Mitochondrial short-chain enoyl-coa hydratase 1 deficiency

Preferred Label : Mitochondrial short-chain enoyl-coa hydratase 1 deficiency;

Symbol : ECHS1D;

CISMeF acronym : ECHS1D;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial enoyl-CoA hydratase, short-chain, 1 gene (ECHS1, 602292.0001);

Laboratory abnormalities : Increased CSF lactate; Increased serum lactate; Secondarily decreased activity of the pyruvate dehydrogenase complex (PDC); Increased urinary S-(2-carboxypropyl)cysteine; Increased 2-methyl-2,3-dihydroxybutyrate; Increased urinary glyoxylate (1 patient);

Prefixed ID : #616277;

Details

Origin ID

616277;

UMLS CUI

C4225391;

Currated CISMeF NLP mapping
- Mitochondrial Short-Chain Enoyl-CoA Hydratase-1 Deficiency [NCIt concept]
Genes related to phenotype
- Enoyl-coa hydratase, short-chain, 1, mitochondrial [OMIM gene]
HPO term(s)
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased activity of the pyruvate dehydrogenase complex [HPO term]
- Dystonia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hypotonia [HPO term]
- Increased CSF lactate [HPO term]
- Increased serum lactate [HPO term]
- Nystagmus [HPO term]
- Spasticity [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Leigh syndrome with leukodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial Short-Chain Enoyl-CoA Hydratase-1 Deficiency [NCIt concept]

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