MNGIE
MCID: MTC111
MIFTS: 47

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 58 36 29 6
Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome 6
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome 70
Mngie 58

Characteristics:

Orphanet epidemiological data:

58
mitochondrial neurogastrointestinal encephalomyopathy
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare gastroenterological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Mitochondrial Neurogastrointestinal Encephalomyopathy

KEGG : 36 Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive neurodegenerative disorder associated with thymidine phosphorylase deficiency resulting in high levels of plasma thymidine and a characteristic clinical phenotype. The disease is characterized clinically by ptosis, progressive external ophthalmoparesis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and leukoencephalopathy. MNGIE is caused by TYMP mutations. Rare cases of MNGIE-like phenotype have been linked to RRM2B and POLG mutations.

MalaCards based summary : Mitochondrial Neurogastrointestinal Encephalomyopathy, also known as mitochondrial neurogastrointestinal encephalomyopathy syndrome, is related to mitochondrial dna depletion syndrome 1 and ptosis, 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 TP53 Regulates Metabolic Genes. Affiliated tissues include eye, bone marrow and smooth muscle, and related phenotypes are dysphagia and gastroesophageal reflux

Related Diseases for Mitochondrial Neurogastrointestinal Encephalomyopathy

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

(show top 50) (show all 92)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 1 31.2 TYMP SCO2 POLG MT-TK
2 ptosis 30.9 TYMP RRM2B POLG
3 intestinal pseudo-obstruction 30.8 TYMP POLG
4 kearns-sayre syndrome 30.5 TYMP SCO2 RRM2B POLG
5 mitochondrial dna depletion syndrome 4b 30.1 TYMP SCO2 RRM2B POLG EDAR
6 myopathy 29.8 TYMP RRM2B POLG MT-TK
7 chronic progressive external ophthalmoplegia 29.8 TYMP RRM2B POLG MT-TK
8 axonal neuropathy 29.8 RRM2B POLG
9 mitochondrial metabolism disease 29.8 SCO2 RRM2B POLG
10 mitochondrial myopathy 29.8 TYMP RRM2B POLG
11 mitochondrial dna depletion syndrome 4a 29.6 TYMP RRM2B POLG EDAR
12 mitochondrial disorders 29.4 TYMP SCO2 RRM2B POLG MT-TK
13 mitochondrial encephalomyopathy 29.4 POLG MT-TK
14 lactic acidosis 29.3 SCO2 RRM2B POLG MT-TK
15 3-methylglutaconic aciduria, type iii 29.2 TYMP SCO2 POLG
16 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 29.0 TYMP POLG MT-TK
17 mitochondrial dna depletion syndrome 8a 11.3
18 autosomal recessive disease 10.9
19 peripheral nervous system disease 10.9
20 neuropathy 10.9
21 polyneuropathy 10.6
22 anorexia nervosa 10.5
23 celiac disease 1 10.4
24 leukodystrophy 10.4
25 muscular atrophy 10.4
26 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 10.3
27 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
28 inflammatory bowel disease 10.3
29 diarrhea 10.3
30 hypogonadism 10.3
31 encephalopathy 10.3
32 visceral myopathy 10.1
33 trigeminal neuralgia 10.1
34 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
35 myasthenia gravis 10.1
36 ataxia and polyneuropathy, adult-onset 10.1
37 infective endocarditis 10.1
38 scoliosis 10.1
39 non-alcoholic fatty liver disease 10.1
40 endocarditis 10.1
41 myopia 10.1
42 exocrine pancreatic insufficiency 10.1
43 amenorrhea 10.1
44 toxic shock syndrome 10.1
45 optic nerve disease 10.1
46 polyradiculoneuropathy 10.1
47 neuromuscular disease 10.1
48 chronic inflammatory demyelinating polyradiculoneuropathy 10.1
49 demyelinating polyneuropathy 10.1
50 intestinal disease 10.1

