Details of Disease

General Information of Disease (ID: DIS0FJ08)

• Disease Name: Autosomal recessive limb-girdle muscular dystrophy type 2K
• Synonyms: muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1; muscular dystrophy, limb-girdle, type 2K; limb-girdle muscular dystrophy - intellectual disability; limb-girdle muscular dystrophy type 2K; MDDGC1; muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1; POMT1 autosomal recessive limb-girdle muscular dystrophy; LGMD2K; muscular dystrophy limb-girdle type 2K; LGMD-POMT1 related; autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1; muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 1; limb-girdle muscular dystrophy-intellectual disability syndrome
• Definition: Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.
• Disease Hierarchy:
  DISS717V: Myopathy caused by variation in POMT1
  DIS0GENS: Qualitative or quantitative defects of protein O-mannosyltransferase 1
  DISTSKL0: Muscular dystrophy-dystroglycanopathy, type C
  DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
  DIS0FJ08: Autosomal recessive limb-girdle muscular dystrophy type 2K
• Disease Identifiers:
  MONDO ID: MONDO_0012248
  MESH ID: D058494
  UMLS CUI: C1836373
  OMIM ID: 609308
  MedGen ID: 332193
  Orphanet ID: 86812
  SNOMED CT ID: 720523006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CRPPA	OTC85K8Q	Limited	Biomarker	[1]
POMT1	OTGQSHL5	Supportive	Autosomal recessive	[2]

References

• [1] Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of -dystroglycan.Nat Genet. 2012 May;44(5):581-5. doi: 10.1038/ng.2253.
• [2] Limb-Girdle Muscular Dystrophy Overview C RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2000 Jun 8 [updated 2012 Aug 30].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.