Dimethylglycine dehydrogenase deficiency

Preferred Label : Dimethylglycine dehydrogenase deficiency;

Symbol : DMGDHD;

CISMeF acronym : DMGDHD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dmgdh deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dimethylglycine dehydrogenase gene (DMGDH, 605849.0001);

Laboratory abnormalities : Elevated serum creatine kinase; Elevated serum N,N-dimethylglycine (DMG); Elevated urinary N,N-dimethylglycine (DMG); Dimethylglycine dehydrogenase (DMGDH) deficiency;

Prefixed ID : #605850;

Details

Origin ID

605850;

UMLS CUI

C1853892;

Currated CISMeF NLP mapping
- Deficiency of dimethylglycine dehydrogenase (disorder) [SNOMED CT concept]
- Dimethylglycine dehydrogenase deficiency [ORDO Disease]
- dimethylglycine dehydrogenase deficiency [Disease (Nov.)]
- dimethylglycine dehydrogenase deficiency [MeSH concept]
- dimethylglycine dehydrogenase deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Dimethylglycine dehydrogenase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Elevated circulating N,N-dimethylglycine concentration [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Elevated urinary N,N-dimethylglycine level [HPO term]
- Fish odor [HPO term]
- Increased muscle fatiguability [HPO term]
ORDO concept(s)
- Dimethylglycine dehydrogenase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of dimethylglycine dehydrogenase (disorder) [SNOMED CT concept]
- Dimethylglycine dehydrogenase deficiency [ORDO Disease]
- dimethylglycine dehydrogenase deficiency [MeSH Supplementary Concept]
- dimethylglycine dehydrogenase deficiency [MeSH concept]
- dimethylglycine dehydrogenase deficiency [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients