Details of Disease

General Information of Disease (ID: DIS0FHJ0)

Disease Name Cardioacrofacial dysplasia 2
Synonyms cardioacrofacial dysplasia 2, autosomal dominant, somatic mosaicism; cardioacrofacial dysplasia 2; CAFD2
Disease Hierarchy
DISOX4QD: Cardioacrofacial dysplasia
DIS0FHJ0: Cardioacrofacial dysplasia 2
Disease Identifiers
MONDO ID
MONDO_0030877
UMLS CUI
C5436886
OMIM ID
619143
MedGen ID
1731253

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
PRKACB OT6RMDCE Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome. Am J Hum Genet. 2020 Nov 5;107(5):977-988. doi: 10.1016/j.ajhg.2020.09.005. Epub 2020 Oct 14.