Details of Disease

General Information of Disease (ID: DISCTJYI)

• Disease Name: Autosomal recessive limb-girdle muscular dystrophy type 2G
• Synonyms: limb-girdle muscular dystrophy, type 2G; Tcap autosomal recessive limb-girdle muscular dystrophy; LGMD2G; muscular dystrophy, limb-girdle, type 2G; limb-girdle muscular dystrophy due to telethonin deficiency; autosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcap; TCAP autosomal recessive limb-girdle muscular dystrophy; autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP; muscular dystrophy, limb-girdle, autosomal recessive 7
• Definition: Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.
• Disease Hierarchy:
  DIS1NYL8: Qualitative or quantitative defects of telethonin
  DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
  DISCTJYI: Autosomal recessive limb-girdle muscular dystrophy type 2G
• Disease Identifiers:
  MONDO ID: MONDO_0011170
  MESH ID: C566599
  UMLS CUI: C1866008
  OMIM ID: 601954
  MedGen ID: 400895
  Orphanet ID: 34514
  SNOMED CT ID: 720522001

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
TCAP	OTQQMJ94	Strong	Autosomal recessive	[1]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.