MTDPS1
MCID: MTC061
MIFTS: 46

Mitochondrial Dna Depletion Syndrome 1 (MTDPS1)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 1

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 1:

Name: Mitochondrial Dna Depletion Syndrome 1 57 12 29 13 6
Polip Syndrome 57 75
Mtdps1 57 75
Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudoobstruction 57
Polyneuropathy Ophthalmoplegia Leukoencephalopathy and Intestinal Pseudoobstruction 75
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related 57
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related 75
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome 73
Mitochondrial Neurogastrointestinal Encephalomyopathy 75
Mitochondrial Dna Depletion Syndrome 1, Mngie Type 75
Myoneurogastrointestinal Encephalopathy Syndrome 57
Mitochondrial Dna Depletion Syndrome, Type 1 40
Myoneurogastrointestinal Encephalomyopathy 75
Mngie, Tymp-Related 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in second to fifth decade
early death in early adulthood often associated with diverticulitis and intestinal perforation


HPO:

32
mitochondrial dna depletion syndrome 1:
Mortality/Aging death in early adulthood
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mitochondrial Dna Depletion Syndrome 1

OMIM : 57 Mitochondrial DNA depletion syndrome-1 (MTDPS1) is an autosomal recessive progressive multisystem disorder clinically characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia (PEO), gastrointestinal dysmotility (often pseudoobstruction), cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction. Mitochondrial DNA abnormalities can include depletion, deletion, and point mutations (Taanman et al., 2009). (603041)

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 1, also known as polip syndrome, is related to mitochondrial neurogastrointestinal encephalomyopathy and mitochondrial neurogastrointestinal encephalopathy disease, and has symptoms including vomiting, abdominal pain and intermittent diarrhea. An important gene associated with Mitochondrial Dna Depletion Syndrome 1 is TYMP (Thymidine Phosphorylase), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and TP53 Regulates Metabolic Genes. The drugs Fludarabine and rituximab have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and eye, and related phenotypes are ptosis and constipation

Disease Ontology : 12 A mitochondrial metabolism disorder that has material basis in autosomal recessive homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene on chromosome 22q13 and is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction.

UniProtKB/Swiss-Prot : 75 Mitochondrial DNA depletion syndrome 1, MNGIE type: A multisystem disease associated with mitochondrial dysfunction. It is clinically characterized by onset between the second and fifth decades of life, ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility (often pseudoobstruction), diffuse leukoencephalopathy, cachexia, peripheral neuropathy, and myopathy.

Related Diseases for Mitochondrial Dna Depletion Syndrome 1

Diseases in the Mitochondrial Dna Deletion Syndromes family:

Mitochondrial Dna Depletion Syndrome 4a Mitochondrial Dna Depletion Syndrome 9
Mitochondrial Dna Depletion Syndrome 3 Mitochondrial Dna Depletion Syndrome 6
Mitochondrial Dna Depletion Syndrome 7 Mitochondrial Dna Depletion Syndrome 1
Mitochondrial Dna Depletion Syndrome 2 Mitochondrial Dna Depletion Syndrome 5
Mitochondrial Dna Depletion Syndrome 8a Mitochondrial Dna Depletion Syndrome 4b
Mitochondrial Dna Depletion Syndrome 11 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive
Mitochondrial Dna Depletion Syndrome 13 Mitochondrial Dna Depletion Syndrome 14
Mitochondrial Dna Depletion Syndrome 15 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant
Mitochondrial Dna Depletion Syndrome 12a Mitochondrial Dna Depletion Syndrome 12b
Mitochondrial Dna Depletion Syndrome Rrm2b-Related Mitochondrial Dna Depletion Syndrome

Diseases related to Mitochondrial Dna Depletion Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 mitochondrial neurogastrointestinal encephalomyopathy 33.9 MT-TK POLG SCO2 TYMP
2 mitochondrial neurogastrointestinal encephalopathy disease 32.4 POLG TYMP
3 mitochondrial dna depletion syndrome 4a 31.7 POLG TYMP
4 mitochondrial dna depletion syndrome 4b 31.6 MIR6766 POLG
5 chronic progressive external ophthalmoplegia 30.5 POLG TYMP
6 mitochondrial dna depletion syndrome 9 11.0
7 mitochondrial dna depletion syndrome 3 11.0
8 mitochondrial dna depletion syndrome 6 11.0
9 mitochondrial dna depletion syndrome 7 11.0
10 mitochondrial dna depletion syndrome 2 11.0
11 mitochondrial dna depletion syndrome 5 11.0
12 mitochondrial dna depletion syndrome 8a 11.0
13 mitochondrial dna depletion syndrome 11 11.0
14 mitochondrial dna depletion syndrome 12b , autosomal recessive 11.0
15 mitochondrial dna depletion syndrome 13 11.0
16 mitochondrial dna depletion syndrome 12a , autosomal dominant 11.0
17 anorexia nervosa 10.4
18 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
19 hypogonadism 10.4
20 trigeminal neuralgia 10.2
21 celiac disease 1 10.2
22 crohn's disease 10.2
23 endocarditis 10.2
24 polyradiculoneuropathy 10.2
25 chronic inflammatory demyelinating polyradiculoneuropathy 10.2
26 diverticulitis 10.2
27 eating disorder 10.2
28 brainstem auditory evoked responses 10.2
29 refractory celiac disease 10.2
30 myopia 6 10.2 NCAPH2 SCO2
31 myoclonic epilepsy myopathy sensory ataxia 10.2 MIR6766 POLG
32 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 10.1 MIR6766 POLG
33 3-methylglutaconic aciduria, type v 10.1 POLG TYMP
34 cardioencephalomyopathy 10.1 NCAPH2 SCO2 TYMP
35 ocular motility disease 10.1 POLG TYMP
36 periodic paralysis with later-onset distal motor neuropathy 10.0 MT-ATP6 MT-ATP8
37 polyneuropathy 10.0
38 intestinal pseudo-obstruction 10.0
39 isolated atp synthase deficiency 10.0 MT-ATP6 MT-ATP8
40 diphyllobothriasis 10.0 MT-ATP8 MT-ND3
41 autosomal dominant progressive external ophthalmoplegia 10.0 MIR6766 POLG
42 myoclonic epilepsy associated with ragged-red fibers 9.9 MT-TK POLG
43 lactic acidosis 9.9 MT-ATP6 MT-CO3 POLG
44 sideroblastic anemia acquired 9.8 MT-ATP6 MT-ATP8 MT-CO2
45 gaucher disease, type iii 9.8 MT-CO2 MT-CO3
46 leber hereditary optic neuropathy 9.8 MT-ATP6 MT-CO3 MT-ND3
47 mitochondrial complex iv deficiency 9.7 MT-CO2 MT-CO3 SCO2
48 kearns-sayre syndrome 9.6 MT-ATP6 MT-ATP8 MT-CO2 POLG TYMP
49 striatonigral degeneration, infantile, mitochondrial 9.6 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3
50 striatonigral degeneration, infantile 9.6 MT-ATP6 MT-ATP8 MT-CO3 MT-ND3

Graphical network of the top 20 diseases related to Mitochondrial Dna Depletion Syndrome 1:



Diseases related to Mitochondrial Dna Depletion Syndrome 1

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
external ophthalmoplegia, progressive (peo)

Neurologic Peripheral Nervous System:
peripheral neuropathy
areflexia
loss of distal sensation
sensorimotor axonal/demyelinating neuropathy

Muscle Soft Tissue:
mitochondrial myopathy
ragged red fibers seen on muscle biopsy
distal limb muscle weakness (less common)
multiple mitochondrial dna (mtdna) deletions seen on muscle biopsy
distal limb muscle atrophy (less common)
more
Head And Neck Ears:
hearing loss, sensorineural

Growth Weight:
weight loss, progressive

Abdomen Gastrointestinal:
malabsorption
vomiting
abdominal pain
gastroparesis
intermittent diarrhea
more
Metabolic Features:
lactic acidosis

Neurologic Central Nervous System:
leukoencephalopathy
hypodensity of cerebral white matter seen on mri

Growth Other:
thin body habitus
marked cachexia

Laboratory Abnormalities:
decreased activity of thymidine phosphorylase
increased serum thymidine
increased serum deoxyuridine


Clinical features from OMIM:

603041

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 1:

32 (show all 26)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 constipation 32 HP:0002019
3 malabsorption 32 HP:0002024
4 sensorineural hearing impairment 32 HP:0000407
5 vomiting 32 HP:0002013
6 abdominal pain 32 HP:0002027
7 gastroparesis 32 HP:0002578
8 lactic acidosis 32 HP:0003128
9 ragged-red muscle fibers 32 HP:0003200
10 mitochondrial myopathy 32 HP:0003737
11 cachexia 32 HP:0004326
12 progressive external ophthalmoplegia 32 HP:0000590
13 slender build 32 HP:0001533
14 areflexia 32 HP:0001284
15 distal muscle weakness 32 HP:0002460
16 hypointensity of cerebral white matter on mri 32 HP:0007103
17 distal amyotrophy 32 HP:0003693
18 distal sensory impairment 32 HP:0002936
19 intermittent diarrhea 32 HP:0002254
20 cytochrome c oxidase-negative muscle fibers 32 HP:0003688
21 malnutrition 32 HP:0004395
22 gastrointestinal dysmotility 32 HP:0002579
23 leukoencephalopathy 32 HP:0002352
24 intestinal perforation 32 HP:0031368
25 subsarcolemmal accumulations of abnormally shaped mitochondria 32 HP:0003548
26 multiple mitochondrial dna deletions 32 HP:0003689

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 1:


vomiting, abdominal pain, intermittent diarrhea, chronic constipation

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 1

Drugs for Mitochondrial Dna Depletion Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
2
rituximab Approved Phase 2 174722-31-7 10201696
3
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
4
alemtuzumab Approved, Investigational Phase 2 216503-57-0
5
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
6
Busulfan Approved, Investigational Phase 2 55-98-1 2478
7
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
8
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
9
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
10 Tocotrienol Investigational Phase 2 6829-55-6
11 Tocopherols Phase 2
12 Antilymphocyte Serum Phase 2
13 Vitamins Phase 2
14 Antimetabolites Phase 2
15 Immunosuppressive Agents Phase 2
16 Antimetabolites, Antineoplastic Phase 2
17 Tocotrienols Phase 2
18 N-monoacetylcystine Phase 2
19 Alpha-lipoic Acid Phase 2
20 Antineoplastic Agents, Alkylating Phase 2
21 Alkylating Agents Phase 2
22 Immunologic Factors Phase 2
23 Thioctic Acid Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)

Search NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 1

Genetic Tests for Mitochondrial Dna Depletion Syndrome 1

Genetic tests related to Mitochondrial Dna Depletion Syndrome 1:

# Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome 1 (mngie Type) 29 POLG TYMP

Anatomical Context for Mitochondrial Dna Depletion Syndrome 1

MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 1:

41
Liver, Bone, Eye

Publications for Mitochondrial Dna Depletion Syndrome 1

Articles related to Mitochondrial Dna Depletion Syndrome 1:

# Title Authors Year
1
Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction: POLIP syndrome. ( 2173474 )
1990

Variations for Mitochondrial Dna Depletion Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 1:

75
# Symbol AA change Variation ID SNP ID
1 TYMP p.Gly145Arg VAR_007643 rs121913037
2 TYMP p.Gly153Ser VAR_007644 rs121913038
3 TYMP p.Lys222Arg VAR_007645 rs149977726
4 TYMP p.Glu289Ala VAR_007646 rs121913036
5 TYMP p.Arg44Gln VAR_016777 rs28931613

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 1:

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 Dna Depletion Syndrome 1

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 1.

Pathways for Mitochondrial Dna Depletion Syndrome 1

GO Terms for Mitochondrial Dna Depletion Syndrome 1

Cellular components related to Mitochondrial Dna Depletion Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.73 MT-ATP8 MT-CO2 MT-CO3 MT-ND3 POLG SCO2
2 respiratory chain GO:0070469 9.4 MT-CO2 MT-ND3
3 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.37 MT-ATP6 MT-ATP8
4 mitochondrial respiratory chain complex IV GO:0005751 9.32 MT-CO2 MT-CO3
5 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.16 MT-ATP6 MT-ATP8
6 mitochondrial inner membrane GO:0005743 9.1 MT-ATP6 MT-ATP8 MT-CO2 MT-CO3 MT-ND3 SCO2
7 respiratory chain complex IV GO:0045277 8.96 MT-CO2 MT-CO3

Biological processes related to Mitochondrial Dna Depletion Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cristae formation GO:0042407 9.4 MT-ATP6 MT-ATP8
2 ATP biosynthetic process GO:0006754 9.37 MT-ATP6 MT-ATP8
3 ATP synthesis coupled proton transport GO:0015986 9.32 MT-ATP6 MT-ATP8
4 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.26 MT-ATP6 MT-ATP8
5 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.16 MT-CO2 MT-CO3
6 response to hyperoxia GO:0055093 8.96 MT-ATP6 POLG
7 respiratory chain complex IV assembly GO:0008535 8.62 MT-CO3 SCO2

Molecular functions related to Mitochondrial Dna Depletion Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 9.16 MT-CO2 SCO2
2 proton transmembrane transporter activity GO:0015078 8.96 MT-ATP6 MT-ATP8
3 cytochrome-c oxidase activity GO:0004129 8.62 MT-CO2 MT-CO3

Sources for Mitochondrial Dna Depletion Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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