Mitochondrial Dna Maintenance Defects disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Mitochondrial Dna Maintenance Defects

MalaCards integrated aliases for Mitochondrial Dna Maintenance Defects:

Name: Mitochondrial Dna Maintenance Defects ²⁴

Mitochondrial Dna Maintenance Syndrome ⁵⁹

Mtdna Maintenance Syndrome ⁵⁹

Classifications:

MalaCards categories:
Global: Metabolic diseases Rare diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Inborn errors of metabolism

External Ids:

Orphanet ⁵⁹ ORPHA352456

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Summaries for Mitochondrial Dna Maintenance Defects

MalaCards based summary : Mitochondrial Dna Maintenance Defects, also known as mitochondrial dna maintenance syndrome, is related to progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 and mitochondrial dna depletion syndrome 3. An important gene associated with Mitochondrial Dna Maintenance Defects is MPV17 (Mitochondrial Inner Membrane Protein MPV17), and among its related pathways/superpathways is Mitochondrial Gene Expression. Related phenotypes are cellular and adipose tissue

GeneReviews: NBK487393

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Related Diseases for Mitochondrial Dna Maintenance Defects

Diseases related to Mitochondrial Dna Maintenance Defects via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)

#	Related Disease	Score	Top Affiliating Genes
1	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1	30.3	TK2 POLG
2	mitochondrial dna depletion syndrome 3	30.1	TWNK DGUOK
3	congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	29.9	SLC25A4 AGK
4	sengers syndrome	29.9	SLC25A4 AGK
5	mitochondrial dna depletion syndrome 7	29.4	TWNK SLC25A4
6	mitochondrial dna depletion syndrome 4a	29.0	TWNK POLG2 POLG DGUOK
7	mitochondrial dna depletion syndrome	28.6	TWNK TK2 POLG MPV17 FBXL4 DGUOK
8	chronic progressive external ophthalmoplegia	28.5	TWNK SLC25A4 POLG2 POLG
9	kearns-sayre syndrome	28.2	TWNK TFAM SLC25A4 POLG
10	mpv17-related mitochondrial dna maintenance defect	12.8
11	tk2-related mitochondrial dna maintenance defect, myopathic form	12.7
12	mitochondrial dna depletion syndrome 6	10.1
13	myopathy	10.1
14	ataxia neuropathy spectrum	10.1	TWNK POLG
15	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2	10.1
16	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3	10.1
17	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4	10.1
18	peripheral nervous system disease	10.1
19	neuropathy	10.1
20	coenzyme q10 deficiency disease	10.0	TK2 POLG
21	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1	9.9
22	behr syndrome	9.9
23	leigh syndrome	9.9
24	ataxia and polyneuropathy, adult-onset	9.9
25	aceruloplasminemia	9.9
26	mitochondrial dna depletion syndrome 2	9.9
27	gaba-transaminase deficiency	9.9
28	mitochondrial dna depletion syndrome 11	9.9
29	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6	9.9
30	mitochondrial dna depletion syndrome 12b , autosomal recessive	9.9
31	mitochondrial dna depletion syndrome 13	9.9
32	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2	9.9
33	mitochondrial dna depletion syndrome 14	9.9
34	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3	9.9
35	mitochondrial dna depletion syndrome 15	9.9
36	mitochondrial dna depletion syndrome 12a , autosomal dominant	9.9
37	pediatric hepatocellular carcinoma	9.9
38	respiratory failure	9.9
39	hypoparathyroidism	9.9
40	nephrocalcinosis	9.9
41	cholestasis	9.9
42	sensory peripheral neuropathy	9.9
43	lactic acidosis	9.9
44	liver disease	9.9
45	dystonia	9.9
46	hypoglycemia	9.9
47	microcephaly	9.9
48	dysphagia	9.9
49	hypotonia	9.9
50	spasticity	9.9

