Details of Disease | DrugMAP

General Information of Disease (ID: DIS1GWH1)

Disease Name	Fatty acyl-CoA reductase 1 upregulation
Synonyms	fatty acyl-CoA reductase 1 upregulation; FAR1 upregulation
Definition	A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids.
Disease Hierarchy	DISE8MEP: Fatty acyl-CoA reductase defects DIS3HIWD: Autosomal dominant disease DIS1GWH1: Fatty acyl-CoA reductase 1 upregulation

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
FAR1	OTLHTYIE	Moderate	Autosomal dominant	[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.