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:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002015
2 gastroesophageal reflux 58 31 hallmark (90%) Very frequent (99-80%) HP:0002020
3 vomiting 58 31 hallmark (90%) Very frequent (99-80%) HP:0002013
4 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002027
5 cachexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004326
6 leukoencephalopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002352
7 external ophthalmoplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000544
8 abdominal distention 58 31 hallmark (90%) Very frequent (99-80%) HP:0003270
9 poor appetite 58 31 hallmark (90%) Very frequent (99-80%) HP:0004396
10 sensorimotor neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007141
11 nausea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002018
12 small intestinal dysmotility 58 31 hallmark (90%) Very frequent (99-80%) HP:0012850
13 atrophic muscularis propria 58 31 hallmark (90%) Very frequent (99-80%) HP:0025149
14 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
15 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
16 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
17 ragged-red muscle fibers 58 31 frequent (33%) Frequent (79-30%) HP:0003200
18 easy fatigability 58 31 frequent (33%) Frequent (79-30%) HP:0003388
19 paresthesia 58 31 frequent (33%) Frequent (79-30%) HP:0003401
20 decreased motor nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0003431
21 lactic acidosis 58 31 frequent (33%) Frequent (79-30%) HP:0003128
22 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
23 abnormality of the cerebral white matter 58 31 frequent (33%) Frequent (79-30%) HP:0002500
24 distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002460
25 demyelinating peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0007108
26 abnormality of the hand 58 31 frequent (33%) Frequent (79-30%) HP:0001155
27 hyperalaninemia 58 31 frequent (33%) Frequent (79-30%) HP:0003348
28 peripheral axonal neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0003477
29 foot dorsiflexor weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009027
30 abnormality of the mitochondrion 58 31 frequent (33%) Frequent (79-30%) HP:0012103
31 increased csf protein 58 31 frequent (33%) Frequent (79-30%) HP:0002922
32 decreased number of large peripheral myelinated nerve fibers 58 31 frequent (33%) Frequent (79-30%) HP:0003387
33 decreased sensory nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0003448
34 abnormality of the extraocular muscles 58 31 frequent (33%) Frequent (79-30%) HP:0008049
35 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
36 decreased muscle mass 58 31 occasional (7.5%) Occasional (29-5%) HP:0003199
37 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
38 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
39 hypergonadotropic hypogonadism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000815
40 macrovesicular hepatic steatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001403
41 abnormal cell morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0025461
42 hypogonadotropic hypogonadism 31 occasional (7.5%) HP:0000044
43 dementia 58 31 very rare (1%) Very rare (<4-1%) HP:0000726
44 hypogonadotrophic hypogonadism 58 Occasional (29-5%)
45 peripheral neuropathy 58 Frequent (79-30%)
46 weight loss 58 Frequent (79-30%)
47 ophthalmoparesis 58 Frequent (79-30%)
48 abnormality of the gastrointestinal tract 58 Frequent (79-30%)
49 gastrointestinal dysmotility 58 Very frequent (99-80%)

UMLS symptoms related to Mitochondrial Neurogastrointestinal Encephalomyopathy:


vomiting; abdominal pain; intermittent diarrhea; chronic constipation

MGI Mouse Phenotypes related to Mitochondrial Neurogastrointestinal Encephalomyopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.02 EDAR POLG RRM2B SCO2 TYMP

Drugs & Therapeutics for Mitochondrial Neurogastrointestinal Encephalomyopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Safety, Tolerability, Pharmacodynamics, and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase (EE-TP) in Patients With MNGIE Not yet recruiting NCT03866954 Phase 2
2 MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy) AHSCT (Allogeneic Hematopoietic Stem Cell Transplant) Safety Study Recruiting NCT02427178 Phase 1
3 The Rare Disease Clinical Research Network Natural History Study of MNGIE Unknown status NCT01694953
4 Natural History Study of Mitochondrial Neurogastrointestinal Encephalomyopathy Recruiting NCT04245917

