6 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Genotype phenotype correlation in Asian Indian von Hippel–Lindau (VHL) syndrome patients with pheochromocytoma/paraganglioma
    1
    1. ClingenBaseline 01 Nov 2026

      PatientID: 25

      KindredID: 15

      Case: F, 31Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: Has relevant family history but details are not made available.

      CohortInfo: This retrospective study was conducted at Department of Endocrinology of a tertiary care health centre in Western India. Patients presented to our institute between 2008 and 2016 were included in the study. During the study period a total of 33 patients were suspected to have VHL syndrome based on clinical features among whom 31 patients were found to have mutation in VHL gene. All patients are of Asian Indian descent.

      CasePresentingHPOs: HP:0002666; HP:0010797; HP:0001737; HP:0030405 (Pheochromocytoma, Hemangioblastoma, Pancreatic endocrine tumor)

      CaseHPOFreeText: Unilateral pheochromocytoma.

      CaseNotHPOs: HP:0005584; HP:0002668; HP:0009711; HP:0001737 (Renal cell carcinoma, Paraganglioma, Retinal capillary hemangioma, Pancreatic cysts)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y98S (c.293A>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 219160, https://www.ncbi.nlm.nih.gov/clinvar/variation/219160/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: Y98S (c.293A>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Indian DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:hemangioblastoma DiseaseEntity:pancreaticendocrinetumor AgeOfPresentation:pheochromocytoma:31 AgeOfPresentation:hemangioblastoma:31 AgeOfPresentation:pancreaticendocrinetumor:31 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:293 ProteinPosition:98 AminoAcidChange:TYRtoSER ClinVarID:219160 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:Y98S(c.293A>C) NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/29124493/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genotype-phenotype correlations in Chinese von Hippel–Lindau disease patients
    1
    1. ClingenBaseline 31 Oct 2026

      PatientID: 104

      KindredID: 35

      Case: F, 28Y0M, Chinese

      DiseaseAssertion: VHL

      FamilyInfo: The proband, patient 104, presented with multiple pancreatic cysts/tumors at age 27. Their sister, patient 105 presented with pancreatic cysts/tumors at age 28. Their mother presented with a CNS hemangioblastoma at 45 but passed away before diagnosis/genetic testing.

      CasePresentingHPOs: HP:0001737; HP:0001732 (Pancreatic cysts, Abnormality of the pancreas)

      CaseHPOFreeText: The proband's sister presented with multiple pancreatic cysts/tumors at age 28.

      CaseNotHPOs: HP:0005584; HP:0002666; HP:0009711; HP:0010797 (Renal cell carcinoma, Pheochromocytoma, Retinal capillary hemangioma, Hemangioblastoma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: This cohort was also published in a later paper by Wang et al., 2018 (PMID: 29330336).

      SupplementalData: Patient and family genotype-phenotype information is listed in Supplementary Table 1.

      Variant: p.Y98S (c.293A>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 219160; https://www.ncbi.nlm.nih.gov/clinvar/variation/219160/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: Y98S (c.293A>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Chinese Mutation:Germline AssumedRefSeq:NM_000551.3 DiseaseEntity:VHL DiseaseEntity:abnormalityofthepancreas DiseaseEntity:pancreaticcysts AgeOfPresentation:pancreaticcysts:28 AgeOfPresentation:abnormalityofthepancreas:28 MutationType:missense_variant;transversion ClinVarID:219160 ClinVarID:Yes cDNAposition:293 ProteinPosition:98 AminoAcidChange:TYRtoSER CivicName:Y98S(c.293A>C) Familial SupplementalData inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5503545/
  4. Oct 2026
  5. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Abstracts - USICON 2018
    1
    1. ClingenBaseline 29 Oct 2026
      Result: 30 year old female presented with headache, palpitation, epistaxsis for 2 months. On examination: Bp 210/110 mmHg, physical examination unremarkable. On Investigation: Ultrasound revealed a Rt adrenal mass and a pancreatic mass, which was confirmed on a CECT abdomen pelvis. A CECT brain revealed a cerebellar haemangioblastoma. With these findings diagnosis of probable VHL made. Patient then underwent molecular genetic testing and was found to have heterozygous mutation in C293A. C in the VHL gene. Metabolic workup and Bp control was done by endocrinology After adequate BP control patient posted for adrenalectomy. Patient underwent an uneventful adrenalectomy. On HPE the diagnosis of adrenal pheochromocytoma was confirmed. Department of neurosurgery performed surgery for cebellar haemangioblastoma and in the GI surgery department were she underwent a distal pancreaticospleenectoy. Patient was then desirous of pregnancy. Department of OBG counselled her and she had a planned conception. She was managed for severe pre eclempsia, pregnancy in a fibroid uterus by OBG and endocrinology, and she delivered a healthy chid. Patient is presently a controlled hypertensive and is on regular follow up.

