Details of Disease

General Information of Disease (ID: DIS9NZDO)

• Disease Name: Autosomal recessive limb-girdle muscular dystrophy type 2P
• Synonyms: muscular dystrophy, limb-girdle, type 2P; muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9; limb-girdle muscular dystrophy type 2P; muscular dystrophy-dystroglycanopathy, limb-girdle, Dag1-related; LGMD2P; autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1; muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related; MDDGC9; muscular dystrophy-dystroglycanopathy (limb-girdle) type C9; DAG1 autosomal recessive limb-girdle muscular dystrophy
• Definition: Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.
• Disease Hierarchy:
  DISTSKL0: Muscular dystrophy-dystroglycanopathy, type C
  DIS400QP: Congenital disorder of glycosylation
  DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
  DIS9NZDO: Autosomal recessive limb-girdle muscular dystrophy type 2P
• Disease Identifiers:
  MONDO ID: MONDO_0013440
  UMLS CUI: C4511963
  OMIM ID: 613818
  MedGen ID: 1386785
  Orphanet ID: 280333
  SNOMED CT ID: 726614009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DAG1	TT4X7PG	Definitive	Autosomal recessive	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DAG1	OT6QBA05	Definitive	Autosomal recessive	[1]

References

• [1] A dystroglycan mutation associated with limb-girdle muscular dystrophy. N Engl J Med. 2011 Mar 10;364(10):939-46. doi: 10.1056/NEJMoa1006939.