Details of Disease

General Information of Disease (ID: DISVD9UN)

• Disease Name: Autosomal recessive limb-girdle muscular dystrophy type 2X
• Synonyms: BVES autosomal recessive limb-girdle muscular dystrophy; autosomal recessive limb-girdle muscular dystrophy caused by mutation in BVES; muscular dystrophy, limb-girdle, type 2x; LGMD2X; autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome; muscular dystrophy, limb-girdle, autosomal recessive 25; muscular dystrophy, limb-girdle, type 2X
• Definition: Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers.
• Disease Hierarchy:
  DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
  DISVD9UN: Autosomal recessive limb-girdle muscular dystrophy type 2X
• Disease Identifiers:
  MONDO ID: MONDO_0014782
  UMLS CUI: C5568138
  OMIM ID: 616812
  MedGen ID: 1799561
  Orphanet ID: 476084
  SNOMED CT ID: 1179295004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BVES	OT4GT1WC	Strong	Autosomal recessive	[1]

References

• [1] POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking. J Clin Invest. 2016 Jan;126(1):239-53. doi: 10.1172/JCI79562. Epub 2015 Dec 7.