      PatientID: N/A (case)

      KindredID: 1

      Case: F, 30Y0M, South-Asian (Indian)

      DiseaseAssertion: VHL

      FamilyInfo: Not stated - although she was counselled through a planned conception, and she delivered a healthy child

      CasePresentingHPOs: HP:0006748; HP:0001732; HP:0006880 (adrenal pheochromocytoma; pancreatic mass; cerebellar hemangioblastoma)

      CaseHPOFreeText: Here is a case report describing a young woman presenting with hypertension, diagnosed to have VHL with right adrenal pheochromocytoma, and a pancreatic mass. Subsequent brain scan revealed a cerebellar hemangioblastoma. The patient underwent an adrenalectomy where her diagnosis was confirmed. Additionally, surgery for cebellar haemangioblastoma and distal pancreaticospleenectoy were done.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y98S (c.293A>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 219160 https://www.ncbi.nlm.nih.gov/clinvar/variation/219160/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: N/A

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:SouthAsian DiseaseEntity:VHL DiseaseEntity:adrenalpheochromocytoma DiseaseEntity:pancreaticcysts DiseaseEntity:cerebellarhemangioblastoma Mutation:Germline AssumedRefSeq:NM_000551.3 ProteinPosition:98 cDNAposition:293 CivicName:N/A MutationType:missense_variant;transversion AminoAcidChange:TYRtoSER ClinVarID:219160 ClinVarID:Yes NoFamilyInfo inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5799959/
  6. eje.bioscientifica.com eje.bioscientifica.com
    Germline mutations and genotype–phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma
    1
    1. ClingenBaseline 28 Oct 2026
      15M/12FSUnilateral PCC+sPGLRenal and pancreatic cystsFamily history+VHL1c.293A>C (Novel)p.(Tyr98Ser)Substitution (missense)Disease causing

      PatientID: 15

      KindredID: 15

      Case: M, 12Y0M, Asian Indian

      DiseaseAssertion: assumed VHL

      FamilyInfo: Positive family history

      CasePresentingHPOs: HP:0002666; HP:0002668; HP:0000107; HP:0001737 (pheochromocytoma; paraganglioma; renal cyst; pancreatic cysts)

      CaseHPOFreeText: unilateral pheochromocytoma with sympathetic paraganglioma. Renal and pancreatic cysts

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: RET/ SDHB/ SDHD/ NF1

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y98S (c.293A>C)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: 219160 https://www.ncbi.nlm.nih.gov/clinvar/variation/219160/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transversion

      CivicName: Y98S (c.293A>C)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:pheochromocytoma DiseaseEntity:paraganglioma DiseaseEntity:renalcyst DiseaseEntity:pancreaticcysts CivicName:Y98S(c.293A>C) cDNAposition:293 ProteinPosition:98 AminoAcidChange:TYRtoSER MutationType:missense_variant;transversion ClinVarID:219160 ClinVarID:Yes PreviousTesting:NF1/RET/SDHB/SDHD Ethnicity:SouthAsian Mutation:Germline Familial AssumedRefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:ClinVar VHL Hypothesis Annotation
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    eje.bioscientifica.com/view/journals/eje/175/4/311.xml
  7. www.nature.com www.nature.com
    Carbonic anhydrase 9 immunohistochemistry as a tool to predict or validate germline and somatic VHL mutations in pheochromocytoma and paraganglioma—a retrospective and prospective study
    1
    1. ClingenBaseline 26 Oct 2026

