Details of Disease | DrugMAP

General Information of Disease (ID: DISZ4COL)

Disease Name	Fatty acyl-CoA reductase 1 deficiency
Synonyms	PFCRD; peroxisomal fatty acyl-CoA reductase 1 disorder; fatty acyl-CoA reductase 1 deficiency; fatty acyl-CoA reductase 1 disorder; severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder; rhizomelic chondrodysplasia punctata type 4; fatty acyl-CoA reductase 1 disorder or fatty acyl-CoA reductase 1 deficiency; severe intellectual disability-epilepsy-cataract syndrome due to FAR1 deficiency; FAR1 deficiency; severe intellectual disability-epilepsy-cataract syndrome due to fatty acyl-CoA reductase 1 deficiency
Disease Hierarchy	DISERVGO: Chondrodysplasia punctata DISB52BH: Eye disorder DISE8MEP: Fatty acyl-CoA reductase defects DISZ4COL: Fatty acyl-CoA reductase 1 deficiency
Disease Identifiers	MONDO ID MONDO_0014510 UMLS CUI C4015344 OMIM ID 616154 MedGen ID 863781 Orphanet ID 438178 SNOMED CT ID 1237619001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CRX	OTH435SV	Strong	Genetic Variation	[1]
FAR1	OTLHTYIE	Strong	Autosomal recessive	[2]
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References

1	The many faces of peroxisomal disorders: Lessons from a large Arab cohort.Clin Genet. 2019 Feb;95(2):310-319. doi: 10.1111/cge.13481. Epub 2018 Dec 18.
2	A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. Am J Hum Genet. 2014 Nov 6;95(5):602-10. doi: 10.1016/j.ajhg.2014.10.003. Epub 2014 Oct 30.