MCID: MTC010
MIFTS: 45

Mitochondrial Dna Depletion Syndrome

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

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome:

Name: Mitochondrial Dna Depletion Syndrome 12 52 58 36 29 6 39
Mtdna Depletion Syndrome 12 52 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 72 C0342782
Orphanet 58 ORPHA35698

Summaries for Mitochondrial Dna Depletion Syndrome

NIH Rare Diseases : 52 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. Visit the Orphanet disease page for more resources.

MalaCards based summary : Mitochondrial Dna Depletion Syndrome, also known as mtdna depletion syndrome, is related to mitochondrial dna depletion syndrome 3 and mitochondrial dna depletion syndrome 9. An important gene associated with Mitochondrial Dna Depletion Syndrome is TK2 (Thymidine Kinase 2), and among its related pathways/superpathways are Pyrimidine metabolism and Purine metabolism. The drug Ubiquinone has been mentioned in the context of this disorder. Affiliated tissues include liver, brain and heart, and related phenotypes are adipose tissue and cellular

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 : 74 Mitochondrial DNA depletion syndrome (MDS or MDDS) is any of a group of autosomal recessive disorders... 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 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 116)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 3 34.6 TWNK TK2
2 mitochondrial dna depletion syndrome 9 34.4 SUCLG1 POLG
3 mitochondrial dna depletion syndrome, encephalomyopathic form 33.3 SUCLG1 SUCLA2 RRM2B
4 mitochondrial dna depletion syndrome 7 32.5 TWNK SUCLG1 RRM2B POLG MPV17
5 mitochondrial neurogastrointestinal encephalomyopathy 30.3 RRM2B POLG
6 mitochondrial disorders 30.0 TWNK RRM2B POLG
7 coenzyme q10 deficiency disease 30.0 TK2 POLG
8 polg-related disorders 29.9 TWNK POLG
9 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 29.8 TWNK POLG
10 lactic acidosis 29.7 SUCLG1 RRM2B POLG FBXL4
11 ptosis 29.7 TWNK RRM2B POLG
12 methylmalonic acidemia 29.6 SUCLG1 SUCLA2
13 autosomal dominant cerebellar ataxia 29.4 TWNK TK2 POLG
14 chronic progressive external ophthalmoplegia 28.7 TWNK RRM2B POLG MPV17
15 kearns-sayre syndrome 27.9 TWNK TK2 SUCLG1 RRM2B POLG MPV17
16 mitochondrial myopathy 27.9 TWNK TK2 RRM2B POLG MPV17 FBXL4
17 mitochondrial encephalomyopathy 27.3 TWNK SUCLG1 SUCLA2 POLG MPV17 FBXL4
18 3-methylglutaconic aciduria, type iii 27.2 TWNK SUCLG1 SUCLA2 RRM2B POLG MPV17
19 mitochondrial metabolism disease 26.8 TWNK TK2 SUCLG1 SUCLA2 RRM2B POLG
20 mitochondrial dna depletion syndrome 5 13.1
21 mitochondrial dna depletion syndrome 6 13.1
22 mitochondrial dna depletion syndrome 13 13.1
23 mitochondrial dna depletion syndrome 8a 13.0
24 mitochondrial dna depletion syndrome 1 13.0
25 mitochondrial dna depletion syndrome 2 13.0
26 mitochondrial dna depletion syndrome 4b 12.9
27 mitochondrial dna depletion syndrome 11 12.9
28 mitochondrial dna depletion syndrome 14 12.9
29 mitochondrial dna depletion syndrome 4a 12.9
30 mitochondrial dna depletion syndrome 16 12.9
31 mitochondrial dna depletion syndrome 12b , autosomal recessive 12.9
32 mitochondrial dna depletion syndrome 12a , autosomal dominant 12.9
33 mitochondrial dna depletion syndrome 15 12.9
34 mitochondrial dna depletion syndrome 17 12.8
35 mitochondrial dna depletion syndrome 12a 12.8
36 mitochondrial dna depletion syndrome 12b 12.8
37 suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.7
38 sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.6
39 mitochondrial dna depletion syndrome, hepatocerebrorenal form 12.5
40 sengers syndrome 12.3
41 mpv17-related mitochondrial dna maintenance defect 12.0
42 tk2-related mitochondrial dna maintenance defect, myopathic form 11.8
43 mohr-tranebjaerg syndrome 11.4
44 hypotonia 10.5
45 hypoglycemia 10.4
46 myopathy 10.3
47 sensorineural hearing loss 10.2
48 rrm2b-related mitochondrial disease 10.2
49 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 10.1 TK2 POLG
50 microcephaly 10.1

