loading...| Preferred Name |
Von Hippel Lindau Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3105 |
| ALT_DEFINITION |
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). 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. |
| code |
C3105 |
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177537 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157711 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123272 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177516 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 |
| Contributing_Source |
NICHD CTRP CCPS GDC Cellosaurus |
| 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 |
| Display_Name |
Von Hippel-Lindau Syndrome |
| FULL_SYN |
Von Hippel-Lindau Syndrome (VHL) Von Hippel-Lindau Disease Von Hippel Lindau Syndrome Von Hippel-Lindau Syndrome von Hippel-Lindau syndrome Cerebroretinal Angiomatosis VHL syndrome |
| Is_Value_For_GDC_Property | |
| label |
Von Hippel Lindau Syndrome |
| Legacy Concept Name |
Von_Hippel-Lindau_Syndrome |
| Maps_To |
Von Hippel-Lindau Syndrome |
| Preferred_Name |
Von Hippel Lindau Syndrome |
| prefixIRI |
Thesaurus:C3105 |
| prefLabel |
Von Hippel Lindau Syndrome |
| Related_To_Genetic_Biomarker | |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0019562 |
| subClassOf |