Source:http://linkedlifedata.com/resource/pubmed/id/15772467
Switch to
Predicate | Object |
---|---|
rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
|
pubmed:dateCreated |
2005-3-17
|
pubmed:abstractText |
Von Hippel-Lindau disease (VHL) is an autosomal dominant multisystemic cancer syndrome due to a mutation of the VHL tumor suppressor gene on chromosome 3, region p25-26, with an incidence of 1/36,000 in newborns. Patients are at risk of developing cerebellar, spinal and retinal hemangioblastoma, renal cell carcinoma, pheochromocytoma, pancreatic neuroendocrine tumors, pancreatic and renal cysts, and epididymal cystadenoma. The most common causes of death from VHL are metastases from renal cell carcinoma and neurological complications from cerebellar hemangioblastomas. Molecular analysis of the VHL gene is clinically available and indicated in patients with known or suspected VHL.
|
pubmed:language |
eng
|
pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:status |
MEDLINE
|
pubmed:month |
Mar
|
pubmed:issn |
0378-584X
|
pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
28
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
159-63
|
pubmed:dateRevised |
2007-11-15
|
pubmed:meshHeading |
pubmed-meshheading:15772467-Adult,
pubmed-meshheading:15772467-Diagnosis, Differential,
pubmed-meshheading:15772467-Diagnostic Errors,
pubmed-meshheading:15772467-Female,
pubmed-meshheading:15772467-Humans,
pubmed-meshheading:15772467-Physician's Practice Patterns,
pubmed-meshheading:15772467-Practice Guidelines as Topic,
pubmed-meshheading:15772467-Rare Diseases,
pubmed-meshheading:15772467-von Hippel-Lindau Disease
|
pubmed:year |
2005
|
pubmed:articleTitle |
Von Hippel-Lindau disease--a rare disease important to recognize.
|
pubmed:affiliation |
Department of Medical Oncology, Antoni van Leeuwenhoek Hospital / The Netherlands Cancer Institute, Amsterdam, The Netherlands.
|
pubmed:publicationType |
Journal Article,
Review,
Case Reports,
Research Support, Non-U.S. Gov't
|