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.46 MPV17 POLG RRM2B TK2
2 cellular MP:0005384 9.43 MPV17 POLG RRM2B SUCLA2 TK2 TWNK
3 mortality/aging MP:0010768 9.17 MPV17 POLG RRM2B SUCLA2 SUCLG1 TK2

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ubiquinone

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
2 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940

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, Brain, Heart, Skeletal Muscle, Breast, Skin, Eye

Publications for Mitochondrial Dna Depletion Syndrome

Articles related to Mitochondrial Dna Depletion Syndrome:

(show top 50) (show all 202)
# Title Authors PMID Year
1
Fulminant Necrotizing Enterocolitis and Multiple Organ Dysfunction in a Toddler with Mitochondrial DNA Depletion Syndrome-13. 61
31984159 2020
2
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency. 61
31462754 2020
3
Homozygous Mutation in TWNK Cases Ataxia, Sensorineural Hearing Loss and Optic Nerve Atrophy. 61
31823625 2019
4
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement. 61
31463572 2019
5
[Mitochondrial DNA depletion syndrome-13: a case with an unusual onset]. 61
31713230 2019
6
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]. 61
31665838 2019
7
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
8
Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series. 61
31664948 2019
9
Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome. 61
31271740 2019
10
Severe mtDNA depletion and dependency on catabolic lipid metabolism in DGUOK knockout mice. 61
31127938 2019
11
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
12
Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities. 61
30771478 2019
13
Metabolic liver diseases presenting with neonatal cholestasis: at the crossroad between old and new paradigms. 61
30693370 2019
14
Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome. 61
31969900 2019
15
Twinkle-Associated Mitochondrial DNA Depletion. 61
30391088 2019
16
FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review. 61
30804983 2019
17
MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy. 61
30298599 2019
18
The mitochondrial inner membrane protein MPV17 prevents uracil accumulation in mitochondrial DNA. 61
30385507 2018
19
A Screen Using iPSC-Derived Hepatocytes Reveals NAD+ as a Potential Treatment for mtDNA Depletion Syndrome. 61
30404003 2018
20
Ethical implications of medical crowdfunding: the case of Charlie Gard. 61
29728452 2018
21
Right Brain: Withholding treatment from a child with an epileptic encephalomyopathy. 61
29712807 2018
22
[Thymidine kinase 2 gene compound heterozygous mutation leads to mitochondrial DNA depletion syndrome-2:a case report]. 61
29783828 2018
23
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. 61
29282788 2018
24
The presence of rNTPs decreases the speed of mitochondrial DNA replication. 61
29601571 2018
25
[Acute liver failure related to inherited metabolic diseases in young children]. 61
28411097 2018
26
Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family. 61
29217198 2018
27
Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome. 61
30157269 2018
28
Low-dose rapamycin extends lifespan in a mouse model of mtDNA depletion syndrome. 61
28973153 2017
29
MPV17 hepatocerebral mitochondrial DNA depletion syndrome presenting as acute flaccid paralysis - A case report. 61
28673863 2017
30
A defect in the mitochondrial protein Mpv17 underlies the transparent casper zebrafish. 61
28760346 2017
31
A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene. 61
29137425 2017
32
Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome. 61
28749033 2017
33
Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia. 61
28711739 2017
34
[Healthcare services citizen's right and healthcare systems safeguard. Considerations rising from the Charlie Gard story.] 61
28901341 2017
35
Charlie Gard and the Limits of Parental Authority. 61
28940349 2017
36
Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene. 61
28812460 2017
37
Non-electron transfer chain mitochondrial defects differently regulate HIF-1α degradation and transcription. 61
28531964 2017
38
Overexpression of mitochondrial oxodicarboxylate carrier (ODC1) preserves oxidative phosphorylation in a yeast model of Barth syndrome. 61
28188263 2017
39
FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome 61
28383868 2017
40
FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. 61
27743463 2017
41
SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 61
28358460 2017
42
Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure. 61
27482763 2016
43
Mitochondrial purine and pyrimidine metabolism and beyond. 61
27906631 2016
44
Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion. 61
27592148 2016
45
Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome. 61
27660820 2016
46
Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion. 61
27448789 2016
47
Navajo Neurohepatopathy : A Case Report and Literature Review Emphasizing Clinicopathologic Diagnosis. 61
28209105 2016
48
MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome. 61
27536553 2016
49
Novel mutation in SUCLA2 identified on sequencing analysis. 61
26952923 2016
50
[Clinical features and DGUOK mutations of an infant with mitochondrial DNA depletion syndrome]. 61
27324545 2016

