Emery-dreifuss muscular dystrophy 4, autosomal dominant

Preferred Label : Emery-dreifuss muscular dystrophy 4, autosomal dominant;

Symbol : EDMD4;

CISMeF acronym : EDMD4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Emery-dreifuss muscular dystrophy 4 with variable features;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the synaptic nuclear envelope protein 1 gene (SYNE1, 608441.0008).;

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #612998;

Détails

Origin ID

612998;

UMLS CUI

C2751807;

Broader ORDO disease(s)
- Emery-Dreifuss muscular dystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- Emery-Dreifuss muscular dystrophy 4 [MeSH concept]
- Emery-Dreifuss muscular dystrophy 4 [MeSH Supplementary Concept]
- autosomal dominant Emery-Dreifuss muscular dystrophy 4 [DO Concept]
DO Cross reference
- autosomal dominant Emery-Dreifuss muscular dystrophy 4 [DO Concept]
Genes related to phenotype
- Spectrin repeat-containing nuclear envelope protein 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Muscle weakness and atrophy [HPO term]
- Muscular dystrophy [HPO term]
- Neck muscle weakness [HPO term]
- Proximal amyotrophy [HPO term]
- Proximal muscle weakness [HPO term]
- Ventricular septal hypertrophy [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]
- SYNE1 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Emery-Dreifuss muscular dystrophy 4 [MeSH Supplementary Concept]
- Emery-Dreifuss muscular dystrophy 4 [MeSH concept]
Validated automatic mappings to NTBT
- Emery-Dreifuss muscular dystrophy [ORDO Disease]

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