MCID: MTC111
MIFTS: 38

Mitochondrial Neurogastrointestinal Encephalomyopathy

Categories: Neuronal diseases, Eye diseases, Gastrointestinal diseases, Metabolic 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 abdominal pain, vomiting 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, small intestine and liver, and related phenotypes are external ophthalmoplegia and vomiting

Related Diseases for Mitochondrial Neurogastrointestinal Encephalomyopathy

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

(show all 33)
# Related Disease Score Top Affiliating Genes
1 mitochondrial neurogastrointestinal encephalopathy disease 33.0 POLG TYMP
2 mitochondrial dna depletion syndrome 1 30.3 MT-TK POLG TYMP
3 chronic progressive external ophthalmoplegia 28.5 MT-TK POLG TYMP
4 mitochondrial disorders 27.6 MT-TK POLG RRM2B TYMP
5 mitochondrial dna depletion syndrome 8a 11.6
6 encephalomyopathy 11.0
7 peritonitis 10.2
8 anorexia nervosa 10.2
9 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
10 hypogonadism 10.2
11 cerebritis 10.1
12 intestinal pseudo-obstruction 10.1
13 polyradiculoneuropathy 10.1
14 chronic inflammatory demyelinating polyradiculoneuropathy 10.1
15 diverticulitis 10.1
16 trigeminal neuralgia 10.1
17 eating disorder 10.1
18 celiac disease 1 10.1
19 brainstem auditory evoked responses 10.1
20 refractory celiac disease 10.1
21 endocarditis 10.1
22 esophagitis 10.1
23 camptocormism 9.8 POLG RRM2B
24 mitochondrial dna depletion syndrome 4a 9.8 POLG TYMP
25 autosomal dominant progressive external ophthalmoplegia 9.7 POLG RRM2B
26 ocular motility disease 9.6 POLG TYMP
27 paralytic ileus 9.6 MT-TK TYMP
28 neonatal period electroclinical syndrome 9.4 MT-TK POLG
29 ptosis 9.2 POLG TYMP
30 myoclonic epilepsy associated with ragged-red fibers 9.1 MT-TK POLG
31 3-methylglutaconic aciduria, type v 8.9 MT-TK POLG TYMP
32 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 8.9 MT-TK POLG TYMP
33 kearns-sayre syndrome 8.3 MT-TK POLG RRM2B TYMP

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

UMLS symptoms related to Mitochondrial Neurogastrointestinal Encephalomyopathy:


abdominal pain, vomiting, 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, Small Intestine, Liver, Bone, Brain, Bone Marrow

Publications for Mitochondrial Neurogastrointestinal Encephalomyopathy

Articles related to Mitochondrial Neurogastrointestinal Encephalomyopathy:

(show top 50) (show all 91)
# Title Authors Year
1
Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy. ( 29284302 )
2018
2
Mitochondrial Neurogastrointestinal Encephalomyopathy in the Differential Diagnosis of Eating Disorders. ( 28935389 )
2017
3
Transient clinical improvement of a mitochondrial neurogastrointestinal encephalomyopathy-like syndrome after allogeneic haematopoietic stem cell transplantation. ( 28765176 )
2017
4
Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options. ( 28261062 )
2017
5
Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome with an Unusual Pattern of Inheritance. ( 28904474 )
2017
6
Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome Treated with Stem Cell Transplant: A Case Series and Literature Review. ( 28411356 )
2017
7
Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy. ( 28263873 )
2017
8
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) mimicking refractory celiac disease. ( 28539227 )
2017
9
Pearls &amp;amp; Oy-sters: Mitochondrial neurogastrointestinal encephalomyopathy: Diagnosis and response to peritoneal dialysis. ( 27044617 )
2016
10
Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy. ( 27004974 )
2016
11
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy. ( 27421916 )
2016
12
Mitochondrial Neurogastrointestinal Encephalomyopathy Presenting as Anorexia Nervosa. ( 27743770 )
2016
13
A celiac case mimicking mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). ( 29090882 )
2016
14
Mitochondrial Neurogastrointestinal Encephalomyopathy Treated with Stem Cell Transplantation: A Case Report and Review of Literature. ( 25585305 )
2015
15
Spontaneous abdominal esophageal perforation in a patient with mitochondrial neurogastrointestinal encephalomyopathy. ( 25649531 )
2015
16
Eye movement changes in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). ( 25656101 )
2015
17
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy. ( 26264513 )
2015
18
MicroRNA expression profile of a Malaysian Bajau family with familial mitochondrial neurogastrointestinal encephalomyopathy. ( 26535630 )
2015
19
Liver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathy. ( 24802030 )
2014
20
Correction: liver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathy. ( 25285923 )
2014
21
Diagnosis of mitochondrial neurogastrointestinal encephalomyopathy: proposal of a clinical algorithm. ( 24726585 )
2014
22
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation. ( 25022940 )
2014
23
Endocarditis in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) Syndrome: The First in the Literature. ( 25478431 )
2014
24
Thymidine phosphorylase is both a therapeutic and a suicide gene in a murine model of mitochondrial neurogastrointestinal encephalomyopathy. ( 24807807 )
2014
25
Mitochondrial neurogastrointestinal encephalomyopathy treated with peritoneal dialysis and bone marrow transplantation. ( 24599829 )
2014
26
Mitochondrial neurogastrointestinal encephalomyopathy: imaging and clinical findings in three patients. ( 23302282 )
2013
27
Possible toxicity of tuberculostatic agents in a patient with a novel TYMP mutation leading to mitochondrial neurogastrointestinal encephalomyopathy. ( 23590577 )
2013
28
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
29
Compound heterozygous mutations of TYMP as underlying causes of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). ( 23685548 )
2013
30
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy. ( 24199812 )
2013
31
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy. ( 22711161 )
2012
32
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. ( 21993618 )
2012
33
Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis. ( 23341816 )
2012
34
A novel finding in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy): hypergonadotropic hypogonadism. ( 22908072 )
2012
35
A new thymidine phosphorylase mutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy. ( 21667329 )
2012
36
Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers. ( 22618301 )
2012
37
Mitochondrial neurogastrointestinal encephalomyopathy mimicking chronic inflammatory demyelinating polyradiculoneuropathy. ( 22286402 )
2012
38
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. ( 21933806 )
2011
39
Evaluation of gastrointestinal mtDNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). ( 21761307 )
2011
40
Tachyduodenia in mitochondrial neurogastrointestinal encephalomyopathy. ( 21481099 )
2011
41
Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). ( 21483760 )
2011
42
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy. ( 21503690 )
2011
43
Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach. ( 20436523 )
2011
44
Multiple cranial nerve enhancement in mitochondrial neurogastrointestinal encephalomyopathy. ( 20351514 )
2010
45
Emergency surgery in chronic intestinal pseudo-obstruction due to mitochondrial neurogastrointestinal encephalomyopathy: case reports. ( 21143863 )
2010
46
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation. ( 20585803 )
2010
47
Mitochondrial neurogastrointestinal encephalomyopathy: case report. ( 20931438 )
2010
48
Mitochondrial neurogastrointestinal encephalomyopathy associated with progressive hearing loss. ( 20546644 )
2010
49
Recalcitrant vomiting, disturbed eye movements, and leukoencephalopathy. Mitochondrial neurogastrointestinal encephalomyopathy. ( 19789089 )
2009
50
A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy. ( 19523753 )
2009

Variations for Mitochondrial Neurogastrointestinal Encephalomyopathy

ClinVar genetic disease variations for Mitochondrial Neurogastrointestinal Encephalomyopathy:

