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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Mitochondrial Myopathies (D017240)
..Starting node ..MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
Child Nodes:
Sister Nodes:
..Combined Oxidative Phosphorylation Deficiency 3 (C566467)
..Mitochondrial cytopathy (C540770)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
..Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
..Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive (C567608)
..Mitochondrial Encephalomyopathies (D017237) 13
..Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport (C565376)
..Mitochondrial Myopathy with Diabetes (C564026)
..Mitochondrial myopathy with lactic acidosis (C537476)
..Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769)
..Myopathy, Mitochondrial, Lethal Infantile (C564017)
..Neuropathy ataxia and retinis pigmentosa (C537396)
..Ophthalmoplegia, Chronic Progressive External (D017246) 7
..Trifunctional Protein Deficiency With Myopathy And Neuropathy (C566945)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7313

Name:

MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)

Definition:

Alternative IDs:

ParentIDs:

MESH:D017240

TreeNumbers:

C05.651.460/609560 |C10.668.491.500/609560 |C18.452.660.560/609560

Synonyms:

MITOCHONDRIAL DNA DEPLETION MYOPATHY, TK2-RELATED |MTDPS2

Slim Mappings:

Metabolic disease|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: 609560
MeSH: 609560
OMIM: 609560;

Genes: TK2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0002134	Abnormality of the basal ganglia
4	HP:0003355	Aminoaciduria
5	HP:0002059	Cerebral atrophy
6	HP:0008972	Decreased activity of mitochondrial respiratory chain
7	HP:0002194	Delayed gross motor development
8	HP:0009141	Depletion of mitochondrial DNA in muscle tissue
9	HP:0003236	Elevated circulating creatine kinase concentration
10	HP:0003458	EMG: myopathic abnormalities
11	HP:0001349	Facial diplegia
12	HP:0003700	Generalized amyotrophy
13	HP:0001290	Generalized hypotonia
14	HP:0003391	Gowers sign
15	HP:0000365	Hearing impairment
16	HP:0001252	Hypotonia
17	HP:0006887	Intellectual disability, progressive
18	HP:0000737	Irritability
19	HP:0003128	Lactic acidosis
20	HP:0003690	Limb muscle weakness
21	HP:0008945	Loss of ability to walk in early childhood
22	HP:0003812	Phenotypic variability
23	HP:0003676	Progressive
24	HP:0003200	Ragged-red muscle fibers
25	HP:0002747	Respiratory insufficiency due to muscle weakness
26	HP:0001250	Seizure
27	HP:0003828	Variable expressivity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_004614.4(TK2):c.760C>T (p.Arg254Ter)	7084	TK2	Pathogenic	281865498	RCV000032256;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66545909	66545909	NM_004614.4:c.760C>T	NP_004605.4:p.Arg254Ter	NC_000016.9:g.66545909G>A	-	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_004614.4(TK2):c.644T>C (p.Leu215Pro)	7084	TK2	Pathogenic	281865497	RCV000032255;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66547689	66547689	NM_004614.4:c.644T>C	NP_004605.4:p.Leu215Pro	NC_000016.9:g.66547689A>G	-	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_004614.4(TK2):c.635T>A (p.Ile212Asn)	7084	TK2	Pathogenic	137854430	RCV000013546;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66547698	66547698	NM_004614.4:c.635T>A	NP_004605.4:p.Ile212Asn	NC_000016.9:g.66547698A>T	OMIM Allelic Variant:188250.0002	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_004614.4(TK2):c.604_606delAAG (p.Lys202del)	7084	TK2	Pathogenic	281865501	RCV000032254;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66551051	66551053	NM_004614.4:c.604_606delAAG	NP_004605.4:p.Lys202del	NC_000016.9:g.66551051_66551053delCTT	-	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_004614.4(TK2):c.575G>A (p.Arg192Lys)	7084	TK2	Pathogenic	281865496	RCV000032253;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66551082	66551082	NM_004614.4:c.575G>A	