Details of Disease | DrugMAP

General Information of Disease (ID: DISMSQ7I)

Disease Name	Alpha-methylacyl-CoA racemase deficiency
Synonyms	AMACRD; AMACR deficiency; alpha-methylacyl-CoA racemase deficiency; AMACR
Definition	A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy.
Disease Hierarchy	DIS4V9MP: Disorder of peroxisomal beta oxidation DISMSQ7I: Alpha-methylacyl-CoA racemase deficiency
Disease Identifiers	MONDO ID MONDO_0013681 MESH ID C565768 UMLS CUI C3280428 OMIM ID 614307 MedGen ID 482058 SNOMED CT ID 700463002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AMACR	TTLN1AP	Strong	Biomarker	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
AMACR	DEGKWJB	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AMACR	OTUU22PK	Definitive	Autosomal recessive	[2]
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References

1	Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
2	Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nat Genet. 2000 Feb;24(2):188-91. doi: 10.1038/72861.