Acyl-coa dehydrogenase, very long-chain, deficiency of

Preferred Label : Acyl-coa dehydrogenase, very long-chain, deficiency of;

Symbol : ACADVLD;

CISMeF acronym : ACADVLD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Vlcad deficiency;

Description : Inborn errors of mitochondrial fatty acid beta-oxidation include medium-chain acyl-CoA dehydrogenase deficiency (201450), short-chain acyl-CoA dehydrogenase deficiency (201470), and very long-chain acyl-CoA dehydrogenase deficiency.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the very long-chain acyl-CoA dehydrogenase gene (ACAVLD, 609575.0001);

Laboratory abnormalities : Dicarboxylic aciduria; Decreased plasma carnitine; Decreased very long-chain acyl-CoA dehydrogenase protein and activity; Exercise-induced myoglobinuria in adults; Increased serum creatine kinase in patients with muscle involvement;

Prefixed ID : #201475;

Détails

Origin ID

201475;

UMLS CUI

C3887523;

Automatic exact mappings (from CISMeF team)
- Long chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Long-Chain Acyl-CoA Dehydrogenase Deficiency [NCIt concept]
- Long-chain acyl-CoA dehydrogenase deficiency [MeSH concept]
- long-chain acyl-CoA dehydrogenase deficiency [MeSH Supplementary Concept]
- very long-chain acyl-coenzyme A dehydrogenase deficiency [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- Pearson syndrome [Disease (Nov.)]
- VLCAD deficiency [MedDRA LLT]
- VLCAD deficiency [MeSH concept]
- VLCAD deficiency [MeSH Supplementary Concept]
- Very Long-Chain Acyl-CoA Dehydrogenase Deficiency [NCIt concept]
- Very long chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Very long chain acyl-CoA dehydrogenase deficiency [ICD-11 More detail]
- Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Very long-chain acyl-coenzyme A dehydrogenase deficiency [MedDRA Preferred Term]
- very long chain acyl-CoA dehydrogenase deficiency [DO Concept]
DO Cross reference
- very long chain acyl-CoA dehydrogenase deficiency [DO Concept]
Genes related to phenotype
- Acyl-coa dehydrogenase, very long-chain [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Cardiomegaly [HPO term]
- Death in infancy [HPO term]
- Decreased plasma carnitine [HPO term]
- Dicarboxylic aciduria [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Episodic vomiting [HPO term]
- Exercise-induced myalgia [HPO term]
- Exercise-induced myoglobinuria [HPO term]
- Exercise-induced rhabdomyolysis [HPO term]
- Gastroesophageal reflux [HPO term]
- Hepatic steatosis [HPO term]
- Hepatocellular necrosis [HPO term]
- Hepatomegaly [HPO term]
- Hyperammonemia [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Lethargy [HPO term]
- Microcephaly [HPO term]
- Muscle stiffness [HPO term]
- Muscle weakness [HPO term]
- Necrotizing enterocolitis [HPO term]
- Neonatal onset [HPO term]
- Nonketotic hypoglycemia [HPO term]
- Periportal fibrosis [HPO term]
- Reduced ejection fraction [HPO term]
- Respiratory arrest [HPO term]
- Sudden cardiac death [HPO term]
- Tachypnea [HPO term]
ORDO concept(s)
- Very long chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- VLCAD deficiency [MedDRA LLT]
- VLCAD deficiency [MeSH Supplementary Concept]
- Very Long-Chain Acyl-CoA Dehydrogenase Deficiency [NCIt concept]
- Very long chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Very long chain acyl-CoA dehydrogenase deficiency [ICD-11 More detail]
- Very long chain acyl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Very long-chain acyl-coenzyme A dehydrogenase deficiency [MedDRA Preferred Term]
- very long chain acyl-CoA dehydrogenase deficiency [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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