Details of Disease

General Information of Disease (ID: DISYWUPW)

• Disease Name: Autosomal recessive limb-girdle muscular dystrophy type 2T
• Synonyms: muscular dystrophy, limb-girdle, type 2T; muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14; muscular dystrophy-dystroglycanopathy, limb-girdle, GMPPB-related; limb-girdle muscular dystrophy type 2T; autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPB; LGMD-GMPPB related; LGMD2T; muscular dystrophy limb-girdle type 2T; MDDGC14; muscular dystrophy-dystroglycanopathy (limb-girdle) type C14; muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related; GMPPB autosomal recessive limb-girdle muscular dystrophy
• Definition: Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.
• Disease Hierarchy:
  DIS42PW9: Myopathy caused by variation in GMPPB
  DISTSKL0: Muscular dystrophy-dystroglycanopathy, type C
  DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
  DISYWUPW: Autosomal recessive limb-girdle muscular dystrophy type 2T
• Disease Identifiers:
  MONDO ID: MONDO_0014142
  UMLS CUI: C4518000
  OMIM ID: 615352
  MedGen ID: 1377325
  Orphanet ID: 363623
  SNOMED CT ID: 732930007

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
GMPPB	OTJ0CCJ8	Strong	Autosomal recessive	[1]

References

• [1] PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.