Details of Disease | DrugMAP

General Information of Disease (ID: DIS3K312)

Disease Name	Blepharocheilodontic syndrome
Synonyms	blepharocheilodontic syndrome 1; ectropion, inferior, with cleft lip and/or palate; Elschnig syndrome; clefting, ectropion, and conical teeth; lagophthalmia with bilateral cleft lip and palate; BCDS1; ectropion inferior cleft lip and or palate; BCDS; blepharo-cheilo-dontic syndrome; ectropion inferior-cleft lip and or palate syndrome; ectropion inferior-cleft lip and/or palate syndrome; BCD syndrome; blepharocheilodontic syndrome; blepharo-cheilo-odontic syndrome; Elsching syndrome; lagophthalmia-cleft lip and palate syndrome; clefting-ectropion-conical teeth syndrome
Definition	An ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.
Disease Hierarchy	DISWMK01: Congenital ectropion DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability DISLRS4M: Ectodermal dysplasia DIS3HIWD: Autosomal dominant disease DIS3K312: Blepharocheilodontic syndrome
Disease Identifiers	MONDO ID MONDO_0007339 MESH ID C536188 UMLS CUI C1861536 MedGen ID 349302 Orphanet ID 1997 SNOMED CT ID 717911008

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	Supportive	Autosomal dominant	[1]
CDH1	TTLAWO6	Strong	Genetic Variation	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CDH1	OTFJMXPM	Supportive	Autosomal dominant	[1]
CTNND1	OTUMPSHR	Supportive	Autosomal dominant	[1]
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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	Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.Eur J Hum Genet. 2018 Feb;26(2):210-219. doi: 10.1038/s41431-017-0010-5. Epub 2018 Jan 18.