3-hydroxyacyl-coa dehydrogenase deficiency

Preferred Label : 3-hydroxyacyl-coa dehydrogenase deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hadh deficiency; Schad deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the L-3-hydroxyacyl-CoA dehydrogenase gene (HAD, 601609.0001).;

Laboratory abnormalities : Hypoglycemia; Myoglobinuria (reported in 1 patient); Dicarboxylic aciduria; Some tissues may have normal levels of 3-hydroxyacyl-CoA dehydrogenase activity; Decreased activity of 3-hydroxyacyl-CoA dehydrogenase in various tissues (liver, muscle, fibroblasts);

Prefixed ID : #231530;

Détails

Origin ID

231530;

UMLS CUI

C1291230;

Automatic exact mappings (from CISMeF team)
- 3-hydroxyacyl-coa dehydrogenase deficiency [Artificial nutrition thesaurus concept]
Currated CISMeF NLP mapping
- 3-hydroxyacyl-CoA dehydrogenase deficiencies [ICD-11 More detail]
- 3-hydroxyacyl-CoA dehydrogenase deficiency [ORDO Disease]
- 3-hydroxyacyl-coa dehydrogenase deficiency [MeSH concept]
- 3-hydroxyacyl-coa dehydrogenase deficiency [MeSH Supplementary Concept]
- Deficiency of 3-hydroxyacyl-CoA dehydrogenase (disorder) [SNOMED CT concept]
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency [ORDO Disease]
Genes related to phenotype
- 3-hydroxyacyl-coa dehydrogenase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased 3-hydroxyacyl-CoA dehydrogenase level [HPO term]
- Dicarboxylic aciduria [HPO term]
- Dilated cardiomyopathy [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Fulminant hepatic failure [HPO term]
- Generalized hypotonia [HPO term]
- Growth delay [HPO term]
- Hepatic necrosis [HPO term]
- Hepatic steatosis [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hypoglycemia, hypoketotic [HPO term]
- Hypoglycemic encephalopathy [HPO term]
- Hypoglycemic seizures [HPO term]
- Hypoketotic hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Myoglobinuria [HPO term]
ORDO concept(s)
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3-hydroxyacyl-CoA dehydrogenase deficiencies [ICD-11 More detail]
- 3-hydroxyacyl-CoA dehydrogenase deficiency [ORDO Disease]
- 3-hydroxyacyl-coa dehydrogenase deficiency [MeSH Supplementary Concept]
- 3-hydroxyacyl-coa dehydrogenase deficiency [MeSH concept]
- Deficiency of 3-hydroxyacyl-CoA dehydrogenase (disorder) [SNOMED CT concept]
- Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency [ORDO Disease]
Validated automatic mappings to BTNT
- Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ICD-11 More detail]

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

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