Von Hippel-lindau Disease

Description

Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.

Clinical Features

Top most frequent phenotypes and symptoms related to Von Hippel-lindau Disease

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Neoplasm
  • Sensorineural hearing impairment
  • Cataract
  • Visual impairment
  • Hypertension
  • Gait disturbance
  • Hydrocephalus

And another 32 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Von Hippel-lindau Disease Is also known as familial cerebelloretinal angiomatosis, von hippel-lindau syndrome, lindau disease, vhl.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Von Hippel-lindau Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
VHL Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

VHL
Specificity
100 %
Genes
100 %
VHL Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

VHL
Specificity
100 %
Genes
100 %
VHL Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

VHL
Specificity
100 %
Genes
100 %
VHL Deletion/Duplication Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

VHL
Specificity
100 %
Genes
100 %
VHL Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

VHL
Specificity
100 %
Genes
100 %
VHL Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

VHL
Specificity
100 %
Genes
100 %
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Hereditary Brain, CNS, PNS Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

TP53, VHL, SUFU, PALB2, ALK, APC, MEN1, MLH1, MRE11, MSH2, MSH6, NBN, NF2, ATM, PMS2, PHOX2B, PTCH1
Specificity
6 %
Genes
100 %

You can get up to 231 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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