Search NIH Clinical Center for Mitochondrial Neurogastrointestinal Encephalomyopathy

Genetic Tests for Mitochondrial Neurogastrointestinal Encephalomyopathy

Genetic tests related to Mitochondrial Neurogastrointestinal Encephalomyopathy:

# Genetic test Affiliating Genes
1 Mitochondrial Neurogastrointestinal Encephalomyopathy 29

Anatomical Context for Mitochondrial Neurogastrointestinal Encephalomyopathy

MalaCards organs/tissues related to Mitochondrial Neurogastrointestinal Encephalomyopathy:

40
Eye, Bone Marrow, Smooth Muscle, Skeletal Muscle, Small Intestine

Publications for Mitochondrial Neurogastrointestinal Encephalomyopathy

Articles related to Mitochondrial Neurogastrointestinal Encephalomyopathy:

(show top 50) (show all 301)
# Title Authors PMID Year
1
MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation. 61 6
23430799 2013
2
Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis. 61 6
23341816 2012
3
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. 61 6
21933806 2011
4
Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome. 61 6
20151198 2010
5
A second MNGIE patient without typical mitochondrial skeletal muscle involvement. 61 6
20232099 2010
6
Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity. 6 61
19853446 2009
7
Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). 6 61
19056268 2009
8
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in two Mexican brothers harboring a novel mutation in the ECGF1 gene. 61 6
18280229 2008
9
Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation. 6 61
17437622 2007
10
Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features. 6 61
17294068 2007
11
Increased muscle nucleoside levels associated with a novel frameshift mutation in the thymidine phosphorylase gene in a Spanish patient with MNGIE. 61 6
16198108 2005
12
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity. 61 6
16178026 2005
13
Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation. 61 6
15742109 2005
14
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome. 61 6
15781193 2005
15
Mitochondrial Neurogastrointestinal Encephalopathy Disease 6 61
20301358 2005
16
Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE. 6 61
15505189 2004
17
MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation. 6 61
14757860 2004
18
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. 61 6
14720311 2004
19
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. 6 61
12825077 2003
20
Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients. 61 6
12529715 2003
21
Multiple mtDNA deletions with features of MNGIE. 6 61
12297582 2002
22
Phenotypic variability in a Spanish family with MNGIE. 61 6
12177387 2002
23
MNGIE: diarrhea and leukoencephalopathy. 6 61
12084896 2002
24
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. 6 61
10852545 2000
25
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. 6 61
9924029 1999
26
Novel sequence variations in the thymidine phosphorylase gene causing mitochondrial neurogastrointestinal encephalopathy. 6
27261974 2016
27
Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations. 6
20176107 2010
28
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. 6
20142534 2010
29
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). 6
19748572 2009
30
Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction. 6
19344718 2009
31
R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity. 6
19364868 2009
32
Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations. 6
19307547 2009
33
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. 6
17426723 2007
34
Novel mutation of human DNA polymerase gamma associated with mitochondrial toxicity induced by anti-HIV treatment. 6
17436221 2007
35
POLG mutations in Alpers syndrome. 6
16177225 2005
36
POLG mutations and Alpers syndrome. 6
15929042 2005
37
Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene. 6
15349879 2004
38
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. 6
12975295 2003
39
Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle. 6
12872260 2003
40
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. 6
12210792 2002
41
A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy. 6
9380435 1997
42
Hematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalopathy: A single-center experience underscoring the multiple factors involved in the prognosis. 61
33533561 2021
43
Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy. 61
33655764 2021
44
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network. 61
32898308 2021
45
Orphan Peripheral Neuropathies. 61
32986679 2021
46
Regional anesthesia in two consecutive surgeries in a patient with mitochondrial neurogastrointestinal encephalomyopathy: a case report. 61
33712258 2021
47
Comment on "Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands". 61
33728077 2021
48
Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides. 61
33232869 2020
49
Pregnancy in MNGIE: a clinical and metabolic honeymoon. 61
33159497 2020
50
Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications. 61
32683607 2020

