Details of Disease | DrugMAP

General Information of Disease (ID: DIS9CBUI)

Disease Name	Mitochondrial DNA depletion syndrome, myopathic form
Synonyms	mitochondrial DNA depletion syndrome 2 (myopathic type); MTDPS2; mitochondrial DNA depletion myopathy, Tk2-related; mitochondrial DNA depletion syndrome 2; mtDNA depletion syndrome, myopathic form; mitochondrial DNA depletion syndrome type 2
Definition	Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.
Disease Hierarchy	DISIGZSM: Mitochondrial DNA depletion syndrome DIS2T2XO: Inborn disorder of pyrimidine metabolism DIS9CBUI: Mitochondrial DNA depletion syndrome, myopathic form
Disease Identifiers	MONDO ID MONDO_0012301 MESH ID C563698 UMLS CUI C3149750 OMIM ID 609560 MedGen ID 461100 Orphanet ID 254875 SNOMED CT ID 703527003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TK2	TT7KNZQ	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TK2	OTS1V4XB	Definitive	Autosomal recessive	[1]
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References

1	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.