MNGIE
MCID: MTC111
MIFTS: 41

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

Categories: Eye diseases, Fetal diseases, Gastrointestinal diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mitochondrial Neurogastrointestinal Encephalomyopathy

MalaCards integrated aliases for Mitochondrial Neurogastrointestinal Encephalomyopathy:

Name: Mitochondrial Neurogastrointestinal Encephalomyopathy 59 37 6
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome 73
Mngie 59

Characteristics:

Orphanet epidemiological data:

59
mitochondrial neurogastrointestinal encephalomyopathy
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

Classifications:



Summaries for Mitochondrial Neurogastrointestinal Encephalomyopathy

MalaCards based summary : Mitochondrial Neurogastrointestinal Encephalomyopathy, also known as mitochondrial neurogastrointestinal encephalopathy syndrome, is related to mitochondrial neurogastrointestinal encephalopathy disease and mitochondrial dna depletion syndrome 1, and has symptoms including vomiting, abdominal pain and intermittent diarrhea. An important gene associated with Mitochondrial Neurogastrointestinal Encephalomyopathy is TYMP (Thymidine Phosphorylase), and among its related pathways/superpathways are Pyrimidine metabolism and Purine metabolism (REACTOME). Affiliated tissues include eye, bone and small intestine, and related phenotypes are ptosis and intellectual disability

Related Diseases for Mitochondrial Neurogastrointestinal Encephalomyopathy

Diseases related to Mitochondrial Neurogastrointestinal Encephalomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 mitochondrial neurogastrointestinal encephalopathy disease 33.4 POLG TYMP
2 mitochondrial dna depletion syndrome 1 31.4 MT-TK POLG SCO2 TYMP
3 chronic progressive external ophthalmoplegia 30.1 POLG RRM2B TYMP
4 mitochondrial dna depletion syndrome 8a 11.7
5 mitochondrial dna depletion syndrome 4b 11.4
6 anorexia nervosa 10.4
7 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
8 hypogonadism 10.4
9 intestinal pseudo-obstruction 10.4
10 trigeminal neuralgia 10.2
11 celiac disease 1 10.2
12 crohn's disease 10.2
13 endocarditis 10.2
14 polyradiculoneuropathy 10.2
15 chronic inflammatory demyelinating polyradiculoneuropathy 10.2
16 diverticulitis 10.2
17 eating disorder 10.2
18 brainstem auditory evoked responses 10.2
19 refractory celiac disease 10.2
20 neuropathy 10.1
21 paralytic ileus 10.1
22 encephalopathy 10.1
23 mitochondrial dna depletion syndrome 10.0 POLG RRM2B
24 mitochondrial dna depletion syndrome 4a 10.0 POLG TYMP
25 3-methylglutaconic aciduria, type v 10.0 POLG TYMP
26 ocular motility disease 10.0 POLG TYMP
27 cardioencephalomyopathy 10.0 SCO2 TYMP
28 autosomal dominant progressive external ophthalmoplegia 9.9 POLG RRM2B
29 mitochondrial myopathy 9.9
30 3-methylglutaconic aciduria, type iii 9.9
31 chronic inflammatory demyelinating polyneuropathy 9.9
32 liver cirrhosis 9.9
33 polyneuropathy 9.9
34 myopathy 9.9
35 demyelinating polyneuropathy 9.9
36 peripheral nervous system disease 9.9
37 mitochondrial disorders 9.9
38 kearns-sayre syndrome 9.8 POLG RRM2B TYMP
39 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.8 POLG TYMP
40 ptosis 9.8 POLG RRM2B TYMP
41 myoclonic epilepsy associated with ragged-red fibers 9.8 MT-TK POLG
42 mitochondrial metabolism disease 9.6 POLG RRM2B SCO2 TYMP
43 leigh syndrome 9.6 MT-TK POLG SCO2

Graphical network of the top 20 diseases related to Mitochondrial Neurogastrointestinal Encephalomyopathy:



Diseases related to Mitochondrial Neurogastrointestinal Encephalomyopathy

Symptoms & Phenotypes for Mitochondrial Neurogastrointestinal Encephalomyopathy

Human phenotypes related to Mitochondrial Neurogastrointestinal Encephalomyopathy:

59 32 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
2 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
3 dysphagia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002015
4 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
5 gastroesophageal reflux 59 32 hallmark (90%) Very frequent (99-80%) HP:0002020
6 vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002013
7 decreased muscle mass 59 32 occasional (7.5%) Occasional (29-5%) HP:0003199
8 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
9 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
10 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
11 decreased motor nerve conduction velocity 59 32 frequent (33%) Frequent (79-30%) HP:0003431
12 hypogonadotrophic hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000044
13 lactic acidosis 59 32 frequent (33%) Frequent (79-30%) HP:0003128
14 ragged-red muscle fibers 59 32 frequent (33%) Frequent (79-30%) HP:0003200
15 paresthesia 59 32 frequent (33%) Frequent (79-30%) HP:0003401
16 cachexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004326
17 easy fatigability 59 32 frequent (33%) Frequent (79-30%) HP:0003388
18 hypergonadotropic hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000815
19 dementia 59 32 very rare (1%) Very rare (<4-1%) HP:0000726
20 diarrhea 59 32 frequent (33%) Frequent (79-30%) HP:0002014
21 abnormality of the hand 59 32 frequent (33%) Frequent (79-30%) HP:0001155
22 abdominal distention 59 32 hallmark (90%) Very frequent (99-80%) HP:0003270
23 sensorimotor neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0007141
24 foot dorsiflexor weakness 59 32 frequent (33%) Frequent (79-30%) HP:0009027
25 external ophthalmoplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000544
26 peripheral axonal neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0003477
27 distal muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0002460
28 abnormality of the mitochondrion 59 32 frequent (33%) Frequent (79-30%) HP:0012103
29 increased csf protein 59 32 frequent (33%) Frequent (79-30%) HP:0002922
30 demyelinating peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007108
31 nausea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002018
32 poor appetite 59 32 hallmark (90%) Very frequent (99-80%) HP:0004396
33 hyperalaninemia 59 32 frequent (33%) Frequent (79-30%) HP:0003348
34 abnormality of the cerebral white matter 59 32 frequent (33%) Frequent (79-30%) HP:0002500
35 macrovesicular hepatic steatosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001403
36 abnormal cell morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0025461
37 decreased sensory nerve conduction velocity 59 32 frequent (33%) Frequent (79-30%) HP:0003448
38 leukoencephalopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002352
39 small intestinal dysmotility 59 32 hallmark (90%) Very frequent (99-80%) HP:0012850
40 atrophic muscularis propria 59 32 hallmark (90%) Very frequent (99-80%) HP:0025149
41 decreased number of large peripheral myelinated nerve fibers 59 32 frequent (33%) Frequent (79-30%) HP:0003387
42 abnormality of the extraocular muscles 59 32 frequent (33%) Frequent (79-30%) HP:0008049
43 weight loss 59 Frequent (79-30%)
44 peripheral neuropathy 59 Frequent (79-30%)
45 elevated hepatic transaminases 59 Frequent (79-30%)
46 ophthalmoparesis 59 Frequent (79-30%)
47 abnormality of the gastrointestinal tract 59 Frequent (79-30%)
48 gastrointestinal dysmotility 59 Very frequent (99-80%)
49 elevated hepatic transaminase 32 frequent (33%) HP:0002910

UMLS symptoms related to Mitochondrial Neurogastrointestinal Encephalomyopathy:


vomiting, abdominal pain, intermittent diarrhea, chronic constipation

Drugs & Therapeutics for Mitochondrial Neurogastrointestinal Encephalomyopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 MNGIE Allogeneic Hematopoietic Stem Cell Transplant Safety Study Recruiting NCT02427178 Phase 1