NP_004605.4:p.Arg192Lys	NC_000016.9:g.66551082C>T	-	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_004614.4(TK2):c.562A>G (p.Thr188Ala)	7084	TK2	Pathogenic	281865495	RCV000032252;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66551095	66551095	NM_004614.4:c.562A>G	NP_004605.4:p.Thr188Ala	NC_000016.9:g.66551095T>C	OMIM Allelic Variant:188250.0008	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_004614.4(TK2):c.547C>G (p.Arg183Gly)	7084	TK2	Pathogenic	137886900	RCV000032250;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66551110	66551110	NM_004614.4:c.547C>G	NP_004605.4:p.Arg183Gly	NC_000016.9:g.66551110G>A,NC_000016.9:g.66551110G>C	-	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_004614.4(TK2):c.547C>T (p.Arg183Trp)	7084	TK2	Pathogenic	137886900	RCV000032251; RCV000196381;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875; MedGen:CN221809	16	66551110	66551110	NM_004614.4:c.547C>T	NP_004605.4:p.Arg183Trp	NC_000016.9:g.66551110G>A,NC_000016.9:g.66551110G>C	OMIM Allelic Variant:188250.0007	C3149750 609560 Mitochondrial DNA depletion syndrome 2; CN221809 not provided
NM_004614.4(TK2):c.416C>T (p.Ala139Val)	7084	TK2	Pathogenic	281865494	RCV000032249; RCV000197645;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875; MedGen:CN221809	16	66562930	66562930	NM_004614.4:c.416C>T	NP_004605.4:p.Ala139Val	NC_000016.9:g.66562930G>A	-	C3149750 609560 Mitochondrial DNA depletion syndrome 2; CN221809 not provided
NM_004614.4(TK2):c.389G>A (p.Arg130Gln)	7084	TK2	Pathogenic	281865492	RCV000032248;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66562957	66562957	NM_004614.4:c.389G>A	NP_004605.4:p.Arg130Gln	NC_000016.9:g.66562957C>T	-	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_004614.4(TK2):c.388C>T (p.Arg130Trp)	7084	TK2	Pathogenic	281865493	RCV000032247;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66562958	66562958	NM_004614.4:c.388C>T	NP_004605.4:p.Arg130Trp	NC_000016.9:g.66562958G>A	-	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_004614.4(TK2):c.373C>T (p.Gln125Ter)	7084	TK2	Pathogenic	281865491	RCV000032246;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66565285	66565285	NM_004614.4:c.373C>T	NP_004605.4:p.Gln125Ter	NC_000016.9:g.66565285G>A	-	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_004614.4(TK2):c.361C>A (p.His121Asn)	7084	TK2	Pathogenic	137854429	RCV000013545; RCV000196185;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875; MedGen:CN221809	16	66565297	66565297	NM_004614.4:c.361C>A	NP_004605.4:p.His121Asn	NC_000016.9:g.66565297G>T	OMIM Allelic Variant:188250.0001	C3149750 609560 Mitochondrial DNA depletion syndrome 2; CN221809 not provided
NM_004614.4(TK2):c.360_361delGCinsAA (p.His121Asn)	7084	TK2	Pathogenic	281865507	RCV000032245;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66565297	66565298	NM_004614.4:c.360_361delGCinsAA	NP_004605.4:p.His121Asn	NC_000016.9:g.66565297_66565298delGCinsTT	-	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_004614.4(TK2):c.335_336dupAT (p.Val113Metfs)	7084	TK2	Pathogenic	281865506	RCV000032244;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66565322	66565323	NM_004614.4:c.335_336dupAT	NP_004605.4:p.Val113Metfs	NC_000016.9:g.66565322_66565323dupAT	-	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_004614.4(TK2):c.334T>A (p.Tyr112Asn)	7084	TK2	Pathogenic	281865490	RCV000032243;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66565324	66565324	NM_004614.4:c.334T>A	NP_004605.4:p.Tyr112Asn	NC_000016.9:g.66565324A>T	-	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_004614.4(TK2):c.323C>T (p.Thr108Met)	7084	TK2	Pathogenic	137854431	RCV000013547; RCV000199738;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875; MedGen:CN221809	16	66565335	66565335	NM_004614.4:c.323C>T	NP_004605.4:p.Thr108Met	NC_000016.9:g.66565335G>A	OMIM Allelic Variant:188250.0003	C3149750 609560 Mitochondrial DNA depletion syndrome 2; CN221809 not provided
