Von hippel-lindau syndrome

Preferred Label : Von hippel-lindau syndrome;

Symbol : VHLS;

CISMeF acronym : VHL; VHLS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : VHL;

Included titles and symbols : Von hippel-lindau syndrome, modifiers of;

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; 611183) 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.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the von Hippel-Lindau gene (VHL, 608537.0001);

Neoplasia : Pheochromocytoma; Hemangioblastoma, sporadic cerebellar (e.g., 193300.0007); Hypernephroma; Pancreatic cancer; Paraganglioma; Adenocarcinoma of ampulla of Vater;

Prefixed ID : #193300;

Details

Origin ID

193300;

UMLS CUI

C0019562;

Automatic exact mappings (from CISMeF team)
- Other phakomatoses, not elsewhere classified [ICD-10 Sub-category]
- VHL Gene [NCIt concept]
- Von Hippel-Lindau Disease Tumor Suppressor [NCIt concept]
- von Hippel-Lindau tumor suppressor [ORDO Gene]
Currated CISMeF NLP mapping
- Von Hippel Lindau Syndrome [NCIt concept]
- Von Hippel-Lindau disease [PASCAL descriptor]
- Von Hippel-Lindau disease [MedDRA Preferred Term]
- Von Hippel-Lindau disease [ICD-11 More detail]
- Von Hippel-Lindau disease [ORDO Disease]
- Von Hippel-Lindau syndrome (disorder) [SNOMED CT concept]
- 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]
Genes related to phenotype
- Cyclin d1 [OMIM gene]
- Von hippel-lindau tumor suppressor [OMIM gene]
HPO term(s)
- Abnormality of the liver [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar hemangioblastoma [HPO term]
- Epididymal cyst [HPO term]
- Hypertension [HPO term]
- Multiple renal cysts [HPO term]
- Neoplasm of the pancreas [HPO term]
- Pancreatic cysts [HPO term]
- Papillary cystadenoma of the epididymis [HPO term]
- Paraganglioma [HPO term]
- Pheochromocytoma [HPO term]
- Polycythemia [HPO term]
- Pulmonary capillary hemangiomatosis [HPO term]
- Renal cell carcinoma [HPO term]
- Retinal capillary hemangioma [HPO term]
- Sensorineural hearing impairment [HPO term]
- Spinal hemangioblastoma [HPO term]
- Tinnitus [HPO term]
- Vertigo [HPO term]
ORDO concept(s)
- Von Hippel-Lindau disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Von Hippel Lindau Syndrome [NCIt concept]
- Von Hippel-Lindau disease [ORDO Disease]
- Von Hippel-Lindau disease [MedDRA Preferred Term]
- Von Hippel-Lindau disease [PASCAL descriptor]
- Von Hippel-Lindau disease [ICD-11 More detail]
- Von Hippel-Lindau syndrome (disorder) [SNOMED CT concept]
- von Hippel Lindau disease [Disease (Nov.)]
- von Hippel-Lindau disease [MeSH Descriptor]
- von Hippel-Lindau disease [MeSH concept]
- von Hippel-Lindau disease [DO Concept]
- von hippel-lindau disease [MedlinePlus Topic]
- von hippel-lindau syndrome [SNOMED Notion]

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