Search NIH Clinical Center for Mitochondrial Neurogastrointestinal Encephalomyopathy

Genetic Tests for Mitochondrial Neurogastrointestinal Encephalomyopathy

Anatomical Context for Mitochondrial Neurogastrointestinal Encephalomyopathy

MalaCards organs/tissues related to Mitochondrial Neurogastrointestinal Encephalomyopathy:

41
Eye, Bone, Small Intestine, Liver, Brain, Bone Marrow

Publications for Mitochondrial Neurogastrointestinal Encephalomyopathy

Articles related to Mitochondrial Neurogastrointestinal Encephalomyopathy:

(show top 50) (show all 96)
# Title Authors Year
1
A mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation. ( 30407211 )
2019
2
Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy. ( 29284302 )
2018
3
Mitochondrial neurogastrointestinal encephalomyopathy imitating Crohn's disease: a rare cause of malnutrition. ( 30240477 )
2018
4
Mitochondrial Neurogastrointestinal Encephalomyopathy: A Nonrenal Indication for Peritoneal Dialysis. ( 30158752 )
2018
5
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1). ( 30373120 )
2018
6
Leukoencephalopathy with a case of heterozygous POLG mutation mimicking mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). ( 30385167 )
2018
7
Mitochondrial Neurogastrointestinal Encephalomyopathy in the Differential Diagnosis of Eating Disorders. ( 28935389 )
2017
8
Transient clinical improvement of a mitochondrial neurogastrointestinal encephalomyopathy-like syndrome after allogeneic haematopoietic stem cell transplantation. ( 28765176 )
2017
9
Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options. ( 28261062 )
2017
10
Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome with an Unusual Pattern of Inheritance. ( 28904474 )
2017
11
Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome Treated with Stem Cell Transplant: A Case Series and Literature Review. ( 28411356 )
2017
12
Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy. ( 28263873 )
2017
13
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) mimicking refractory celiac disease. ( 28539227 )
2017
14
Pearls &amp;amp; Oy-sters: Mitochondrial neurogastrointestinal encephalomyopathy: Diagnosis and response to peritoneal dialysis. ( 27044617 )
2016
15
Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy. ( 27004974 )
2016
16
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy. ( 27421916 )
2016
17
Mitochondrial Neurogastrointestinal Encephalomyopathy Presenting as Anorexia Nervosa. ( 27743770 )
2016
18
A celiac case mimicking mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). ( 29090882 )
2016
19
Mitochondrial Neurogastrointestinal Encephalomyopathy Treated with Stem Cell Transplantation: A Case Report and Review of Literature. ( 25585305 )
2015
20
Spontaneous abdominal esophageal perforation in a patient with mitochondrial neurogastrointestinal encephalomyopathy. ( 25649531 )
2015
21
Eye movement changes in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). ( 25656101 )
2015
22
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy. ( 26264513 )
2015
23
MicroRNA expression profile of a Malaysian Bajau family with familial mitochondrial neurogastrointestinal encephalomyopathy. ( 26535630 )
2015
24
Liver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathy. ( 24802030 )
2014
25
Correction: liver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathy. ( 25285923 )
2014
26
Diagnosis of mitochondrial neurogastrointestinal encephalomyopathy: proposal of a clinical algorithm. ( 24726585 )
2014
27
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation. ( 25022940 )
2014
28
Endocarditis in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) Syndrome: The First in the Literature. ( 25478431 )
2014
29
Thymidine phosphorylase is both a therapeutic and a suicide gene in a murine model of mitochondrial neurogastrointestinal encephalomyopathy. ( 24807807 )
2014
30
Mitochondrial neurogastrointestinal encephalomyopathy treated with peritoneal dialysis and bone marrow transplantation. ( 24599829 )
2014
31
Mitochondrial neurogastrointestinal encephalomyopathy: imaging and clinical findings in three patients. ( 23302282 )
2013
32
Possible toxicity of tuberculostatic agents in a patient with a novel TYMP mutation leading to mitochondrial neurogastrointestinal encephalomyopathy. ( 23590577 )
2013
33
Preclinical toxicity evaluation of erythrocyte-encapsulated thymidine phosphorylase in BALB/c mice and beagle dogs: an enzyme-replacement therapy for mitochondrial neurogastrointestinal encephalomyopathy. ( 22977166 )
2013
34
Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). ( 23685548 )
2013
35
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy. ( 24199812 )
2013
36
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy. ( 22711161 )
2012
37
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. ( 21993618 )
2012
38
Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis. ( 23341816 )
2012
39
A novel finding in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy): hypergonadotropic hypogonadism. ( 22908072 )
2012
40
A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy. ( 21667329 )
2012
41
Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers. ( 22618301 )
2012
42
Mitochondrial neurogastrointestinal encephalomyopathy mimicking chronic inflammatory demyelinating polyradiculoneuropathy. ( 22286402 )
2012
43
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. ( 21933806 )
2011
44
Evaluation of gastrointestinal mtDNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). ( 21761307 )
2011
45
Tachyduodenia in mitochondrial neurogastrointestinal encephalomyopathy. ( 21481099 )
2011
46
Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). ( 21483760 )
2011
47
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy. ( 21503690 )
2011
48
Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach. ( 20436523 )
2011
49
Multiple cranial nerve enhancement in mitochondrial neurogastrointestinal encephalomyopathy. ( 20351514 )
2010
50
Emergency surgery in chronic intestinal pseudo-obstruction due to mitochondrial neurogastrointestinal encephalomyopathy: case reports. ( 21143863 )
2010

Variations for Mitochondrial Neurogastrointestinal Encephalomyopathy

ClinVar genetic disease variations for Mitochondrial Neurogastrointestinal Encephalomyopathy:

6 (show top 50) (show all 258)
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-TK m.8313G> A single nucleotide variant Pathogenic rs118192101 GRCh37 Chromosome MT, 8313: 8313
2 MT-TK m.8313G> A single nucleotide variant Pathogenic rs118192101 GRCh38 Chromosome MT, 8313: 8313
3 POLG NM_002693.2(POLG): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994095 GRCh37 Chromosome 15, 89870432: 89870432
4 POLG NM_002693.2(POLG): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994095 GRCh38 Chromosome 15, 89327201: 89327201
5 POLG NM_002693.2(POLG): c.2542G> A (p.Gly848Ser) single nucleotide variant Pathogenic rs113994098 GRCh37 Chromosome 15, 89865023: 89865023
6 POLG NM_002693.2(POLG): c.2542G> A (p.Gly848Ser) single nucleotide variant Pathogenic rs113994098 GRCh38 Chromosome 15, 89321792: 89321792
7 POLG NM_002693.2(POLG): c.752C> T (p.Thr251Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs113994094 GRCh37 Chromosome 15, 89873415: 89873415
8 POLG NM_002693.2(POLG): c.752C> T (p.Thr251Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs113994094 GRCh38 Chromosome 15, 89330184: 89330184
9 POLG NM_002693.2(POLG): c.1760C> T (p.Pro587Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs113994096 GRCh37 Chromosome 15, 89868870: 89868870
10 POLG NM_002693.2(POLG): c.1760C> T (p.Pro587Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs113994096 GRCh38 Chromosome 15, 89325639: 89325639
11 TYMP NM_001953.3(TYMP): c.866A> C single nucleotide variant Pathogenic rs121913036 GRCh37 Chromosome 22, 50965067: 50965067
12 TYMP NM_001953.3(TYMP): c.866A> C single nucleotide variant Pathogenic rs121913036 GRCh38 Chromosome 22, 50526638: 50526638
13 TYMP NM_001257988.1(TYMP): c.418_516del single nucleotide variant Pathogenic rs797044454 GRCh38 Chromosome 22, 50528510: 50528510
14 TYMP NM_001257988.1(TYMP): c.418_516del single nucleotide variant Pathogenic rs797044454 GRCh37 Chromosome 22, 50966939: 50966939
15 TYMP NM_001113755.2(TYMP): c.433G> A (p.Gly145Arg) single nucleotide variant Pathogenic rs121913037 GRCh37 Chromosome 22, 50967024: 50967024
16 TYMP NM_001113755.2(TYMP): c.433G> A (p.Gly145Arg) single nucleotide variant Pathogenic rs121913037 GRCh38 Chromosome 22, 50528595: 50528595
17 TYMP NM_001953.3(TYMP): c.665A> G single nucleotide variant Likely pathogenic rs149977726 GRCh37 Chromosome 22, 50965694: 50965694
18 TYMP NM_001953.3(TYMP): c.665A> G single nucleotide variant Likely pathogenic rs149977726 GRCh38 Chromosome 22, 50527265: 50527265
19 TYMP NM_001257988.1(TYMP): c.1410dupC (p.Ser471Leufs) duplication Pathogenic rs786205097 GRCh37 Chromosome 22, 50964238: 50964238
20 TYMP NM_001257988.1(TYMP): c.1410dupC (p.Ser471Leufs) duplication Pathogenic rs786205097 GRCh38 Chromosome 22, 50525809: 50525809
21 TYMP NM_001953.4(TYMP): c.1160_1300del single nucleotide variant Pathogenic rs797044455 GRCh37 Chromosome 22, 50964571: 50964571
22 TYMP NM_001953.4(TYMP): c.1160_1300del single nucleotide variant Pathogenic rs797044455 GRCh38 Chromosome 22, 50526142: 50526142
23 TYMP NM_001257988.1(TYMP): c.1193_1198delCGCTGG (p.Ala398_Leu399del) deletion Pathogenic rs786205098 GRCh37 Chromosome 22, 50964532: 50964537
24 TYMP NM_001257988.1(TYMP): c.1193_1198delCGCTGG (p.Ala398_Leu399del) deletion Pathogenic rs786205098 GRCh38 Chromosome 22, 50526103: 50526108
25 TYMP NM_001113755.2(TYMP): c.457G> A (p.Gly153Ser) single nucleotide variant Pathogenic rs121913038 GRCh37 Chromosome 22, 50967000: 50967000
26 TYMP NM_001113755.2(TYMP): c.457G> A (p.Gly153Ser) single nucleotide variant Pathogenic rs121913038 GRCh38 Chromosome 22, 50528571: 50528571
27 TYMP NM_001113755.2(TYMP): c.131G> A (p.Arg44Gln) single nucleotide variant Pathogenic rs28931613 GRCh37 Chromosome 22, 50968008: 50968008
28 TYMP NM_001113755.2(TYMP): c.131G> A (p.Arg44Gln) single nucleotide variant Pathogenic rs28931613 GRCh38 Chromosome 22, 50529579: 50529579
29 TYMP NM_001953.4(TYMP): c.215_417del single nucleotide variant Pathogenic rs767245071 GRCh37 Chromosome 22, 50967768: 50967768
30 TYMP NM_001953.4(TYMP): c.215_417del single nucleotide variant Pathogenic rs767245071 GRCh38 Chromosome 22, 50529339: 50529339
31 TYMP NM_001953.4(TYMP): c.622G> A (p.Val208Met) single nucleotide variant Likely pathogenic rs121913039 GRCh37 Chromosome 22, 50966041: 50966041
32 TYMP NM_001953.4(TYMP): c.622G> A (p.Val208Met) single nucleotide variant Likely pathogenic rs121913039 GRCh38 Chromosome 22, 50527612: 50527612
33 TYMP NM_001113755.2(TYMP): c.931G> C (p.Gly311Arg) single nucleotide variant Pathogenic rs121913040 GRCh37 Chromosome 22, 50964903: 50964903
34 TYMP NM_001113755.2(TYMP): c.931G> C (p.Gly311Arg) single nucleotide variant Pathogenic rs121913040 GRCh38 Chromosome 22, 50526474: 50526474
35 TYMP NM_001113755.2(TYMP): c.605G> C (p.Arg202Thr) single nucleotide variant Pathogenic rs121913041 GRCh37 Chromosome 22, 50966058: 50966058
36 TYMP NM_001113755.2(TYMP): c.605G> C (p.Arg202Thr) single nucleotide variant Pathogenic rs121913041 GRCh38 Chromosome 22, 50527629: 50527629
37 TYMP NM_001113755.2(TYMP): c.854T> C (p.Leu285Pro) single nucleotide variant Pathogenic rs121913042 GRCh37 Chromosome 22, 50965079: 50965079
