Von Hippel-lindau Syndrome; Vhl

Description

Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors.Neumann and Wiestler (1991) classified VHL as type 1 (without pheochromocytoma) and type 2 (with pheochromocytoma). Brauch et al. (1995) further subdivided VHL type 2 into type 2A (with pheochromocytoma) and type 2B (with pheochromocytoma and renal cell carcinoma). Hoffman et al. (2001) noted that VHL type 2C refers to patients with isolated pheochromocytoma without hemangioblastoma or renal cell carcinoma. McNeill et al. (2009) proposed that patients with VHL syndrome caused by large VHL deletions that include the HSPC300 gene (C3ORF10 ) have a specific subtype of VHL syndrome characterized by protection from renal cell carcinoma, which the authors proposed be named VHL type 1B.Nordstrom-O'Brien et al. (2010) provided a review of the genetics of von Hippel-Lindau disease.

Clinical Features

Top most frequent phenotypes and symptoms related to Von Hippel-lindau Syndrome; Vhl

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Pain
  • Hypertension
  • Hydrocephalus
  • Edema
  • Blindness
  • Dilatation
  • Visual loss

And another 42 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

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.


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Von Hippel-lindau Syndrome; Vhl 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
50 %
VHL Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

VHL
Specificity
100 %
Genes
50 %
VHL Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

VHL
Specificity
100 %
Genes
50 %
VHL Deletion/Duplication Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

VHL
Specificity
100 %
Genes
50 %
VHL Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

VHL
Specificity
100 %
Genes
50 %
VHL Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

VHL
Specificity
100 %
Genes
50 %
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
50 %
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
50 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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