Details of Disease

General Information of Disease (ID: DISFNUC7)

• Disease Name: Autosomal recessive limb-girdle muscular dystrophy type 2W
• Synonyms: LIMS2 autosomal recessive limb-girdle muscular dystrophy; muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue; muscular dystrophy, limb-girdle, type 2W; LGMD2W; autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2; muscular dystrophy, limb-girdle, type 2w
• Definition: 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.
• Disease Hierarchy:
  DISBHDU9: Familial dilated cardiomyopathy
  DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
  DISFNUC7: Autosomal recessive limb-girdle muscular dystrophy type 2W
• Disease Identifiers:
  MONDO ID: MONDO_0014788
  UMLS CUI: C4225192
  OMIM ID: 616827
  MedGen ID: 897675
  Orphanet ID: 466801
  SNOMED CT ID: 1179297007

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
LIMS2	OTZ7IIPM	Supportive	Autosomal recessive	[1]

References

• [1] LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. Clin Genet. 2015 Dec;88(6):558-64. doi: 10.1111/cge.12561. Epub 2015 Feb 26.