KEGG   DISEASE: Craniosynostoses
Entry
H02160                      Disease                                
Name
Craniosynostoses
Description
Craniosynostosis (CRS) is the premature fusion of the cranial sutures and secondary distortion of skull shape.
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
     H02160  Craniosynostoses
Gene
(CRS1) TWIST1 [HSA:7291] [KO:K09069]
(CRS2) MSX2 [HSA:4488] [KO:K09341]
(CRS3) TCF12 [HSA:6938] [KO:K15603]
(CRS4) ERF [HSA:2077] [KO:K09434]
(CRS5) ALX4 [HSA:60529] [KO:K09451]
(CRS6) ZIC1 [HSA:7545] [KO:K09224]
(CRS7) SMAD6 [HSA:4091] [KO:K04677]
Other DBs
ICD-11: LB70.0
MeSH: D003398
OMIM: 123100 604757 615314 600775 615529 616602 617439
Reference
  Authors
Johnson D, Wilkie AO
  Title
Craniosynostosis.
  Journal
Eur J Hum Genet 19:369-76 (2011)
DOI:10.1038/ejhg.2010.235
Reference
PMID:23438589 (CRS1, CRS3, CRS4)
  Authors
Fitzpatrick DR
  Title
Filling in the gaps in cranial suture biology.
  Journal
Nat Genet 45:231-2 (2013)
DOI:10.1038/ng.2557
Reference
PMID:8106171 (CRS2)
  Authors
Jabs EW, Muller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mulliken JB, et al.
  Title
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis.
  Journal
Cell 75:443-50 (1993)
DOI:10.1016/0092-8674(93)90379-5
Reference
PMID:22829454 (CRS5)
  Authors
Yagnik G, Ghuman A, Kim S, Stevens CG, Kimonis V, Stoler J, Sanchez-Lara PA, Bernstein JA, Naydenov C, Drissi H, Cunningham ML, Kim J, Boyadjiev SA
  Title
ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.
  Journal
Hum Mutat 33:1626-9 (2012)
DOI:10.1002/humu.22166
Reference
PMID:26340333 (CRS6)
  Authors
Twigg SR, Forecki J, Goos JA, Richardson IC, Hoogeboom AJ, van den Ouweland AM, Swagemakers SM, Lequin MH, Van Antwerp D, McGowan SJ, Westbury I, Miller KA, Wall SA, van der Spek PJ, Mathijssen IM, Pauws E, Merzdorf CS, Wilkie AO
  Title
Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.
  Journal
Am J Hum Genet 97:378-88 (2015)
DOI:10.1016/j.ajhg.2015.07.007
Reference
PMID:27606499 (CRS7)
  Authors
Timberlake AT, Choi J, Zaidi S, Lu Q, Nelson-Williams C, Brooks ED, Bilguvar K, Tikhonova I, Mane S, Yang JF, Sawh-Martinez R, Persing S, Zellner EG, Loring E, Chuang C, Galm A, Hashim PW, Steinbacher DM, DiLuna ML, Duncan CC, Pelphrey KA, Zhao H, Persing JA, Lifton RP
  Title
Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles.
  Journal
Elife 5:e20125 (2016)
DOI:10.7554/eLife.20125
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