Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Hereditary Hemorrhagic Telangiectasia, Type 1 (DOID:9002350)
Annotations: Rat: (4) Mouse: (4) Human: (5) Chinchilla: (4) Bonobo: (4) Dog: (4) Squirrel: (4) Pig: (4)
Parent Terms Term With Siblings Child Terms
Hereditary Hemorrhagic Telangiectasia, Type 1  
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9. Hereditary hemorrhagic telangiectasia type 1 (HHT1) is caused by heterozygous mutation in the gene encoding endoglin (ENG) on chromosome 9q34. (OMIM)
Hereditary Hemorrhagic Telangiectasia, Type 2  
Hereditary Hemorrhagic Telangiectasia, Type 3 
Hereditary Hemorrhagic Telangiectasia, Type 4 
Hereditary Hemorrhagic Telangiectasia, Type 5  
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome  

Synonyms
Exact Synonyms: HHT1 ;   Haemorrhagic Telangiectasia 1
Primary IDs: OMIM:187300
Alternate IDs: RDO:9000767

paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.