Details of Disease

General Information of Disease (ID: DISMNDOY)

Disease Name Blepharocheilodontic syndrome 1
Synonyms
elschnig syndrome; BCD syndrome; clefting, ectropion, and conical teeth; blepharocheilodontic syndrome; BCDS1; ectropion, Inferior, with cleft 51P and/Or palate; Lagophthalmia with bilateral cleft 51P and palate; blepharocheilodontic syndrome 1; blepharo-cheilo-odontic syndrome caused by mutation in CDH1; CDH1 blepharo-cheilo-odontic syndrome
Definition Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CDH1 gene.
Disease Hierarchy
DIS3K312: Blepharocheilodontic syndrome
DISMNDOY: Blepharocheilodontic syndrome 1
Disease Identifiers
MONDO ID
MONDO_0054740
UMLS CUI
C4551988
OMIM ID
119580
MedGen ID
1632198

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CDH1 TTLAWO6 Strong Genetic Variation [1]
CDH1 TTLAWO6 Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CDH1 OTFJMXPM Definitive Autosomal dominant [2]
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References

1 Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1. Genet Med. 2017 Sep;19(9):1013-1021. doi: 10.1038/gim.2017.11. Epub 2017 Mar 16.
2 Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts. Genetics. 2014 Jul;197(3):1039-44. doi: 10.1534/genetics.114.165225. Epub 2014 May 2.