DISEASES

Disease-gene associations mined from literature

Human genes for hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia [DOID:1270]

An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy).

Synonyms:  hereditary hemorrhagic telangiectasia,  DOID:1270,  familial hemorrhagic telangiectasia,  Osler hemorrhagic telangiectasia syndrome,  Osler-Weber-Rendu disease ...

Linkouts:  OMIM #1 #2 #3 #4 #5