Mitochondrial Dna Depletion Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MTDPS2 MCID: MTC062 MIFTS: 30	Mitochondrial Dna Depletion Syndrome 2 (MTDPS2) Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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 ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Mtdps2 ⁵⁷ ⁷⁵

Mitochondrial Dna Depletion Syndrome 2 Myopathic Type ⁷⁵

Mitochondrial Dna Depletion Syndrome, Myopathic Form ⁵⁹

Mitochondrial Dna Depletion Myopathy, Tk2-Related ⁵⁷

Mitochondrial Dna Depletion Myopathy Tk2-Related ⁷⁵

Myopathic Mitochondrial Dna Depletion Syndrome ⁷⁵

Mitochondrial Dna Depletion Syndrome, Type 2 ⁴⁰

Mtdna Depletion Syndrome, Myopathic Form ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal recessive

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

HPO:

³²

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

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Neuronal diseases Liver diseases Eye diseases Bone diseases Muscle diseases Gastrointestinal diseases Nephrological diseases Ear diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Mitochondrial myopathy, not elsewhere classified

Orphanet: ⁵⁹

Rare neurological diseases

Inborn errors of metabolism

External Ids:

OMIM ⁵⁷ 609560

Disease Ontology ¹² DOID:0080120

Orphanet ⁵⁹ ORPHA254875

ICD10 via Orphanet ³⁴ G71.3

UMLS via Orphanet ⁷⁴ C3501891

MedGen ⁴² C3149750

MeSH ⁴⁴ D017240

UMLS ⁷³ C3149750

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Summaries for Mitochondrial Dna Depletion Syndrome 2

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)

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

UniProtKB/Swiss-Prot : ⁷⁵ 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.

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Related Diseases for Mitochondrial Dna Depletion Syndrome 2

Diseases in the Mitochondrial Dna Deletion Syndromes 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 12a	Mitochondrial Dna Depletion Syndrome 12b
Mitochondrial Dna Depletion Syndrome	Rrm2b-Related Mitochondrial Dna Depletion Syndrome

Diseases related to Mitochondrial Dna Depletion Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	tk2-related mitochondrial dna depletion syndrome, myopathic form	11.5
2	tk2-related mitochondrial dna maintenance defect, myopathic form	11.4
3	mitochondrial dna depletion syndrome	10.2

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Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 2

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 2:

³² (show all 22)

#	Description	HPO Source Accession
1	seizures ³²	HP:0001250
2	muscular hypotonia ³²	HP:0001252
3	hearing impairment ³²	HP:0000365
4	aminoaciduria ³²	HP:0003355
5	respiratory insufficiency due to muscle weakness ³²	HP:0002747
6	elevated serum creatine phosphokinase ³²	HP:0003236
7	irritability ³²	HP:0000737
8	lactic acidosis ³²	HP:0003128
9	ragged-red muscle fibers ³²	HP:0003200
10	intellectual disability, progressive ³²	HP:0006887
11	facial diplegia ³²	HP:0001349
12	generalized hypotonia ³²	HP:0001290
13	limb muscle weakness ³²	HP:0003690
14	gowers sign ³²	HP:0003391
15	generalized amyotrophy ³²	HP:0003700
16	delayed gross motor development ³²	HP:0002194
17	cerebral atrophy ³²	HP:0002059
18	abnormality of the basal ganglia ³²	HP:0002134
19	decreased activity of mitochondrial respiratory chain ³²	HP:0008972
20	loss of ability to walk in early childhood ³²	HP:0008945
21	emg ³²	HP:0003458
22	depletion of mitochondrial dna in muscle tissue ³²	HP:0009141

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Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Treatment of TK2 Deficiency With Thymidine and Deoxycytidine	Enrolling by invitation	NCT03639701	Phase 1, Phase 2	Thymidine

Search NIH Clinical Center for Mitochondrial Dna Depletion Syndrome 2

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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

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Anatomical Context for Mitochondrial Dna Depletion Syndrome 2

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

⁴¹

Skeletal Muscle, Liver, Bone, Eye

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Publications for Mitochondrial Dna Depletion Syndrome 2

Articles related to Mitochondrial Dna Depletion Syndrome 2:

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

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Genes for Mitochondrial Dna Depletion Syndrome 2

Genes related to Mitochondrial Dna Depletion Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TK2	Thymidine Kinase 2, Mitochondrial	Protein Coding	1679.9	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	22345218 23230576 11687801 (more) 12493767 12391347 12873860 1734306 23303857

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Variations for Mitochondrial Dna Depletion Syndrome 2

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

⁷⁵

#	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

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 2:

⁶ (show top 50) (show all 70)

#	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.361C> A (p.His121Asn)	single nucleotide variant	Pathogenic	rs137854429	GRCh38	Chromosome 16, 66531394: 66531394
3	TK2	NM_004614.4(TK2): c.635T> A (p.Ile212Asn)	single nucleotide variant	Pathogenic	rs137854430	GRCh37	Chromosome 16, 66547698: 66547698
4	TK2	NM_004614.4(TK2): c.635T> A (p.Ile212Asn)	single nucleotide variant	Pathogenic	rs137854430	GRCh38	Chromosome 16, 66513795: 66513795
5	TK2	NM_004614.4(TK2): c.323C> T (p.Thr108Met)	single nucleotide variant	Pathogenic	rs137854431	GRCh37	Chromosome 16, 66565335: 66565335
6	TK2	NM_004614.4(TK2): c.323C> T (p.Thr108Met)	single nucleotide variant	Pathogenic	rs137854431	GRCh38	Chromosome 16, 66531432: 66531432
7	TK2	NM_004614.4(TK2): c.159C> G (p.Ile53Met)	single nucleotide variant	Pathogenic	rs137854432	GRCh37	Chromosome 16, 66575854: 66575854
8	TK2	NM_004614.4(TK2): c.159C> G (p.Ile53Met)	single nucleotide variant	Pathogenic	rs137854432	GRCh38	Chromosome 16, 66541951: 66541951
9	TK2	NM_004614.4: c.-270+2561delins;7287-7335inv	insertion	Pathogenic
10	TK2	NM_001040138.2(CKLF): c.-7863_-2035delinsoAC010542.7: g.65062_65110	indel	Pathogenic		GRCh37	Chromosome 16, 66578756: 66584584
11	TK2	NM_001040138.2(CKLF): c.-7863_-2035delinsoAC010542.7: g.65062_65110	indel	Pathogenic		GRCh38	Chromosome 16, 66544853: 66550681
12	TK2	NM_004614.4(TK2): c.129_132delAGAA (p.Lys43Asnfs)	deletion	Pathogenic	rs281865500	GRCh37	Chromosome 16, 66582905: 66582908
13	TK2	NM_004614.4(TK2): c.129_132delAGAA (p.Lys43Asnfs)	deletion	Pathogenic	rs281865500	GRCh38	Chromosome 16, 66549002: 66549005
14	TK2	NM_004614.4(TK2): c.133C> T (p.Gln45Ter)	single nucleotide variant	Pathogenic	rs281865486	GRCh37	Chromosome 16, 66582904: 66582904
15	TK2	NM_004614.4(TK2): c.133C> T (p.Gln45Ter)	single nucleotide variant	Pathogenic	rs281865486	GRCh38	Chromosome 16, 66549001: 66549001
16	TK2	NM_004614.4(TK2): c.142dupG (p.Glu48Glyfs)	duplication	Pathogenic	rs281865503	GRCh37	Chromosome 16, 66582895: 66582895
17	TK2	NM_004614.4(TK2): c.142dupG (p.Glu48Glyfs)	duplication	Pathogenic	rs281865503	GRCh38	Chromosome 16, 66548992: 66548992
18	TK2	NM_004614.4(TK2): c.150dupA (p.Ser51Ilefs)	duplication	Pathogenic	rs281865504	GRCh37	Chromosome 16, 66582887: 66582887
19	TK2	NM_004614.4(TK2): c.150dupA (p.Ser51Ilefs)	duplication	Pathogenic	rs281865504	GRCh38	Chromosome 16, 66548984: 66548984
20	TK2	NM_004614.4(TK2): c.156+2T> C	single nucleotide variant	Pathogenic	rs281865499	GRCh37	Chromosome 16, 66582879: 66582879
21	TK2	NM_004614.4(TK2): c.156+2T> C	single nucleotide variant	Pathogenic	rs281865499	GRCh38	Chromosome 16, 66548976: 66548976
22	TK2	NM_004614.4(TK2): c.173A> G (p.Asn58Ser)	single nucleotide variant	Likely pathogenic	rs138439950	GRCh37	Chromosome 16, 66575840: 66575840
23	TK2	NM_004614.4(TK2): c.173A> G (p.Asn58Ser)	single nucleotide variant	Likely pathogenic	rs138439950	GRCh38	Chromosome 16, 66541937: 66541937