Variations for Mitochondrial Neurogastrointestinal Encephalomyopathy

ClinVar genetic disease variations for Mitochondrial Neurogastrointestinal Encephalomyopathy:

6 (show top 50) (show all 259)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TYMP NM_001953.5(TYMP):c.340G>A (p.Asp114Asn) SNV Pathogenic 223024 rs1064792861 GRCh37: 22:50967642-50967642
GRCh38: 22:50529213-50529213
2 TYMP NM_001953.5(TYMP):c.261G>T (p.Glu87Asp) SNV Pathogenic 223021 rs749827433 GRCh37: 22:50967721-50967721
GRCh38: 22:50529292-50529292
3 TYMP NM_001953.5(TYMP):c.605G>A (p.Arg202Lys) SNV Pathogenic 223033 rs121913041 GRCh37: 22:50966058-50966058
GRCh38: 22:50527629-50527629
4 TYMP NM_001953.5(TYMP):c.478T>C (p.Ser160Pro) SNV Pathogenic 223030 rs1064792864 GRCh37: 22:50966979-50966979
GRCh38: 22:50528550-50528550
5 TYMP NM_001953.5(TYMP):c.938T>C (p.Leu313Pro) SNV Pathogenic 223050 rs892141220 GRCh37: 22:50964896-50964896
GRCh38: 22:50526467-50526467
6 TYMP NM_001953.5(TYMP):c.263_264del (p.Thr88fs) Deletion Pathogenic 223079 rs1064792886 GRCh37: 22:50967718-50967719
GRCh38: 22:50529289-50529290
7 TYMP NM_001953.5(TYMP):c.228G>A (p.Met76Ile) SNV Pathogenic 223019 rs1064792859 GRCh37: 22:50967754-50967754
GRCh38: 22:50529325-50529325
8 TYMP NM_001953.5(TYMP):c.715G>A (p.Ala239Thr) SNV Pathogenic 223039 rs1064792869 GRCh37: 22:50965644-50965644
GRCh38: 22:50527215-50527215
9 TYMP NM_001953.5(TYMP):c.623T>G (p.Val208Gly) SNV Pathogenic 223036 rs1064792867 GRCh37: 22:50966040-50966040
GRCh38: 22:50527611-50527611
10 TYMP NM_001953.5(TYMP):c.931G>A (p.Gly311Ser) SNV Pathogenic 223048 rs121913040 GRCh37: 22:50964903-50964903
GRCh38: 22:50526474-50526474
11 TYMP NM_001953.5(TYMP):c.275C>A (p.Thr92Asn) SNV Pathogenic 223022 rs891107196 GRCh37: 22:50967707-50967707
GRCh38: 22:50529278-50529278
12 TYMP NM_001953.5(TYMP):c.398T>C (p.Leu133Pro) SNV Pathogenic 223025 rs1064792862 GRCh37: 22:50967584-50967584
GRCh38: 22:50529155-50529155
13 TYMP NM_001953.5(TYMP):c.112G>T (p.Glu38Ter) SNV Pathogenic 223014 rs1054084896 GRCh37: 22:50968027-50968027
GRCh38: 22:50529598-50529598
14 TYMP NM_001953.5(TYMP):c.518T>G (p.Met173Arg) SNV Pathogenic 223031 rs1064792865 GRCh37: 22:50966145-50966145
GRCh38: 22:50527716-50527716
15 TYMP NM_001953.5(TYMP):c.328C>T (p.Gln110Ter) SNV Pathogenic 223023 rs1064792860 GRCh37: 22:50967654-50967654
GRCh38: 22:50529225-50529225
16 TYMP NM_001953.5(TYMP):c.720del (p.Val241fs) Deletion Pathogenic 223080 rs1064792887 GRCh37: 22:50965639-50965639
GRCh38: 22:50527210-50527210
17 TYMP NM_001953.5(TYMP):c.261G>C (p.Glu87Asp) SNV Pathogenic 223020 rs749827433 GRCh37: 22:50967721-50967721
