MCID: MTC061
MIFTS: 44

Mitochondrial Dna Depletion Syndrome 1

Categories: Genetic diseases, Metabolic diseases, Gastrointestinal diseases, Neuronal 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 abdominal pain, vomiting and intermittent diarrhea. An important gene associated with Mitochondrial Dna Depletion Syndrome 1 is TYMP (Thymidine Phosphorylase), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Acetylcysteine and alemtuzumab have been mentioned in the context of this disorder. Related phenotypes are ptosis and constipation

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

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 mitochondrial neurogastrointestinal encephalomyopathy 34.0 MT-TK POLG TYMP
2 mitochondrial neurogastrointestinal encephalopathy disease 32.9 POLG TYMP
3 mitochondrial dna depletion syndrome 4a 31.9 POLG TYMP
4 mitochondrial dna depletion syndrome 4b 31.9 MIR6766 POLG
5 chronic progressive external ophthalmoplegia 30.2 MT-TK POLG TYMP
6 mitochondrial disorders 26.5 MT-ATP6 MT-CO2 MT-ND3 MT-TK POLG SCO2
7 encephalomyopathy 11.0
8 mitochondrial dna depletion syndrome 9 10.8
9 mitochondrial dna depletion syndrome 3 10.8
10 mitochondrial dna depletion syndrome 6 10.8
11 mitochondrial dna depletion syndrome 7 10.8
12 mitochondrial dna depletion syndrome 2 10.8
13 mitochondrial dna depletion syndrome 5 10.8
14 mitochondrial dna depletion syndrome 8a 10.8
15 mitochondrial dna depletion syndrome 11 10.8
16 mitochondrial dna depletion syndrome 12b , autosomal recessive 10.8
17 mitochondrial dna depletion syndrome 13 10.8
18 mitochondrial dna depletion syndrome 12a , autosomal dominant 10.8
19 myopia 6 10.6 NCAPH2 SCO2
20 myoclonic epilepsy myopathy sensory ataxia 10.5 MIR6766 POLG
21 camptocormism 10.5 MIR6766 POLG
22 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 10.3 MIR6766 POLG
23 cardioencephalomyopathy 10.3 NCAPH2 SCO2 TYMP
24 paralytic ileus 10.3 MT-TK TYMP
25 anorexia nervosa 10.2
26 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
27 hypogonadism 10.2
28 peritonitis 10.2
29 pearson marrow-pancreas syndrome 10.2 MT-CO2 MT-TK
30 ocular motility disease 10.1 POLG TYMP
31 autosomal dominant progressive external ophthalmoplegia 10.1 MIR6766 POLG
32 neonatal period electroclinical syndrome 10.1 MT-TK POLG
33 3-methylglutaconic aciduria, type v 10.1 MT-TK POLG TYMP
34 trigeminal neuralgia 10.1
35 celiac disease 1 10.1
36 endocarditis 10.1
37 esophagitis 10.1
38 cerebritis 10.1
39 intestinal pseudo-obstruction 10.1
40 polyradiculoneuropathy 10.1
41 chronic inflammatory demyelinating polyradiculoneuropathy 10.1
42 diverticulitis 10.1
43 eating disorder 10.1
44 brainstem auditory evoked responses 10.1
45 refractory celiac disease 10.1
46 periodic paralysis with later-onset distal motor neuropathy 9.8 MT-ATP6 MT-ATP8
47 diphyllobothriasis 9.8 MT-ATP8 MT-ND3
48 isolated atp synthase deficiency 9.7 MT-ATP6 MT-ATP8
49 mitochondrial complex v deficiency 9.6 MT-ATP6 MT-ATP8
50 myoclonic epilepsy associated with ragged-red fibers 9.6 MT-TK POLG

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 24)
# 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 areflexia 32 HP:0001284
14 distal muscle weakness 32 HP:0002460
15 hypointensity of cerebral white matter on mri 32 HP:0007103
16 distal amyotrophy 32 HP:0003693
17 distal sensory impairment 32 HP:0002936
18 intermittent diarrhea 32 HP:0002254
19 malnutrition 32 HP:0004395
20 gastrointestinal dysmotility 32 HP:0002579
21 leukoencephalopathy 32 HP:0002352
22 subsarcolemmal accumulations of abnormally shaped mitochondria 32 HP:0003548
23 cytochrome c oxidase-negative muscle fibers 32 HP:0003688
24 multiple mitochondrial dna deletions 32 HP:0003689

UMLS symptoms related to Mitochondrial Dna Depletion Syndrome 1:


abdominal pain, vomiting, 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 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
2
alemtuzumab Approved, Investigational Phase 2 216503-57-0
3
Busulfan Approved, Investigational Phase 2 55-98-1 2478
4
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
5
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
6
rituximab Approved Phase 2 174722-31-7 10201696
7
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
8
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
9
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
10
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
11 Alkylating Agents Phase 2
12 Antilymphocyte Serum Phase 2
13 Antimetabolites Phase 2
14 Antimetabolites, Antineoplastic Phase 2
15 Antineoplastic Agents, Alkylating Phase 2
16 Immunosuppressive Agents Phase 2
17 N-monoacetylcystine Phase 2
18 Thioctic Acid Phase 2
19 Tocopherols Phase 2
20 Tocotrienols Phase 2
21 Vitamins Phase 2
22 Alpha-lipoic Acid Nutraceutical Phase 2
23 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
24 Ubiquinone

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)
2 A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease Terminated NCT02473445 Phase 2 Cysteamine Bitartrate
3 MNGIE Allogeneic Hematopoietic Stem Cell Transplant Safety Study Recruiting NCT02427178 Phase 1
4 The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE) Recruiting NCT01694953
5 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
6 Tissue Sample Study for Mitochondrial Disorders Enrolling by invitation NCT01803906

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

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 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 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 9.85 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 9.32 MT-ATP6 MT-ATP8
4 mitochondrial respiratory chain complex IV GO:0005751 9.26 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 ATP biosynthetic process GO:0006754 9.4 MT-ATP6 MT-ATP8
2 cristae formation GO:0042407 9.37 MT-ATP6 MT-ATP8
3 ATP synthesis coupled proton transport GO:0015986 9.32 MT-ATP6 MT-ATP8
4 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.26 MT-CO2 MT-CO3
5 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.16 MT-ATP6 MT-ATP8
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
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....