MTDPS2
MCID: MTC062
MIFTS: 43

Mitochondrial Dna Depletion Syndrome 2 (MTDPS2)

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 2

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 2:

Name: Mitochondrial Dna Depletion Syndrome 2 57 12 43 73 29 13 6 15 71
Mtdps2 57 43 73
Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form 12 43
Mitochondrial Dna Depletion Syndrome, Myopathic Form 58 44
Mitochondrial Dna Depletion Syndrome 2 Myopathic Type 73
Mitochondrial Dna Depletion Myopathy, Tk2-Related 57
Tk2-Related Mitochondrial Dna Depletion Myopathy 43
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®:

57 (Updated 05-Mar-2021)
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

MedlinePlus Genetics : 43 TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS) is an inherited condition that causes progressive muscle weakness (myopathy).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).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.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.

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

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® : 57 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) (Updated 05-Mar-2021)

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

(show all 24)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 30.0 TK2 SCO2 DGUOK
2 tk2-related mitochondrial dna maintenance defect, myopathic form 11.4
3 mitochondrial dna maintenance defects 10.2 TK2 DGUOK
4 mental retardation, autosomal dominant 13 10.1 LAS1L ASCC1
5 lethal congenital contracture syndrome 2 10.1 LAS1L ASCC1
6 prenatal-onset spinal muscular atrophy with congenital bone fractures 10.0 TRIP4 ASCC1
7 charcot-marie-tooth disease type 2a2b 10.0 UQCC2 TEFM
8 mitochondrial dna depletion syndrome 14 10.0 UQCC2 TEFM
9 gracile syndrome 10.0 UQCC2 DGUOK
10 mitochondrial dna depletion syndrome 11 9.9 UQCC2 TEFM
11 congenital contractures 9.9 TRIP4 ASCC1
12 mitochondrial metabolism disease 9.9 SCO2 DGUOK
13 mitochondrial dna depletion syndrome 8a 9.9 UQCC2 TEFM
14 cardiomyopathy, infantile hypertrophic 9.9 TEFM SCO2
15 spinal muscular atrophy, type i 9.9 SCO2 LAS1L
16 mitochondrial disorders 9.8 TK2 SCO2 DGUOK
17 autosomal recessive distal hereditary motor neuronopathy 9.8 MORC2 LAS1L
18 mitochondrial dna depletion syndrome 4b 9.8 TEFM SCO2 DGUOK
19 spinal muscular atrophy, distal, autosomal recessive, 1 9.8 MORC2 LAS1L
20 myoclonic epilepsy associated with ragged-red fibers 9.8 TK2 SCO2
21 mitochondrial dna depletion syndrome 1 9.7 UQCC2 TEFM SCO2
22 muscular atrophy 9.3 TRIP4 SCO2 MORC2 ASCC1
23 spinal muscular atrophy 9.1 TRIP4 TK2 SCO2 MORC2 ASCC1
24 mitochondrial dna depletion syndrome 3 8.4 TRIP4 TK2 TEFM SCO2 MORC2 LAS1L

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 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myopathy 58 31 obligate (100%) Obligate (100%) HP:0003198
2 motor deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002333
3 generalized hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001290
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 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0001531
7 respiratory insufficiency due to muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002747
8 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
9 chronic fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012432
10 recurrent pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0006532
11 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
12 respiratory failure 58 31 frequent (33%) Frequent (79-30%) HP:0002878
13 progressive proximal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0009073
14 respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002098
15 generalized muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003324
16 distal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0002460
17 generalized-onset seizure 58 31 frequent (33%) Frequent (79-30%) HP:0002197
18 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
19 exercise intolerance 58 31 frequent (33%) Frequent (79-30%) HP:0003546
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 progressive external ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000590
25 myalgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003326
26 severe sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008625
27 bulbar palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001283
28 bilateral ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001488
29 weakness of facial musculature 58 31 occasional (7.5%) Occasional (29-5%) HP:0030319
30 infantile sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008610
31 ventilator dependence with inability to wean 58 31 occasional (7.5%) Occasional (29-5%) HP:0005946
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 Frequent (79-30%)
35 muscle weakness 58 Very frequent (99-80%)
36 respiratory insufficiency 58 Very frequent (99-80%)
37 hearing impairment 31 HP:0000365
38 cognitive impairment 58 Excluded (0%)
39 aminoaciduria 31 HP:0003355
40 skeletal muscle atrophy 58 Frequent (79-30%)
41 irritability 31 HP:0000737
42 elevated serum creatine kinase 31 HP:0003236
43 emg: myopathic abnormalities 31 HP:0003458
44 ragged-red muscle fibers 31 HP:0003200
45 intellectual disability, progressive 31 HP:0006887
46 ophthalmoparesis 58 Occasional (29-5%)
47 lactic acidosis 31 HP:0003128
48 limb muscle weakness 31 HP:0003690
49 delayed gross motor development 31 HP:0002194
50 cerebral atrophy 31 HP:0002059

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Laboratory Abnormalities:
aminoaciduria
increased serum creatine kinase

Metabolic Features:
lactic acidosis

Head And Neck Face:
facial diplegia

Respiratory:
respiratory insufficiency due to muscle weakness

Muscle Soft Tissue:
limb muscle weakness
inability to walk
gowers sign
loss of ability to walk in early childhood
hypotonia
more

Clinical features from OMIM®:

609560 (Updated 05-Mar-2021)

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

Publications for Mitochondrial Dna Depletion Syndrome 2

Articles related to Mitochondrial Dna Depletion Syndrome 2:

(show all 16)
# Title Authors PMID Year
1
TK2 mutation presenting as indolent myopathy. 6 57
23303857 2013
2
Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum. 57 6
22345218 2012
3
Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene. 6 57
12873860 2003
4
Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy. 6 57
12493767 2003
5
Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA. 57 6
12391347 2002
6
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. 6 57
11687801 2001
7
Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. 57 6
1734306 1992
8
Loss of thymidine kinase 2 alters neuronal bioenergetics and leads to neurodegeneration. 57
20123860 2010
9
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance. 57
18467430 2008
10
Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene. 57
16908738 2006
11
Mitochondrial DNA copy number threshold in mtDNA depletion myopathy. 57
16087914 2005
12
Reversion of mtDNA depletion in a patient with TK2 deficiency. 57
12682338 2003
13
Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion. 57
7849699 1994
14
mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. 57
1998336 1991
15
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. 57
6314875 1983
16
[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 top 50) (show all 132)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TK2 NM_004614.5(TK2):c.361C>A (p.His121Asn) SNV Pathogenic 12708 rs137854429 16:66565297-66565297 16:66531394-66531394
2 TK2 NM_004614.5(TK2):c.635T>A (p.Ile212Asn) SNV Pathogenic 12709 rs137854430 16:66547698-66547698 16:66513795-66513795
3 TK2 NM_004614.5(TK2):c.323C>T (p.Thr108Met) SNV Pathogenic 12710 rs137854431 16:66565335-66565335 16:66531432-66531432
4 TK2 NM_004614.5(TK2):c.159C>G (p.Ile53Met) SNV Pathogenic 12711 rs137854432 16:66575854-66575854 16:66541951-66541951
5 TK2 NM_004614.4:c.-270+2561delins;7287-7335inv Insertion Pathogenic 38971
6 TK2 NM_004614.5(TK2):c.133C>T (p.Gln45Ter) SNV Pathogenic 38974 rs281865486 16:66582904-66582904 16:66549001-66549001
7 TK2 NM_004614.5(TK2):c.142dup (p.Glu48fs) Duplication Pathogenic 38975 rs281865503 16:66582894-66582895 16:66548991-66548992
8 TK2 NM_004614.5(TK2):c.150dup (p.Ser51fs) Duplication Pathogenic 38976 rs281865504 16:66582886-66582887 16:66548983-66548984
9 TK2 NM_004614.5(TK2):c.156+2T>C SNV Pathogenic 38977 rs281865499 16:66582879-66582879 16:66548976-66548976
10 TK2 NM_004614.5(TK2):c.198C>G (p.Cys66Trp) SNV Pathogenic 38980 rs281865488 16:66575815-66575815 16:66541912-66541912
11 TK2 NM_004614.5(TK2):c.216_217CG[3] (p.Thr74fs) Microsatellite Pathogenic 38981 rs281865505 16:66575793-66575794 16:66541890-66541891
12 TK2 NM_004614.5(TK2):c.268C>T (p.Arg90Cys) SNV Pathogenic 38982 rs281865489 16:66570884-66570884 16:66536981-66536981
13 TK2 NM_004614.5(TK2):c.278A>G (p.Asn93Ser) SNV Pathogenic 38983 rs142291440 16:66570874-66570874 16:66536971-66536971
14 TK2 NM_004614.5(TK2):c.334T>A (p.Tyr112Asn) SNV Pathogenic 38984 rs281865490 16:66565324-66565324 16:66531421-66531421
15 TK2 NM_004614.5(TK2):c.335_336dup (p.Val113fs) Duplication Pathogenic 38985 rs281865506 16:66565321-66565322 16:66531418-66531419
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.373C>T (p.Gln125Ter) SNV Pathogenic 38987 rs281865491 16:66565285-66565285 16:66531382-66531382
18 TK2 NM_004614.5(TK2):c.389G>A (p.Arg130Gln) SNV Pathogenic 38989 rs281865492 16:66562957-66562957 16:66529054-66529054
19 TK2 NM_004614.5(TK2):c.8dup (p.Trp4fs) Duplication Pathogenic 38998 rs281865502 16:66583956-66583957 16:66550053-66550054
20 TK2 TK2, 8-BP DUP Duplication Pathogenic 39416
21 TK2 NM_004614.5(TK2):c.575G>A (p.Arg192Lys) SNV Pathogenic 38994 rs281865496 16:66551082-66551082 16:66517179-66517179
22 TK2 NM_004614.5(TK2):c.604_606del (p.Lys202del) Deletion Pathogenic 38995 rs281865501 16:66551051-66551053 16:66517148-66517150
23 TK2 NM_004614.5(TK2):c.644T>C (p.Leu215Pro) SNV Pathogenic 38996 rs281865497 16:66547689-66547689 16:66513786-66513786
24 TK2 NM_004614.5(TK2):c.372_373delinsCT (p.Gln125Ter) Indel Pathogenic 265614 rs886039669 16:66565285-66565286 16:66531382-66531383
25 TK2 NM_004614.5(TK2):c.144_145del (p.Lys50fs) Microsatellite Pathogenic 972912 16:66582892-66582893 16:66548989-66548990
26 TK2 NM_004614.5(TK2):c.328C>T (p.Gln110Ter) SNV Pathogenic 972914 16:66565330-66565330 16:66531427-66531427
27 TK2 NM_004614.5(TK2):c.129_132del (p.Lys43fs) Deletion Pathogenic 38973 rs281865500 16:66582905-66582908 16:66549002-66549005
28 TK2 NM_004614.5(TK2):c.388C>T (p.Arg130Trp) SNV Pathogenic 38988 rs281865493 16:66562958-66562958 16:66529055-66529055
29 TK2 NM_004614.5(TK2):c.173A>G (p.Asn58Ser) SNV Pathogenic 38978 rs138439950 16:66575840-66575840 16:66541937-66541937
30 TK2 NM_004614.5(TK2):c.416C>T (p.Ala139Val) SNV Pathogenic 38990 rs281865494 16:66562930-66562930 16:66529027-66529027
31 TK2 NM_004614.5(TK2):c.547C>T (p.Arg183Trp) SNV Pathogenic 38992 rs137886900 16:66551110-66551110 16:66517207-66517207
32 TK2 NM_004614.5(TK2):c.562A>G (p.Thr188Ala) SNV Pathogenic 38993 rs281865495 16:66551095-66551095 16:66517192-66517192
33 TK2 NM_004614.5(TK2):c.416C>T (p.Ala139Val) SNV Pathogenic 38990 rs281865494 16:66562930-66562930 16:66529027-66529027
34 TK2 NM_004614.5(TK2):c.173A>G (p.Asn58Ser) SNV Pathogenic 38978 rs138439950 16:66575840-66575840 16:66541937-66541937
35 TK2 NM_001040138.2(CKLF):c.-7863_-2035delins[AC010542.7:g.65062_65110] Indel Pathogenic 38972 16:66578756-66584584 16:66544853-66550681
36 TK2 NM_004614.5(TK2):c.659T>C (p.Leu220Pro) SNV Likely pathogenic 972913 16:66547674-66547674 16:66513771-66513771
37 TK2 NM_004614.5(TK2):c.497A>T (p.Asp166Val) SNV Likely pathogenic 450835 rs921593414 16:66551733-66551733 16:66517830-66517830
38 TK2 NM_004614.5(TK2):c.310C>T (p.Arg104Cys) SNV Likely pathogenic 694439 rs1194187379 16:66565348-66565348 16:66531445-66531445
39 TK2 NM_004614.5(TK2):c.338T>A (p.Val113Glu) SNV Likely pathogenic 694440 rs746707855 16:66565320-66565320 16:66531417-66531417
40 TK2 NM_004614.5(TK2):c.655T>C (p.Trp219Arg) SNV Likely pathogenic 694441 rs748655443 16:66547678-66547678 16:66513775-66513775
41 TK2 NM_004614.5(TK2):c.169G>A (p.Gly57Ser) SNV Likely pathogenic 694443 rs749123392 16:66575844-66575844 16:66541941-66541941
42 TK2 NM_004614.5(TK2):c.122C>A (p.Pro41His) SNV Conflicting interpretations of pathogenicity 215262 rs201904720 16:66583843-66583843 16:66549940-66549940
43 TK2 NM_004614.5(TK2):c.680C>T (p.Pro227Leu) SNV Uncertain significance 215268 rs754140768 16:66547653-66547653 16:66513750-66513750
44 TK2 NM_001172643.1(TK2):c.31+122T>A SNV Uncertain significance 884525 16:66584034-66584034 16:66550131-66550131
45 TK2 NM_004614.5(TK2):c.*1029T>A SNV Uncertain significance 887612 16:66544842-66544842 16:66510939-66510939
46 TK2 NM_004614.5(TK2):c.*773C>T SNV Uncertain significance 887613 16:66545098-66545098 16:66511195-66511195
47 TK2 NM_004614.5(TK2):c.125A>C (p.Asp42Ala) SNV Uncertain significance 887674 16:66582912-66582912 16:66549009-66549009
48 TK2 NM_004614.5(TK2):c.125-13C>T SNV Uncertain significance 887675 16:66582925-66582925 16:66549022-66549022
49 TK2 NM_004614.5(TK2):c.*1671G>C SNV Uncertain significance 886421 16:66544200-66544200 16:66510297-66510297
50 TK2 NM_004614.5(TK2):c.*1597G>A SNV Uncertain significance 886422 16:66544274-66544274 16:66510371-66510371

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 UQCC2 TK2 TEFM SCO2 DGUOK
2 neuromuscular junction GO:0031594 9.26 TRIP4 ASCC1
3 mitochondrial nucleoid GO:0042645 9.16 UQCC2 TEFM
4 mitochondrial matrix GO:0005759 9.02 UQCC2 TK2 TEFM SCO2 DGUOK

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

# Name GO ID Score Top Affiliating Genes
1 nucleobase-containing compound metabolic process GO:0006139 8.96 TK2 DGUOK
2 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 deoxynucleoside kinase activity GO:0019136 8.62 TK2 DGUOK

Sources for Mitochondrial Dna Depletion Syndrome 2

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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