Variations for Mitochondrial Dna Depletion Syndrome

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome:

6 (show top 50) (show all 267) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FBXL4 NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter)SNV Pathogenic 66091 rs201889294 6:99347158-99347158 6:98899282-98899282
2 TK2 NM_004614.5(TK2):c.416C>T (p.Ala139Val)SNV Pathogenic/Likely pathogenic 38990 rs281865494 16:66562930-66562930 16:66529027-66529027
3 FBXL4 NM_001278716.2(FBXL4):c.1012G>T (p.Glu338Ter)SNV Likely pathogenic 666968 6:99353393-99353393 6:98905517-98905517
4 TWNK NM_021830.5(TWNK):c.922T>C (p.Leu308=)SNV Conflicting interpretations of pathogenicity 298499 rs754389465 10:102748889-102748889 10:100989132-100989132
5 SUCLA2 NM_003850.2(SUCLA2):c.21C>T (p.Tyr7=)SNV Conflicting interpretations of pathogenicity 312273 rs374479008 13:48575385-48575385 13:48001249-48001249
6 TWNK NM_021830.5(TWNK):c.2045G>A (p.Arg682His)SNV Conflicting interpretations of pathogenicity 214180 rs182559752 10:102753257-102753257 10:100993500-100993500
7 MPV17 NM_002437.5(MPV17):c.27G>T (p.Arg9=)SNV Conflicting interpretations of pathogenicity 195172 rs35244252 2:27545358-27545358 2:27322491-27322491
8 DGUOK NM_080916.3(DGUOK):c.630G>A (p.Glu210=)SNV Conflicting interpretations of pathogenicity 197867 rs115206553 2:74184290-74184290 2:73957163-73957163
9 SUCLG1 NM_003849.4(SUCLG1):c.900C>T (p.Ala300=)SNV Conflicting interpretations of pathogenicity 203967 rs113840224 2:84652653-84652653 2:84425529-84425529
10 SUCLG1 NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp)SNV Conflicting interpretations of pathogenicity 203970 rs143030960 2:84670490-84670490 2:84443366-84443366
11 SUCLG1 NM_003849.4(SUCLG1):c.110G>C (p.Gly37Ala)SNV Conflicting interpretations of pathogenicity 203968 rs369610897 2:84676864-84676864 2:84449740-84449740
12 SUCLA2 NM_003850.2(SUCLA2):c.811A>G (p.Met271Val)SNV Conflicting interpretations of pathogenicity 203946 rs142020748 13:48528684-48528684 13:47954549-47954549
13 SUCLA2 NM_003850.2(SUCLA2):c.272-13G>CSNV Conflicting interpretations of pathogenicity 203945 rs367890526 13:48563129-48563129 13:47988994-47988994
14 POLG NM_002693.2(POLG):c.830A>T (p.His277Leu)SNV Conflicting interpretations of pathogenicity 206583 rs138929605 15:89873337-89873337 15:89330106-89330106
15 POLG NM_002693.2(POLG):c.391T>C (p.Tyr131His)SNV Conflicting interpretations of pathogenicity 206492 rs562847013 15:89876595-89876595 15:89333364-89333364
16 DGUOK NM_080916.3(DGUOK):c.123C>G (p.Leu41=)SNV Conflicting interpretations of pathogenicity 214283 rs145252858 2:74154160-74154160 2:73927033-73927033
17 DGUOK NM_080916.3(DGUOK):c.708-3T>CSNV Conflicting interpretations of pathogenicity 214279 rs370071744 2:74185270-74185270 2:73958143-73958143