6
(show top 50) (show all 216)
# 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 rs113994095 GRCh37 Chromosome 15, 89870432: 89870432
4 POLG NM_002693.2(POLG): c.1399G> A (p.Ala467Thr) single nucleotide variant 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 TYMP NM_001953.3(TYMP): c.866A> C single nucleotide variant Pathogenic rs121913036 GRCh37 Chromosome 22, 50965067: 50965067
8 TYMP NM_001953.3(TYMP): c.866A> C single nucleotide variant Pathogenic rs121913036 GRCh38 Chromosome 22, 50526638: 50526638
9 TYMP NM_001257988.1(TYMP): c.418_516del single nucleotide variant Pathogenic rs797044454 GRCh38 Chromosome 22, 50528510: 50528510
10 TYMP NM_001257988.1(TYMP): c.418_516del single nucleotide variant Pathogenic rs797044454 GRCh37 Chromosome 22, 50966939: 50966939
11 TYMP NM_001113755.2(TYMP): c.433G> A (p.Gly145Arg) single nucleotide variant Pathogenic rs121913037 GRCh37 Chromosome 22, 50967024: 50967024
12 TYMP NM_001113755.2(TYMP): c.433G> A (p.Gly145Arg) single nucleotide variant Pathogenic rs121913037 GRCh38 Chromosome 22, 50528595: 50528595
13 TYMP NM_001953.3(TYMP): c.665A> G single nucleotide variant Likely pathogenic rs149977726 GRCh37 Chromosome 22, 50965694: 50965694
14 TYMP NM_001953.3(TYMP): c.665A> G single nucleotide variant Likely pathogenic rs149977726 GRCh38 Chromosome 22, 50527265: 50527265
15 TYMP NM_001257988.1(TYMP): c.1410dupC (p.Ser471Leufs) duplication Pathogenic rs786205097 GRCh37 Chromosome 22, 50964238: 50964238
16 TYMP NM_001257988.1(TYMP): c.1410dupC (p.Ser471Leufs) duplication Pathogenic rs786205097 GRCh38 Chromosome 22, 50525809: 50525809
17 TYMP NM_001953.4(TYMP): c.1160_1300del single nucleotide variant Pathogenic rs797044455 GRCh37 Chromosome 22, 50964571: 50964571
18 TYMP NM_001953.4(TYMP): c.1160_1300del single nucleotide variant Pathogenic rs797044455 GRCh38 Chromosome 22, 50526142: 50526142
19 TYMP NM_001257988.1(TYMP): c.1193_1198delCGCTGG (p.Ala398_Leu399del) deletion Pathogenic rs786205098 GRCh37 Chromosome 22, 50964532: 50964537
20 TYMP NM_001257988.1(TYMP): c.1193_1198delCGCTGG (p.Ala398_Leu399del) deletion Pathogenic rs786205098 GRCh38 Chromosome 22, 50526103: 50526108
21 TYMP NM_001113755.2(TYMP): c.457G> A (p.Gly153Ser) single nucleotide variant Pathogenic rs121913038 GRCh37 Chromosome 22, 50967000: 50967000
22 TYMP NM_001113755.2(TYMP): c.457G> A (p.Gly153Ser) single nucleotide variant Pathogenic rs121913038 GRCh38 Chromosome 22, 50528571: 50528571
23 TYMP NM_001113755.2(TYMP): c.131G> A (p.Arg44Gln) single nucleotide variant Pathogenic rs28931613 GRCh37 Chromosome 22, 50968008: 50968008
24 TYMP NM_001113755.2(TYMP): c.131G> A (p.Arg44Gln) single nucleotide variant Pathogenic rs28931613 GRCh38 Chromosome 22, 50529579: 50529579
25 TYMP NM_001953.4(TYMP): c.215_417del single nucleotide variant Pathogenic rs767245071 GRCh37 Chromosome 22, 50967768: 50967768
26 TYMP NM_001953.4(TYMP): c.215_417del single nucleotide variant Pathogenic rs767245071 GRCh38 Chromosome 22, 50529339: 50529339
27 TYMP NM_001953.4(TYMP): c.622G> A (p.Val208Met) single nucleotide variant Likely pathogenic rs121913039 GRCh37 Chromosome 22, 50966041: 50966041
28 TYMP NM_001953.4(TYMP): c.622G> A (p.Val208Met) single nucleotide variant Likely pathogenic rs121913039 GRCh38 Chromosome 22, 50527612: 50527612
