Details of Disease

General Information of Disease (ID: DISYOWK1)

• Disease Name: Autosomal recessive limb-girdle muscular dystrophy type 2N
• Synonyms: muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2; muscular dystrophy, limb-girdle, type 2N; limb-girdle muscular dystrophy type 2N; muscular dystrophy-dystroglycanopathy, limb-girdle, Pomt2-related; LGMD2N; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2; autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2; muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related; MDDGC2; LGMD-POMT2 related; POMT2 autosomal recessive limb-girdle muscular dystrophy
• Definition: Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability.
• Disease Hierarchy:
  DISRHLQP: Myopathy caused by variation in POMT2
  DISTSKL0: Muscular dystrophy-dystroglycanopathy, type C
  DISQCI1P: Qualitative or quantitative defects of protein O-mannosyltransferase 2
  DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
  DISYOWK1: Autosomal recessive limb-girdle muscular dystrophy type 2N
• Disease Identifiers:
  MONDO ID: MONDO_0013162
  UMLS CUI: C3150418
  OMIM ID: 613158
  MedGen ID: 461768
  Orphanet ID: 206559
  SNOMED CT ID: 726617002

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
POMT2	OTO1ZQZX	Supportive	Autosomal recessive	[1]

References

• [1] Limb-Girdle Muscular Dystrophy Overview C RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2000 Jun 8 [updated 2012 Aug 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.