KEGG DISEASE: CHARGE syndrome

KEGG

DISEASE: CHARGE syndrome

Entry

H00556                      Disease

Name

CHARGE syndrome

Description

CHARGE syndrome is a rare, usually sporadic disorder with multiple congenital anomalies. CHARGE is an acronym for the six prevalent clinical features of the disease, namely, coloboma, heart defect, atresia of choanae, retardation of growth and development, genital hypoplasia, and ear anomalies/deafness. Abnormal semicircular canals, arhinencephaly, and rhombencephalic dysfunctions are also considered as important features. Nearly 2/3 of cases harbor mutations within the CHD7 gene.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00556  CHARGE syndrome

Gene

CHD7 [HSA:55636] [KO:K14437]
SEMA3E [HSA:9723] [KO:K06840]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Pampal A

Title

CHARGE: an association or a syndrome?

Journal

Int J Pediatr Otorhinolaryngol 74:719-22 (2010)
DOI:10.1016/j.ijporl.2010.03.019

Reference

Authors

Sanlaville D, Verloes A

Title

CHARGE syndrome: an update.

Journal

Eur J Hum Genet 15:389-99 (2007)
DOI:10.1038/sj.ejhg.5201778

Reference

Authors

Lalani SR, Safiullah AM, Molinari LM, Fernbach SD, Martin DM, Belmont JW

Title

SEMA3E mutation in a patient with CHARGE syndrome.

Journal

J Med Genet 41:e94 (2004)
DOI:10.1136/jmg.2003.017640

LinkDB

» Japanese version

DBGET integrated database retrieval system