KEGG   DISEASE: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
Entry
H01301                      Disease                                
Name
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
Description
Hemorrhagic destruction of the brain, subependymal calcification, and cataracts (HDBSCC) 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
Brite
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06546  IgSF CAM signaling
   H01301  Hemorrhagic destruction of the brain, subependymal calcification, and cataracts
Pathway
hsa04530  Tight junction
hsa04517  IGSF CAM signaling
Network
nt06546 IgSF CAM signaling
Gene
JAM3 [HSA:83700] [KO:K06785]
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
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