Preferred Label : Von Hippel Lindau Syndrome;
NCIt synonyms : Cerebroretinal Angiomatosis; Von Hippel-Lindau Syndrome (VHL);
NCIt related terms : VHL syndrome; Von Hippel-Lindau Disease; Von Hippel-Lindau Syndrome;
CISMeF acronym : VHL;
NCIt definition : An inherited familial cancer syndrome which is characterized by development of capillary
hemangioblastomas of the central nervous system and retina; clear cell renal carcinoma;
pheochromocytoma; pancreatic tumors; and inner ear tumors. The syndrome is associated
with germline mutations of the VHL tumor suppressor gene, located on chromosome 3p25-26.
Symptoms of VHL syndrome may not be apparent until the third decade of life. CNS hemangioblastoma
is the most common cause of death, followed by clear cell renal cell carcinoma. --2004;
Alternative definition : NICHD: An autosomal dominant multiple neoplasia syndrome caused by germline mutations
of the VHL gene, encoding the protein von Hippel-Lindau tumor suppressor (pVHL). The
condition is characterized by development of capillary hemangioblastomas of the central
nervous system and retina, clear cell renal carcinoma, pheochromocytoma, pancreatic
tumors, and inner ear tumors (endolymphatic sac tumors).; NCI-GLOSS: A rare inherited disorder in which blood vessels grow abnormally in the
eyes, brain, spinal cord, adrenal glands, or other parts of the body. People with
von Hippel-Lindau syndrome have a higher risk of developing some types of cancer.;
Codes from synonyms : CDR0000575486; CDR0000045563;
Origin ID : C3105;
UMLS CUI : C0019562;
- Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Semantic type(s)
- UMLS correspondences (same concept)
- associated_with_malfunction_of_gene_product
- concept_is_in_subset
- disease_has_associated_disease
- disease_has_finding
- disease_has_molecular_abnormality
- disease_mapped_to_chromosome
- disease_mapped_to_gene
- disease_may_have_associated_disease
- may_be_associated_disease_of_disease
- pathogenesis_of_disease_involves_gene
- related_to_genetic_biomarker