18 TWNK NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)SNV Conflicting interpretations of pathogenicity 214177 rs116046810 10:102750730-102750730 10:100990973-100990973
19 SUCLA2 NM_003850.2(SUCLA2):c.789T>C (p.Asp263=)SNV Conflicting interpretations of pathogenicity 139361 rs57270175 13:48542743-48542743 13:47968608-47968608
20 TWNK NM_021830.5(TWNK):c.384C>T (p.Ser128=)SNV Conflicting interpretations of pathogenicity 281415 rs148234280 10:102748351-102748351 10:100988594-100988594
21 SUCLG1 NM_003849.4(SUCLG1):c.590-6G>ASNV Conflicting interpretations of pathogenicity 337155 rs200107730 2:84660565-84660565 2:84433441-84433441
22 SUCLG1 NM_003849.4(SUCLG1):c.345T>C (p.Ala115=)SNV Conflicting interpretations of pathogenicity 337157 rs374594774 2:84668557-84668557 2:84441433-84441433
23 SUCLG1 NM_003849.3(SUCLG1):c.-39C>GSNV Conflicting interpretations of pathogenicity 337164 rs144946502 2:84686432-84686432 2:84459308-84459308
24 SUCLA2 NM_003850.2(SUCLA2):c.256A>G (p.Ile86Val)SNV Conflicting interpretations of pathogenicity 139364 rs61756204 13:48570993-48570993 13:47996858-47996858
25 SUCLG1 NM_003849.4(SUCLG1):c.202-4T>CSNV Conflicting interpretations of pathogenicity 139369 rs141973418 2:84670528-84670528 2:84443404-84443404
26 SUCLA2 NM_003850.2(SUCLA2):c.1350G>A (p.Ala450=)SNV Conflicting interpretations of pathogenicity 259184 rs144969057 13:48517548-48517548 13:47943413-47943413
27 DGUOK NM_080916.3(DGUOK):c.705G>A (p.Thr235=)SNV Conflicting interpretations of pathogenicity 337050 rs866403196 2:74184365-74184365 2:73957238-73957238
28 DGUOK NM_080916.3(DGUOK):c.664C>T (p.Leu222=)SNV Conflicting interpretations of pathogenicity 337049 rs375686551 2:74184324-74184324 2:73957197-73957197
29 DGUOK NM_080916.3(DGUOK):c.*120G>ASNV Uncertain significance 337052 rs886056323 2:74185983-74185983 2:73958856-73958856
30 SUCLG1 NM_003849.4(SUCLG1):c.98-15_98-14insAACCinsertion Uncertain significance 337163 rs886056352 2:84676890-84676891 2:84449766-84449767
31 SUCLG1 NM_003849.3(SUCLG1):c.-71G>TSNV Uncertain significance 337166 rs886056353 2:84686464-84686464 2:84459340-84459340
32 SUCLG1 NM_003849.3(SUCLG1):c.-107A>GSNV Uncertain significance 337167 rs140936198 2:84686500-84686500 2:84459376-84459376
33 SUCLG1 NM_003849.4(SUCLG1):c.*38C>TSNV Uncertain significance 337151 rs369617521 2:84650832-84650832 2:84423708-84423708
34 SUCLG1 NM_003849.4(SUCLG1):c.959G>A (p.Ser320Asn)SNV Uncertain significance 337154 rs146834097 2:84652594-84652594 2:84425470-84425470
35 SUCLG1 NM_003849.4(SUCLG1):c.242A>G (p.Lys81Arg)SNV Uncertain significance 337158 rs564792232 2:84670484-84670484 2:84443360-84443360
36 SUCLG1 NM_003849.4(SUCLG1):c.101C>T (p.Pro34Leu)SNV Uncertain significance 337160 rs149809280 2:84676873-84676873 2:84449749-84449749
37 SUCLG1 NM_003849.3(SUCLG1):c.-150T>ASNV Uncertain significance 337169 rs886056354 2:84686543-84686543 2:84459419-84459419
