MCID: TK2001
MIFTS: 7

Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form

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
Tk2-Related Mitochondrial Dna Depletion Myopathy 23 24
Mitochondrial Dna Depletion Syndrome 2 24 69
Mtdps2 24

External Ids:

UMLS 69 C3149750

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

Genetics Home Reference : 24 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. 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:

# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 2 10.3

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

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:

# 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)
# 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_004614.4(TK2): c.388C> T (p.Arg130Trp) single nucleotide variant Pathogenic rs281865493 GRCh37 Chromosome 16, 66562958: 66562958
6 TK2 NM_001040138.2(CKLF): c.-7863_-2035delinsoAC010542.7: g.65062_65110 indel Pathogenic GRCh37 Chromosome 16, 66578756: 66584584
7 TK2 NM_004614.4(TK2): c.129_132delAGAA (p.Lys43Asnfs) deletion Pathogenic rs281865500 GRCh37 Chromosome 16, 66582905: 66582908
8 TK2 NM_004614.4(TK2): c.133C> T (p.Gln45Ter) single nucleotide variant Pathogenic rs281865486 GRCh37 Chromosome 16, 66582904: 66582904
9 TK2 NM_004614.4(TK2): c.142dupG (p.Glu48Glyfs) duplication Pathogenic rs281865503 GRCh37 Chromosome 16, 66582895: 66582895
10 TK2 NM_004614.4(TK2): c.150dupA (p.Ser51Ilefs) duplication Pathogenic rs281865504 GRCh37 Chromosome 16, 66582887: 66582887
11 TK2 NM_004614.4(TK2): c.156+2T> C single nucleotide variant Pathogenic rs281865499 GRCh37 Chromosome 16, 66582879: 66582879
12 TK2 NM_004614.4(TK2): c.173A> G (p.Asn58Ser) single nucleotide variant Pathogenic/Likely pathogenic rs138439950 GRCh37 Chromosome 16, 66575840: 66575840
13 TK2 NM_004614.4(TK2): c.191C> T (p.Thr64Met) single nucleotide variant Pathogenic rs281865487 GRCh37 Chromosome 16, 66575822: 66575822
14 TK2 NM_004614.4(TK2): c.198C> G (p.Cys66Trp) single nucleotide variant Pathogenic rs281865488 GRCh37 Chromosome 16, 66575815: 66575815
15 TK2 NM_004614.4(TK2): c.218_219dupCG (p.Thr74Argfs) duplication Pathogenic rs281865505 GRCh37 Chromosome 16, 66575794: 66575795
16 TK2 NM_004614.4(TK2): c.268C> T (p.Arg90Cys) single nucleotide variant Pathogenic/Likely pathogenic rs281865489 GRCh37 Chromosome 16, 66570884: 66570884
17 TK2 NM_004614.4(TK2): c.278A> G (p.Asn93Ser) single nucleotide variant Pathogenic rs142291440 GRCh37 Chromosome 16, 66570874: 66570874
18 TK2 NM_004614.4(TK2): c.334T> A (p.Tyr112Asn) single nucleotide variant Pathogenic rs281865490 GRCh37 Chromosome 16, 66565324: 66565324
19 TK2 NM_004614.4(TK2): c.335_336dupAT (p.Val113Metfs) duplication Pathogenic rs281865506 GRCh37 Chromosome 16, 66565322: 66565323
20 TK2 NM_004614.4(TK2): c.360_361delGCinsAA (p.His121Asn) indel Pathogenic rs281865507 GRCh37 Chromosome 16, 66565297: 66565298
21 TK2 NM_004614.4(TK2): c.373C> T (p.Gln125Ter) single nucleotide variant Pathogenic rs281865491 GRCh37 Chromosome 16, 66565285: 66565285
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

Search GEO for disease gene expression data for Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form.

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....