29 TYMP NM_001113755.2(TYMP): c.931G> C (p.Gly311Arg) single nucleotide variant Pathogenic rs121913040 GRCh37 Chromosome 22, 50964903: 50964903
30 TYMP NM_001113755.2(TYMP): c.931G> C (p.Gly311Arg) single nucleotide variant Pathogenic rs121913040 GRCh38 Chromosome 22, 50526474: 50526474
31 TYMP NM_001113755.2(TYMP): c.605G> C (p.Arg202Thr) single nucleotide variant Pathogenic rs121913041 GRCh37 Chromosome 22, 50966058: 50966058
32 TYMP NM_001113755.2(TYMP): c.605G> C (p.Arg202Thr) single nucleotide variant Pathogenic rs121913041 GRCh38 Chromosome 22, 50527629: 50527629
33 TYMP NM_001113755.2(TYMP): c.854T> C (p.Leu285Pro) single nucleotide variant Pathogenic rs121913042 GRCh37 Chromosome 22, 50965079: 50965079
34 TYMP NM_001113755.2(TYMP): c.854T> C (p.Leu285Pro) single nucleotide variant Pathogenic rs121913042 GRCh38 Chromosome 22, 50526650: 50526650
35 POLG NM_002693.2(POLG): c.1174C> G (p.Leu392Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145289229 GRCh37 Chromosome 15, 89871763: 89871763
36 POLG NM_002693.2(POLG): c.1174C> G (p.Leu392Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145289229 GRCh38 Chromosome 15, 89328532: 89328532
37 POLG NM_002693.2(POLG): c.2207A> G (p.Asn736Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138457939 GRCh38 Chromosome 15, 89323462: 89323462
38 POLG NM_002693.2(POLG): c.2207A> G (p.Asn736Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138457939 GRCh37 Chromosome 15, 89866693: 89866693
39 SCO2; TYMP NM_001953.4(TYMP): c.929-6_929-3del deletion Conflicting interpretations of pathogenicity rs201685922 GRCh37 Chromosome 22, 50964908: 50964911
40 SCO2; TYMP NM_001953.4(TYMP): c.929-6_929-3del deletion Conflicting interpretations of pathogenicity rs201685922 GRCh38 Chromosome 22, 50526479: 50526482
41 TYMP NM_001953.4(TYMP): c.735G> A (p.Gln245=) single nucleotide variant Conflicting interpretations of pathogenicity rs139223629 GRCh37 Chromosome 22, 50965624: 50965624
42 TYMP NM_001953.4(TYMP): c.735G> A (p.Gln245=) single nucleotide variant Conflicting interpretations of pathogenicity rs139223629 GRCh38 Chromosome 22, 50527195: 50527195
43 TYMP NM_001257988.1(TYMP): c.647C> T (p.Ala216Val) single nucleotide variant Benign rs1064792855 GRCh37 Chromosome 22, 50965712: 50965712
44 TYMP NM_001257988.1(TYMP): c.647C> T (p.Ala216Val) single nucleotide variant Benign rs1064792855 GRCh38 Chromosome 22, 50527283: 50527283
45 TYMP NM_001257988.1(TYMP): c.966T> C (p.Thr322=) single nucleotide variant Benign rs1064792856 GRCh38 Chromosome 22, 50526439: 50526439
46 TYMP NM_001257988.1(TYMP): c.966T> C (p.Thr322=) single nucleotide variant Benign rs1064792856 GRCh37 Chromosome 22, 50964868: 50964868
47 TYMP c.972T> C undetermined variant Benign
48 TYMP c.1069A> G undetermined variant Benign
49 TYMP NM_001953.4(TYMP): c.1401C> T (p.Phe467=) single nucleotide variant Likely benign rs1061205 GRCh37 Chromosome 22, 50964247: 50964247
50 TYMP NM_001953.4(TYMP): c.1401C> T (p.Phe467=) single nucleotide variant Likely benign rs1061205 GRCh38 Chromosome 22, 50525818: 50525818

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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10 dbSNP
11 DGIdb
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30 HGMD
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62 PubMed
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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