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- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome abstract "Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is a rare autosomal recessive mitochondrial disease. It has been previously referred to as polyneuropathy, ophthalmoplegia, leukoencephalopathy, and POLIP syndrome. The disease presents in childhood, but often goes unnoticed for decades. Unlike typical mitochondrial diseases caused by mitochondrial DNA (mtDNA) mutations, MNGIE is caused by mutations in the TYMP gene, which encodes the enzyme thymidine phosphorylase. Mutations in this gene result in impaired mitochondrial function, leading to intestinal symptoms as well as neuro-ophthalmologic abnormalities. A secondary form of MNGIE, called MNGIE without leukoencephalopathy, can be caused by mutations in the POLG gene.".
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome icd9 "277.87".
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome omim "603041".
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome thumbnail PDB_1otp_EBI.jpg?width=300.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageID "8926781".
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageLength "8208".
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageOutDegree "23".
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageRevisionID "707521419".
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageWikiLink Category:Inborn_errors_of_purine-pyrimidine_metabolism.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageWikiLink Category:Mitochondrial_diseases.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageWikiLink Category:Rare_diseases.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageWikiLink Category:Syndromes.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageWikiLink Diverticulitis.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageWikiLink Diverticulum.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageWikiLink Electron_transport_chain.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageWikiLink Gastroparesis.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageWikiLink Leukoencephalopathy.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageWikiLink Myopathy.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageWikiLink Nucleoside.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageWikiLink Ophthalmoparesis.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageWikiLink Peripheral_neuropathy.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageWikiLink Peristalsis.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageWikiLink Polyneuropathy.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageWikiLink Progressive_multifocal_leukoencephalopathy.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageWikiLink Ptosis_(eyelid).
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageWikiLink Stomach_rumble.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageWikiLink Thymidine_phosphorylase.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageWikiLink File:PDB_1otp_EBI.jpg.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageWikiLinkText "Mitochondrial neurogastrointestinal encephalopathy syndrome".
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageWikiLinkText "POLIP syndrome".
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome diseasesdb "32948".
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome genereviewsname "Mitochondrial Neurogastrointestinal Encephalopathy Disease".
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome genereviewsnbk "NBK1179".
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome icd "277.87".
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome name "Mitochondrial neurogastrointestinal encephalopathy syndrome".
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome omim "603041".
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageUsesTemplate Template:Inborn_errors_of_purine-pyrimidine_metabolism.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageUsesTemplate Template:Infobox_disease.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageUsesTemplate Template:Mitochondrial_diseases.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wikiPageUsesTemplate Template:Reflist.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome subject Category:Autosomal_recessive_disorders.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome subject Category:Inborn_errors_of_purine-pyrimidine_metabolism.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome subject Category:Mitochondrial_diseases.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome subject Category:Rare_diseases.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome subject Category:Syndromes.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome hypernym Disease.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome type Disease.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome type Defect.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome type Disorder.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome type Error.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome type Syndrome.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome type Thing.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome type Q12136.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome comment "Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is a rare autosomal recessive mitochondrial disease. It has been previously referred to as polyneuropathy, ophthalmoplegia, leukoencephalopathy, and POLIP syndrome. The disease presents in childhood, but often goes unnoticed for decades. Unlike typical mitochondrial diseases caused by mitochondrial DNA (mtDNA) mutations, MNGIE is caused by mutations in the TYMP gene, which encodes the enzyme thymidine phosphorylase.".
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome label "Mitochondrial neurogastrointestinal encephalopathy syndrome".
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome sameAs Q6881876.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome sameAs Sxc3xadndrome_dencefalopatia_mitocondrial_neurogastrointestinal.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome sameAs Zespół_MNGIE.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome sameAs m.027pz_f.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome sameAs Q6881876.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome wasDerivedFrom Mitochondrial_neurogastrointestinal_encephalopathy_syndrome?oldid=707521419.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome depiction PDB_1otp_EBI.jpg.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome isPrimaryTopicOf Mitochondrial_neurogastrointestinal_encephalopathy_syndrome.
- Mitochondrial_neurogastrointestinal_encephalopathy_syndrome name "Mitochondrial neurogastrointestinal encephalopathy syndrome".