Details of Disease

General Information of Disease (ID: DISBPXU2)

Disease Name Muscular dystrophy, limb-girdle, autosomal recessive 26
Synonyms MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26; muscular dystrophy, limb-girdle, autosomal recessive 26; LGMDR26
Disease Hierarchy
DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
DISBPXU2: Muscular dystrophy, limb-girdle, autosomal recessive 26
Disease Identifiers
MONDO ID
MONDO_0030014
UMLS CUI
C5394268
OMIM ID
618848
MedGen ID
1718449

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
POPDC3 OTN4FJ5J Strong Autosomal recessive [1]
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References

1 POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy. Ann Neurol. 2019 Dec;86(6):832-843. doi: 10.1002/ana.25620. Epub 2019 Oct 28.