Peroxisomal acyl-coa oxidase deficiency

Preferred Label : Peroxisomal acyl-coa oxidase deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pseudoneonatal adrenoleukodystrophy; Straight-chain acyl-coa oxidase deficiency;

Description : Peroxisomal acyl-CoA oxidase deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also D-bifunctional protein deficiency (261515), caused by mutation in the HSD17B4 gene (601860) on chromosome 5q2. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including Zellweger cerebrohepatorenal syndrome (see 214100) and neonatal adrenoleukodystrophy (see 601539) (Watkins et al., 1995).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the peroxisomal acyl-CoA oxidase gene (ACOX1, 609751.0001);

Laboratory abnormalities : Decreased or absent peroxisome acyl-CoA oxidase activity and protein; Increased plasma levels of very-long chain fatty acids (VLCFA); Normal serum plasmalogen;

Prefixed ID : #264470;

Details

Origin ID

264470;

UMLS CUI

C1849678;

Currated CISMeF NLP mapping
- Acyl-coenzyme A oxidase deficiency (disorder) [SNOMED CT concept]
- Peroxisomal ACYL-COA oxidase deficiency [MeSH concept]
- Peroxisomal Acyl-CoA Oxidase Deficiency [NCIt concept]
- Peroxisomal acyl-CoA oxidase deficiency [ICD-11 More detail]
- Peroxisomal acyl-CoA oxidase deficiency [ORDO Disease]
- peroxisomal ACYL-COA oxidase deficiency [MeSH Supplementary Concept]
- peroxisomal acyl-CoA oxidase deficiency [DO Concept]
DO Cross reference
- peroxisomal acyl-CoA oxidase deficiency [DO Concept]
Genes related to phenotype
- Acyl-coa oxidase 1, palmitoyl [OMIM gene]
HPO term(s)
- Abnormal liver function tests [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Bilateral sensorineural hearing impairment [HPO term]
- Brachycephaly [HPO term]
- CNS demyelination [HPO term]
- Decreased light- and dark-adapted electroretinogram amplitude [HPO term]
- Demyelination [HPO term]
- Depressed nasal bridge [HPO term]
- Developmental regression [HPO term]
- Diffuse hepatic steatosis [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Elevated hepatic transaminase [HPO term]
- Flattened nasal bridge [HPO term]
- Flattened or absent electroretinogram [HPO term]
- Frontal bossing [HPO term]
- Hepatomegaly [HPO term]
- Hypertelorism [HPO term]
- Hypertonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Inverted nipples [HPO term]
- Irritability [HPO term]
- Leukodystrophy [HPO term]
- Low-set ears [HPO term]
- Neonatal hypotonia [HPO term]
- No social interaction [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Pigmentary retinopathy [HPO term]
- Rod-cone dystrophy [HPO term]
- Seizure [HPO term]
- Severe global developmental delay [HPO term]
- Strabismus [HPO term]
- Wide nasal bridge [HPO term]
- obsolete Tapetoretinal degeneration [HPO term]
ORDO concept(s)
- Peroxisomal acyl-CoA oxidase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acyl-coenzyme A oxidase deficiency (disorder) [SNOMED CT concept]
- Peroxisomal ACYL-COA oxidase deficiency [MeSH concept]
- Peroxisomal Acyl-CoA Oxidase Deficiency [NCIt concept]
- Peroxisomal acyl-CoA oxidase deficiency [ORDO Disease]
- Peroxisomal acyl-CoA oxidase deficiency [ICD-11 More detail]
- peroxisomal ACYL-COA oxidase deficiency [MeSH Supplementary Concept]
- peroxisomal acyl-CoA oxidase deficiency [DO Concept]

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