Details of Disease | DrugMAP

General Information of Disease (ID: DISY3B42)

Disease Name	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Synonyms	myopathy, mitochondrial, and ataxia; MMYAT; mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome
Disease Hierarchy	DIS9SA7V: Mitochondrial myopathy DISY3B42: Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Disease Identifiers	MONDO ID MONDO_0044714 UMLS CUI C4540096 OMIM ID 617675 MedGen ID 1620960 Orphanet ID 502423 SNOMED CT ID 1237514002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MSTO1	OT37XCNP	Strong	Autosomal recessive	[1]
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References

1	Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia. Hum Mutat. 2017 Aug;38(8):970-977. doi: 10.1002/humu.23262. Epub 2017 Jun 6.