Alpha-methylacyl-coa racemase deficiency

Preferred Label : Alpha-methylacyl-coa racemase deficiency;

Symbol : AMACRD;

CISMeF acronym : AMACRD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Amacr deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha-methylacyl-CoA racemase gene (AMACR, 604489.0001);

Laboratory abnormalities : Increased serum pristanic acid; Normal or increased serum phytanic acid; Increased serum C26-bile-acid intermediates;

Prefixed ID : #614307;

Details

Origin ID

614307;

UMLS CUI

C3280428;

Automatic exact mappings (from CISMeF team)
- Congenital bile acid synthesis defect type 4 [ORDO Disease]
- Congenital bile acid synthesis defect type 4 [ICD-11 More detail]
CISMeF manual mappings
- Alpha-methylacyl-CoA racemase deficiency disorder (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Alpha-Methylacyl-CoA Racemase Deficiency [NCIt concept]
- Alpha-Methylacyl-CoA racemase deficiency [MeSH concept]
- Alpha-Methylacyl-CoA racemase deficiency [MeSH Supplementary Concept]
- alpha-methylacyl-CoA racemase deficiency [DO Concept]
DO Cross reference
- alpha-methylacyl-CoA racemase deficiency [DO Concept]
Genes related to phenotype
- Alpha-methylacyl-coa racemase [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Depression [HPO term]
- Dysarthria [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Migraine [HPO term]
- Pigmentary retinopathy [HPO term]
- Seizure [HPO term]
- Sensorimotor neuropathy [HPO term]
- Spasticity [HPO term]
- Status epilepticus [HPO term]
- Tremor [HPO term]
- Visual impairment [HPO term]
Not associated HPO term(s)
- Abnormality of the liver [HPO term]
ORDO concept(s)
- Congenital bile acid synthesis defect type 4 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alpha-Methylacyl-CoA Racemase Deficiency [NCIt concept]
- Alpha-Methylacyl-CoA racemase deficiency [MeSH Supplementary Concept]
- Alpha-Methylacyl-CoA racemase deficiency [MeSH concept]
- Alpha-methylacyl-CoA racemase deficiency disorder (disorder) [SNOMED CT concept]
- alpha-methylacyl-CoA racemase deficiency [DO Concept]

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