MCID: MTC140
MIFTS: 22

Mitochondrial Dna Maintenance Defects

Categories: Metabolic diseases, Rare diseases

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:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

Orphanet 59 ORPHA352456

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

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:



Diseases related to Mitochondrial Dna Maintenance Defects

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

Drugs & Therapeutics for Mitochondrial Dna Maintenance Defects

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

Genetic Tests for Mitochondrial Dna Maintenance Defects

Anatomical Context for Mitochondrial Dna Maintenance Defects

Publications for Mitochondrial Dna Maintenance Defects

Articles related to Mitochondrial Dna Maintenance Defects:

# Title Authors PMID Year
1
Mitochondrial DNA maintenance defects. 38 4
28215579 2017
2
Timing, rates and spectra of human germline mutation. 4
26656846 2016
3
Leigh syndrome caused by mitochondrial DNA-maintenance defects revealed by whole exome sequencing. 38
31271879 2019
4
Mitochondrial DNA Maintenance Defects Overview 38
29517884 2018
5
Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders. 38
23811324 2013

Variations for Mitochondrial Dna Maintenance Defects

Expression for Mitochondrial Dna Maintenance Defects

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

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
Show member pathways
10.94 TWNK TFAM POLG2

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

Sources for Mitochondrial Dna Maintenance Defects

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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