alpha-methylacyl-CoA racemase deficiency

Summary
Synonym
  • AMACR deficiency
Definition
A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1.
Super Class
peroxisomal disease
External Links
Disease Ontology
DOID:0060602
Mondo Disease Ontology
MeSH
OMIM
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
3295 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4
23600 AMACR alpha-methylacyl-CoA racemase
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P51659 Peroxisomal multifunctional enzyme type 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 41 in total
HPO ID HPO Term
HP:0002573 Hematochezia
HP:0001251 Ataxia
HP:0012379 Abnormal circulating enzyme concentration or activity
HP:0000716 Depression
HP:0003236 Elevated circulating creatine kinase concentration
HP:0001337 Tremor
HP:0000518 Cataract
HP:0002354 Memory impairment
HP:0007141 Sensorimotor neuropathy
HP:0001081 Cholelithiasis
Displaying 1 entry
Gene ID Gene Symbol Description
23600 AMACR alpha-methylacyl-CoA racemase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024