3 Matching Annotations
  1. Last 7 days
  2. journals.lww.com journals.lww.com
    Endolymphatic Sac Tumors in von Hippel-Lindau Disease:... : Otology & Neurotology
    2
    1. ClingenBaseline 09 Nov 2026
      A missense germline mutation in exon 1of the VHL gene was identified in the patient (p. Asp92Gly). The patient's family members (parents and 2 daughters aged 10 and 5 yr) then underwent genetic testing. The mutation was found in the youngest daughter. Full evaluation of the positive carrier did not reveal any tumor localization.

      PatientID: None (daughter)

      KindredID: 1

      Case: F, 5Y0M, ethnicity unknown

      DiseaseAssertion: asymptomatic

      FamilyInfo: The patient's family members (grandparents, mother (33Y0M; Case 1) and sister (10Y0M) underwent genetic testing. Sister and grandparents were not positive, however mother was found positive with the same mutation.

      CasePresentingHPOs: None

      CaseHPOFreeText: Full evaluation did not reveal any tumor localization.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.D92G (c.275A>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA351750765 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.275A%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant;transition

      CivicName: D92G (c.275A>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:asymptomatic Mutation:Germline AssumedRefSeq:NM_000551.3 CivicName:D92G(c.275A>G) ProteinPosition:92 cDNAposition:275 AminoAcidChange:ASPtoGLY MutationType:missense_variant;transition CAID:CA351750765 ClinVarID:N/A InheritancePattern:AutosomalDominant Familial inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
    2. ClingenBaseline 08 Nov 2026
      Case 1 A 33-year-old woman with no unusual medical history presented in November 1999 with an 8-month history of right-sided otalgia and progressive hearing loss. Otoscopic examination revealed a reddish, raspberry-like hypotympanic mass behind a normal tympanic membrane. Audiometry revealed complete hearing loss of the right ear. Computed tomographic (CT) scan and magnetic resonance imaging (MRI) revealed lysis of the posterior face of the petrous pyramid by a voluminous heterogenous mass invading the infralabyrinthine and retrolabyrinthine regions (Fig. 1, A and B) and the posterior cranial fossa (Fig. 1, C and D) and an infracentimetric hypervascular lesion in the right cerebellum highly suggestive of a hemangioblastoma. These findings evoked the diagnosis of ELST associated with VHL disease.

      PatientID: 1

      KindredID: 1

      Case: F, 33Y0M, ethnicity unknown

      DiseaseAssertion: assumed VHL

      FamilyInfo: The patient's family members (parents and 2 daughters aged 10 and 5 yr) underwent genetic testing. The same mutation was found in the youngest daughter, although full evaluation did not reveal any tumor localization.

      CasePresentingHPOs: HP:0030393; HP:0000107; HP:0009726; HP:0001737; HP:0006880 (endolymphatic sac tumour; renal cyst; renal neoplasm; pancreatic cysts; cerebellar hemangioblastoma)

      CaseHPOFreeText: hypotympanic mass was found behind a normal tympanic membrane. Audiometry revealed complete hearing loss of the right ear - CT and MRI revealed lysis of the posterior face of the petrous pyramid by a voluminous heterogenous mass invading the infralabyrinthine and retrolabyrinthine regionsand the posterior cranial fossa, and an infracentimetric hypervascular lesion in the right cerebellum highly suggestive of a hemangioblastoma. These findings evoked the diagnosis of ELST associated with VHL disease. Abdominal ultrasonography and MRI of the patient showed multiple pancreatic cysts but no renal or adrenal gland abnormalities. Regular medical follow-up 4 years after the discovery of the disease showed a right renal cyst and centimetric tumor of the left kidney.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.D92G (c.275A>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA351750765 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.275A%3EG

      gnomAD: N/A

      VariantEvidence: Histopathology showed a low-grade papillary adenocarcinoma of the endolymphatic sac, with strong immunoreactivity for cytokeratin (KL1), vimentin, and neuron-specific enolase and low immunoreactivity for epithelial membrane antigen.

      MutationType: missense_variant;transition

      CivicName: D92G (c.275A>G)

      MultipleGeneVariants: N/A

      DiseaseEntity:VHL DiseaseEntity:endolymphaticsactumor DiseaseEntity:renalcyst DiseaseEntity:renalneoplasm DiseaseEntity:pancreaticcysts DiseaseEntity:cerebellarhemangioblastoma CivicName:D92G(c.275A>G) cDNAposition:275 ProteinPosition:92 MutationType:missense_variant;transition AminoAcidChange:ASPtoGLY AssumedRefSeq:NM_000551.3 Mutation:Germline InheritancePattern:DeNovoAssertion Familial ExperimentalAssay inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    journals.lww.com/otology-neurotology/fulltext/2010/06000/endolymphatic_sac_tumors_in_von_hippel_lindau.20.aspx
  3. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Characterization of endolymphatic sac tumors and von Hippel–Lindau disease in the International Endolymphatic Sac Tumor Registry
    1
    1. ClingenBaseline 04 Nov 2026
      1 France c.275A>G p.Asp92Gly

      GroupID: 8

      Case: Sex unknown, Age unknown, French

      DiseaseAssertion: VHL

      FamilyInfo: Unknown. 1 registrant was found with this variant; no family info was mentioned

      CasePresentingHPOs: HP:0030393 (Endolymphatic sac tumor)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      PreviouslyPublished: N/A

      SupplementalData: N/A

      Variant: p.D92G (c.275A>G)

      CaseProblemVariantFreeText: N/A

      LegacyVariant: N/A

      ClinVarID: N/A

      CAID: CA351750765 http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvsOrDescriptor=NM_000551.3%3Ac.275A%3EG

      gnomAD: N/A

      VariantEvidence: N/A

      MutationType: missense_variant; transition

      CivicName: D92G (c.275A>G)

      MultipleGeneVariants: N/A

      CAID:CA351750765 ClinVarID:N/A MutationType:missense_variant;transition AminoAcidChange:ASPtoGLY ProteinPosition:92 CivicName:D92G(c.275A>G) cDNAposition:275 DiseaseEntity:endolymphaticsactumor Ethnicity:French DiseaseEntity:VHL Mutation:Germline RefSeq:NM_000551.3 inferred_gene_hgnc:12687 inferred_gene_source:CAID VHL Hypothesis Annotation
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    onlinelibrary.wiley.com/doi/full/10.1002/hed.24067