MCID: MTC010
MIFTS: 46

Mitochondrial Dna Depletion Syndrome

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

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome:

Name: Mitochondrial Dna Depletion Syndrome 12 20 58 36 29 6 15 39
Mtdna Depletion Syndrome 12 20 58

Characteristics:

Orphanet epidemiological data:

58
mitochondrial dna depletion syndrome
Age of onset: All ages;

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0070329
KEGG 36 H00469
UMLS via Orphanet 71 C0342782
Orphanet 58 ORPHA35698

Summaries for Mitochondrial Dna Depletion Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 35698 Definition The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy ). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.

MalaCards based summary : Mitochondrial Dna Depletion Syndrome, also known as mtdna depletion syndrome, is related to mitochondrial dna depletion syndrome 8a and mitochondrial dna depletion syndrome 2. An important gene associated with Mitochondrial Dna Depletion Syndrome is FBXL4 (F-Box And Leucine Rich Repeat Protein 4), and among its related pathways/superpathways are Pyrimidine metabolism and Purine metabolism. Affiliated tissues include liver, eye and skeletal muscle, and related phenotypes are cellular and cardiovascular system

Disease Ontology : 12 A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs.

KEGG : 36 Mitochondrial DNA depletion syndromes (MDSs) are a group of heterogeneous autosomal recessive disorders associated with a severe reduction in mitochondrial DNA in the affected tissues. The manifestations vary from tissue-specific mtDNA depletion to wide-spread multisystemic disorders. Some genes are known to underlie this group of disorders, and many disease genes are still unidentified. However, the disease mechanisms seem to be intimately associated with mtDNA replication and nucleotide pool regulation.

Wikipedia : 73 Mitochondrial DNA depletion syndrome (MDS or MDDS), or Alper's disease, is any of a group of autosomal... more...

Related Diseases for Mitochondrial Dna Depletion Syndrome

Diseases in the Mitochondrial Dna Depletion Syndrome 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 16 Mitochondrial Dna Depletion Syndrome 17
Mitochondrial Dna Depletion Syndrome 18 Mitochondrial Dna Depletion Syndrome 19
Mitochondrial Dna Depletion Syndrome 12a Mitochondrial Dna Depletion Syndrome 12b
Mitochondrial Dna Deletion Syndromes Multiple Mitochondrial Dna Deletion Syndrome

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

(show top 50) (show all 130)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 8a 33.7 RRM2B MGME1
2 mitochondrial dna depletion syndrome 2 33.6 TK2 SCO2 DGUOK
3 mitochondrial dna depletion syndrome 11 33.4 MPV17 MGME1
4 mitochondrial dna depletion syndrome 14 33.3 OPA1 MGME1
5 mitochondrial dna depletion syndrome 5 33.3 SUCLG1 SUCLA2 POLG MPV17 DGUOK
6 mitochondrial dna depletion syndrome 1 33.1 TYMP SCO2 POLG MPV17 MGME1
7 mitochondrial dna depletion syndrome 12a 33.0 SLC25A4 POLG
8 mitochondrial dna depletion syndrome 16 33.0 POLG2 MILR1
9 mitochondrial dna depletion syndrome 6 32.9 TWNK SUCLG1 SUCLA2 RRM2B POLG2 POLG
10 mitochondrial dna depletion syndrome 12b 32.9 SLC25A4 POLG
11 mitochondrial dna depletion syndrome 3 32.9 TWNK TK2 TFAM SCO2 POLG2 POLG
12 mitochondrial dna depletion syndrome, encephalomyopathic form 32.7 SUCLG1 SUCLA2 RRM2B
13 mitochondrial dna depletion syndrome 4b 32.4 TYMP TWNK SUCLG1 SLC25A4 SCO2 RRM2B
14 mitochondrial dna depletion syndrome 7 32.4 TWNK SUCLG1 SUCLA2 SLC25A4 RRM2B POLG2
15 mitochondrial dna depletion syndrome 4a 31.9 TYMP TWNK TFAM SUCLG1 SUCLA2 SLC25A4
16 coenzyme q10 deficiency disease 30.5 TK2 POLG
17 ptosis 30.4 TYMP TWNK RRM2B POLG OPA1
18 lactic acidosis 30.3 SUCLG1 SLC25A4 SCO2 RRM2B POLG2 POLG
19 mitochondrial neurogastrointestinal encephalomyopathy 30.3 TYMP SCO2 RRM2B POLG
20 metabolic acidosis 30.2 RRM2B POLG2 MPV17
21 acute liver failure 30.2 POLG2 POLG MILR1
22 mitochondrial encephalomyopathy 29.8 TWNK SUCLG1 SUCLA2 POLG OPA1 FBXL4
23 mitochondrial disorders 29.6 TYMP TWNK TK2 TFAM SLC25A4 SCO2
24 myopathy 29.5 TYMP TWNK TK2 TFAM SLC25A4 RRM2B
25 mitochondrial metabolism disease 29.5 TWNK SUCLG1 SUCLA2 SLC25A4 SCO2 RRM2B
26 mitochondrial myopathy 29.3 TYMP TWNK TK2 TFAM SUCLA2 SLC25A4
27 kearns-sayre syndrome 29.1 TYMP TWNK TFAM SUCLG1 SUCLA2 SLC25A4
28 3-methylglutaconic aciduria, type iii 28.8 TYMP TWNK SUCLG1 SUCLA2 SLC25A4 SCO2
29 mitochondrial dna depletion syndrome 13 12.1
30 mitochondrial dna depletion syndrome 9 12.1
31 mitochondrial dna depletion syndrome 12b , autosomal recessive 11.9
32 mitochondrial dna depletion syndrome 12a , autosomal dominant 11.9
33 mitochondrial dna depletion syndrome 15 11.9
34 sengers syndrome 11.8
35 mitochondrial dna depletion syndrome 18 11.8
36 mitochondrial dna depletion syndrome 17 11.8
37 mitochondrial dna depletion syndrome 19 11.7
38 mpv17-related mitochondrial dna maintenance defect 11.5
39 suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 11.5
40 tk2-related mitochondrial dna maintenance defect, myopathic form 11.4
41 sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 11.3
42 mohr-tranebjaerg syndrome 11.2
43 hypotonia 10.6
44 liver disease 10.5
45 hypoglycemia 10.5
46 camptocormism 10.4 RRM2B POLG
47 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 10.4 TK2 POLG
48 polg-related disorders 10.4 TWNK POLG
49 myotonic cataract 10.4 TWNK POLG
50 ataxia neuropathy spectrum 10.3 TWNK POLG

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



Diseases related to Mitochondrial Dna Depletion Syndrome

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome

MGI Mouse Phenotypes related to Mitochondrial Dna Depletion Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.17 DGUOK MGME1 MPV17 OPA1 POLG POLG2
2 cardiovascular system MP:0005385 10.11 DGUOK MPV17 MRM2 OPA1 POLG RRM2B
3 adipose tissue MP:0005375 10.06 DGUOK MGME1 MPV17 OPA1 POLG RRM2B
4 growth/size/body region MP:0005378 10.03 DGUOK MGME1 MPV17 OPA1 POLG RRM2B
5 homeostasis/metabolism MP:0005376 10 DGUOK MPV17 MRM2 OPA1 POLG POLG2
6 mortality/aging MP:0010768 9.83 AGK DGUOK MPV17 MRM2 OPA1 POLG
7 muscle MP:0005369 9.23 MPV17 OPA1 POLG RRM2B SCO2 SLC25A4

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Deoxythymidine and Deoxycytidine Treatment for Thymidine Kinase 2 (TK2) Deficiency Enrolling by invitation NCT03639701 Phase 1, Phase 2 Thymidine

Search NIH Clinical Center for Mitochondrial Dna Depletion Syndrome

Genetic Tests for Mitochondrial Dna Depletion Syndrome

Genetic tests related to Mitochondrial Dna Depletion Syndrome:

# Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome 29

Anatomical Context for Mitochondrial Dna Depletion Syndrome

MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome:

40
Liver, Eye, Skeletal Muscle, Cortex, Heart, Pancreas, Brain

Publications for Mitochondrial Dna Depletion Syndrome

Articles related to Mitochondrial Dna Depletion Syndrome:

(show top 50) (show all 232)
# Title Authors PMID Year
1
Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder. 6
27987238 2017
2
Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis. 6
28337550 2017
3
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 6
27290639 2016
4
Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene. 6
27099744 2016
5
The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replication. 6
26095671 2015
6
Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus. 6
25446393 2015
7
POLG1-related levodopa-responsive parkinsonism. 6
25203713 2014
8
Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes. 6
24508722 2014
9
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. 6
23993193 2013
10
A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations. 6
22357363 2012
11
Alpers syndrome with mutations in POLG: clinical and investigative features. 6
22000311 2011
12
Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism. 6
21301859 2011
13
Antimutator alleles of yeast DNA polymerase gamma modulate the balance between DNA synthesis and excision. 6
22114710 2011
14
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. 6
18487244 2008
15
New mutations in TK2 gene associated with mitochondrial DNA depletion. 6
16504786 2006
16
Mitochondrial DNA Depletion Syndrome: Mimicker for Hereditary Tyrosinemia. 61
33242146 2021
17
Mitochondrial DNA-depleter mouse as a model to study human pigmentary skin disorders. 61
33448673 2021
18
The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes from DGUOK-deficient rats. 61
33368311 2021
19
Mitochondrial DNA depletion syndrome in a newborn with Jaundice Caused by DGUOK mutation and complete uniparental disomy of chromosome 2. 61
32482602 2020
20
A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome. 61
32749073 2020
21
Novel homozygous mutation in the FBXL4 gene is associated with mitochondria DNA depletion syndrome-13. 61
32559514 2020
22
Mitochondrial spongiotic brain disease: astrocytic stress and harmful rapamycin and ketosis effect. 61
32737078 2020
23
Reflections on Charlie Gard and the Best Interests Standard From Both Sides of the Atlantic Ocean. 61
32737234 2020
24
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation. 61
32703289 2020
25
Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene. 61
32904881 2020
26
Generation of an induced pluripotent stem cell line SHCDNi001-A from a one-year-old Chinese girl with mitochondrial DNA depletion syndrome 13. 61
32416579 2020
27
[Identification of a novel DGUOK variant in a Chinese family affected with mitochondrial DNA depletion syndrome]. 61
32219824 2020
28
[DGUOK-related mitochondrial DNA depletion syndrome: a case report and literature review]. 61
32204766 2020
29
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report. 61
32234020 2020
30
Fulminant Necrotizing Enterocolitis and Multiple Organ Dysfunction in a Toddler with Mitochondrial DNA Depletion Syndrome-13. 61
31984159 2020
31
Different clinical presentation in a patient with two novel pathogenic variants of the FBXL4 gene. 61
32779419 2020
32
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency. 61
31462754 2020
33
MPV17 does not control cancer cell proliferation. 61
32155188 2020
34
Homozygous Mutation in TWNK Cases Ataxia, Sensorineural Hearing Loss and Optic Nerve Atrophy. 61
31823625 2019
35
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. 61
31463572 2019
36
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]. 61
31665838 2019
37
[Mitochondrial DNA depletion syndrome-13: a case with an unusual onset]. 61
31713230 2019
38
Characterization of the C584R variant in the mtDNA depletion syndrome gene FBXL4, reveals a novel role for FBXL4 as a regulator of mitochondrial fusion. 61
31442532 2019
39
Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series. 61
31664948 2019
40
Severe mtDNA depletion and dependency on catabolic lipid metabolism in DGUOK knockout mice. 61
31127938 2019
41
Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome. 61
31271740 2019
42
Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report. 61
31455269 2019
43
Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities. 61
30771478 2019
44
Metabolic liver diseases presenting with neonatal cholestasis: at the crossroad between old and new paradigms. 61
30693370 2019
45
Twinkle-Associated Mitochondrial DNA Depletion. 61
30391088 2019
46
FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review. 61
30804983 2019
47
Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome. 61
31969900 2019
48
MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy. 61
30298599 2019
49
The mitochondrial inner membrane protein MPV17 prevents uracil accumulation in mitochondrial DNA. 61
30385507 2018
50
A Screen Using iPSC-Derived Hepatocytes Reveals NAD+ as a Potential Treatment for mtDNA Depletion Syndrome. 61
30404003 2018

Variations for Mitochondrial Dna Depletion Syndrome

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome:

