MTDPS2
MCID: MTC062
MIFTS: 43

Mitochondrial Dna Depletion Syndrome 2 (MTDPS2)

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 2

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 2:

Name: Mitochondrial Dna Depletion Syndrome 2 56 12 25 73 29 13 6 15 71
Mtdps2 56 25 73
Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form 12 25
Mitochondrial Dna Depletion Syndrome, Myopathic Form 58 43
Mitochondrial Dna Depletion Syndrome 2 Myopathic Type 73
Mitochondrial Dna Depletion Myopathy, Tk2-Related 56
Tk2-Related Mitochondrial Dna Depletion Myopathy 25
Mitochondrial Dna Depletion Myopathy Tk2-Related 73
Myopathic Mitochondrial Dna Depletion Syndrome 73
Mitochondrial Dna Depletion Syndrome, Type 2 39
Mtdna Depletion Syndrome, Myopathic Form 58

Characteristics:

Orphanet epidemiological data:

58
mitochondrial dna depletion syndrome, myopathic form
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
later onset has been reported
onset usually by age 2 years


HPO:

31
mitochondrial dna depletion syndrome 2:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset progressive


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Mitochondrial Dna Depletion Syndrome 2

Genetics Home Reference : 25 TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS) is an inherited condition that causes progressive muscle weakness (myopathy). TK2 TK2 The signs and symptoms of TK2-MDS typically begin in early childhood. Development is usually normal early in life, but as muscle weakness progresses, people with TK2-MDS lose motor skills such as standing, walking, eating, and talking. Some affected individuals have increasing weakness in the muscles that control eye movement, leading to droopy eyelids (progressive external ophthalmoplegia). TK2 TK2 Most often in TK2-MDS, the muscles are the only affected tissues; however, the liver may be enlarged (hepatomegaly), seizures can occur, and hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss) may be present. Intelligence is usually not affected. TK2 As the disorder worsens, the muscles that control breathing become weakened and affected individuals frequently have to rely on mechanical ventilation. Respiratory failure is the most common cause of death in people with TK2-MDS, often occurring in childhood. Rarely, the disorder progresses slowly and affected individuals survive into adolescence or adulthood. TK2

MalaCards based summary : Mitochondrial Dna Depletion Syndrome 2, also known as mtdps2, is related to tk2-related mitochondrial dna maintenance defect, myopathic form and mitochondrial dna maintenance defects. An important gene associated with Mitochondrial Dna Depletion Syndrome 2 is TK2 (Thymidine Kinase 2). Affiliated tissues include skeletal muscle, eye and liver, and related phenotypes are myopathy and generalized hypotonia

Disease Ontology : 12 A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21.

OMIM : 56 Mitochondrial DNA depletion syndrome-2 is an autosomal recessive disorder characterized primarily by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle. There is wide clinical variability; some patients have onset in infancy and show a rapidly progressive course with early death due to respiratory failure, whereas others have later childhood onset of a slowly progressive myopathy (Oskoui et al., 2006). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041). (609560)

UniProtKB/Swiss-Prot : 73 Mitochondrial DNA depletion syndrome 2: A disorder due to mitochondrial dysfunction characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle. There is wide clinical variability; some patients have onset in infancy and show a rapidly progressive course with early death due to respiratory failure, whereas others have later onset of a slowly progressive myopathy.

