Oxoglutarate dehydrogenase deficiency

Preferred Label : Oxoglutarate dehydrogenase deficiency;

Symbol : OGDHD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 2-ketoglutarate dehydrogenase deficiency; Alpha-kgd deficiency; Oxoglutaric aciduria; Alpha-ketoglutarate dehydrogenase deficiency;

Description : Alpha-ketoglutarate dehydrogenase deficiency is sometimes a feature of DLD deficiency (DDLD; 246900), which is caused by mutation in the DLD gene (238331) on chromosome 7q31-q32.;

Inheritance : Autosomal recessive;

Prefixed ID : #203740;

Détails

Origin ID

203740;

UMLS CUI

C2752074;

Currated CISMeF NLP mapping
- Alpha-ketoglutarate dehydrogenase deficiency [ICD-11 More detail]
- Alpha-ketoglutarate dehydrogenase deficiency [MeSH concept]
- Deficiency of alpha-ketoglutarate dehydrogenase (disorder) [SNOMED CT concept]
- Deficiency of oxoglutarate dehydrogenase (lipoamide) (disorder) [SNOMED CT concept]
- Oxoglutaric aciduria [ORDO Disease]
- alpha-ketoglutarate dehydrogenase deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Oxoglutarate dehydrogenase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Congenital lactic acidosis [HPO term]
- Death in childhood [HPO term]
- Delayed gross motor development [HPO term]
- Delayed speech and language development [HPO term]
- Dysmetria [HPO term]
- Dystonia [HPO term]
- Early death [HPO term]
- Falls [HPO term]
- Gait ataxia [HPO term]
- Generalized amyotrophy [HPO term]
- Hypotonia [HPO term]
- Increased serum lactate [HPO term]
- Infantile onset [HPO term]
- Metabolic acidosis [HPO term]
- Motor delay [HPO term]
- Rigidity [HPO term]
- Unsteady gait [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Oxoglutaric aciduria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alpha-ketoglutarate dehydrogenase deficiency [MeSH concept]
- Deficiency of alpha-ketoglutarate dehydrogenase (disorder) [SNOMED CT concept]
- Oxoglutaric aciduria [ORDO Disease]
- alpha-ketoglutarate dehydrogenase deficiency [MeSH Supplementary Concept]

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

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