38 TYMP NM_001113755.2(TYMP): c.854T> C (p.Leu285Pro) single nucleotide variant Pathogenic rs121913042 GRCh38 Chromosome 22, 50526650: 50526650
39 POLG NM_002693.2(POLG): c.3131T> C (p.Val1044Ala) single nucleotide variant Uncertain significance rs150233690 GRCh37 Chromosome 15, 89862304: 89862304
40 POLG NM_002693.2(POLG): c.3131T> C (p.Val1044Ala) single nucleotide variant Uncertain significance rs150233690 GRCh38 Chromosome 15, 89319073: 89319073
41 SCO2; TYMP NM_001953.4(TYMP): c.1412C> T (p.Ser471Leu) single nucleotide variant Benign rs11479 GRCh37 Chromosome 22, 50964236: 50964236
42 SCO2; TYMP NM_001953.4(TYMP): c.1412C> T (p.Ser471Leu) single nucleotide variant Benign rs11479 GRCh38 Chromosome 22, 50525807: 50525807
43 SCO2; TYMP NM_001953.4(TYMP): c.972C> T (p.Ala324=) single nucleotide variant Benign rs131804 GRCh37 Chromosome 22, 50964862: 50964862
44 SCO2; TYMP NM_001953.4(TYMP): c.972C> T (p.Ala324=) single nucleotide variant Benign rs131804 GRCh38 Chromosome 22, 50526433: 50526433
45 TYMP NM_001953.4(TYMP): c.214+13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs74624637 GRCh37 Chromosome 22, 50967912: 50967912
46 TYMP NM_001953.4(TYMP): c.214+13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs74624637 GRCh38 Chromosome 22, 50529483: 50529483
47 SCO2; TYMP NM_001953.4(TYMP): c.831G> A (p.Leu277=) single nucleotide variant Benign/Likely benign rs8141558 GRCh37 Chromosome 22, 50965102: 50965102
48 SCO2; TYMP NM_001953.4(TYMP): c.831G> A (p.Leu277=) single nucleotide variant Benign/Likely benign rs8141558 GRCh38 Chromosome 22, 50526673: 50526673
49 SCO2; TYMP NM_001953.4(TYMP): c.1284T> A (p.Gly428=) single nucleotide variant Benign rs1138404 GRCh37 Chromosome 22, 50964446: 50964446
50 SCO2; TYMP NM_001953.4(TYMP): c.1284T> A (p.Gly428=) single nucleotide variant Benign rs1138404 GRCh38 Chromosome 22, 50526017: 50526017

Expression for Mitochondrial Neurogastrointestinal Encephalomyopathy

Search GEO for disease gene expression data for Mitochondrial Neurogastrointestinal Encephalomyopathy.

Pathways for Mitochondrial Neurogastrointestinal Encephalomyopathy

Pathways related to Mitochondrial Neurogastrointestinal Encephalomyopathy according to KEGG:

37
# Name Kegg Source Accession
1 Pyrimidine metabolism hsa00240

GO Terms for Mitochondrial Neurogastrointestinal Encephalomyopathy

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

# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 8.96 POLG RRM2B
2 mitochondrial DNA replication GO:0006264 8.62 POLG RRM2B

Sources for Mitochondrial Neurogastrointestinal Encephalomyopathy

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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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