Details of Disease

General Information of Disease (ID: DISBXWDP)

• Disease Name: Autosomal dominant limb-girdle muscular dystrophy type 1F
• Synonyms: limb-girdle muscular dystrophy type 1F; muscular dystrophy, limb-girdle, type 1F; muscular dystrophy, limb-girdle, autosomal dominant 2; LGMD1F; muscular dystrophy limb-girdle type 1F
• Definition: Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.
• Disease Hierarchy:
  DISMMHPT: Muscular dystrophy, limb-girdle, autosomal dominant
  DISBXWDP: Autosomal dominant limb-girdle muscular dystrophy type 1F
• Disease Identifiers:
  MONDO ID: MONDO_0012034
  MESH ID: C564242
  UMLS CUI: C1842062
  OMIM ID: 608423
  MedGen ID: 333983
  Orphanet ID: 55595
  SNOMED CT ID: 719989007

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
TNPO3	OTOT3HH0	Strong	Autosomal dominant	[1]

References

• [1] Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. Brain. 2013 May;136(Pt 5):1508-17. doi: 10.1093/brain/awt074. Epub 2013 Mar 29.