Emery-dreifuss muscular dystrophy 7, autosomal dominant

Preferred Label : Emery-dreifuss muscular dystrophy 7, autosomal dominant;

Symbol : EDMD7;

CISMeF acronym : EDMD7;

Type : Phenotype, molecular basis known;

Description : Emery-Driefuss muscular dystrophy is a genetically heterogeneous muscular disease that presents with muscular dystrophy, joint contractures, and cardiomyopathy with conduction defects (summary by Liang et al., 2011). For a discussion of genetic heterogeneity of EDMD, see 310300.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transmembrane 43 gene (TMEM43, 612048.0002);

Prefixed ID : #614302;

Details

Origin ID

614302;

UMLS CUI

C3553060;

Currated CISMeF NLP mapping
- autosomal dominant Emery-Dreifuss muscular dystrophy 7 [DO Concept]
DO Cross reference
- autosomal dominant Emery-Dreifuss muscular dystrophy 7 [DO Concept]
Genes related to phenotype
- Transmembrane protein 43 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Arrhythmia [HPO term]
- Atrial fibrillation [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bradycardia [HPO term]
- Muscular dystrophy [HPO term]
- Neck muscle weakness [HPO term]
- Proximal amyotrophy [HPO term]
- Proximal muscle weakness [HPO term]
- Slowly progressive [HPO term]
ORDO concept(s)
- Autosomal dominant Emery-Dreifuss muscular dystrophy [ORDO Disease]
- Emery-Dreifuss muscular dystrophy [ORDO Disease]
See also inter- (CISMeF)
- Autosomal dominant Emery-Dreifuss muscular dystrophy [ORDO Disease]
- TMEM43 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Emery-Dreifuss muscular dystrophy [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients