MCID: MTC016
MIFTS: 36

Mitochondrial Neurogastrointestinal Encephalopathy Disease malady

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

Summaries for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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NIH Rare Diseases:41 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 ophthalmoplegia and mitochondrial disorders. An important gene associated with Mitochondrial Neurogastrointestinal Encephalopathy Disease is POLG (polymerase (DNA directed), gamma), and among its related pathways are Nucleotide Metabolism and Purine metabolism. 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:63 Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE), also called... more...

GeneReviews summary for mngie

Aliases & Classifications for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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Sources:
19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 26ICD10 via Orphanet
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Mitochondrial Neurogastrointestinal Encephalopathy Disease, Aliases & Descriptions:

Name: Mitochondrial Neurogastrointestinal Encephalopathy Disease 19 21
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome 19 41 20 21 60
Thymidine Phosphorylase Deficiency 19 41 21 60
Mitochondrial Neurogastrointestinal Encephalomyopathy 41 47 22
Myoneurogastrointestinal Encephalopathy Syndrome 19 41 21
Mngie Syndrome 19 41 21
Mngie 41 43 47
Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudo-Obstruction 41 21
 
Oculogastrointestinal Muscular Dystrophy 41 21
Ogimd 41 21
Polip 41 21
Mitochondrial Myopathy with Sensorimotor Polyneuropathy, Ophthalmoplegia, and Pseudo-Obstruction 21
Visceral Myopathy Familial External Ophthalmoplegia 60
Mngie Disease 21
Mepop 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
mitochondrial neurogastrointestinal encephalomyopathy:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: adult


External Ids:

Orphanet47 298
ICD10 via Orphanet26 G71.3

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
2 Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome22

Anatomical Context for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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MalaCards organs/tissues related to Mitochondrial Neurogastrointestinal Encephalopathy Disease:

31
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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.6POLG, RRM2B, 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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Clinvar genetic disease variations for Mitochondrial Neurogastrointestinal Encephalopathy Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1POLGNM_002693.2(POLG): c.2542G> A (p.Gly848Ser)single nucleotide variantPathogenicrs113994098GRCh37Chr 15, 89865023: 89865023
2POLGNM_002693.2(POLG): c.752C> T (p.Thr251Ile)single nucleotide variantPathogenicrs113994094GRCh37Chr 15, 89873415: 89873415
3POLGNM_002693.2(POLG): c.1760C> T (p.Pro587Leu)single nucleotide variantPathogenicrs113994096GRCh37Chr 15, 89868870: 89868870
4POLGNM_002693.2(POLG): c.2591A> G (p.Asn864Ser)single nucleotide variantPathogenicrs121918050GRCh37Chr 15, 89864974: 89864974
5POLGNM_002693.2(POLG): c.679C> T (p.Arg227Trp)single nucleotide variantPathogenicrs121918056GRCh37Chr 15, 89873488: 89873488
6POLGNM_002693.2(POLG): c.3218C> T (p.Pro1073Leu)single nucleotide variantPathogenicrs267606959GRCh37Chr 15, 89862217: 89862217
7RRM2BRRM2B, IVS3AS, A-G, -2single nucleotide variantPathogenic
8RRM2BRRM2B, 3-BP DEL, 253GAGdeletionPathogenic
9MT-TKm.8313G> Asingle nucleotide variantPathogenicrs118192101GRCh37Chr MT, 8313: 8313

Expression for genes affiliated with Mitochondrial Neurogastrointestinal Encephalopathy Disease

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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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Pathways related to Mitochondrial Neurogastrointestinal Encephalopathy Disease according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1POLG, RRM2B
2
Show member pathways
UTP and CTP dephosphorylation II36
ATP ITP metabolism58
purine deoxyribonucleosides salvage36
9.1RRM2B, TYMP
3
Show member pathways
purine deoxyribonucleosides degradation36
purine nucleotides degradation36
adenine and adenosine salvage II36
adenine and adenosine salvage III36
oxidized GTP and dGTP detoxification36
urate biosynthesis/inosine 5-phosphate degradation36
adenine and adenosine salvage I36
purine ribonucleosides degradation to ribose-1-phosphate36
inosine-5-phosphate biosynthesis36
guanosine nucleotides degradation36
guanine and guanosine salvage36
adenosine nucleotides degradation36
5-aminoimidazole ribonucleotide biosynthesis36
9.1RRM2B, TYMP
4
Show member pathways
8.6POLG, RRM2B, TYMP

Compounds for genes affiliated with Mitochondrial Neurogastrointestinal Encephalopathy Disease

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Compounds related to Mitochondrial Neurogastrointestinal Encephalopathy Disease according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1cidofovir43 1210.7POLG, TYMP
2dttp439.6POLG, TYMP
3deoxyguanosine43 2410.6POLG, TYMP
4zidovudine43 49 1211.5POLG, TYMP
5nucleoside439.4POLG, TYMP
6thymidylate439.3POLG, TYMP
7cisplatin43 49 59 1212.1RRM2B, TYMP
85fluorouracil438.8RRM2B, TYMP
9thymidine43 249.8TYMP, RRM2B, POLG
10oxygen43 249.7TYMP, RRM2B, POLG

GO Terms for genes affiliated with Mitochondrial Neurogastrointestinal Encephalopathy Disease

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Biological processes related to Mitochondrial Neurogastrointestinal Encephalopathy Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleobase-containing small molecule metabolic processGO:00550869.1RRM2B, TYMP
2mitochondrial DNA replicationGO:00062648.8POLG, RRM2B

Products for genes affiliated with Mitochondrial Neurogastrointestinal Encephalopathy Disease

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  • Antibodies
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Sources for Mitochondrial Neurogastrointestinal Encephalopathy Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet