Details of Disease | DrugMAP

General Information of Disease (ID: DIS1AFQH)

Disease Name	X-linked myopathy with excessive autophagy
Synonyms	MEAX; myopathy, X-linked, with excessive autophagy; vacuolar myopathy; XMEA; myopathy, X-linked, with excessive autophagy, X-linked recessive
Definition	X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterized by slow progression of muscle weakness and unique histopathological findings.
Disease Hierarchy	DISV66YX: Progressive muscular dystrophy DISDUT8O: Hereditary inclusion-body myopathy DIS1AFQH: X-linked myopathy with excessive autophagy
Disease Identifiers	MONDO ID MONDO_0010684 UMLS CUI C1839615 OMIM ID 310440 MedGen ID 374264 Orphanet ID 25980 SNOMED CT ID 719815005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VMA21	OTAXFAA2	Strong	X-linked	[1]
ACTA1	OTOVGLPG	Limited	Genetic Variation	[6]
DNAJB6	OTMHIIAN	Limited	Genetic Variation	[7]
TRIM32	OTJOV0PG	Limited	Genetic Variation	[8]
CASQ1	OTAY8WOO	Strong	Genetic Variation	[9]
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This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CLN3	TTORF9W	Limited	Biomarker	[2]
LAMP2	TTULDG7	Limited	Biomarker	[3]
PYGM	TTZHY6R	Limited	Biomarker	[4]
GNE	TT4DP5S	Strong	Genetic Variation	[5]
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References

1	A new congenital form of X-linked autophagic vacuolar myopathy. Neurology. 2005 Oct 11;65(7):1132-4. doi: 10.1212/01.wnl.0000178979.19887.f5.
2	Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report.Neuromuscul Disord. 2019 Jan;29(1):67-69. doi: 10.1016/j.nmd.2018.11.006. Epub 2018 Nov 22.
3	Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease.Neuromuscul Disord. 2016 Dec;26(12):890-894. doi: 10.1016/j.nmd.2016.09.025. Epub 2016 Oct 5.
4	Single-centre experience on genotypic and phenotypic features of southern Brazilian patients with McArdle disease.Acta Neurol Belg. 2020 Apr;120(2):303-311. doi: 10.1007/s13760-018-1038-1. Epub 2018 Nov 10.
5	Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles.J Hum Genet. 2011 Apr;56(4):335-8. doi: 10.1038/jhg.2011.15. Epub 2011 Feb 10.
6	ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles.Neuromuscul Disord. 2019 May;29(5):388-391. doi: 10.1016/j.nmd.2019.02.012. Epub 2019 Mar 2.
7	DNAJB6 myopathy: a vacuolar myopathy with childhood onset.Muscle Nerve. 2014 Apr;49(4):607-10. doi: 10.1002/mus.24106. Epub 2014 Feb 24.
8	Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite.Neuromuscul Disord. 2013 Feb;23(2):133-8. doi: 10.1016/j.nmd.2012.09.010. Epub 2012 Nov 9.
9	A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates. Hum Mutat. 2014 Oct;35(10):1163-70. doi: 10.1002/humu.22631. Epub 2014 Sep 10.