GRCh38: 22:50529292-50529292
18 TYMP NM_001953.5(TYMP):c.146T>G (p.Leu49Arg) SNV Pathogenic 223017 rs1064792857 GRCh37: 22:50967993-50967993
GRCh38: 22:50529564-50529564
19 TYMP NM_001953.5(TYMP):c.856G>A (p.Glu286Lys) SNV Pathogenic 223043 rs866001342 GRCh37: 22:50965077-50965077
GRCh38: 22:50526648-50526648
20 TYMP NM_001953.5(TYMP):c.760A>C (p.Thr254Pro) SNV Pathogenic 223040 rs1064792870 GRCh37: 22:50965599-50965599
GRCh38: 22:50527170-50527170
21 TYMP NM_001953.5(TYMP):c.467A>G (p.Asp156Gly) SNV Pathogenic 223029 rs1064792863 GRCh37: 22:50966990-50966990
GRCh38: 22:50528561-50528561
22 TYMP NM_001953.5(TYMP):c.401C>A (p.Ala134Glu) SNV Pathogenic 223026 rs199901350 GRCh37: 22:50967581-50967581
GRCh38: 22:50529152-50529152
23 TYMP NM_001953.5(TYMP):c.931G>T (p.Gly311Cys) SNV Pathogenic 223049 rs121913040 GRCh37: 22:50964903-50964903
GRCh38: 22:50526474-50526474
24 TYMP NM_001953.5(TYMP):c.99dup (p.Lys34fs) Duplication Pathogenic 223072 rs1064792880 GRCh37: 22:50968039-50968040
GRCh38: 22:50529610-50529611
25 TYMP NM_001953.5(TYMP):c.893G>A (p.Gly298Asp) SNV Pathogenic 223046 rs1064792872 GRCh37: 22:50965040-50965040
GRCh38: 22:50526611-50526611
26 TYMP NM_001953.5(TYMP):c.530T>C (p.Leu177Pro) SNV Pathogenic 223032 rs1064792866 GRCh37: 22:50966133-50966133
GRCh38: 22:50527704-50527704
27 TYMP NM_001953.4(TYMP):c.929-3G>A SNV Pathogenic 223063 GRCh37:
GRCh38:
28 TYMP NM_001953.5(TYMP):c.131G>A (p.Arg44Gln) SNV Pathogenic 16661 rs28931613 GRCh37: 22:50968008-50968008
GRCh38: 22:50529579-50529579
29 TYMP NM_001953.5(TYMP):c.931G>C (p.Gly311Arg) SNV Pathogenic 16664 rs121913040 GRCh37: 22:50964903-50964903
GRCh38: 22:50526474-50526474
30 TYMP NM_001953.5(TYMP):c.605G>C (p.Arg202Thr) SNV Pathogenic 16665 rs121913041 GRCh37: 22:50966058-50966058
GRCh38: 22:50527629-50527629
31 TYMP NM_001953.5(TYMP):c.854T>C (p.Leu285Pro) SNV Pathogenic 16666 rs121913042 GRCh37: 22:50965079-50965079
GRCh38: 22:50526650-50526650
32 TYMP NM_001953.5(TYMP):c.162C>G (p.Ile54Met) SNV Pathogenic 223018 rs1064792858 GRCh37: 22:50967977-50967977
GRCh38: 22:50529548-50529548
33 TYMP NM_001953.5(TYMP):c.128A>C (p.Lys43Thr) SNV Pathogenic 223015 rs752137335 GRCh37: 22:50968011-50968011
GRCh38: 22:50529582-50529582
34 TYMP NM_001953.5(TYMP):c.707T>C (p.Phe236Ser) SNV Pathogenic 223038 rs1064792868 GRCh37: 22:50965652-50965652
GRCh38: 22:50527223-50527223
35 TYMP NM_001953.5(TYMP):c.784del (p.Ser261_Leu262insTer) Deletion Pathogenic 223081 rs1064792888 GRCh37: 22:50965149-50965149
GRCh38: 22:50526720-50526720
