Details of Disease | DrugMAP

General Information of Disease (ID: DIS39QWT)

Disease Name	Cardioacrofacial dysplasia 1
Synonyms	CAFD1; cardioacrofacial dysplasia 1
Disease Hierarchy	DISOX4QD: Cardioacrofacial dysplasia DIS39QWT: Cardioacrofacial dysplasia 1
Disease Identifiers	MONDO ID MONDO_0030876 UMLS CUI C5436885 OMIM ID 619142 MedGen ID 1777656

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PRKACA	TT5U49F	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRKACA	OTAKDCMR	Strong	Autosomal dominant	[1]
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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.