Disease: Alpha-Methylacyl-Coa Racemase Deficiency

Name Alpha-Methylacyl-Coa Racemase Deficiency


Classification genetic, hepatic, metabolism, neurological

Phenotypes Ataxia; Autosomal recessive inheritance; Depressivity; Dysarthria; Hypergonadotropic hypogonadism; Migraine; Pigmentary retinopathy; Sensorimotor neuropathy; Spasticity; Status epilepticus; Tremor; Visual impairment

Associated Genes AMACR (Withdrawn symbols: P504S, RACE )

Mouse Orthologs Amacr (Withdrawn symbols: Macr1 )

Source OMIM:614307 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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