Details of Disease

General Information of Disease (ID: DISXFDEG)

• Disease Name: Autosomal recessive limb-girdle muscular dystrophy type 2F
• Synonyms: muscular dystrophy, limb-girdle, type 2F; muscular dystrophy limb-girdle with delta-sarcoglyan deficiency; limb-girdle muscular dystrophy type 2F; delta-sarcoglycanopathy; limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency; autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD; SGCD autosomal recessive limb-girdle muscular dystrophy; LGMD2F; muscular dystrophy, limb-girdle, autosomal recessive 6
• Definition: Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.
• Disease Hierarchy:
  DISBHDU9: Familial dilated cardiomyopathy
  DISTXLNV: Qualitative or quantitative defects of delta-sarcoglycan
  DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy
  DISXFDEG: Autosomal recessive limb-girdle muscular dystrophy type 2F
• Disease Identifiers:
  MONDO ID: MONDO_0011028
  MESH ID: C535896
  UMLS CUI: C1832525
  OMIM ID: 601287
  MedGen ID: 331308
  Orphanet ID: 219
  SNOMED CT ID: 718177001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

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

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TCAP	OTQQMJ94	Strong	Genetic Variation	[1]
SGCD	OTRBL3NQ	Definitive	Autosomal recessive	[2]

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] 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.