Muscular Dystrophy, Limb-Girdle, Type 2e malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases
Aliases & Descriptions for Muscular Dystrophy, Limb-Girdle, Type 2e:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (United Kingdom),<1/1000000 (Europe); Age of onset: Adolescent,Childhood; Age of death: adult
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases
Rare neurological diseases
UniProtKB/Swiss-Prot:68 Limb-girdle muscular dystrophy 2E: An autosomal recessive degenerative myopathy characterized by pelvic and shoulder muscle wasting, onset usually in childhood and variable progression rate. Limb-girdle muscular dystrophy 2S: A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness with childhood onset, resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay.
MalaCards based summary: Muscular Dystrophy, Limb-Girdle, Type 2e, also known as lgmd2e, is related to calpainopathy and beta-sarcoglycanopathy, and has symptoms including dilated cardiomyopathy, elevated serum creatine phosphokinase and limb-girdle muscle weakness. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2e is TRAPPC11 (Trafficking Protein Particle Complex 11).
OMIM:50 LGMD2S is an autosomal recessive disorder characterized by childhood-onset of proximal muscle weakness resulting in... (615356) more...
Description from OMIM:50 604286
HPO human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2e:(show all 27)
UMLS symptoms related to Muscular Dystrophy, Limb-Girdle, Type 2e:ataxia, athetosis, muscle cramp, tremor, myalgia
UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2e:68
Clinvar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2e:5 (show all 15)
Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Type 2e.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet