KEGG DISEASE: Blepharocheilodontic syndrome

DISEASE: Blepharocheilodontic syndrome

Entry

H02474                      Disease

Name

Blepharocheilodontic syndrome

Description

Blepharocheilodontic syndrome (BCDS) is a rare autosomal dominant disorder characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. It has been reported that BCDS is caused by mutations in CDH1 and CTNND1. They are members of the cadherin-catenin complex.

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
    H02474  Blepharocheilodontic syndrome

Pathway

hsa04520

Adherens junction

hsa04015

Rap1 signaling pathway

Gene

(BCDS1) CDH1 [HSA:999] [KO:K05689]
(BCDS2) CTNND1 [HSA:1500] [KO:K05690]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:28301459

Authors

Ghoumid J, Stichelbout M, Jourdain AS, Frenois F, Lejeune-Dumoulin S, Alex-Cordier MP, Lebrun M, Guerreschi P, Duquennoy-Martinot V, Vinchon M, Ferri J, Jung M, Vicaire S, Vanlerberghe C, Escande F, Petit F, Manouvrier-Hanu S

Title

Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.

Journal

Genet Med 19:1013-1021 (2017)
DOI:10.1038/gim.2017.11

Reference

PMID:29348693

Authors

Kievit A, Tessadori F, Douben H, Jordens I, Maurice M, Hoogeboom J, Hennekam R, Nampoothiri S, Kayserili H, Castori M, Whiteford M, Motter C, Melver C, Cunningham M, Hing A, Kokitsu-Nakata NM, Vendramini-Pittoli S, Richieri-Costa A, Baas AF, Breugem CC, Duran K, Massink M, Derksen PWB, van IJcken WFJ, van Unen L, Santos-Simarro F, Lapunzina P, Gil-da Silva Lopes VL, Lustosa-Mendes E, Krall M, Slavotinek A, Martinez-Glez V, Bakkers J, van Gassen KLI, de Klein A, van den Boogaard MH, van Haaften G

Title

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

Journal

Eur J Hum Genet 26:210-219 (2018)
DOI:10.1038/s41431-017-0010-5

» Japanese version

All links

Disease (2)   
   OMIM (2)   
Gene (4)   
   KEGG ORTHOLOGY (2)   
   KEGG GENES (2)   
Literature (2)   
   PubMed (2)   
All databases (8)   

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