H01301 | |
H number | H01301 |
Name | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts |
Description | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts is an autosomal-recessive syndrome with severe hemorrhagic destruction of the brain as a cardinal feature. A mutation in JAM3 that encodes tight-junction protein causes this syndrome. |
Category | Nervous system disease |
Network | - |
Gene | JAM3 [HSA:83700] [KO:K06785] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | OMIM: 613730 |
Reference | PMID:21109224 AUTHORS Mochida GH, Ganesh VS, Felie JM, Gleason D, Hill RS, Clapham KR, Rakiec D, Tan WH, Akawi N, Al-Saffar M, Partlow JN, Tinschert S, Barkovich AJ, Ali B, Al-Gazali L, Walsh CA TITLE A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. JOURNAL Am J Hum Genet 87:882-9 (2010) DOI:10.1016/j.ajhg.2010.10.026 |