Details of Disease | DrugMAP

General Information of Disease (ID: DISBITY7)

Disease Name	Neurocardiofaciodigital syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DISBITY7: Neurocardiofaciodigital syndrome
Disease Identifiers	MONDO ID MONDO_0859247 UMLS CUI C5677020 OMIM ID 619869 MedGen ID 1804193

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
MAPKAPK5	TT3UJ7Z	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MAPKAPK5	OTAZHPVK	Strong	Autosomal recessive	[1]
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References

1	Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly. Genet Med. 2021 Apr;23(4):679-688. doi: 10.1038/s41436-020-01052-2. Epub 2021 Jan 13.