Details of Disease

General Information of Disease (ID: DISINP9B)

Disease Name Autosomal recessive limb-girdle muscular dystrophy type 2I
Synonyms
muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5; muscular dystrophy, limb-girdle, type 2I; muscular dystrophy-dystroglycanopathy, limb-girdle, Frkp-related; limb-girdle muscular dystrophy type 2I; muscular dystrophy limb-girdle type 2I; muscular dystrophy-dystroglycanopathy (limb-girdle), type C5; muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5; muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related; autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP; LGMD2I; MDDGC5; FKRP autosomal recessive limb-girdle muscular dystrophy; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5; LGMD-FKRP related; limb-girdle muscular dystrophy due to FKRP deficiency
Definition
A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.
Disease Hierarchy
DISRZVV9: Qualitative or quantitative defects of FKRP
DISZKUF8: Myopathy caused by variation in FKRP
DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
DISINP9B: Autosomal recessive limb-girdle muscular dystrophy type 2I
Disease Identifiers
MONDO ID
MONDO_0011787
MESH ID
C564612
UMLS CUI
C1846672
OMIM ID
607155
MedGen ID
339580
Orphanet ID
34515
SNOMED CT ID
718180000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FKRP OTMUZ7GH Definitive Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.