Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency

Preferred Label : Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lchad deficiency;

Description : Isolated deficiency of long-chain 3-hydroxyl-CoA dehydrogenase (LCHAD) is an autosomal recessive disorder characterized by early-onset cardiomyopathy, hypoglycemia, neuropathy, and pigmentary retinopathy, and sudden death (IJlst et al., 1996).;

Prefixed ID : #609016;

Détails

Origin ID

609016;

UMLS CUI

C3711645;

Automatic exact mappings (from CISMeF team)
- Long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency [MedDRA LLT]
Currated CISMeF NLP mapping
- Decreased 3-hydroxyacyl-CoA dehydrogenase level [HPO term]
- LCHAD deficiency [MedDRA LLT]
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ICD-11 More detail]
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ORDO Disease]
- Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency [NCIt concept]
- Mitochondrial Trifunctional Protein Deficiency [NCIt concept]
- trifunctional protein deficiency with myopathy and neuropathy [MeSH Supplementary Concept]
Genes related to phenotype
- Hydroxyacyl-coa dehydrogenase/3-ketoacyl-coa thiolase/enoyl-coa hydratase, alpha subunit [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Decreased 3-hydroxyacyl-CoA dehydrogenase level [HPO term]
- Hepatomegaly [HPO term]
- Hypoglycemia [HPO term]
- Hypotonia [HPO term]
- Pigmentary retinopathy [HPO term]
- Sudden death [HPO term]
ORDO concept(s)
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ORDO Disease]
See also inter- (CISMeF)
- Mitochondrial trifunctional protein deficiency [ICD-11 More detail]
- Mitochondrial trifunctional protein deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- LCHAD deficiency [MedDRA LLT]
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ORDO Disease]
- Long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency [NCIt concept]
- Long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency [MedDRA LLT]
- Mitochondrial Trifunctional Protein Deficiency [NCIt concept]
- Mitochondrial trifunctional protein deficiency [ORDO Disease]
- Mitochondrial trifunctional protein deficiency (disorder) [SNOMED CT concept]
- trifunctional protein deficiency with myopathy and neuropathy [MeSH concept]
- trifunctional protein deficiency with myopathy and neuropathy [MeSH Supplementary Concept]
- trifunctional protein deficiency, type 1 [MeSH concept]

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