Emery-dreifuss muscular dystrophy 5, autosomal dominant

Preferred Label : Emery-dreifuss muscular dystrophy 5, autosomal dominant;

Symbol : EDMD5;

CISMeF acronym : EDMD5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the synaptic nuclear envelope protein 1 gene (SYNE2, 608442.0001).;

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #612999;

Details

Origin ID

612999;

UMLS CUI

C2751805;

Broader ORDO disease(s)
- Emery-Dreifuss muscular dystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal dominant Emery-Dreifuss muscular dystrophy 5 [DO Concept]
DO Cross reference
- autosomal dominant Emery-Dreifuss muscular dystrophy 5 [DO Concept]
Genes related to phenotype
- Spectrin repeat-containing nuclear envelope protein 2 [OMIM gene]
HPO term(s)
- Abnormality of cardiac conduction [HPO term]
- Arrhythmia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Childhood onset [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Muscle biopsy shows dystrophic changes [HPO term]
- Muscle weakness and atrophy [HPO term]
- Muscular dystrophy [HPO term]
- Proximal amyotrophy [HPO term]
- Proximal muscle weakness [HPO term]
- Respiratory insufficiency [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]
- SYNE2 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Emery-Dreifuss muscular dystrophy [ORDO Disease]

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