Related Diseases for Mitochondrial Dna Depletion Syndrome 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 tk2-related mitochondrial dna maintenance defect, myopathic form 11.6
2 mitochondrial dna maintenance defects 10.1 TK2 DGUOK
3 mitochondrial dna depletion syndrome 14 10.0 TEFM PRIMPOL
4 mitochondrial dna depletion syndrome 8a 9.9 TEFM PRIMPOL
5 mitochondrial dna depletion syndrome 11 9.9 TEFM PRIMPOL
6 prenatal-onset spinal muscular atrophy with congenital bone fractures 9.9 TRIP4 ASCC1
7 mitochondrial dna depletion syndrome 4b 9.8 TEFM PRIMPOL
8 mental retardation, autosomal dominant 13 9.8 TK2 LAS1L ASCC1
9 congenital contractures 9.8 TRIP4 ASCC1
10 mitochondrial dna depletion syndrome 4a 9.7 TEFM PRIMPOL DGUOK
11 spinal muscular atrophy, type i 9.6 SCO2 LAS1L
12 spinal muscular atrophy, distal, autosomal recessive, 1 9.6 MORC2 LAS1L
13 mitochondrial dna depletion syndrome 1 9.6 TEFM SCO2 PRIMPOL
14 mitochondrial metabolism disease 9.5 TK2 SCO2 DGUOK
15 lethal congenital contracture syndrome 2 9.4 TRIP4 TK2 LAS1L ASCC1
16 muscular atrophy 9.3 TRIP4 MORC2 ASCC1
17 spinal muscular atrophy 8.6 TRIP4 TK2 SCO2 MORC2 ASCC1
18 mitochondrial dna depletion syndrome 3 7.4 TRIP4 TK2 TEFM SCO2 PRIMPOL MORC2

Graphical network of the top 20 diseases related to Mitochondrial Dna Depletion Syndrome 2:



Diseases related to Mitochondrial Dna Depletion Syndrome 2

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 2

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 2:

58 31 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myopathy 58 31 obligate (100%) Obligate (100%) HP:0003198
2 generalized hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001290
3 motor deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002333
4 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
5 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
6 respiratory insufficiency due to muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002747
7 generalized muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003324
8 respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002098
9 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0001531
10 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
11 generalized-onset seizure 58 31 frequent (33%) Frequent (79-30%) HP:0002197
12 chronic fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012432
13 respiratory failure 58 31 frequent (33%) Frequent (79-30%) HP:0002878
14 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
15 recurrent pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0006532
16 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
17 exercise intolerance 58 31 frequent (33%) Frequent (79-30%) HP:0003546
18 progressive proximal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009073
19 distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002460
20 difficulty standing 58 31 frequent (33%) Frequent (79-30%) HP:0003698
21 infantile encephalopathy 58 31 frequent (33%) Frequent (79-30%) HP:0007105
22 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
23 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
24 myalgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003326
25 progressive external ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000590
26 bilateral ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001488
27 severe sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008625
28 bulbar palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001283
29 infantile sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008610
30 ventilator dependence with inability to wean 58 31 occasional (7.5%) Occasional (29-5%) HP:0005946
31 weakness of facial musculature 58 31 occasional (7.5%) Occasional (29-5%) HP:0030319
32 scoliosis 58 31 very rare (1%) Very rare (<4-1%) HP:0002650
33 spinal muscular atrophy 58 31 very rare (1%) Very rare (<4-1%) HP:0007269
34 muscular hypotonia 58 31 Frequent (79-30%) HP:0001252
35 seizures 31 HP:0001250
36 muscle weakness 58 Very frequent (99-80%)
37 respiratory insufficiency 58 Very frequent (99-80%)
38 hearing impairment 31 HP:0000365
39 delayed gross motor development 31 HP:0002194
40 cognitive impairment 58 Excluded (0%)
41 aminoaciduria 31 HP:0003355
42 skeletal muscle atrophy 58 Frequent (79-30%)
43 irritability 31 HP:0000737
44 emg: myopathic abnormalities 31 HP:0003458
45 ophthalmoparesis 58 Occasional (29-5%)
46 lactic acidosis 31 HP:0003128
47 ragged-red muscle fibers 31 HP:0003200
48 intellectual disability, progressive 31 HP:0006887
49 facial diplegia 31 HP:0001349
50 limb muscle weakness 31 HP:0003690

Symptoms via clinical synopsis from OMIM:

56
Laboratory Abnormalities:
aminoaciduria
increased serum creatine kinase

Muscle Soft Tissue:
inability to walk
limb muscle weakness
gowers sign
loss of ability to walk in early childhood
hypotonia
more
Head And Neck Face:
facial diplegia

Respiratory:
respiratory insufficiency due to muscle weakness

Metabolic Features:
lactic acidosis

Clinical features from OMIM:

609560

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 2

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 2

Cochrane evidence based reviews: mitochondrial dna depletion syndrome, myopathic form

Genetic Tests for Mitochondrial Dna Depletion Syndrome 2

Genetic tests related to Mitochondrial Dna Depletion Syndrome 2:

# Genetic test Affiliating Genes
1 Mitochondrial Dna Depletion Syndrome 2 29 TK2

Anatomical Context for Mitochondrial Dna Depletion Syndrome 2

MalaCards organs/tissues related to Mitochondrial Dna Depletion Syndrome 2:

40
Skeletal Muscle, Eye, Liver, Bone

Publications for Mitochondrial Dna Depletion Syndrome 2

Articles related to Mitochondrial Dna Depletion Syndrome 2:

(show all 17)
# Title Authors PMID Year
1
TK2 mutation presenting as indolent myopathy. 56 6
23303857 2013
2
Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum. 56 6
22345218 2012
3
Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene. 56 6
12873860 2003
4
Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy. 56 6
12493767 2003
5
Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA. 56 6
12391347 2002
6
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. 56 6
11687801 2001
7
Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. 56 6
1734306 1992
8
TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form 6
23230576 2012
9
Loss of thymidine kinase 2 alters neuronal bioenergetics and leads to neurodegeneration. 56
20123860 2010
10
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance. 56
18467430 2008
11
Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene. 56
16908738 2006
12
Mitochondrial DNA copy number threshold in mtDNA depletion myopathy. 56
16087914 2005
13
Reversion of mtDNA depletion in a patient with TK2 deficiency. 56
12682338 2003
14
Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion. 56
7849699 1994
15
mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. 56
1998336 1991
16
Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin. 56
6314875 1983
17
[Thymidine kinase 2 gene compound heterozygous mutation leads to mitochondrial DNA depletion syndrome-2:a case report]. 61
29783828 2018

Variations for Mitochondrial Dna Depletion Syndrome 2

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 2:

