KEGG DISEASE: Craniosynostosis and dental anomalies

KEGG

DISEASE: Craniosynostosis and dental anomalies

Entry

H02254                      Disease

Name

Craniosynostosis and dental anomalies

Description

Craniosynostosis and dental anomalies (CRSDA) is an autosomal recessive form of craniosynostosis associated with delayed tooth eruption, maxillary hypoplasia, supernumerary teeth, and digit abnormalities. It was reported that affected children harbored mutations in IL11RA encoding interleukin 11 receptor, alpha. It has been suggested that IL11 signaling is essential for the normal development of craniofacial bones and teeth and that its function is to restrict suture fusion and tooth number.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H02254  Craniosynostosis and dental anomalies

Pathway

JAK-STAT signaling pathway

Cytokine-cytokine receptor interaction

Gene

IL11RA [HSA:3590] [KO:K05056]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Nieminen P, Morgan NV, Fenwick AL, Parmanen S, Veistinen L, Mikkola ML, van der Spek PJ, Giraud A, Judd L, Arte S, Brueton LA, Wall SA, Mathijssen IM, Maher ER, Wilkie AO, Kreiborg S, Thesleff I

Title

Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth.

Journal

Am J Hum Genet 89:67-81 (2011)
DOI:10.1016/j.ajhg.2011.05.024

LinkDB

» Japanese version

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