584 (Renal cell carcinoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Figure 1

      Variant: p.P138= (c.414A>G)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 223206, https://www.ncbi.nlm.nih.gov/clinvar/variation/223206/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: P138= (c.414A>G)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:12 Mutation:Germline RefSeq:NM_000551.3 cDNAposition:414 ProteinPosition:138 AminoAcidChange:PROtoPRO ClinVarID:223206 ClinVarID:Yes MutationType:missense_variant;transition FamilyPedigree Familial SupplementalData CivicName:P138=(c.414A>G) inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6660912/
  4. Oct 2026
  5. erc.bioscientifica.com erc.bioscientifica.com
    Genetics of pheochromocytoma and paraganglioma in Spanish pediatric patients
    1
    1. ClingenBaseline 29 Oct 2026
      813MPCC–NENorA, cH (12 years)VHLc.500G>Abp.(Arg167Gln)

      PatientID: 8

      KindredID: 4

      Case: M, 13Y0M, Spanish

      DiseaseAssertion: VHL

      FamilyInfo: None

      CohortInfo: 36 pediatric patients with pheochromocytomas and/or parangangliomas.

      CasePresentingHPOs: HP:0002666, HP:0009711, HP:0006880 (pheochromocytoma, retinal capillary hemangioma, cerebellar hemangioblastoma)

      CaseHPOFreeText: The patient had a benign pheochromocytoma that was secreting norepinephrine at age 13. The patient had a retinal angioma and cerebellar hemangioma at age 12.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

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

      PreviouslyPublished: Yes source unknown.

      SupplementalData: N/A

      Variant: p.R167Q (c.500G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVar: 2216 https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

      CAID: N/A

      gnomAD: 0.000003977 https://gnomad.broadinstitute.org/variant/3-10191507-G-A

      VariantEvidence:N/A

      MutationType: missense_variant;transition

      CivicName: R167Q (c.500 G >A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant AssumedRefSeq:NM_000551.3 Mutation:Germline DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma DiseaseEntity:cerebellarhemangioblastoma AgeOfPresentation:pheochromocytoma:13 AgeOfPresentation:RetinalCapillaryHemangioma:12 AgeOfPresentation:cerebellarhemangioblastoma:12 NonFamilial PreviousTesting:RET/SDHA/SDHB/SDHC/SDHD/SDHAF2/TMEM127/MAX ClinVarID:2216 ClinVarID:Yes CivicName:R167Q(c.500G>A) cDNAposition:500 ProteinPosition:167 AminoAcidChange:ARGtoGLN MutationType:missense_variant;transition DiseaseEntity:VHL Ethnicity:Spanish inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    erc.bioscientifica.com/view/journals/erc/20/3/L1.xml
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Identification of a VHL gene mutation in atypical Von Hippel-Lindau syndrome: genotype-phenotype correlation and gene therapy perspective
    1
    1. ClingenBaseline 24 Oct 2026
      Case presentationFirst onsetA 19-years-old female was first found with occupation about 6.2 cm × 5.7 cm in the right adrenal five years ago based on CT scan at a regular physical examination, accompanied with fever and headache with high blood pressure. Tumor resection was performed, and pathological diagnosis was right pheochromocytoma. The patient was regularly subjected to follow-up.Secondary onsetDuring this hospitalization, CT scan found multiple tumor occupation in left adrenal and paraganglion region zones with round nodular shadows. Meanwhile, she had fever and headache with high blood pressure. Based on medical history and examination, she was diagnosed as left pheochromocytoma. Meanwhile, the occupying lesions in right lung and pancreas were found, located in extrabasal segment of inferior lobar and head respectively.Case characteristicsThe case characteristics were summarized: 1. A 12y female; 2. Tumor occupation was first found in right adrenal; 3. Tumor resection was performed and the pathological diagnosis was pheochromocytoma; 4. Multiple round nodular shadows were found in left adrenal and paraganglion region zones after five years; 6. The symptoms were fever and headache with high blood pressure; 7. The diagnosis was pheochromocytoma (PCC) and paraganglioma (PGL) (Combined PPGLs); 8. The occupying lesions located in right lung and pancreas were scanned and diagnosed with masses.Diagnostic methodThe patient was followed up regularly. Based on personal medical history, symptoms and imaging examinations, the patient was diagnosed as PPGLs combined with right lung and pancreas occupation.Multidisciplinary team discussion based on professional board indicated the following views: (1) The diagnosis was possibly considered as atypical VHL type II. Further qualitative diagnosis relied on genetic examination; (2) Other lesions like retina tumor should be examined. (3) PPGLs was surgically resected for pursuing pathological diagnosis. (4) The occupying lesions in right lung and pancreas were performed with puncture biopsy for further diagnosis. The diagnosis and treatment workflow were shown in Fig. 1.