6 (show top 50) (show all 69)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FBXL4 NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter) SNV Pathogenic 66091 rs201889294 GRCh37: 6:99347158-99347158
GRCh38: 6:98899282-98899282
2 TK2 NM_004614.5(TK2):c.416C>T (p.Ala139Val) SNV Likely pathogenic 38990 rs281865494 GRCh37: 16:66562930-66562930
GRCh38: 16:66529027-66529027
3 POLG NM_002693.3(POLG):c.830A>T (p.His277Leu) SNV Likely pathogenic 206583 rs138929605 GRCh37: 15:89873337-89873337
GRCh38: 15:89330106-89330106
4 FBXL4 NM_001278716.2(FBXL4):c.1012G>T (p.Glu338Ter) SNV Likely pathogenic 666968 rs1582402094 GRCh37: 6:99353393-99353393
GRCh38: 6:98905517-98905517
5 SUCLG1 NM_003849.4(SUCLG1):c.202-4T>C SNV Uncertain significance 139369 rs141973418 GRCh37: 2:84670528-84670528
GRCh38: 2:84443404-84443404
6 MPV17 NM_002437.5(MPV17):c.27G>T (p.Arg9=) SNV Uncertain significance 195172 rs35244252 GRCh37: 2:27545358-27545358
GRCh38: 2:27322491-27322491
7 TK2 NM_004614.5(TK2):c.*1739_*1740insC Insertion Uncertain significance 320133 rs886052197 GRCh37: 16:66544131-66544132
GRCh38: 16:66510228-66510229
8 MPV17 NM_002437.5(MPV17):c.164T>C (p.Val55Ala) SNV Uncertain significance 335527 rs575558175 GRCh37: 2:27535883-27535883
GRCh38: 2:27313016-27313016
9 TK2 NM_004614.5(TK2):c.*1758_*1759insTT Insertion Uncertain significance 320130 rs886052195 GRCh37: 16:66544112-66544113
GRCh38: 16:66510209-66510210
10 POLG NM_002693.2(POLG):c.641C>T (p.Ala214Val) SNV Uncertain significance 405572 rs948866053 GRCh37: 15:89876345-89876345
GRCh38: 15:89333114-89333114
11 POLG NM_002693.2(POLG):c.391T>C (p.Tyr131His) SNV Uncertain significance 206492 rs562847013 GRCh37: 15:89876595-89876595
GRCh38: 15:89333364-89333364
12 SUCLG1 NM_003849.4(SUCLG1):c.98-15_98-14insAACC Insertion Uncertain significance 337163 rs886056352 GRCh37: 2:84676890-84676891
GRCh38: 2:84449766-84449767
13 SUCLG1 NM_003849.4(SUCLG1):c.201+8T>A SNV Uncertain significance 337159 rs764185628 GRCh37: 2:84676765-84676765
GRCh38: 2:84449641-84449641
14 TK2 NM_004614.5(TK2):c.*1756_*1757dup Duplication Uncertain significance 320132 rs34931863 GRCh37: 16:66544113-66544114
GRCh38: 16:66510210-66510211
15 SUCLG1 NM_003849.3(SUCLG1):c.-71G>T SNV Uncertain significance 337166 rs886056353 GRCh37: 2:84686464-84686464
GRCh38: 2:84459340-84459340
16 SUCLG1 NM_003849.4(SUCLG1):c.*38C>T SNV Uncertain significance 337151 rs369617521 GRCh37: 2:84650832-84650832
GRCh38: 2:84423708-84423708
17 SUCLG1 NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) SNV Uncertain significance 203970 rs143030960 GRCh37: 2:84670490-84670490
GRCh38: 2:84443366-84443366
18 SUCLG1 NM_003849.4(SUCLG1):c.590-6G>A SNV Uncertain significance 337155 rs200107730 GRCh37: 2:84660565-84660565
GRCh38: 2:84433441-84433441
19 SUCLA2 NM_003850.2(SUCLA2):c.*297_*299delTTC Microsatellite Uncertain significance 312260 rs886050259 GRCh37: 13:48517207-48517209
GRCh38: 13:47943072-47943074
20 SUCLG1 NM_003849.3(SUCLG1):c.-150T>A SNV Uncertain significance 337169 rs886056354 GRCh37: 2:84686543-84686543
GRCh38: 2:84459419-84459419
21 MPV17 NM_002437.5(MPV17):c.*194G>A SNV Uncertain significance 335522 rs886055895 GRCh37: 2:27532586-27532586
GRCh38: 2:27309718-27309718
22 DGUOK NM_080916.2(DGUOK):c.-60_-57dupGCGA Duplication Uncertain significance 337040 rs567251538 GRCh37: 2:74153976-74153977
GRCh38: 2:73926849-73926850
23 DGUOK NM_080918.3(DGUOK):c.444-907AAGT[3] Microsatellite Uncertain significance 337051 GRCh37: 2:74184365-74184366
GRCh38: 2:73957238-73957239
24 SUCLA2 NM_003850.2(SUCLA2):c.*714dup Duplication Uncertain significance 312252 rs563064046 GRCh37: 13:48516791-48516792
GRCh38: 13:47942656-47942657
25 SUCLG1 NM_003849.3(SUCLG1):c.-39C>G SNV Uncertain significance 337164 rs144946502 GRCh37: 2:84686432-84686432