6 (show all 40) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TK2 NM_004614.5(TK2):c.8dup (p.Trp4fs)duplication Pathogenic 38998 rs281865502 16:66583956-66583957 16:66550053-66550054
2 TK2 NM_004614.5(TK2):c.142dup (p.Glu48fs)duplication Pathogenic 38975 rs281865503 16:66582894-66582895 16:66548991-66548992
3 TK2 NM_004614.5(TK2):c.150dup (p.Ser51fs)duplication Pathogenic 38976 rs281865504 16:66582886-66582887 16:66548983-66548984
4 TK2 NM_004614.5(TK2):c.335_336dup (p.Val113fs)duplication Pathogenic 38985 rs281865506 16:66565321-66565322 16:66531418-66531419
5 TK2 NM_004614.5(TK2):c.373C>T (p.Gln125Ter)SNV Pathogenic 38987 rs281865491 16:66565285-66565285 16:66531382-66531382
6 TK2 NM_004614.5(TK2):c.388C>T (p.Arg130Trp)SNV Pathogenic 38988 rs281865493 16:66562958-66562958 16:66529055-66529055
7 TK2 NM_004614.4:c.-270+2561delins;7287-7335invinsertion Pathogenic 38971
8 TK2 NM_001040138.2(CKLF):c.-7863_-2035delinsoAC010542.7:g.65062_65110indel Pathogenic 38972 16:66578756-66584584 16:66544853-66550681
9 TK2 NM_004614.5(TK2):c.129_132del (p.Lys43fs)deletion Pathogenic 38973 rs281865500 16:66582905-66582908 16:66549002-66549005
10 TK2 NM_004614.5(TK2):c.133C>T (p.Gln45Ter)SNV Pathogenic 38974 rs281865486 16:66582904-66582904 16:66549001-66549001
11 TK2 NM_004614.5(TK2):c.156+2T>CSNV Pathogenic 38977 rs281865499 16:66582879-66582879 16:66548976-66548976
12 TK2 NM_004614.5(TK2):c.361C>A (p.His121Asn)SNV Pathogenic 12708 rs137854429 16:66565297-66565297 16:66531394-66531394
13 TK2 NM_004614.5(TK2):c.635T>A (p.Ile212Asn)SNV Pathogenic 12709 rs137854430 16:66547698-66547698 16:66513795-66513795
14 TK2 NM_004614.5(TK2):c.323C>T (p.Thr108Met)SNV Pathogenic 12710 rs137854431 16:66565335-66565335 16:66531432-66531432
15 TK2 NM_004614.5(TK2):c.159C>G (p.Ile53Met)SNV Pathogenic 12711 rs137854432 16:66575854-66575854 16:66541951-66541951
16 TK2 NM_004614.5(TK2):c.360_361delinsAA (p.His121Asn)indel Pathogenic 38986 rs281865507 16:66565297-66565298 16:66531394-66531395
17 TK2 NM_004614.5(TK2):c.389G>A (p.Arg130Gln)SNV Pathogenic 38989 rs281865492 16:66562957-66562957 16:66529054-66529054
18 TK2 NM_004614.5(TK2):c.198C>G (p.Cys66Trp)SNV Pathogenic 38980 rs281865488 16:66575815-66575815 16:66541912-66541912
19 TK2 NM_004614.5(TK2):c.216_217CG[3] (p.Thr74fs)short repeat Pathogenic 38981 rs281865505 16:66575793-66575794 16:66541890-66541891
20 TK2 NM_004614.5(TK2):c.278A>G (p.Asn93Ser)SNV Pathogenic 38983 rs142291440 16:66570874-66570874 16:66536971-66536971
21 TK2 NM_004614.5(TK2):c.334T>A (p.Tyr112Asn)SNV Pathogenic 38984 rs281865490 16:66565324-66565324 16:66531421-66531421
22 TK2 NM_004614.5(TK2):c.547C>T (p.Arg183Trp)SNV Pathogenic 38992 rs137886900 16:66551110-66551110 16:66517207-66517207
23 TK2 NM_004614.5(TK2):c.562A>G (p.Thr188Ala)SNV Pathogenic 38993 rs281865495 16:66551095-66551095 16:66517192-66517192
24 TK2 NM_004614.5(TK2):c.575G>A (p.Arg192Lys)SNV Pathogenic 38994 rs281865496 16:66551082-66551082 16:66517179-66517179
25 TK2 NM_004614.5(TK2):c.604_606del (p.Lys202del)deletion Pathogenic 38995 rs281865501 16:66551051-66551053 16:66517148-66517150
26 TK2 NM_004614.5(TK2):c.644T>C (p.Leu215Pro)SNV Pathogenic 38996 rs281865497 16:66547689-66547689 16:66513786-66513786
27 TK2 TK2, 8-BP DUPduplication Pathogenic 39416
28 TK2 NM_004614.5(TK2):c.416C>T (p.Ala139Val)SNV Pathogenic/Likely pathogenic 38990 rs281865494 16:66562930-66562930 16:66529027-66529027
29 TK2 NM_004614.5(TK2):c.173A>G (p.Asn58Ser)SNV Pathogenic/Likely pathogenic 38978 rs138439950 16:66575840-66575840 16:66541937-66541937
30 TK2 NM_004614.5(TK2):c.268C>T (p.Arg90Cys)SNV Likely pathogenic 38982 rs281865489 16:66570884-66570884 16:66536981-66536981
31 TK2 NM_004614.5(TK2):c.655T>C (p.Trp219Arg)SNV Likely pathogenic 694441 16:66547678-66547678 16:66513775-66513775
32 TK2 NM_004614.5(TK2):c.338T>A (p.Val113Glu)SNV Likely pathogenic 694440 16:66565320-66565320 16:66531417-66531417
33 TK2 NM_004614.5(TK2):c.310C>T (p.Arg104Cys)SNV Likely pathogenic 694439 16:66565348-66565348 16:66531445-66531445
34 TK2 NM_004614.5(TK2):c.169G>A (p.Gly57Ser)SNV Likely pathogenic 694443 16:66575844-66575844 16:66541941-66541941
35 TK2 NM_004614.5(TK2):c.122C>A (p.Pro41His)SNV Conflicting interpretations of pathogenicity 215262 rs201904720 16:66583843-66583843 16:66549940-66549940
36 TK2 NM_004614.5(TK2):c.699+6_699+9delshort repeat Uncertain significance 225491 rs529176585 16:66547625-66547628 16:66513722-66513725
37 TK2 NM_004614.5(TK2):c.760C>T (p.Arg254Ter)SNV Uncertain significance 38997 rs281865498 16:66545909-66545909 16:66512006-66512006
38 TK2 NM_004614.5(TK2):c.191C>T (p.Thr64Met)SNV Uncertain significance 38979 rs281865487 16:66575822-66575822 16:66541919-66541919
39 TK2 NM_004614.5(TK2):c.547C>G (p.Arg183Gly)SNV Uncertain significance 38991 rs137886900 16:66551110-66551110 16:66517207-66517207
40 TK2 NM_004614.5(TK2):c.231+10C>TSNV Benign/Likely benign 137668 rs187517309 16:66575772-66575772 16:66541869-66541869

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Dna Depletion Syndrome 2:

73
# Symbol AA change Variation ID SNP ID
1 TK2 p.Ile53Met VAR_019419 rs137854432
2 TK2 p.Thr108Met VAR_019420 rs137854431
3 TK2 p.His121Asn VAR_019421 rs137854429
4 TK2 p.Ile212Asn VAR_019422 rs137854430
5 TK2 p.Thr64Met VAR_023790 rs281865487
6 TK2 p.Arg183Trp VAR_023791 rs137886900
7 TK2 p.Arg192Lys VAR_023792 rs281865496
8 TK2 p.Met117Val VAR_072789
9 TK2 p.Ala139Val VAR_072790 rs281865494

Expression for Mitochondrial Dna Depletion Syndrome 2

Search GEO for disease gene expression data for Mitochondrial Dna Depletion Syndrome 2.

Pathways for Mitochondrial Dna Depletion Syndrome 2

GO Terms for Mitochondrial Dna Depletion Syndrome 2

Cellular components related to Mitochondrial Dna Depletion Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.35 TK2 TEFM SCO2 PRIMPOL DGUOK
2 neuromuscular junction GO:0031594 9.16 TRIP4 ASCC1
3 mitochondrial matrix GO:0005759 9.02 TK2 TEFM SCO2 PRIMPOL DGUOK

Biological processes related to Mitochondrial Dna Depletion Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.5 PRIMPOL MORC2 ASCC1
2 nucleobase-containing compound metabolic process GO:0006139 9.26 TK2 DGUOK
3 nucleotide biosynthetic process GO:0009165 9.16 TK2 DGUOK
4 mitochondrial DNA replication GO:0006264 8.96 TEFM PRIMPOL
5 deoxyribonucleoside monophosphate biosynthetic process GO:0009157 8.62 TK2 DGUOK

Molecular functions related to Mitochondrial Dna Depletion Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoside kinase activity GO:0019206 8.96 TK2 DGUOK
2 deoxynucleoside kinase activity GO:0019136 8.62 TK2 DGUOK

Sources for Mitochondrial Dna Depletion Syndrome 2

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