Von Hippel Lindau Syndrome

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;

Details

Origin ID

C3105;

UMLS CUI

C0019562;

Automatic exact mappings (from CISMeF team)
- Other phakomatoses, not elsewhere classified [ICD-10 Sub-category]
- Von hippel-lindau tumor suppressor [OMIM gene]
- von Hippel-Lindau tumor suppressor [ORDO Gene]
Currated CISMeF NLP mapping
- Von Hippel-Lindau disease [PASCAL descriptor]
- Von Hippel-Lindau disease [ICD-11 More detail]
- Von Hippel-Lindau disease [MedDRA Preferred Term]
- Von Hippel-Lindau disease [ORDO Disease]
- Von Hippel-Lindau syndrome (disorder) [SNOMED CT concept]
- Von hippel-lindau syndrome [OMIM Phenotype]
- von Hippel Lindau disease [Disease (Nov.)]
- von Hippel-Lindau disease [DO Concept]
- von Hippel-Lindau disease [MeSH Descriptor]
- von Hippel-Lindau disease [MeSH concept]
- von hippel-lindau disease [MedlinePlus Topic]
- von hippel-lindau syndrome [SNOMED Notion]
DO Cross reference
- von Hippel-Lindau disease [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Von Hippel-Lindau disease [ORDO Disease]
- Von Hippel-Lindau disease [PASCAL descriptor]
- Von Hippel-Lindau disease [ICD-11 More detail]
- Von Hippel-Lindau disease [MedDRA Preferred Term]
- Von Hippel-Lindau syndrome (disorder) [SNOMED CT concept]
- Von hippel-lindau syndrome [OMIM Phenotype]
- von Hippel Lindau disease [Disease (Nov.)]
- von Hippel-Lindau disease [DO Concept]
- von Hippel-Lindau disease [MeSH Descriptor]
- von Hippel-Lindau disease [MeSH concept]
- von hippel-lindau disease [MedlinePlus Topic]
- von hippel-lindau syndrome [SNOMED Notion]
associated_with_malfunction_of_gene_product
- Von Hippel-Lindau Disease Tumor Suppressor [NCIt concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
disease_excludes_molecular_abnormality
- BMPR1A Gene Mutation [NCIt concept]
- PTCH1 Gene Mutation [NCIt concept]
- PTEN Gene Mutation [NCIt concept]
- SMAD4 Gene Mutation [NCIt concept]
- STK11 Gene Mutation [NCIt concept]
disease_has_associated_disease
- Hamartoma [NCIt concept]
disease_has_associated_disease
- Uterine Ligament Papillary Cystadenoma Associated with von Hippel-Lindau Disease [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- VHL Gene Inactivation [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 3 [NCIt concept]
disease_mapped_to_gene
- VHL Gene [NCIt concept]
disease_may_have_associated_disease
- Adrenal Gland Pheochromocytoma [NCIt concept]
- Central Nervous System Hemangioblastoma [NCIt concept]
- Clear Cell Renal Cell Carcinoma [NCIt concept]
- Inner Ear Neoplasm [NCIt concept]
- Pancreatic Neuroendocrine Neoplasm [NCIt concept]
- Retinal Hemangioblastoma [NCIt concept]
may_be_associated_disease_of_disease
- Brain Stem Hemangioblastoma [NCIt concept]
- Central Nervous System Hemangioblastoma [NCIt concept]
- Cerebellar Hemangioblastoma [NCIt concept]
- Cerebral Hemangioblastoma [NCIt concept]
- Clear Cell Papillary Renal Tumor [NCIt concept]
- Medullary Hemangioblastoma [NCIt concept]
- Retinal Hemangioblastoma [NCIt concept]
- Spinal Hemangioblastoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- VHL Gene [NCIt concept]
- VHL wt Allele [NCIt concept]
related_to_genetic_biomarker
- VHL Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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