Acetyl-coa carboxylase-alpha deficiency

Preferred Label : Acetyl-coa carboxylase-alpha deficiency;

Symbol : ACACAD;

CISMeF acronym : ACACAD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Acaca deficiency; Acc1 deficiency; Acetyl-coa carboxylase deficiency;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Urinary excretion of 2-ethyl-3-keto-hexanoic acid; Urinary excretion of 2-ethyl-3-hydroxy-hexanoic acid; Urinary excretion of 2-ethyl-hexanedioic acid; Decreased acetyl-CoA carboxylase activity;

Prefixed ID : #613933;

Details

Origin ID

613933;

UMLS CUI

C0268603;

Automatic exact mappings (from CISMeF team)
- ACACA wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Acetyl-Coa carboxylase deficiency [MeSH concept]
- Acetyl-Coa carboxylase deficiency [MeSH Supplementary Concept]
- Deficiency of acetyl-coenzyme A carboxylase (disorder) [SNOMED CT concept]
- acetyl-coa: carboxylase deficiency [SNOMED Notion]
Genes related to phenotype
- Acetyl-coa carboxylase-alpha [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Generalized hypotonia [HPO term]
- Growth delay [HPO term]
- Hypotonia [HPO term]
- Myopathy [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acetyl-Coa carboxylase deficiency [MeSH Supplementary Concept]
- Acetyl-Coa carboxylase deficiency [MeSH concept]
- Deficiency of acetyl-coenzyme A carboxylase (disorder) [SNOMED CT concept]
- acetyl-coa: carboxylase deficiency [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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