Details of Disease

General Information of Disease (ID: DISKFOGQ)

Disease Name Blepharocheilodontic syndrome 2
Synonyms BLEPHAROCHEILODONTIC syndrome 2; BCDS2; blepharo-cheilo-odontic syndrome caused by mutation in CTNND1; CTNND1 blepharo-cheilo-odontic syndrome
Definition Any blepharo-cheilo-odontic syndrome in which the cause of the disease is a mutation in the CTNND1 gene.
Disease Hierarchy
DIS3K312: Blepharocheilodontic syndrome
DISKFOGQ: Blepharocheilodontic syndrome 2
Disease Identifiers
MONDO ID
MONDO_0040503
UMLS CUI
C4540127
OMIM ID
617681
MedGen ID
1623594

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CTNND1 OTUMPSHR Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.