KEGG   DISEASE: Cranio-lenticulo-sutural dysplasia
Entry
H01105                      Disease                                
Name
Cranio-lenticulo-sutural dysplasia;
Boyadjiev-Jabs syndrome
Description
Cranio-lenticulo-sutural dysplasia (CLSD) is a rare autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms, and skeletal defects. CLSD is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.
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 skeleton
    LB70  Structural developmental anomalies of cranium
     H01105  Cranio-lenticulo-sutural dysplasia
Pathway
hsa04141  Protein processing in endoplasmic reticulum
Gene
SEC23A [HSA:10484] [KO:K14006]
Other DBs
ICD-11: LB70.Y
MeSH: C564332
OMIM: 607812
Reference
PMID:21039434
  Authors
Boyadjiev SA, Kim SD, Hata A, Haldeman-Englert C, Zackai EH, Naydenov C, Hamamoto S, Schekman RW, Kim J
  Title
Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion.
  Journal
Clin Genet 80:169-76 (2011)
DOI:10.1111/j.1399-0004.2010.01550.x
Reference
PMID:16980979
  Authors
Boyadjiev SA, Fromme JC, Ben J, Chong SS, Nauta C, Hur DJ, Zhang G, Hamamoto S, Schekman R, Ravazzola M, Orci L, Eyaid W
  Title
Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.
  Journal
Nat Genet 38:1192-7 (2006)
DOI:10.1038/ng1876
LinkDB

» Japanese version

DBGET integrated database retrieval system