      PatientID: 1 (case)

      KindredID: 1

      Case: F, 19Y0M, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0006748; HP:0002666; HP:0030445; HP:0030405 (adrenal pheochromocytoma; pheochromocytoma; Pulmonary carcinoid tumor; Pancreatic endocrine tumor)

      CaseHPOFreeText: At 12 years old, a female patient presented with fever and headache with high blood pressure. Upon a CT scan, a right adrenal tumor was detected and tumor resection was performed, revealing a pathological diagnosis of pheochromocytoma. Upon further review, a CT scan found multiple tumors in left adrenal and paraganglion region zones with round nodular shadows. She was diagnosed with pheochromocytoma (PCC) and paraganglioma (PGL). A lung puncture revealed a carcinoid and a pancreatic puncture indicates a neuroendocrine tumor. Left adrenalectomy and PPGL resection was performed and diagnosis was pathologically confirmed

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting:

      PreviouslyPublished: N/A

      SupplementalData: Yes (somatic info)

      Variant: p.R167Q (c.500G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 2216, https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

      CAID: N/A

      gnomAD: 0.000003977, https://gnomad.broadinstitute.org/variant/3-10191507-G-A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: R167Q (c.500G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Mutation:Germline RefSeq:NM_000551.3 DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:pheochromocytoma DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:pulmonarycarcinoidtumor AgeOfPresentation:adrenalpheochromocytoma:12 AgeOfPresentation:pancreaticendocrinetumor:12 AgeOfPresentation:pulmonarycarcinoidtumor:12 AgeOfPresentation:pheochromocytoma:12 cDNAposition:500 MutationType:missense_variant;transition AminoAcidChange:ARGtoGLN ProteinPosition:167 CivicName:R167Q(c.500G>A) ClinVarID:2216 ClinVarID:Yes MultipleGeneVariants NoFamilyInfo SupplementalData PreviousTesting:MAX/NF1/RET/SDHB/SDHC/SDHD/SDHAF2 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC8684656/
  7. onlinelibrary-wiley-com.uhn.idm.oclc.org onlinelibrary-wiley-com.uhn.idm.oclc.org
    The genomic landscape of phaeochromocytoma
    1
    1. ClingenBaseline 23 Oct 2026
      All germline mutations in VHL,

      PatientID: V-PH-05T

      KindredID: 3

      Case: F, 27Y0M, Ethnicity Unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: No familial cancers/syndromic illnesses

      CasePresentingHPOs: HP:0002666; HP:0009711 (pheochromocytoma, retinal capillary hemangioma)

      CaseHPOFreeText: diagnosed with recurrent phaeochromocytoma at age 12Y, surgery at 27Y. She also had a personal history of angioma of the right eye, laparotomy & numerous thyrocotomies, and a history of hypertension. Presence of elevated catecholamines, but no further details.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET, SDHA, SDHB, SDHC, TMEM127

      PreviouslyPublished: 26796762

      SupplementalData: Yes (see table S1 and S10)

      Variant: p.T157I (c.470C>T)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: Stated as ENSP00000256474.2:p.Thr157Ile

      ClinVarID: 223223 https://www.ncbi.nlm.nih.gov/clinvar/variation/223223/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: T157I (c.470C>T)

      MultipleGeneVariants: Germline, SDHA, c.113A>T (p.Asp38Val)

      InheritancePattern:AutosomalDominant DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:pheochromocytoma:12 NonFamilial Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:157 CivicName:T157I(c.470C>T) cDNAposition:470 AminoAcidChange:THRtoILE MutationType:missense_variant;transition ClinVarID:223223 ClinVarID:Yes SupplementalData MultipleGeneVariants PreviousTesting:RET/SDHA/SDHB/SDHC/TMEM127 inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    onlinelibrary-wiley-com.uhn.idm.oclc.org/doi/full/10.1002/path.4503
  8. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations
    1
    1. ClingenBaseline 23 Oct 2026
      10412Y12Y13NNNNNc.500G>AExon 3p.Arg167GlnMissense

      PatientID: 10

      KindredID: 4

      Case: M, 13Y0M, Ethnicity Unknown

      DiseaseAssertion: VHL

      FamilyInfo: Four other family members were found to have the same mutation (Patients 6,7,8,9).

      CasePresentingHPOs: HP:0002668, HP:0002666, HP:0030405 (Paraganglioma, pheochromocytoma, pancreatic endocrine tumor)

      CaseHPOFreeText: The patient was diagnosed with a pancreatic endocrine tumor at age 13 it was found to be 0.7cm in size. He was diagnosed with pheochromocytoma and paraganglioma at age 12. He was found to have a right side pheochromocytoma measuring 5.5 cm and a left side pheochromocytoma measuring 1.5 cm. He was also found to have a paraganglioma measuring 2.2 cm.