Graphical network of the top 20 diseases related to Mitochondrial Dna Maintenance Defects:

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Symptoms & Phenotypes for Mitochondrial Dna Maintenance Defects

MGI Mouse Phenotypes related to Mitochondrial Dna Maintenance Defects:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	9.7	DNA2 MGME1 MPV17 OPA1 POLG POLG2
2	adipose tissue	MP:0005375	9.55	MPV17 OPA1 POLG TFAM TK2
3	muscle	MP:0005369	9.1	MPV17 OPA1 POLG SLC25A4 TFAM TK2

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Drugs & Therapeutics for Mitochondrial Dna Maintenance Defects

Search Clinical Trials , NIH Clinical Center for Mitochondrial Dna Maintenance Defects

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Genetic Tests for Mitochondrial Dna Maintenance Defects

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Anatomical Context for Mitochondrial Dna Maintenance Defects

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Publications for Mitochondrial Dna Maintenance Defects

Articles related to Mitochondrial Dna Maintenance Defects:

#	Title	Authors	PMID	Year
1	Mitochondrial DNA maintenance defects. ³⁸ ⁴	El-Hattab AW...Scaglia F	28215579	2017
2	Timing, rates and spectra of human germline mutation. ⁴	Rahbari R...Hurles ME	26656846	2016
3	Leigh syndrome caused by mitochondrial DNA-maintenance defects revealed by whole exome sequencing. ³⁸	Souza PVS...DiMauro S	31271879	2019
4	Mitochondrial DNA Maintenance Defects Overview ³⁸	El-Hattab AW...Scaglia F	29517884	2018
5	Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders. ³⁸	Palin EJ...Suomalainen A	23811324	2013

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Genes for Mitochondrial Dna Maintenance Defects

Genes related to Mitochondrial Dna Maintenance Defects (0 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	MPV17	Mitochondrial Inner Membrane Protein MPV17	Protein Coding	18.52	GeneCards inferred via : Publications (show sections)
2	TK2	Thymidine Kinase 2	Protein Coding	17.16	GeneCards inferred via : Publications (show sections)
3	ABAT	4-Aminobutyrate Aminotransferase	Protein Coding	16.81	GeneCards inferred via : Publications (show sections)
4	AGK	Acylglycerol Kinase	Protein Coding	16.81	GeneCards inferred via : Publications (show sections)
5	DGUOK	Deoxyguanosine Kinase	Protein Coding	16.81	GeneCards inferred via : Publications (show sections)
6	DNA2	DNA Replication Helicase/Nuclease 2	Protein Coding	16.81	GeneCards inferred via : Publications (show sections)
7	FBXL4	F-Box And Leucine Rich Repeat Protein 4	Protein Coding	16.81	GeneCards inferred via : Publications (show sections)
8	MGME1	Mitochondrial Genome Maintenance Exonuclease 1	Protein Coding	16.81	GeneCards inferred via : Publications (show sections)
9	OPA1	OPA1 Mitochondrial Dynamin Like GTPase	Protein Coding	16.81	GeneCards inferred via : Publications (show sections)
10	POLG	DNA Polymerase Gamma, Catalytic Subunit	Protein Coding	16.81	GeneCards inferred via : Publications (show sections)
11	POLG2	DNA Polymerase Gamma 2, Accessory Subunit	Protein Coding	16.81	GeneCards inferred via : Publications (show sections)
12	RNASEH1	Ribonuclease H1	Protein Coding	16.81	GeneCards inferred via : Publications (show sections)
13	SLC25A4	Solute Carrier Family 25 Member 4	Protein Coding	16.81	GeneCards inferred via : Publications (show sections)
14	TFAM	Transcription Factor A, Mitochondrial	Protein Coding	16.81	GeneCards inferred via : Publications (show sections)
15	TWNK	Twinkle MtDNA Helicase	Protein Coding	16.81	GeneCards inferred via : Publications (show sections)

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Variations for Mitochondrial Dna Maintenance Defects

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Expression for Mitochondrial Dna Maintenance Defects

Search GEO for disease gene expression data for Mitochondrial Dna Maintenance Defects.

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Pathways for Mitochondrial Dna Maintenance Defects

Pathways related to Mitochondrial Dna Maintenance Defects according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Mitochondrial Gene Expression ¹ Show member pathways Activation of PPARGC1A (PGC-1alpha) by phosphorylation ⁶⁶ Mitochondrial biogenesis ⁶⁶ Mitochondrial transcription initiation ⁶⁶ Mitochondrial transcription termination ⁶⁶ Transcription from mitochondrial promoters ⁶⁶ Transcriptional activation of mitochondrial biogenesis ⁶⁶	10.94	TWNK TFAM POLG2

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GO Terms for Mitochondrial Dna Maintenance Defects

Cellular components related to Mitochondrial Dna Maintenance Defects according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial inner membrane	GO:0005743	9.67	SLC25A4 OPA1 MPV17 AGK
2	mitochondrial matrix	GO:0005759	9.63	TWNK TK2 TFAM POLG2 DGUOK ABAT
3	mitochondrial intermembrane space	GO:0005758	9.5	OPA1 FBXL4 AGK
4	mitochondrion	GO:0005739	9.47	TWNK TK2 TFAM SLC25A4 POLG2 POLG
5	mitochondrial nucleoid	GO:0042645	9.35	TWNK TFAM POLG2 POLG DNA2
6	gamma DNA polymerase complex	GO:0005760	9.26	POLG DNA2

Biological processes related to Mitochondrial Dna Maintenance Defects according to GeneCards Suite gene sharing:

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	aging	GO:0007568	9.72	POLG OPA1 ABAT
2	nucleic acid phosphodiester bond hydrolysis	GO:0090305	9.69	POLG MGME1 DNA2
3	cellular response to glucose stimulus	GO:0071333	9.63	TWNK POLG OPA1
4	DNA replication	GO:0006260	9.62	TWNK POLG2 POLG DNA2
5	DNA-dependent DNA replication	GO:0006261	9.54	POLG2 POLG
6	mitochondrion morphogenesis	GO:0070584	9.52	POLG2 OPA1
7	nucleotide biosynthetic process	GO:0009165	9.49	TK2 DGUOK
8	mitochondrial transcription	GO:0006390	9.48	TWNK TFAM
9	mitochondrion organization	GO:0007005	9.46	TWNK TFAM POLG2 OPA1
10	mitochondrial DNA repair	GO:0043504	9.43	MGME1 DNA2
11	DNA biosynthetic process	GO:0071897	9.43	TK2 POLG2 POLG
12	DNA replication, removal of RNA primer	GO:0043137	9.4	RNASEH1 DNA2
13	deoxyribonucleoside monophosphate biosynthetic process	GO:0009157	9.37	TK2 DGUOK
14	mitochondrial genome maintenance	GO:0000002	9.26	SLC25A4 OPA1 MPV17 MGME1
15	mitochondrial DNA replication	GO:0006264	9.02	TWNK POLG2 POLG MGME1 DNA2

Molecular functions related to Mitochondrial Dna Maintenance Defects according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transferase activity	GO:0016740	9.88	TK2 POLG2 POLG DGUOK AGK ABAT
2	nuclease activity	GO:0004518	9.43	RNASEH1 MGME1 DNA2
3	DNA-directed DNA polymerase activity	GO:0003887	9.37	POLG2 POLG
4	DNA helicase activity	GO:0003678	9.32	TWNK DNA2
5	nucleoside kinase activity	GO:0019206	9.16	TK2 DGUOK
6	deoxynucleoside kinase activity	GO:0019136	8.96	TK2 DGUOK
7	5'-3' DNA helicase activity	GO:0043139	8.62	TWNK DNA2

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