Details of Disease | DrugMAP

General Information of Disease (ID: DISC4EXW)

Disease Name	Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
Synonyms	mitochondrial short-chain ENOYL-CoA hydratase 1 deficiency; short-chain enoyl-CoA hydratase deficiency; ECHS1D; mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
Disease Hierarchy	DISKAHA3: Mitochondrial disease DISYKSRF: Genetic disease DISC4EXW: Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
Disease Identifiers	MONDO ID MONDO_0014563 UMLS CUI C4225391 OMIM ID 616277 MedGen ID 902729

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
ECHS1	OTS0593S	Definitive	Autosomal recessive	[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.