2,4-dienoyl-coa reductase deficiency

Preferred Label : 2,4-dienoyl-coa reductase deficiency;

Symbol : DECRD;

CISMeF acronym : DECRD;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial NAD kinase 2 gene (NADK2, 615787.0001);

Laboratory abnormalities : Increased lactate; Decreased mitochondrial NADP(H); Hyperlysinemia; Decreased plasma free carnitine; Increased C10:2-carnitine; Abnormal urinary organic acids; Decreased DECR enzyme activity; Increased pipecolic acid;

Prefixed ID : #616034;

Details

Origin ID

616034;

UMLS CUI

C1857252;

Currated CISMeF NLP mapping
- 2,4-Dienoyl-CoA reductase deficiency [MeSH Supplementary Concept]
- 2,4-Dienoyl-CoA reductase deficiency [MeSH concept]
- Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder) [SNOMED CT concept]
- Progressive encephalopathy with leukodystrophy due to DECR deficiency [ORDO Disease]
Genes related to phenotype
- Nad kinase 2, mitochondrial [OMIM gene]
HPO term(s)
- Abnormality of eye movement [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral visual impairment [HPO term]
- Choreoathetosis [HPO term]
- Death in infancy [HPO term]
- Decreased plasma free carnitine [HPO term]
- Dystonia [HPO term]
- Encephalopathy [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Hyperlysinemia [HPO term]
- Hypotonia [HPO term]
- Leukodystrophy [HPO term]
- Microcephaly [HPO term]
- Neonatal hypotonia [HPO term]
- Nystagmus [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Tetraplegia [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Progressive encephalopathy with leukodystrophy due to DECR deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 2,4-Dienoyl-CoA reductase deficiency [MeSH concept]
- 2,4-Dienoyl-CoA reductase deficiency [MeSH Supplementary Concept]
- Deficiency of 2,4-dienoyl-coenzyme A reductase (disorder) [SNOMED CT concept]
- Progressive encephalopathy with leukodystrophy due to DECR deficiency [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients