Gene: [09q341/ENG] endoglin; Osler-Rendu-Weber syndrome 1 (ORW1; MIM:187300); telangiectasia, hereditary hemorrhagic, type I (HHT1; MIM:187300); [ORW ORW1 HHT1 ]

CAG

Osler-Rendu-Weber syndrome 2 erases due to a mutation in activin A receptor type II-like kinase 1 (GEM:12q13/ACVRLK1). On Osler-Rendu-Weber syndrome 3 see GEM:00.0/ORW3."

REF

CLO,LOC "Fernandez-Ruiz E &: CCG, 64, 204-207, 1993
MUT "McAllister KA &: Nature Genet, 8, 345-351, 1994
CLO,LOC "Pilz A &: Ann Hum Genet, 58, 231-232, 1994

SWI

 SWISSPROT: P17813

CLA

coding, basic

LOC

09 q34.1

MIM

 MIM: 131195

SYN

ORW ORW1 HHT1