KEGG   DISEASE: Unilateral or bilateral isolated cryptophthalmos
Entry
H02852                      Disease                                
Name
Unilateral or bilateral isolated cryptophthalmos
Description
Unilateral or bilateral isolated cryptophthalmos (CRYPTOP) is a rare congenital disorder characterized by ocular dysplasia with eyelid malformation. It has been reported that mutations in FREM2 cause isolated cryptophthalmos. FREM2 is a member of the Fras1/Frem protein family that directly interacts with constituents of connective tissue through their chondroitin sulfate proteoglycan motifs, contributing to epithelial-mesenchymal coupling.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the eye, eyelid or lacrimal apparatus
    LA14  Structural developmental anomalies of eyelid, lacrimal apparatus or orbit
     H02852  Unilateral or bilateral isolated cryptophthalmos
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06548  Integrin signaling
   H02852  Unilateral or bilateral isolated cryptophthalmos
Pathway
hsa04518 Integrin signaling   
Network
nt06548 Integrin signaling
Gene
FREM2 [HSA:341640] [KO:K23380]
Other DBs
ICD-11: LA14.01
MeSH: C565138
OMIM: 123570
Reference
PMID:30802441
  Authors
Zhang X, Wang D, Dongye M, Zhu Y, Chen C, Wang R, Long E, Liu Z, Wu X, Lin D, Chen J, Lin Z, Wang J, Li W, Li Y, Li D, Lin H
  Title
Loss-of-function mutations in FREM2 disrupt eye morphogenesis.
  Journal
Exp Eye Res 181:302-312 (2019)
DOI:10.1016/j.exer.2019.02.013
Reference
PMID:29688405
  Authors
Yu Q, Lin B, Xie S, Gao S, Li W, Liu Y, Wang H, Huang D, Xie Z
  Title
A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.
  Journal
Hum Mol Genet 27:2357-2366 (2018)
DOI:10.1093/hmg/ddy144
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