MEPOP
MCID: MTC016
MIFTS: 30

Mitochondrial Neurogastrointestinal Encephalopathy Disease (MEPOP) malady

Genetic diseases, Rare diseases, Neuronal diseases, Gastrointestinal diseases, Muscle diseases categories

Summaries for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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44NIH Rare Diseases, 22Genetics Home Reference, 66Wikipedia, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Mitochondrial neurogastrointestinal encephalopathy (mngie) syndrome is a condition that particularly affects the digestive system and nervous system. signs and symptoms of this condition most often begin by age 20 and worsen with time. almost all people with mngie have gastrointestinal dysmotility, in which the muscles and nerves of the digestive system do not move food through the digestive tract efficiently. affected individuals also experience peripheral neuropathy, droopy eyelids (ptosis), weakness of the muscles that control eye movement (ophthalmoplegia), and hearing loss. leukoencephalopathy, which is the deterioration of a type of brain tissue known as white matter, is a hallmark of mngie; however it does not usually cause symptoms in people with this disorder. mutations in the tymp gene cause mngie, and this condition is inherited in an autosomal recessive pattern. last updated: 12/22/2009

MalaCards: Mitochondrial Neurogastrointestinal Encephalopathy Disease, also known as mitochondrial neurogastrointestinal encephalopathy syndrome, is related to mitochondrial disorders and encephalomyopathy. An important gene associated with Mitochondrial Neurogastrointestinal Encephalopathy Disease is TYMP (thymidine phosphorylase). The compounds cidofovir and dttp have been mentioned in the context of this disorder. Affiliated tissues include eye and brain, and related mouse phenotype skeleton.

Genetics Home Reference:22 Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a condition that affects several parts of the body, particularly the digestive system and nervous system. The major features of MNGIE disease can appear anytime from infancy to adulthood, but signs and symptoms most often begin by age 20. The medical problems associated with this disorder worsen with time.

Wikipedia:66 Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE), also called... more...

GeneReviews summary for mngie

Aliases & Classifications for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 22Genetics Home Reference, 46Novoseek, 63UMLS
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Classifications:



Aliases & Descriptions:

mitochondrial neurogastrointestinal encephalopathy disease 20 22
mitochondrial neurogastrointestinal encephalopathy syndrome 20 44 21 22 63
myoneurogastrointestinal encephalopathy syndrome 20 44 22
thymidine phosphorylase deficiency 20 44 22
mngie syndrome 20 44 22
polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction 44 22
oculogastrointestinal muscular dystrophy 44 22
polip 44 22
mngie 44 46
ogimd 44 22
mitochondrial myopathy with sensorimotor polyneuropathy, ophthalmoplegia, and pseudo-obstruction 22
visceral myopathy familial external ophthalmoplegia 63
mngie disease 22
mepop 22


Related Diseases for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Mitochondrial Neurogastrointestinal Encephalopathy Disease:



Diseases related to mitochondrial neurogastrointestinal encephalopathy disease

Symptoms for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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Drugs & Therapeutics for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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Genetic tests related to Mitochondrial Neurogastrointestinal Encephalopathy Disease:

id Genetic test Affiliating Genes
1 Mitochondrial Neurogastrointestinal Encephalopathy Disease21 TYMP

Anatomical Context for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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MalaCards organs/tissues related to Mitochondrial Neurogastrointestinal Encephalopathy Disease:

34
Eye, Brain

Animal Models for Mitochondrial Neurogastrointestinal Encephalopathy Disease or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Mitochondrial Neurogastrointestinal Encephalopathy Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053909.1POLG, TYMP

Publications for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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53PubMed
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Articles related to Mitochondrial Neurogastrointestinal Encephalopathy Disease:

idTitleAuthorsYear
1
Diagnosis of mitochondrial neurogastrointestinal encephalopathy disease in gastrointestinal biopsies. (23453626)
2013
2
Mitochondrial Neurogastrointestinal Encephalopathy Disease (20301358)
1993

Variations for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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Expression for genes affiliated with Mitochondrial Neurogastrointestinal Encephalopathy Disease

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mitochondrial Neurogastrointestinal Encephalopathy Disease

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Pathways for genes affiliated with Mitochondrial Neurogastrointestinal Encephalopathy Disease

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Compounds for genes affiliated with Mitochondrial Neurogastrointestinal Encephalopathy Disease

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46Novoseek, 12DrugBank, 25HMDB, 52PharmGKB, 30IUPHAR
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Compounds related to Mitochondrial Neurogastrointestinal Encephalopathy Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cidofovir46 1210.3POLG, TYMP
2dttp469.3POLG, TYMP
3deoxyguanosine46 2510.3POLG, TYMP
4zidovudine46 52 1211.2POLG, TYMP
5nucleoside469.2TYMP, POLG
6thymidylate469.1POLG, TYMP
7atp46 3010.1POLG, TYMP
8thymidine46 2510.0POLG, TYMP
9oxygen46 259.8POLG, TYMP

GO Terms for genes affiliated with Mitochondrial Neurogastrointestinal Encephalopathy Disease

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Products for genes affiliated with Mitochondrial Neurogastrointestinal Encephalopathy Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet