Muscular Dystrophy, Limb-Girdle, Type 2r malady
Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle diseases
Aliases & Descriptions for Muscular Dystrophy, Limb-Girdle, Type 2r:
Orphanet epidemiological data:53
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases
ICD10: 30 29
Rare neurological diseases
UniProtKB/Swiss-Prot:69 Limb-girdle muscular dystrophy 2R: A form of limb-girdle muscular dystrophy, a disease characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy.
MalaCards based summary: Muscular Dystrophy, Limb-Girdle, Type 2r, also known as lgmd2r, is related to muscular dystrophy, limb-girdle, type 2a, and has symptoms including elbow flexion contracture, muscular dystrophy and scapular winging. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2r is DES (Desmin).
Disease Ontology:11 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the DES gene on chromosome 2q35.
Description from OMIM:51 615325
Genetic tests related to Muscular Dystrophy, Limb-Girdle, Type 2r:
Clinvar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2r:5
Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Type 2r.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet