Details of Disease | DrugMAP

General Information of Disease (ID: DIS5HV4H)

Disease Name	Mitochondrial neurogastrointestinal encephalomyopathy
Synonyms	thymidine phosphorylase deficiency; OGIMD; POLIP; mitochondrial neurogastrointestinal encephalopathy syndrome; polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction; myoneurogastrointestinal encephalopathy syndrome; MNGIE syndrome; oculogastrointestinal muscular dystrophy; mitochondrial Neurogastrointestingal encephalopathy; MNGIE; Mitochondrial neurogastrointestinal encephalopathy; Mitochondrial Neurogastrointestinal Encephalopathy
Definition	A syndrome characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.
Disease Hierarchy	DISSYRHC: Hereditary peripheral neuropathy DIS9SA7V: Mitochondrial myopathy DIS6SVEE: Syndromic disease DIS2BIP8: Congenital nervous system disorder DIS2T2XO: Inborn disorder of pyrimidine metabolism DIS5HV4H: Mitochondrial neurogastrointestinal encephalomyopathy
Disease Identifiers	MONDO ID MONDO_0017575 MESH ID C536350 UMLS CUI C0872218 MedGen ID 167876 Orphanet ID 298 SNOMED CT ID 718214007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TYMP	OT6BQTMR	Supportive	Autosomal recessive	[1]
POLG	OTDUCT04	Supportive	Autosomal recessive	[3]
RRM2B	OTE8GBUR	Supportive	Autosomal recessive	[4]
SCO2	OTJQQDRS	Strong	Genetic Variation	[5]
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This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TYMP	TTO0IB8	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
TYMP	DE4HCYL	Supportive	Autosomal recessive	[1]
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References

1	Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. Brain. 2011 Nov;134(Pt 11):3326-32. doi: 10.1093/brain/awr245. Epub 2011 Sep 20.
2	Mitochondrial neurogastrointestinal encephalopathy: a clinicopathological mimic of Crohn's disease.BMC Gastroenterol. 2019 Jan 15;19(1):11. doi: 10.1186/s12876-018-0925-5.
3	Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. Eur J Hum Genet. 2003 Jul;11(7):547-9. doi: 10.1038/sj.ejhg.5201002.
4	Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurol. 2009 Aug;66(8):1028-32. doi: 10.1001/archneurol.2009.139.
5	Anesthetic Considerations for Liver Transplantation in a Patient with Mitochondrial Neurogastrointestinal Encephalopathy Syndrome.Cureus. 2019 Jun 29;11(6):e5038. doi: 10.7759/cureus.5038.