Details of Disease | DrugMAP

General Information of Disease (ID: DISKNZEZ)

Disease Name	Diaphragmatic hernia 4, with cardiovascular defects
Disease Hierarchy	DIS0IPVU: Congenital diaphragmatic hernia DISKNZEZ: Diaphragmatic hernia 4, with cardiovascular defects
Disease Identifiers	MONDO ID MONDO_0859571 UMLS CUI C5774210 OMIM ID 620025 MedGen ID 1823983

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ALDH1A2	DEKN1H4	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
ALDH1A2	OTJB560Z	Strong	Autosomal recessive	[1]
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References

1	Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects. Hum Mutat. 2021 May;42(5):506-519. doi: 10.1002/humu.24179. Epub 2021 Apr 1.