Details of Disease | DrugMAP

General Information of Disease (ID: DISO6FJN)

Disease Name	Peroxisomal acyl-CoA oxidase deficiency
Synonyms	Pseudoneonatal adrenoleukodystrophy; straight-chain acyl-Coa oxidase deficiency; Pseudoadrenoleukodystrophy; peroxisomal acyl-coenzyme A oxidase; pseudo-NALD; peroxisomal acyl-CoA oxidase deficiency; pseudo-neonatal adrenoleukodystrophy; ACOX1 deficiency
Definition	Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.
Disease Hierarchy	DIS4V9MP: Disorder of peroxisomal beta oxidation DISO6FJN: Peroxisomal acyl-CoA oxidase deficiency
Disease Identifiers	MONDO ID MONDO_0009919 MESH ID C536662 UMLS CUI C1849678 OMIM ID 264470 MedGen ID 376636 Orphanet ID 2971 SNOMED CT ID 238069004

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
ACOX1	OTM0A0DY	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.