KEGG   DISEASE: von Hippel-Lindau syndromeHelp
Entry
H00559                      Disease                                

Name
von Hippel-Lindau syndrome
Description
von Hippel-Lindau syndrome is an autosomal dominant disorder associated with tumors in the central nervous system and other organs. The most frequent tumors are cerebellar and retinal haemangioblastomas, pancreatic neuroendocrine tumors, renal cell carcinoma, phaeochromocytoma in the adrenal gland, epididymal cystadenoma, and endolymphatic sac tumours. Germline inactivation of VHL tumor suppressor protein leads to the upregulation of HIF and promotes to carcinogenesis.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00559  von Hippel-Lindau syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2D  Phakomatoses or hamartoneoplastic syndromes
    H00559  von Hippel-Lindau syndrome
BRITE hierarchy
Pathway
hsa04120  Ubiquitin mediated proteolysis
hsa05200  Pathways in cancer
hsa05211  Renal cell carcinoma
Gene
VHL [HSA:7428] [KO:K03871]
CCND1 (polymorphism) [HSA:595] [KO:K04503]
Other DBs
ICD-11: LD2D.Y
ICD-10: Q85.8
MeSH: D006623
OMIM: 193300
Reference
  Authors
Maher ER, Neumann HP, Richard S
  Title
von Hippel-Lindau disease: a clinical and scientific review.
  Journal
Eur J Hum Genet 19:617-23 (2011)
DOI:10.1038/ejhg.2010.175
Reference
  Authors
Shuin T, Yamasaki I, Tamura K, Okuda H, Furihata M, Ashida S
  Title
Von Hippel-Lindau disease: molecular pathological basis, clinical criteria, genetic testing, clinical features of tumors and treatment.
  Journal
Jpn J Clin Oncol 36:337-43 (2006)
DOI:10.1093/jjco/hyl052
Reference
  Authors
Kim WY, Kaelin WG.
  Title
Role of VHL gene mutation in human cancer.
  Journal
J Clin Oncol 22:4991-5004 (2004)
DOI:10.1200/JCO.2004.05.061
Reference
  Authors
Zatyka M, da Silva NF, Clifford SC, Morris MR, Wiesener MS, Eckardt KU, Houlston RS, Richards FM, Latif F, Maher ER
  Title
Identification of cyclin D1 and other novel targets for the von Hippel-Lindau tumor suppressor gene by expression array analysis and investigation of cyclin D1 genotype as a modifier in von Hippel-Lindau disease.
  Journal
Cancer Res 62:3803-11 (2002)
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