Details of Disease

General Information of Disease (ID: DISQH5PB)

• Disease Name: Autosomal recessive limb-girdle muscular dystrophy type 2E
• Synonyms: muscular dystrophy limb-girdle with beta-sarcoglycan deficiency; beta-sarcoglycan limb-girdle muscular dystrophy; beta-sarcoglycanopathy; limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency; muscular dystrophy, limb-girdle, type 2E; beta-sarcoglycan-related limb-girdle muscular dystrophy R4; SGCB autosomal recessive limb-girdle muscular dystrophy; LGMD due to beta-sarcoglycan deficiency; LGMD type 2E; LGMDR4; autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB; autosomal recessive limb-girdle muscular dystrophy type 2E; LGMD2E; beta-sarcoglycan-related LGMD R4; limb-girdle muscular dystrophy type 2E; muscular dystrophy, limb-girdle, autosomal recessive 4
• Definition: Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.
• Disease Hierarchy:
  DISBHDU9: Familial dilated cardiomyopathy
  DISTWCEP: Qualitative or quantitative defects of beta-sarcoglycan
  DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
  DISQH5PB: Autosomal recessive limb-girdle muscular dystrophy type 2E
• Disease Identifiers:
  MONDO ID: MONDO_0011423
  MESH ID: C535902
  UMLS CUI: C1858593
  OMIM ID: 604286
  MedGen ID: 347674
  Orphanet ID: 119
  SNOMED CT ID: 718850008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DYSF	TTA7MXQ	Strong	Biomarker	[1]
SGCB	TTEDCQ0	Strong	Genetic Variation	[2]
SGCB	TTEDCQ0	Definitive	Autosomal recessive	[3]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TCAP	OTQQMJ94	Strong	Biomarker	[1]
TRIM32	OTJOV0PG	Strong	Biomarker	[1]
SGCB	OT5R5LAT	Definitive	Autosomal recessive	[3]

References

• [1] Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G.Am J Med Genet. 1999 Feb 19;82(5):392-8. doi: 10.1002/(sici)1096-8628(19990219)82:5<392::aid-ajmg7>3.0.co;2-0.
• [2] Morphological and functional analyses of skeletal muscles from an immunodeficient animal model of limb-girdle muscular dystrophy type 2E.Muscle Nerve. 2018 Feb 24;58(1):133-44. doi: 10.1002/mus.26112. Online ahead of print.
• [3] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.