Details of Disease

General Information of Disease (ID: DIS5EQO5)

Disease Name MYH7-related skeletal myopathy
Synonyms
myosin storage myopathy; myopathy, late distal hereditary; myopathy, distal, early-onset, autosomal dominant; myopathy, distal, 1; myopathy distal, type 1; distal myopathy type 1; MPD1; myopathy, distal, type 1; Laing early-onset distal myopathy; Gowers disease; Laing distal myopathy; MYH7-related skeletal myopathy
Definition Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.
Disease Hierarchy
DIS2BIP8: Congenital nervous system disorder
DISLSK9G: Congenital myopathy
DIS7F5R0: Distal myopathy
DISR8EC3: Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
DIS5EQO5: MYH7-related skeletal myopathy
Disease Identifiers
MONDO ID
MONDO_0008050
MESH ID
D049310
UMLS CUI
C4552004
OMIM ID
160500
MedGen ID
1647391
Orphanet ID
59135
SNOMED CT ID
764859001

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 Strong Genetic Variation [1]
MYH7 TTNIMDP Definitive Autosomal dominant [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MDP1 OTLUZISP Strong Biomarker [3]
TTN OT0LZ058 Strong Biomarker [4]
MYH7 OT4Z9T8N Definitive Autosomal dominant [2]
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References

1 MYH7 mutation associated with two phenotypes of myopathy.Neurol Sci. 2018 Feb;39(2):333-339. doi: 10.1007/s10072-017-3192-2. Epub 2017 Nov 24.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3 Inheritance and genetic mapping of the Campus syndrome (CPS): a high-frequency tremor disease in pigs.J Hered. 1999 Jul-Aug;90(4):472-6. doi: 10.1093/jhered/90.4.472.
4 Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.Am J Hum Genet. 2002 Sep;71(3):492-500. doi: 10.1086/342380. Epub 2002 Jul 26.