Details of Disease

General Information of Disease (ID: DISHF17L)

• Disease Name: Autosomal recessive limb-girdle muscular dystrophy type 2Y
• Synonyms: TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy; muscular dystrophy with progressive weakness, distal contractures and rigid spine; LGMD2Y; autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency; muscular dystrophy, limb-girdle, type 2y; autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1; muscular dystrophy, limb-girdle, type 2Y; autosomal recessive muscular dystrophy due to LAP1B deficiency; muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures
• Definition: Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.
• Disease Hierarchy:
  DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
  DISHF17L: Autosomal recessive limb-girdle muscular dystrophy type 2Y
• Disease Identifiers:
  MONDO ID: MONDO_0014900
  UMLS CUI: C4511482
  OMIM ID: 617072
  MedGen ID: 1385152
  Orphanet ID: 424261
  SNOMED CT ID: 725907002

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
TOR1AIP1	OTTG8MAK	Strong	Autosomal recessive	[1]

References

• [1] Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance. Dev Cell. 2013 Sep 30;26(6):591-603. doi: 10.1016/j.devcel.2013.08.012. Epub 2013 Sep 19.