      PatientID: 47

      KindredID: 47

      Case: Sex Unknown, Age Unknown, Ethnicity Unknown

      DiseaseAssertion: Assumed VHL

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0002666 (Pheochromocytoma)

      CaseHPOFreeText: Bilateral pheochromocytoma.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: Patient information pulled from Supplemental Table 1b.

      Variant: p.Y156S (c.467A>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: N/A

      CAID: CA351756049

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: Y156S (c.467A>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant DiseaseEntity:pheochromocytoma Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:467 ProteinPosition:156 AminoAcidChange:TYRtoSER ClinVarID:N/A CAID:CA351756049 MutationType:missense_variant;transversion CivicName:Y156S(c.467A>C) NoFamilyInfo SupplementalData DiseaseEntity:AssumedVHL inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    nature.com/articles/s41379-019-0343-4
  8. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Genotype phenotype correlation in Asian Indian von Hippel–Lindau (VHL) syndrome patients with pheochromocytoma/paraganglioma
    1
    1. ClingenBaseline 25 Oct 2026

      PatientID: 10

      KindredID: 4

      Case: F, 40Y0M, Indian

      DiseaseAssertion: VHL

      FamilyInfo: 2 other members of this family presented with the same variant. Patient 9 (Gen 2) and bilateral pheochromocytoma and sympathetic paraganglioma and PNET. Another member of the family (relation unclear) presented with the same variant and bilateral pheochromocytoma and sympathetic paraganglioma, retinal angioma, neural hemangioblastomas and PNET.

      CohortInfo: This retrospective study was conducted at Department of Endocrinology of a tertiary care health centre in Western India. Patients presented to our institute between 2008 and 2016 were included in the study. During the study period a total of 33 patients were suspected to have VHL syndrome based on clinical features among whom 31 patients were found to have mutation in VHL gene. All patients are of Asian Indian descent.

      CasePresentingHPOs: HP:0002666; HP:0030405 (Pheochromocytoma, Pancreatic endocrine tumor)

      CaseHPOFreeText: Unilateral pheochromocytoma. Cause of death: metastatic PNET.

      CaseNotHPOs: HP:0009711; HP:0010797; HP:0001737; HP:0005584; HP:0002668 (Retinal capillary hemangioma, Hemangioblastoma, Pancreatic cysts, Renal cell carcinoma, Paraganglioma)

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.Y98S (c.293A>C)

      LegacyVariant: N/A

      CaseProblemVariantFreeText: N/A

      ClinVarID: 219160, https://www.ncbi.nlm.nih.gov/clinvar/variation/219160/

      CAID: N/A

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transversion

      CivicName: Y98S (c.293A>C)

      MultipleGeneVariants: N/A

      InheritancePattern:AutosomalDominant Ethnicity:Indian DiseaseEntity:VHL DiseaseEntity:pancreaticendocrinetumor DiseaseEntity:pheochromocytoma AgeOfPresentation:pheochromocytoma:40 AgeOfPresentation:pancreaticendocrinetumor:40 Mutation:Germline AssumedRefSeq:NM_000551.3 cDNAposition:293 ProteinPosition:98 AminoAcidChange:TYRtoSER ClinVarID:219160 ClinVarID:Yes MutationType:missense_variant;transversion CivicName:Y98S(c.293A>C) Familial inferred_gene_hgnc:12687 inferred_gene_source:RefSeq VHL Hypothesis Annotation
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    pubmed.ncbi.nlm.nih.gov/29124493/