GRCh38: 2:84459308-84459308
26 TWNK NM_021830.5(TWNK):c.274G>A (p.Gly92Ser) SNV Uncertain significance 298496 rs886046630 GRCh37: 10:102748241-102748241
GRCh38: 10:100988484-100988484
27 SUCLG1 NM_003849.3(SUCLG1):c.-107A>G SNV Uncertain significance 337167 rs140936198 GRCh37: 2:84686500-84686500
GRCh38: 2:84459376-84459376
28 TK2 NM_004614.5(TK2):c.*1591dup Duplication Uncertain significance 320139 rs886052201 GRCh37: 16:66544279-66544280
GRCh38: 16:66510376-66510377
29 RRM2B NM_001172477.1(RRM2B):c.*2328A>T SNV Uncertain significance 361147 rs886062565 GRCh37: 8:103218033-103218033
GRCh38: 8:102205805-102205805
30 SUCLG1 NM_003849.4(SUCLG1):c.1028G>C (p.Arg343Thr) SNV Uncertain significance 337153 rs748995693 GRCh37: 2:84650883-84650883
GRCh38: 2:84423759-84423759
31 SUCLG1 NM_003849.4(SUCLG1):c.*13del Deletion Uncertain significance 337152 rs527774382 GRCh37: 2:84650857-84650857
GRCh38: 2:84423733-84423733
32 SUCLG1 NM_003849.4(SUCLG1):c.900C>T (p.Ala300=) SNV Uncertain significance 203967 rs113840224 GRCh37: 2:84652653-84652653
GRCh38: 2:84425529-84425529
33 RRM2B NM_001172477.1(RRM2B):c.*2613del Deletion Uncertain significance 361143 rs886062563 GRCh37: 8:103217748-103217748
GRCh38: 8:102205520-102205520
34 RRM2B NM_001172477.1(RRM2B):c.*74del Deletion Uncertain significance 361173 rs886062569 GRCh37: 8:103220287-103220287
GRCh38: 8:102208059-102208059
35 SUCLG1 NM_003849.4(SUCLG1):c.101C>T (p.Pro34Leu) SNV Uncertain significance 337160 rs149809280 GRCh37: 2:84676873-84676873
GRCh38: 2:84449749-84449749
36 MPV17 NM_002437.5(MPV17):c.*80C>T SNV Uncertain significance 335524 rs200529035 GRCh37: 2:27532700-27532700
GRCh38: 2:27309832-27309832
37 TWNK NM_021830.5(TWNK):c.-105T>C SNV Uncertain significance 298493 rs886046629 GRCh37: 10:102747863-102747863
GRCh38: 10:100988106-100988106
38 SUCLG1 NM_003849.4(SUCLG1):c.98-10_98-8del Deletion Uncertain significance 337161 rs886056350 GRCh37: 2:84676884-84676886
GRCh38: 2:84449760-84449762
39 SUCLG1 NM_003849.4(SUCLG1):c.345T>C (p.Ala115=) SNV Uncertain significance 337157 rs374594774 GRCh37: 2:84668557-84668557
GRCh38: 2:84441433-84441433
40 SUCLA2 NM_003850.2(SUCLA2):c.*195A>G SNV Uncertain significance 312264 rs886050260 GRCh37: 13:48517311-48517311
GRCh38: 13:47943176-47943176
41 TK2 NM_004614.5(TK2):c.*1758del Deletion Uncertain significance 320131 rs886052196 GRCh37: 16:66544113-66544113
GRCh38: 16:66510210-66510210
42 DGUOK NM_080916.2(DGUOK):c.-54C>A SNV Uncertain significance 337041 rs753666732 GRCh37: 2:74153984-74153984
GRCh38: 2:73926857-73926857
43 TK2 NM_004614.5(TK2):c.*2122G>A SNV Uncertain significance 320128 rs193271947 GRCh37: 16:66543749-66543749
GRCh38: 16:66509846-66509846
44 TWNK NM_021830.5(TWNK):c.*803A>G SNV Uncertain significance 298521 rs886046640 GRCh37: 10:102754070-102754070
GRCh38: 10:100994313-100994313
45 DGUOK-AS1 , DGUOK NM_080916.3(DGUOK):c.*206_*210dup Duplication Uncertain significance 337053 rs554820333 GRCh37: 2:74186065-74186066
GRCh38: 2:73958938-73958939
46 SUCLG1 NM_003849.4(SUCLG1):c.242A>G (p.Lys81Arg) SNV Uncertain significance 337158 rs564792232 GRCh37: 2:84670484-84670484
GRCh38: 2:84443360-84443360
47 SUCLG1 NM_003849.4(SUCLG1):c.959G>A (p.Ser320Asn) SNV Uncertain significance 337154 rs146834097 GRCh37: 2:84652594-84652594
GRCh38: 2:84425470-84425470
48 SUCLG1 NM_003849.4(SUCLG1):c.110G>C (p.Gly37Ala) SNV Uncertain significance 203968 rs369610897 GRCh37: 2:84676864-84676864
GRCh38: 2:84449740-84449740
49 DGUOK NM_080916.3(DGUOK):c.592-9del Deletion Uncertain significance 337048 rs749290011 GRCh37: 2:74184243-74184243
GRCh38: 2:73957116-73957116
50 SUCLG1 NM_003849.4(SUCLG1):c.*218A>G SNV Uncertain significance 337147 rs570310549 GRCh37: 2:84650652-84650652
GRCh38: 2:84423528-84423528

Expression for Mitochondrial Dna Depletion Syndrome

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

Pathways for Mitochondrial Dna Depletion Syndrome

Pathways related to Mitochondrial Dna Depletion Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Pyrimidine metabolism hsa00240
2 Purine metabolism hsa00230
3 Citrate cycle (TCA cycle) hsa00020

GO Terms for Mitochondrial Dna Depletion Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.73 SLC25A4 SLC25A21 SCO2 OPA1 MPV17 AGK
2 mitochondrial matrix GO:0005759 9.61 TWNK TK2 TFAM SUCLG1 SUCLA2 SCO2
3 mitochondrion GO:0005739 9.58 TWNK TK2 TFAM SUCLG1 SUCLA2 SLC25A4
4 mitochondrial intermembrane space GO:0005758 9.54 OPA1 FBXL4 AGK
5 mitochondrial nucleoid GO:0042645 9.46 TWNK TFAM POLG2 POLG
6 gamma DNA polymerase complex GO:0005760 9.32 POLG2 POLG

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.62 TWNK RRM2B POLG2 POLG
2 cellular response to glucose stimulus GO:0071333 9.58 TWNK POLG OPA1
3 DNA-dependent DNA replication GO:0006261 9.51 POLG2 POLG
4 mitochondrion morphogenesis GO:0070584 9.49 POLG2 OPA1
5 respiratory electron transport chain GO:0022904 9.48 SCO2 POLG2
6 pyrimidine nucleoside salvage GO:0043097 9.46 TYMP TK2
7 mitochondrion organization GO:0007005 9.46 TWNK TFAM POLG2 OPA1
8 mitochondrial transcription GO:0006390 9.43 TWNK TFAM
9 DNA biosynthetic process GO:0071897 9.43 TK2 POLG2 POLG
10 deoxyribonucleoside monophosphate biosynthetic process GO:0009157 9.37 TK2 DGUOK
11 mitochondrial genome maintenance GO:0000002 9.35 TYMP SLC25A4 OPA1 MPV17 MGME1
12 mitochondrial DNA replication GO:0006264 9.02 TWNK RRM2B POLG2 POLG MGME1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-directed DNA polymerase activity GO:0003887 9.26 POLG2 POLG
2 deoxynucleoside kinase activity GO:0019136 9.16 TK2 DGUOK
3 succinate-CoA ligase (GDP-forming) activity GO:0004776 8.96 SUCLG1 SUCLA2
4 succinate-CoA ligase (ADP-forming) activity GO:0004775 8.62 SUCLG1 SUCLA2

Sources for Mitochondrial Dna Depletion Syndrome

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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