NM_004614.4(TK2):c.278A>G (p.Asn93Ser)	7084	TK2	Pathogenic	142291440	RCV000032242;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66570874	66570874	NM_004614.4:c.278A>G	NP_004605.4:p.Asn93Ser	NC_000016.9:g.66570874T>C	-	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_004614.4(TK2):c.268C>T (p.Arg90Cys)	7084	TK2	Pathogenic	281865489	RCV000032241;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66570884	66570884	NM_004614.4:c.268C>T	NP_004605.4:p.Arg90Cys	NC_000016.9:g.66570884G>A	OMIM Allelic Variant:188250.0006	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_004614.4(TK2):c.218_219dupCG (p.Thr74Argfs)	7084	TK2	Pathogenic	281865505	RCV000032240;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66575794	66575795	NM_004614.4:c.218_219dupCG	NP_004605.4:p.Thr74Argfs	NC_000016.9:g.66575794_66575795dupCG	-	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_004614.4(TK2):c.198C>G (p.Cys66Trp)	7084	TK2	Pathogenic	281865488	RCV000032239;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66575815	66575815	NM_004614.4:c.198C>G	NP_004605.4:p.Cys66Trp	NC_000016.9:g.66575815G>C	-	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_004614.4(TK2):c.191C>T (p.Thr64Met)	7084	TK2	Pathogenic	281865487	RCV000032238;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66575822	66575822	NM_004614.4:c.191C>T	NP_004605.4:p.Thr64Met	NC_000016.9:g.66575822G>A	-	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_004614.4(TK2):c.173A>G (p.Asn58Ser)	7084	TK2	Pathogenic	138439950	RCV000032237;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66575840	66575840	NM_004614.4:c.173A>G	NP_004605.4:p.Asn58Ser	NC_000016.9:g.66575840T>C	-	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_004614.4(TK2):c.159C>G (p.Ile53Met)	7084	TK2	Pathogenic	137854432	RCV000013548;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66575854	66575854	NM_004614.4:c.159C>G	NP_004605.4:p.Ile53Met	NC_000016.9:g.66575854G>C	OMIM Allelic Variant:188250.0004	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_001040138.2(CKLF):c.-7863_-2035delinsoAC010542.7:g.65062_65110	7084	TK2	Pathogenic	-1	RCV000032231;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66578756	66584584	-	-		dbVar:nssv3761561,dbVar:nsv1067889	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_004614.4(TK2):c.156+2T>C	7084	TK2	Pathogenic	281865499	RCV000032236;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66582879	66582879	NM_004614.4:c.156+2T>C		NC_000016.9:g.66582879A>G	-	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_004614.4(TK2):c.150dupA (p.Ser51Ilefs)	7084	TK2	Pathogenic	281865504	RCV000032235;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66582887	66582887	NM_004614.4:c.150dupA	NP_004605.4:p.Ser51Ilefs	NC_000016.9:g.66582887dupT	-	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_004614.4(TK2):c.142dupG (p.Glu48Glyfs)	7084	TK2	Pathogenic	281865503	RCV000032234;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66582895	66582895	NM_004614.4:c.142dupG	NP_004605.4:p.Glu48Glyfs	NC_000016.9:g.66582895dupC	-	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_004614.4(TK2):c.133C>T (p.Gln45Ter)	7084	TK2	Pathogenic	281865486	RCV000032233;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66582904	66582904	NM_004614.4:c.133C>T	NP_004605.4:p.Gln45Ter	NC_000016.9:g.66582904G>A	-	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_004614.4(TK2):c.129_132delAGAA (p.Lys43Asnfs)	7084	TK2	Pathogenic	281865500	RCV000032232;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66582905	66582908	NM_004614.4:c.129_132delAGAA	NP_004605.4:p.Lys43Asnfs	NC_000016.9:g.66582905_66582908delTTCT	-	C3149750 609560 Mitochondrial DNA depletion syndrome 2
NM_004614.4(TK2):c.8dupT (p.Trp4Valfs)	7084	TK2	Pathogenic	281865502	RCV000032257;	N	MedGen:C3149750,OMIM:609560,ORPHA:254875	16	66583957	66583957	NM_004614.4:c.8dupT	NP_004605.4:p.Trp4Valfs	NC_000016.9:g.66583957dupA	-	C3149750 609560 Mitochondrial DNA depletion syndrome 2