24	TK2	NM_004614.4(TK2): c.191C> T (p.Thr64Met)	single nucleotide variant	Pathogenic	rs281865487	GRCh37	Chromosome 16, 66575822: 66575822
25	TK2	NM_004614.4(TK2): c.191C> T (p.Thr64Met)	single nucleotide variant	Pathogenic	rs281865487	GRCh38	Chromosome 16, 66541919: 66541919
26	TK2	NM_004614.4(TK2): c.198C> G (p.Cys66Trp)	single nucleotide variant	Pathogenic	rs281865488	GRCh37	Chromosome 16, 66575815: 66575815
27	TK2	NM_004614.4(TK2): c.198C> G (p.Cys66Trp)	single nucleotide variant	Pathogenic	rs281865488	GRCh38	Chromosome 16, 66541912: 66541912
28	TK2	NM_004614.4(TK2): c.218_219dupCG (p.Thr74Argfs)	duplication	Pathogenic	rs281865505	GRCh37	Chromosome 16, 66575794: 66575795
29	TK2	NM_004614.4(TK2): c.218_219dupCG (p.Thr74Argfs)	duplication	Pathogenic	rs281865505	GRCh38	Chromosome 16, 66541891: 66541892
30	TK2	NM_004614.4(TK2): c.268C> T (p.Arg90Cys)	single nucleotide variant	Likely pathogenic	rs281865489	GRCh37	Chromosome 16, 66570884: 66570884
31	TK2	NM_004614.4(TK2): c.268C> T (p.Arg90Cys)	single nucleotide variant	Likely pathogenic	rs281865489	GRCh38	Chromosome 16, 66536981: 66536981
32	TK2	NM_004614.4(TK2): c.278A> G (p.Asn93Ser)	single nucleotide variant	Pathogenic	rs142291440	GRCh37	Chromosome 16, 66570874: 66570874
33	TK2	NM_004614.4(TK2): c.278A> G (p.Asn93Ser)	single nucleotide variant	Pathogenic	rs142291440	GRCh38	Chromosome 16, 66536971: 66536971
34	TK2	NM_004614.4(TK2): c.334T> A (p.Tyr112Asn)	single nucleotide variant	Pathogenic	rs281865490	GRCh37	Chromosome 16, 66565324: 66565324
35	TK2	NM_004614.4(TK2): c.334T> A (p.Tyr112Asn)	single nucleotide variant	Pathogenic	rs281865490	GRCh38	Chromosome 16, 66531421: 66531421
36	TK2	NM_004614.4(TK2): c.335_336dupAT (p.Val113Metfs)	duplication	Pathogenic	rs281865506	GRCh37	Chromosome 16, 66565322: 66565323
37	TK2	NM_004614.4(TK2): c.335_336dupAT (p.Val113Metfs)	duplication	Pathogenic	rs281865506	GRCh38	Chromosome 16, 66531419: 66531420
38	TK2	NM_004614.4(TK2): c.360_361delGCinsAA (p.His121Asn)	indel	Pathogenic	rs281865507	GRCh37	Chromosome 16, 66565297: 66565298
39	TK2	NM_004614.4(TK2): c.360_361delGCinsAA (p.His121Asn)	indel	Pathogenic	rs281865507	GRCh38	Chromosome 16, 66531394: 66531395
40	TK2	NM_004614.4(TK2): c.373C> T (p.Gln125Ter)	single nucleotide variant	Pathogenic	rs281865491	GRCh37	Chromosome 16, 66565285: 66565285
41	TK2	NM_004614.4(TK2): c.373C> T (p.Gln125Ter)	single nucleotide variant	Pathogenic	rs281865491	GRCh38	Chromosome 16, 66531382: 66531382
42	TK2	NM_004614.4(TK2): c.388C> T (p.Arg130Trp)	single nucleotide variant	Pathogenic	rs281865493	GRCh37	Chromosome 16, 66562958: 66562958
43	TK2	NM_004614.4(TK2): c.388C> T (p.Arg130Trp)	single nucleotide variant	Pathogenic	rs281865493	GRCh38	Chromosome 16, 66529055: 66529055
44	TK2	NM_004614.4(TK2): c.389G> A (p.Arg130Gln)	single nucleotide variant	Pathogenic	rs281865492	GRCh37	Chromosome 16, 66562957: 66562957
45	TK2	NM_004614.4(TK2): c.389G> A (p.Arg130Gln)	single nucleotide variant	Pathogenic	rs281865492	GRCh38	Chromosome 16, 66529054: 66529054
46	TK2	NM_004614.4(TK2): c.760C> T (p.Arg254Ter)	single nucleotide variant	Pathogenic	rs281865498	GRCh38	Chromosome 16, 66512006: 66512006
47	TK2	NM_004614.4(TK2): c.416C> T (p.Ala139Val)	single nucleotide variant	Pathogenic/Likely pathogenic	rs281865494	GRCh37	Chromosome 16, 66562930: 66562930
48	TK2	NM_004614.4(TK2): c.416C> T (p.Ala139Val)	single nucleotide variant	Pathogenic/Likely pathogenic	rs281865494	GRCh38	Chromosome 16, 66529027: 66529027
49	TK2	NM_004614.4(TK2): c.547C> G (p.Arg183Gly)	single nucleotide variant	Pathogenic	rs137886900	GRCh37	Chromosome 16, 66551110: 66551110
50	TK2	NM_004614.4(TK2): c.547C> G (p.Arg183Gly)	single nucleotide variant	Pathogenic	rs137886900	GRCh38	Chromosome 16, 66517207: 66517207

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Expression for Mitochondrial Dna Depletion Syndrome 2

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

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Pathways for Mitochondrial Dna Depletion Syndrome 2

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GO Terms for Mitochondrial Dna Depletion Syndrome 2

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⁷⁶ Wikipedia

Mitochondrial Dna Depletion Syndrome 2 (MTDPS2)

Aliases & Classifications for Mitochondrial Dna Depletion Syndrome 2

MalaCards integrated aliases for Mitochondrial Dna Depletion Syndrome 2:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Mitochondrial Dna Depletion Syndrome 2

Related Diseases for Mitochondrial Dna Depletion Syndrome 2

Diseases in the Mitochondrial Dna Deletion Syndromes family:

Diseases related to Mitochondrial Dna Depletion Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Mitochondrial Dna Depletion Syndrome 2

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Mitochondrial Dna Depletion Syndrome 2:

Drugs & Therapeutics for Mitochondrial Dna Depletion Syndrome 2

Interventional clinical trials:

Genetic Tests for Mitochondrial Dna Depletion Syndrome 2

Genetic tests related to Mitochondrial Dna Depletion Syndrome 2:

Anatomical Context for Mitochondrial Dna Depletion Syndrome 2

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

Publications for Mitochondrial Dna Depletion Syndrome 2

Articles related to Mitochondrial Dna Depletion Syndrome 2:

Genes for Mitochondrial Dna Depletion Syndrome 2

Genes related to Mitochondrial Dna Depletion Syndrome 2 (1 elite genes):

Variations for Mitochondrial Dna Depletion Syndrome 2

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

ClinVar genetic disease variations for Mitochondrial Dna Depletion Syndrome 2:

Expression for Mitochondrial Dna Depletion Syndrome 2

Pathways for Mitochondrial Dna Depletion Syndrome 2

GO Terms for Mitochondrial Dna Depletion Syndrome 2

Sources for Mitochondrial Dna Depletion Syndrome 2