MCID: TK2001
MIFTS: 8

Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form

Categories: Genetic diseases

Aliases & Classifications for Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form

MalaCards integrated aliases for Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form:

Name: Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form 23 24 25
Tk2-Related Mitochondrial Dna Depletion Myopathy 23 24 25
Mitochondrial Dna Depletion Syndrome 2 25 69
Tk2-Related Mtdna Depletion Syndrome, Myopathic Form 24
Mtdps2 25

Classifications:



Summaries for Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form

Genetics Home Reference : 25 TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS) is an inherited condition that causes progressive muscle weakness (myopathy).

MalaCards based summary : Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form, also known as tk2-related mitochondrial dna depletion myopathy, is related to mitochondrial dna depletion syndrome 2 and mitochondrial dna depletion syndrome, myopathic form. An important gene associated with Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form is TK2 (Thymidine Kinase 2, Mitochondrial).

GeneReviews: NBK114628

Related Diseases for Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form

Diseases related to Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 2 12.5
2 mitochondrial dna depletion syndrome, myopathic form 10.2

Symptoms & Phenotypes for Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form

Drugs & Therapeutics for Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form

Search Clinical Trials , NIH Clinical Center for Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form

Genetic Tests for Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form

Genetic tests related to Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form:

id Genetic test Affiliating Genes
1 Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form 24 TK2

Anatomical Context for Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form

Publications for Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form

Articles related to Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form:

id Title Authors Year
1
TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form ( 23230576 )
1993

Variations for Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form

ClinVar genetic disease variations for Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form:

6 (show all 32)
id Gene Variation Type Significance SNP ID Assembly Location
1 TK2 NM_004614.4(TK2): c.361C> A (p.His121Asn) single nucleotide variant Pathogenic rs137854429 GRCh37 Chromosome 16, 66565297: 66565297
2 TK2 NM_004614.4(TK2): c.635T> A (p.Ile212Asn) single nucleotide variant Pathogenic rs137854430 GRCh37 Chromosome 16, 66547698: 66547698
3 TK2 NM_004614.4(TK2): c.323C> T (p.Thr108Met) single nucleotide variant Pathogenic rs137854431 GRCh37 Chromosome 16, 66565335: 66565335
4 TK2 NM_004614.4(TK2): c.159C> G (p.Ile53Met) single nucleotide variant Pathogenic rs137854432 GRCh37 Chromosome 16, 66575854: 66575854
5 TK2 NM_001040138.2(CKLF): c.-7863_-2035delinsoAC010542.7: g.65062_65110 indel Pathogenic GRCh37 Chromosome 16, 66578756: 66584584
6 TK2 NM_004614.4(TK2): c.129_132delAGAA (p.Lys43Asnfs) deletion Pathogenic rs281865500 GRCh37 Chromosome 16, 66582905: 66582908
7 TK2 NM_004614.4(TK2): c.133C> T (p.Gln45Ter) single nucleotide variant Pathogenic rs281865486 GRCh37 Chromosome 16, 66582904: 66582904
8 TK2 NM_004614.4(TK2): c.142dupG (p.Glu48Glyfs) duplication Pathogenic rs281865503 GRCh37 Chromosome 16, 66582895: 66582895
9 TK2 NM_004614.4(TK2): c.150dupA (p.Ser51Ilefs) duplication Pathogenic rs281865504 GRCh37 Chromosome 16, 66582887: 66582887
10 TK2 NM_004614.4(TK2): c.156+2T> C single nucleotide variant Pathogenic rs281865499 GRCh37 Chromosome 16, 66582879: 66582879
11 TK2 NM_004614.4(TK2): c.173A> G (p.Asn58Ser) single nucleotide variant Pathogenic rs138439950 GRCh37 Chromosome 16, 66575840: 66575840
12 TK2 NM_004614.4(TK2): c.191C> T (p.Thr64Met) single nucleotide variant Pathogenic rs281865487 GRCh37 Chromosome 16, 66575822: 66575822
13 TK2 NM_004614.4(TK2): c.198C> G (p.Cys66Trp) single nucleotide variant Pathogenic rs281865488 GRCh37 Chromosome 16, 66575815: 66575815
14 TK2 NM_004614.4(TK2): c.218_219dupCG (p.Thr74Argfs) duplication Pathogenic rs281865505 GRCh37 Chromosome 16, 66575794: 66575795
15 TK2 NM_004614.4(TK2): c.268C> T (p.Arg90Cys) single nucleotide variant Pathogenic rs281865489 GRCh37 Chromosome 16, 66570884: 66570884
16 TK2 NM_004614.4(TK2): c.278A> G (p.Asn93Ser) single nucleotide variant Pathogenic rs142291440 GRCh37 Chromosome 16, 66570874: 66570874
17 TK2 NM_004614.4(TK2): c.334T> A (p.Tyr112Asn) single nucleotide variant Pathogenic rs281865490 GRCh37 Chromosome 16, 66565324: 66565324
18 TK2 NM_004614.4(TK2): c.335_336dupAT (p.Val113Metfs) duplication Pathogenic rs281865506 GRCh37 Chromosome 16, 66565322: 66565323
19 TK2 NM_004614.4(TK2): c.360_361delGCinsAA (p.His121Asn) indel Pathogenic rs281865507 GRCh37 Chromosome 16, 66565297: 66565298
20 TK2 NM_004614.4(TK2): c.373C> T (p.Gln125Ter) single nucleotide variant Pathogenic rs281865491 GRCh37 Chromosome 16, 66565285: 66565285
21 TK2 NM_004614.4(TK2): c.388C> T (p.Arg130Trp) single nucleotide variant Pathogenic rs281865493 GRCh37 Chromosome 16, 66562958: 66562958
22 TK2 NM_004614.4(TK2): c.389G> A (p.Arg130Gln) single nucleotide variant Pathogenic rs281865492 GRCh37 Chromosome 16, 66562957: 66562957
23 TK2 NM_004614.4(TK2): c.416C> T (p.Ala139Val) single nucleotide variant Pathogenic rs281865494 GRCh37 Chromosome 16, 66562930: 66562930
24 TK2 NM_004614.4(TK2): c.547C> G (p.Arg183Gly) single nucleotide variant Pathogenic rs137886900 GRCh37 Chromosome 16, 66551110: 66551110
25 TK2 NM_004614.4(TK2): c.547C> T (p.Arg183Trp) single nucleotide variant Pathogenic rs137886900 GRCh37 Chromosome 16, 66551110: 66551110
26 TK2 NM_004614.4(TK2): c.562A> G (p.Thr188Ala) single nucleotide variant Pathogenic rs281865495 GRCh37 Chromosome 16, 66551095: 66551095
27 TK2 NM_004614.4(TK2): c.575G> A (p.Arg192Lys) single nucleotide variant Pathogenic rs281865496 GRCh37 Chromosome 16, 66551082: 66551082
28 TK2 NM_004614.4(TK2): c.604_606delAAG (p.Lys202del) deletion Pathogenic rs281865501 GRCh37 Chromosome 16, 66551051: 66551053
29 TK2 NM_004614.4(TK2): c.644T> C (p.Leu215Pro) single nucleotide variant Pathogenic rs281865497 GRCh37 Chromosome 16, 66547689: 66547689
30 TK2 NM_004614.4(TK2): c.760C> T (p.Arg254Ter) single nucleotide variant Pathogenic rs281865498 GRCh37 Chromosome 16, 66545909: 66545909
31 TK2 NM_004614.4(TK2): c.8dupT (p.Trp4Valfs) duplication Pathogenic rs281865502 GRCh37 Chromosome 16, 66583957: 66583957
32 TK2 TK2, 8-BP DUP duplication Pathogenic

Expression for Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form

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Pathways for Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form

GO Terms for Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form

Sources for Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form

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