36 TYMP NM_001953.5(TYMP):c.865G>A (p.Glu289Lys) SNV Pathogenic 223044 rs946234163 GRCh37: 22:50965068-50965068
GRCh38: 22:50526639-50526639
37 TYMP NM_001953.5(TYMP):c.847C>G (p.His283Asp) SNV Pathogenic 223041 rs1064792871 GRCh37: 22:50965086-50965086
GRCh38: 22:50526657-50526657
38 POLG NM_002693.2(POLG):c.2591A>G (p.Asn864Ser) SNV Pathogenic 13506 rs121918050 GRCh37: 15:89864974-89864974
GRCh38: 15:89321743-89321743
39 TYMP NM_001257988.1(TYMP):c.516+2T>C SNV Pathogenic 16654 rs797044454 GRCh37: 22:50966939-50966939
GRCh38: 22:50528510-50528510
40 TYMP c.52_53delCT Variation Pathogenic 223078 GRCh37:
GRCh38:
41 TYMP NM_001953.5(TYMP):c.763_765del (p.Leu255del) Deletion Pathogenic 440503 rs1556488264 GRCh37: 22:50965594-50965596
GRCh38: 22:50527165-50527167
42 TYMP NM_001953.5(TYMP):c.628A>C (p.Ser210Arg) SNV Pathogenic 440502 rs761665644 GRCh37: 22:50966035-50966035
GRCh38: 22:50527606-50527606
43 TYMP NM_001257988.1(TYMP):c.928+1G>A SNV Pathogenic 223062 rs1064792876 GRCh37: 22:50965004-50965004
GRCh38: 22:50526575-50526575
44 TYMP NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) SNV Pathogenic 16655 rs121913037 GRCh37: 22:50967024-50967024
GRCh38: 22:50528595-50528595
45 TYMP NM_001953.5(TYMP):c.457G>A (p.Gly153Ser) SNV Pathogenic 16660 rs121913038 GRCh37: 22:50967000-50967000
GRCh38: 22:50528571-50528571
46 SCO2 , TYMP NM_001953.5(TYMP):c.1300+2T>A SNV Pathogenic 223070 rs1064792879 GRCh37: 22:50964428-50964428
GRCh38: 22:50525999-50525999
47 SCO2 , TYMP NM_001953.5(TYMP):c.1311G>A (p.Trp437Ter) SNV Pathogenic 223056 rs1064792875 GRCh37: 22:50964337-50964337
GRCh38: 22:50525908-50525908
48 SCO2 , TYMP NM_001953.5(TYMP):c.1301-1G>A SNV Pathogenic 223071 rs773785934 GRCh37: 22:50964348-50964348
GRCh38: 22:50525919-50525919
49 SCO2 , TYMP NM_001953.5(TYMP):c.1160-2A>G SNV Pathogenic 223068 rs1064792877 GRCh37: 22:50964572-50964572
GRCh38: 22:50526143-50526143
50 SCO2 , TYMP NM_001953.5(TYMP):c.1159+2T>A SNV Pathogenic 223065 rs770277446 GRCh37: 22:50964673-50964673
GRCh38: 22:50526244-50526244

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:

36
# Name Kegg Source Accession
1 Pyrimidine metabolism hsa00240

Pathways related to Mitochondrial Neurogastrointestinal Encephalomyopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.09 SCO2 RRM2B
2 10.23 RRM2B POLG
3
Show member pathways
9.53 TYMP SCO2

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 RRM2B POLG
2 mitochondrial DNA replication GO:0006264 8.62 RRM2B POLG

Sources for Mitochondrial Neurogastrointestinal Encephalomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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