Acyl-coa dehydrogenase, short-chain, deficiency of

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

Symbol : ACADSD;

CISMeF acronym : ACADSD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Acads deficiency; Scadh deficiency; Lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency; Scad deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the short chain acyl-CoA dehydrogenase gene (ACADS, 606885.0001);

Laboratory abnormalities : Ethylmalonic aciduria; Methylsuccinic aciduria; Decreased SCAD activity; Increased serum acyl carnitines; Increased serum butyryl carnitine;

Prefixed ID : #201470;

Détails

Origin ID

201470;

UMLS CUI

C0342783;

Automatic exact mappings (from CISMeF team)
- Short-chain acyl-CoA dehydrogenase deficiency [LOINC component]
Currated CISMeF NLP mapping
- Acyl-CoA Dehydrogenase, Short-Chain Deficiency [NCIt concept]
- Deficiency of butyryl-CoA dehydrogenase (disorder) [SNOMED CT concept]
- SCAD deficiency [MedDRA LLT]
- Short chain Acyl CoA dehydrogenase deficiency [MeSH concept]
- Short chain acyl-CoA dehydrogenase deficiency [ICD-11 More detail]
- Short chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Short chain acyl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Short-chain acyl-coenzyme A dehydrogenase deficiency [MedDRA Preferred Term]
- short chain acyl CoA dehydrogenase deficiency [Disease (Nov.)]
- short chain acyl CoA dehydrogenase deficiency [MeSH Supplementary Concept]
- short chain acyl-CoA dehydrogenase deficiency [DO Concept]
DO Cross reference
- short chain acyl-CoA dehydrogenase deficiency [DO Concept]
Genes related to phenotype
- Acyl-coa dehydrogenase, short-chain [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Delayed speech and language development [HPO term]
- Episodic metabolic acidosis [HPO term]
- Ethylmalonic aciduria [HPO term]
- External ophthalmoplegia [HPO term]
- Facial palsy [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flexion contracture [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Lethargy [HPO term]
- Myopathy [HPO term]
- Neonatal onset [HPO term]
- Progressive external ophthalmoplegia [HPO term]
- Psychosis [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Speech delay [HPO term]
ORDO concept(s)
- Short chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acyl-CoA Dehydrogenase, Short-Chain Deficiency [NCIt concept]
- Butyryl-CoA Dehydrogenase Deficiency [NCIt concept]
- Deficiency of butyryl-CoA dehydrogenase (disorder) [SNOMED CT concept]
- SCAD deficiency [MedDRA LLT]
- Short chain Acyl CoA dehydrogenase deficiency [MeSH concept]
- Short chain acyl-CoA dehydrogenase deficiency [ORDO Disease]
- Short chain acyl-CoA dehydrogenase deficiency [ICD-11 More detail]
- Short chain acyl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Short-chain acyl-CoA dehydrogenase deficiency [LOINC component]
- Short-chain acyl-coenzyme A dehydrogenase deficiency [MedDRA Preferred Term]
- short chain acyl CoA dehydrogenase deficiency [MeSH Supplementary Concept]
- short chain acyl CoA dehydrogenase deficiency [Disease (Nov.)]
- short chain acyl-CoA dehydrogenase deficiency [DO Concept]

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

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