Details of Disease

General Information of Disease (ID: DISX4QF9)

Disease Name Myopathy, reducing body, X-linked, early-onset, severe
Synonyms
reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset; RBMX1A; reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, X-linked dominant; myopathy, reducing body, X-linked, early-onset, severe
Disease Hierarchy
DISFDWS0: Reducing body myopathy
DISBL9ZU: FHL1-related myopathy
DISX4QF9: Myopathy, reducing body, X-linked, early-onset, severe
Disease Identifiers
MONDO ID
MONDO_0010414
MESH ID
C567469
UMLS CUI
C4225423
OMIM ID
300717
MedGen ID
906731

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FHL1 TTI7ENL Strong X-linked [1]
FHL1 TTI7ENL Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FHL1 OTN535SU Strong X-linked [1]
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References

1 An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet. 2008 Jan;82(1):88-99. doi: 10.1016/j.ajhg.2007.09.004.
2 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.