KEGG   DISEASE: Microcornea, myopic chorioretinal atrophy, and telecanthus
Entry
H02445                      Disease                                
Name
Microcornea, myopic chorioretinal atrophy, and telecanthus
Description
Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is a syndrome caused by mutations in ADAMTS18. ADAMTS18 encodes a member of a family of metallo-proteases that are known for their role in extracellular matrix remodeling. It is suggested that ADAMTS18 plays an essential role in early eye development.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD21  Syndromes with eye anomalies as a major feature
    H02445  Microcornea, myopic chorioretinal atrophy, and telecanthus
Gene
ADAMTS18 [HSA:170692] [KO:K08632]
Other DBs
ICD-11: LD21.Y
ICD-10: Q15.8
MeSH: C537551
OMIM: 615458
Reference
PMID:23818446
  Authors
Aldahmesh MA, Alshammari MJ, Khan AO, Mohamed JY, Alhabib FA, Alkuraya FS
  Title
The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18.
  Journal
Hum Mutat 34:1195-9 (2013)
DOI:10.1002/humu.22374
Reference
PMID:22686506
  Authors
Khan AO
  Title
Microcornea with myopic chorioretinal atrophy, telecanthus and posteriorly-rotated ears: a distinct clinical syndrome.
  Journal
Ophthalmic Genet 33:196-9 (2012)
DOI:10.3109/13816810.2012.681097
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