      CaseNotHPOs: HP:0009711, HP:0001737, HP:0000107, HP:0005584, HP:0010797 (retinal capillary hemangioma, pancreatic cysts, renal cyst, renal cell carcinoma, hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.R167Q (c.500G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVar: 2216 https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/

      CAID: N/A

      gnomAD: 0.000003977 https://gnomad.broadinstitute.org/variant/3-10191507-G-A

      VariantEvidence:N/A

      MutationType: missense_variant;transition

      CivicName: R167Q (c.500 G >A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:Paraganglioma DiseaseEntity:pheochromocytoma DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pheochromocytoma:12 AgeofPresentation:Paraganglioma:12 AgeOfPresentation:pancreaticendocrinetumor:13 Mutation:Germline MutationType:missense_variant;transition AssumedRefSeq:NM_000551.3 CivicName:R167Q(c.500G>A) cDNAposition:500 ProteinPosition:167 AminoAcidChange:ARGtoGLN ClinVarID:2216 ClinVarID:Yes Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6735756/
  9. onlinelibrary-wiley-com.ezproxy.lib.ryerson.ca onlinelibrary-wiley-com.ezproxy.lib.ryerson.ca
    von Hippel-Lindau development in children and adolescents
    1
    1. ClingenBaseline 21 Oct 2026
      IV 10 21 2 pheo (12 years) 1 retinal hb (10 years) M c.278G > A (p.Gly93Asp)

      PatientID: IV

      KindredID: 3

      Case: Sex Unknown, 21Y0M, Danish

      DiseaseAssertion: VHL

      FamilyInfo: 3 other family members presented with his VHL mutation. Patient 3-I was asymptomatic. Patients 3-II and 3-III both presented with pheochromocytoma at 15Y.

      CasePresentingHPOs: HP:0002666; HP:0009711 (Pheochromocytoma, Retinal capillary hemangioma)

      CaseHPOFreeText: Diagnosed with VHL at age 10Y. Presented with pheochromocytoma at 12Y and retinal hemangioblastoma at 10Y. Age at the end of study: 21Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.G93D (c.278G>A)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 496054, https://www.ncbi.nlm.nih.gov/clinvar/variation/496054/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: G93D (c.278G>A)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Danish DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:pheochromocytoma:12 AgeOfPresentation:retinalcapillaryhemangioma:10 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:278 ProteinPosition:93 AminoAcidChange:GLYtoASP ClinVarID:496054 ClinVarID:Yes MutationType:missense_variant;transition CivicName:G93D(c.278G>A) Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    onlinelibrary-wiley-com.ezproxy.lib.ryerson.ca/doi/full/10.1002/ajmg.a.38324
  10. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical and functional properties of novel VHL mutation (X214L) consistent with Type 2A phenotype and low risk of renal cell carcinoma
    1
    1. ClingenBaseline 21 Oct 2026
      Proband's mother – 12

      PatientID: None

      KindredID: 1

      Case: F, 48Y0M, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: The patient’s aunt presented with Hodgkin’s lymphoma at 38Y and was deceased at 40Y. The patient’s father presented with liver cancer at 72Y and was deceased at 74Y. Additionally, the patient’s deceased grandfather had an unspecified cancer. The patient’s son presented with unilateral pheochromocytoma at 13Y. The patient’s daughter presented with pheochromocytoma at 12Y, and bilateral retinal hemangioblastoma, right adrenal pheochromocytoma, and islet cell neuroendocrine carcinoma of the pancreas with nodal metastasis at 20Y, and was found to carry the mutation the patient carried.

      CasePresentingHPOs: HP:0002666; HP:0009711 (Pheochromocytoma, retinal hemangioblastoma)

      CaseHPOFreeText: The patient presented with bilateral pheochromocytoma at 12Y and retinal hemangioblastoma at 13Y.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.*214Lext*14(c.641G>T)

      LegacyVariant: N/A

      ClinVarID: 223236, http://www.ncbi.nlm.nih.gov/clinvar/variation/223236

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: stop_loss

      CivicName: *214Lext*14(c.641G>T)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:retinalcapillaryhemangioma AgeOfPresentation:pheochromocytoma:12 AgeOfPresentation:retinalcapillaryhemangioma:13 Mutation:Germline RefSeq:N/A AssumedRefSeq:NM_000551.3 cDNAposition:641 ProteinPosition:214 AminoAcidChange:N/A ClinVarID:Yes ClinVarID:223236 MutationType:stop_loss CivicName:*214Lext*14(c.641G>T) FamilyPedigree Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC2958253/