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alpha-methylacyl-CoA racemase deficiency
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description 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.
Uniprot Description A rare autosomal recessive peroxisomal disorder characterized by elevated plasma concentrations of pristanic acid C27-bile-acid intermediates, and adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging.
Disease Ontology Description A peroxisomal disease that has_material_basis in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1. It is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0060602
EFO:1001980
MESH:C565768
NCIT:C119677
OMIM:614307
SCTID:700463002
UMLS:C3280428
MONDO:0013681
High level summary of knowledge for a disease, including descriptions and datasource references.