Details of Disease

General Information of Disease (ID: DISBYRCR)

Disease Name X-linked scapuloperoneal muscular dystrophy
Synonyms
SPM; scapuloperoneal myopathy, FHL1-related; scapuloperoneal myopathy, X-linked dominant; X-linked scapuloperoneal syndrome; scapuloperoneal myopathy, X-linked dominant, X-linked dominant; X-linked SPMD
Definition X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging.
Disease Hierarchy
DIS5AULW: Scapuloperoneal myopathy
DISBL9ZU: FHL1-related myopathy
DISBYRCR: X-linked scapuloperoneal muscular dystrophy
Disease Identifiers
MONDO ID
MONDO_0010400
MESH ID
C567481
UMLS CUI
C2678061
OMIM ID
300695
MedGen ID
395530
Orphanet ID
431272

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FHL1 TTI7ENL Limited Biomarker [1]
FHL1 TTI7ENL Supportive X-linked [2]
CASP6 TTKW4ML Strong Genetic Variation [3]
MC1R TT0MV2T Strong Genetic Variation [4]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FHL1 OTN535SU Supportive X-linked [2]
CRTAP OT53H5U6 Strong Genetic Variation [3]
CYTIP OTRJ3ZC5 Strong Genetic Variation [3]
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References

1 Four and a half LIM domain protein signaling and cardiomyopathy.Biophys Rev. 2018 Aug;10(4):1073-1085. doi: 10.1007/s12551-018-0434-3. Epub 2018 Jun 20.
2 X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. Am J Hum Genet. 2008 Jan;82(1):208-13. doi: 10.1016/j.ajhg.2007.09.013.
3 A functional variant at the miR-885-5p binding site of CASP3 confers risk of both index and second primary malignancies in patients with head and neck cancer.FASEB J. 2013 Apr;27(4):1404-12. doi: 10.1096/fj.12-223420. Epub 2012 Dec 27.
4 MC1R genotype may modify the effect of sun exposure on melanoma risk in the GEM study.Cancer Causes Control. 2010 Dec;21(12):2137-47. doi: 10.1007/s10552-010-9633-3. Epub 2010 Aug 19.