Details of Disease | DrugMAP

General Information of Disease (ID: DISUV37B)

Disease Name	Congenital myopathy 7A, myosin storage, autosomal dominant
Synonyms	scapuloperoneal myopathy, MYH7-related; myopathy with lysis of type 1 myofibrils; MYH7-related scapuloperoneal myopathy; SPMD; scapuloperoneal muscular dystrophy; SPMM; myopathy, hyaline body, autosomal dominant; MYH7-related late-onset scapuloperoneal muscular dystrophy; MSMA; myopathy, myosin storage, autosomal dominant; scapuloperoneal syndrome, myopathic type; autosomal dominant myosin storage myopathy; MYH7-related late-onset SPMD; MYH7-related late-onset scapuloperoneal syndrome
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DIS5AULW: Scapuloperoneal myopathy DISLSK9G: Congenital myopathy DISR8EC3: Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) DISUV37B: Congenital myopathy 7A, myosin storage, autosomal dominant
Disease Identifiers	MONDO ID MONDO_0008409 MESH ID C564253 UMLS CUI C1842160 MedGen ID 374868 SNOMED CT ID 699267007

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
MYH7	TTNIMDP	Supportive	Autosomal dominant	[1]
MYH7	TTNIMDP	Strong	Genetic Variation	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SELENON	OTSGKO5M	Limited	Genetic Variation	[3]
TPM2	OTA1L0P8	Limited	Genetic Variation	[3]
MYH7	OT4Z9T8N	Supportive	Autosomal dominant	[1]
MYH14	OT1TZEJK	Strong	Altered Expression	[4]
TRIM54	OTI49DD6	Strong	Genetic Variation	[5]
TRIM63	OTUSWA74	Strong	Genetic Variation	[5]
------------------------------------------------------------------------------------


⏷ Show the Full List of 6 DOT(s)

References

1	MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. Neuromuscul Disord. 2007 Apr;17(4):321-9. doi: 10.1016/j.nmd.2007.01.010. Epub 2007 Mar 2.
2	A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report.BMC Med Genet. 2019 May 8;20(1):78. doi: 10.1186/s12881-019-0804-0.
3	Congenital myopathies.Curr Opin Neurol. 2007 Oct;20(5):583-9. doi: 10.1097/WCO.0b013e3282ef6e69.
4	Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells.PLoS One. 2017 Jan 26;12(1):e0170613. doi: 10.1371/journal.pone.0170613. eCollection 2017.
5	New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.Hum Mol Genet. 2015 Jul 1;24(13):3638-50. doi: 10.1093/hmg/ddv108. Epub 2015 Mar 23.