MEPOP
MCID: MTC016
MIFTS: 17

Mitochondrial Neurogastrointestinal Encephalopathy Disease (MEPOP) malady

Gastrointestinal, Neuronal, Muscle, Genetic categories

Summaries for Mitochondrial Neurogastrointestinal Encephalopathy Disease

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 familial visceral myopathy with external ophthalmoplegia and mitochondrial dna depletion syndrome 1. An important gene associated with Mitochondrial Neurogastrointestinal Encephalopathy Disease is TYMP (thymidine phosphorylase). Affiliated tissues include brain.

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

GeneReviews summary for mngie

Aliases & Classifications for Mitochondrial Neurogastrointestinal Encephalopathy Disease

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 45Novoseek, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Gastrointestinal, Neuronal, Muscle


Aliases & Descriptions:

mitochondrial neurogastrointestinal encephalopathy disease 19 21
mitochondrial neurogastrointestinal encephalopathy syndrome 19 43 20 21 61
myoneurogastrointestinal encephalopathy syndrome 19 43 21
mngie syndrome 19 43 21
oculogastrointestinal muscular dystrophy 43 21
thymidine phosphorylase deficiency 19 21
ogimd 43 21
mngie 43 45
mitochondrial myopathy with sensorimotor polyneuropathy, ophthalmoplegia, and pseudo-obstruction 21
polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction 21
visceral myopathy familial external ophthalmoplegia 61
mngie disease 21
polip 21
mepop 21


Related Diseases for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Mitochondrial Neurogastrointestinal Encephalopathy Disease:



Diseases related to mitochondrial neurogastrointestinal encephalopathy disease

Clinical Features for Mitochondrial Neurogastrointestinal Encephalopathy Disease

Drugs & Therapeutics for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Genetic Tests for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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20GeneTests
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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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33MalaCards
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MalaCards organs/tissues related to Mitochondrial Neurogastrointestinal Encephalopathy Disease:

33
Brain

Animal Models for Mitochondrial Neurogastrointestinal Encephalopathy Disease or affiliated genes

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28inGenious Targeting Laboratory
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Publications for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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51PubMed
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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

Genetic Variations for Mitochondrial Neurogastrointestinal Encephalopathy Disease

Expression for genes affiliated with Mitochondrial Neurogastrointestinal Encephalopathy Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Mitochondrial Neurogastrointestinal Encephalopathy Disease

GO Terms for genes affiliated with Mitochondrial Neurogastrointestinal Encephalopathy Disease

Products for genes affiliated with Mitochondrial Neurogastrointestinal Encephalopathy Disease

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Sources for Mitochondrial Neurogastrointestinal Encephalopathy Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet