KEGG DISEASE: Aplasia cutis-enamel dysplasia syndrome

KEGG

DISEASE: Aplasia cutis-enamel dysplasia syndrome

Entry

H02827                      Disease

Name

Aplasia cutis-enamel dysplasia syndrome

Description

Aplasia cutis-enamel dysplasia syndrome (ACED) is a novel recognizable neurodevelopmental syndrome with scalp and enamel anomalies. It has been reported that mutations in FOSL2 cause this syndrome. FOSL2 encodes a subunit of the AP-1 complex, a ubiquitous complex involved in various cellular functions such as proliferation, apoptosis, differentiation, survival, and migration.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H02827  Aplasia cutis-enamel dysplasia syndrome

Gene

FOSL2 [HSA:2355] [KO:K09030]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Cospain A, Rivera-Barahona A, Dumontet E, Gener B, Bailleul-Forestier I, Meyts I, Jouret G, Isidor B, Brewer C, Wuyts W, Moens L, Delafontaine S, Keung Lam WW, Van Den Bogaert K, Boogaerts A, Scalais E, Besnard T, Cogne B, Guissard C, Rollier P, Carre W, Bouvet R, Tarte K, Gomez-Carmona R, Lapunzina P, Odent S, Faoucher M, Dubourg C, Ruiz-Perez VL, Devriendt K, Pasquier L, Perez-Jurado LA

Title

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.

Journal

Genet Med 24:2475-2486 (2022)
DOI:10.1016/j.gim.2022.09.002

LinkDB

» Japanese version

DBGET integrated database retrieval system