You are using an outdated browser. Please upgrade your browser to improve your experience.
autosomal recessive limb-girdle muscular dystrophy type 2W
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration.
Uniprot Description A form of autosomal recessive limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMD2W is characterized by childhood-onset of weakness progressing to a severe quadriparesis. Additionally, patients have biventricular cardiac dysfunction due to dilated cardiomyopathy.
Disease Ontology Description An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in compound heterozygous mutation in the LIMS2 gene on chromosome 2q14.
Mondo Term and Equivalent IDs
MONDO:0014788: autosomal recessive limb-girdle muscular dystrophy type 2W
Download Data for autosomal recessive limb-girdle muscular dystrophy type 2W
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110288
OMIM:616827
Orphanet:466801
UMLS:C4225192
MONDO:0014788
High level summary of knowledge for a disease, including descriptions and datasource references.