Emery-dreifuss muscular dystrophy 2, autosomal dominant

Preferred Label : Emery-dreifuss muscular dystrophy 2, autosomal dominant;

Symbol : EDMD2;

CISMeF acronym : EDMD2; EMD2; LGMD1B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Emery-dreifuss muscular dystrophy, autosomal dominant; Hauptmann-thannhauser muscular dystrophy; Muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant; EMD2; Scapuloilioperoneal atrophy with cardiopathy; Muscular dystrophy, proximal, type 1b; Cardiomyopathy, dilated, with quadriceps myopathy; LGMD1B; Muscular dystrophy, limb-girdle, type 1b;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the lamin A/C gene (LMNA, 150330.0001);

Laboratory abnormalities : Moderately increased serum creatine kinase;

Prefixed ID : #181350;

Détails

Origin ID

181350;

UMLS CUI

C0410190;

Automatic exact mappings (from CISMeF team)
- Autosomal Emery-Dreifuss Muscular Dystrophy [MeSH Descriptor]
- Autosomal dominant limb-girdle muscular dystrophy type 1B [ORDO Disease]
- LMNA wt Allele [NCIt concept]
- Limb-girdle muscular dystrophy, type 1B [MeSH concept]
- limb-girdle muscular dystrophy, type 1B [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Emery-Dreifuss muscular dystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal dominant Emery-Dreifuss muscular dystrophy [ORDO Disease]
- Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder) [SNOMED CT concept]
- Benign scapuloperoneal muscular dystrophy with cardiomyopathy (disorder) [SNOMED CT concept]
- Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant [NCIt concept]
- Emery-Dreifuss muscular dystrophy, autosomal dominant [ICD-11 More detail]
- autosomal dominant Emery-Dreifuss muscular dystrophy [MeSH concept]
- autosomal dominant Emery-Dreifuss muscular dystrophy 2 [DO Concept]
DO Cross reference
- autosomal dominant Emery-Dreifuss muscular dystrophy 2 [DO Concept]
Genes related to phenotype
- Lamin a/C [OMIM gene]
HPO term(s)
- Achilles tendon contracture [HPO term]
- Arrhythmia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased cervical spine flexion due to contractures of posterior cervical muscles [HPO term]
- Dilated cardiomyopathy [HPO term]
- Distal lower limb amyotrophy [HPO term]
- Distal lower limb muscle weakness [HPO term]
- Elbow flexion contracture [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Limb muscle weakness [HPO term]
- Limb-girdle muscle weakness [HPO term]
- Limb-girdle muscular dystrophy [HPO term]
- Mildly elevated creatine kinase [HPO term]
- Muscular dystrophy [HPO term]
- Peroneal muscle atrophy [HPO term]
- Peroneal muscle weakness [HPO term]
- Restricted neck movement due to contractures [HPO term]
- Scapular winging [HPO term]
- Slowly progressive [HPO term]
- Spinal rigidity [HPO term]
- Sudden cardiac death [HPO term]
- Variable expressivity [HPO term]
- Weakness [HPO term]
ORDO concept(s)
- Autosomal dominant Emery-Dreifuss muscular dystrophy [ORDO Disease]
- Emery-Dreifuss muscular dystrophy [ORDO Disease]
See also inter- (CISMeF)
- Autosomal recessive Emery-Dreifuss muscular dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Emery-Dreifuss muscular dystrophy [ORDO Disease]
- Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder) [SNOMED CT concept]
- Benign scapuloperoneal muscular dystrophy with cardiomyopathy (disorder) [SNOMED CT concept]
- Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant [NCIt concept]
- autosomal dominant Emery-Dreifuss muscular dystrophy [MeSH concept]
Validated automatic mappings to NTBT
- Emery-Dreifuss muscular dystrophy [ORDO Disease]
- muscular dystrophy, emery-dreifuss [MeSH Descriptor]

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