Details of Disease

General Information of Disease (ID: DIS8YQKI)

Disease Name Tibial muscular dystrophy
Synonyms
tibial muscular dystrophy, tardive; Tmd; distal titinopathy; Finnish tibial muscular dystrophy; Udd myopathy; Udd type distal myopathy; TMD; distal myopathy, Udd type; tardive tibial muscular dystrophy
Definition A distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.
Disease Hierarchy
DISFMEP5: Autosomal dominant distal myopathy
DISDHBZ4: Autosomal dominant titinopathy
DIS8YQKI: Tibial muscular dystrophy
Disease Identifiers
MONDO ID
MONDO_0010870
MESH ID
D049310
UMLS CUI
C1838244
OMIM ID
600334
MedGen ID
333047
Orphanet ID
609

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CAPN3 OTCHG3YK Strong Genetic Variation [1]
CMYA5 OTYV0RME Strong Biomarker [2]
COL4A3 OT6SB8X5 Strong Biomarker [3]
TTN OT0LZ058 Strong Autosomal dominant [4]
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References

1 CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy.Hum Mol Genet. 2015 Jul 1;24(13):3718-31. doi: 10.1093/hmg/ddv116. Epub 2015 Apr 15.
2 Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies.J Biol Chem. 2010 Sep 24;285(39):30304-15. doi: 10.1074/jbc.M110.108720. Epub 2010 Jul 15.
3 Histopathology, ultrastructure, and clinical phenotypes in thin glomerular basement membrane disease variants.Hum Pathol. 2002 Aug;33(8):836-45. doi: 10.1053/hupa.2002.125374.
4 Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). Neuromuscul Disord. 2008 Dec;18(12):922-8. doi: 10.1016/j.nmd.2008.07.010. Epub 2008 Oct 22.