Cardiomyopathy, dilated, 1gg

Preferred Label : Cardiomyopathy, dilated, 1gg;

Symbol : CMD1GG;

CISMeF acronym : CMD1GG;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the succinate dehydrogenase complex, subunit A, flavoprotein gene (SDHA, 600857.0004);

Laboratory abnormalities : Decreased complex II activity myocardium (15-18% residual activity); Mildly increased lactate; Decreased complex II activity muscle (50-60% residual activity);

Prefixed ID : #613642;

Détails

Origin ID

613642;

UMLS CUI

C3150898;

Automatic exact mappings (from CISMeF team)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
- SDHA wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- dilated cardiomyopathy 1GG [DO Concept]
DO Cross reference
- dilated cardiomyopathy 1GG [DO Concept]
Genes related to phenotype
- Succinate dehydrogenase complex, flavoprotein subunit a [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Dilated cardiomyopathy [HPO term]
ORDO concept(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- dilated cardiomyopathy 1GG [DO Concept]

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

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