KEGG DISEASE: C syndrome

KEGG

DISEASE: C syndrome

Entry

H01008                      Disease

Name

C syndrome;
Opitz trigonocephaly syndrome

Description

The C syndrome/ Opitz trigonocephaly syndrome is characterized by trigonocephaly and associated anomalies, such as unusual facies, psychomotor retardation, redundant skin, joint and limb abnormalities, and visceral anomalies. The C syndrome is caused by mutations in CD96, a member of the immunoglobulin superfamily.

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
    H01008  C syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06546  IgSF CAM signaling
   H01008  C syndrome

Pathway

hsa04517 IGSF CAM signaling

Network

nt06546 IgSF CAM signaling

Gene

CD96 [HSA:10225] [KO:K06517]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K

Title

Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.

Journal

Am J Hum Genet 81:835-41 (2007)
DOI:10.1086/522014

LinkDB

» Japanese version

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