38 SUCLG1 NM_003849.3(SUCLG1):c.-186G>ASNV Uncertain significance 337170 rs143151382 2:84686579-84686579 2:84459455-84459455
39 RRM2B NM_001172477.1(RRM2B):c.*2613deldeletion Uncertain significance 361143 rs886062563 8:103217748-103217748 8:102205520-102205520
40 RRM2B NM_001172477.1(RRM2B):c.*2410C>ASNV Uncertain significance 361146 rs767476703 8:103217951-103217951 8:102205723-102205723
41 RRM2B NM_001172477.1(RRM2B):c.*2328A>TSNV Uncertain significance 361147 rs886062565 8:103218033-103218033 8:102205805-102205805
42 RRM2B NM_001172477.1(RRM2B):c.*3289A>GSNV Uncertain significance 361130 rs569359604 8:103217072-103217072 8:102204844-102204844
43 RRM2B NM_001172477.1(RRM2B):c.*1717T>ASNV Uncertain significance 361155 rs886062566 8:103218644-103218644 8:102206416-102206416
44 RRM2B NM_001172477.1(RRM2B):c.*869G>TSNV Uncertain significance 361164 rs771055735 8:103219492-103219492 8:102207264-102207264
45 RRM2B NM_001172477.1(RRM2B):c.*3125T>CSNV Uncertain significance 361132 rs886062560 8:103217236-103217236 8:102205008-102205008
46 RRM2B NM_001172477.1(RRM2B):c.*2960G>ASNV Uncertain significance 361136 rs886062561 8:103217401-103217401 8:102205173-102205173
47 RRM2B NM_001172477.1(RRM2B):c.*2492_*2496AAGTT[1]short repeat Uncertain significance 361145 rs886062564 8:103217860-103217864 8:102205632-102205636
48 SUCLG1 NM_003849.4(SUCLG1):c.*13deldeletion Uncertain significance 337152 rs527774382 2:84650857-84650857 2:84423733-84423733
49 RRM2B NM_001172477.1(RRM2B):c.*74deldeletion Uncertain significance 361173 rs886062569 8:103220287-103220287 8:102208059-102208059
50 RRM2B NM_001172477.1(RRM2B):c.*73A>TSNV Uncertain significance 361174 rs886062570 8:103220288-103220288 8:102208060-102208060

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

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

# Super pathways Score Top Affiliating Genes
1 10.69 SUCLG1 SUCLA2
2
Show member pathways
10.34 SUCLG1 SUCLA2
3 9.9 RRM2B POLG

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 matrix GO:0005759 9.26 TWNK TK2 SUCLG1 SUCLA2
2 mitochondrion GO:0005739 9.23 TWNK TK2 SUCLG1 SUCLA2 RRM2B POLG
3 mitochondrial nucleoid GO:0042645 9.16 TWNK POLG

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

# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.43 TWNK RRM2B POLG
2 cellular response to glucose stimulus GO:0071333 9.4 TWNK POLG
3 DNA biosynthetic process GO:0071897 9.37 TK2 POLG
4 tricarboxylic acid cycle GO:0006099 9.32 SUCLG1 SUCLA2
5 succinate metabolic process GO:0006105 9.16 SUCLG1 SUCLA2
6 succinyl-CoA metabolic process GO:0006104 8.96 SUCLG1 SUCLA2
7 mitochondrial DNA replication GO:0006264 8.8 TWNK RRM2B POLG

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

# Name GO ID Score Top Affiliating Genes
1 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
28 GO
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