MEPOP
MCID: MTC016
MIFTS: 30

Mitochondrial Neurogastrointestinal Encephalopathy Disease (MEPOP) malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Neuronal diseases, Muscle diseases categories
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Summaries for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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NIH Rare Diseases:42 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: 9/24/2014

MalaCards based summary: 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:21 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:65 Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE), also called... more...

GeneReviews summary for mngie

Aliases & Classifications for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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Mitochondrial Neurogastrointestinal Encephalopathy Disease, Aliases & Descriptions:

Name: Mitochondrial Neurogastrointestinal Encephalopathy Disease 19 21 62
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome 19 42 20 21 62
Thymidine Phosphorylase Deficiency 19 42 21 62
Myoneurogastrointestinal Encephalopathy Syndrome 19 42 21
Oculogastrointestinal Muscular Dystrophy 42 21 62
Mngie Syndrome 19 42 21
Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudo-Obstruction 42 21
 
Ogimd 42 21
Mngie 42 44
Polip 42 21
Mitochondrial Myopathy with Sensorimotor Polyneuropathy, Ophthalmoplegia, and Pseudo-Obstruction 21
Mngie Disease 21
Mepop 21


Classifications:



Related Diseases for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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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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Drug clinical trials:

Search ClinicalTrials for Mitochondrial Neurogastrointestinal Encephalopathy Disease

Search NIH Clinical Center for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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 Disease20 TYMP

Anatomical Context for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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MalaCards organs/tissues related to Mitochondrial Neurogastrointestinal Encephalopathy Disease:

32
Eye, Brain

Animal Models for Mitochondrial Neurogastrointestinal Encephalopathy Disease or affiliated genes

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MGI Mouse Phenotypes related to Mitochondrial Neurogastrointestinal Encephalopathy Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053909.1POLG, TYMP

Publications for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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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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Expression patterns in normal tissues for genes affiliated with Mitochondrial Neurogastrointestinal Encephalopathy Disease

Search GEO for disease gene expression data for Mitochondrial Neurogastrointestinal Encephalopathy Disease.

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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Sources:
44Novoseek, 11DrugBank, 24HMDB, 50PharmGKB, 28IUPHAR
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Compounds related to Mitochondrial Neurogastrointestinal Encephalopathy Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1cidofovir44 1110.3POLG, TYMP
2dttp449.3POLG, TYMP
3deoxyguanosine44 2410.3POLG, TYMP
4zidovudine44 50 1111.2POLG, TYMP
5nucleoside449.2TYMP, POLG
6thymidylate449.1POLG, TYMP
7atp44 2810.1POLG, TYMP
8thymidine44 2410.0POLG, TYMP
9oxygen44 249.8POLG, 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

Sources for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet