Muscular dystrophy, limb-girdle, autosomal recessive 1

Preferred Label : Muscular dystrophy, limb-girdle, autosomal recessive 1;

Symbol : LGMDR1;

CISMeF acronym : LGMD2A; LGMD2; LGMDR1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, limb-girdle, type 2; Muscular dystrophy, pelvofemoral; Leyden-moebius muscular dystrophy; LGMD2; CALPAINOPATHY; Muscular dystrophy, limb-girdle, type 2a; LGMD2A;

Included titles and symbols : Myositis, eosinophilic;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the calpain 3 gene (CAPN3, 114240.0001);

Laboratory abnormalities : Elevated creatine kinase; Transient eosinophilia in first decade;

Prefixed ID : #253600;

Details

Origin ID

253600;

UMLS CUI

C1869123;

Automatic exact mappings (from CISMeF team)
- Eosinophilic myositis (disorder) [SNOMED CT concept]
- Myositis, Eosinophilic [MeSH concept]
- TRAPPC11-related limb-girdle muscular dystrophy R18 [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal recessive limb girdle muscular dystrophy type 2A (disorder) [SNOMED CT concept]
- Calpain-3-related limb-girdle muscular dystrophy R1 [ORDO Disease]
- Limb-Girdle Muscular Dystrophy Type 2A [NCIt concept]
- Limb-girdle muscular dystrophy type 2A [MeSH concept]
- autosomal recessive limb-girdle muscular dystrophy type 2A [DO Concept]
- limb girdle muscular dystrophy type 2a [Disease (Nov.)]
- limb-girdle muscular dystrophy type 2A [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive limb-girdle muscular dystrophy type 2A [DO Concept]
Genes related to phenotype
- Calpain 3 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Clumsiness [HPO term]
- Difficulty walking [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Facial palsy [HPO term]
- Flexion contracture [HPO term]
- Gait disturbance [HPO term]
- Increased total eosinophil count [HPO term]
- Juvenile onset [HPO term]
- Lower limb muscle weakness [HPO term]
- Muscle eosinophilia [HPO term]
- Muscular dystrophy [HPO term]
- Myositis [HPO term]
- Proximal amyotrophy [HPO term]
- Scapular winging [HPO term]
- Symmetric proximal muscular atrophy [HPO term]
ORDO concept(s)
- Calpain-3-related limb-girdle muscular dystrophy R1 [ORDO Disease]
See also inter- (CISMeF)
- autosomal recessive limb-girdle muscular dystrophy type 2S [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive limb girdle muscular dystrophy type 2A (disorder) [SNOMED CT concept]
- Calpain-3-related limb-girdle muscular dystrophy R1 [ORDO Disease]
- Limb-Girdle Muscular Dystrophy Type 2A [NCIt concept]
- Limb-girdle muscular dystrophy type 2A [MeSH concept]
- autosomal recessive limb-girdle muscular dystrophy type 2A [DO Concept]
- limb girdle muscular dystrophy type 2a [Disease (Nov.)]
- limb-girdle muscular dystrophy type 2A [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Limb-girdle muscular dystrophy (disorder) [Inactive SNOMED CT concept]
- limb girdle muscular dystrophy type 2 [Disease (Nov.)]

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