MCID: MTC140
MIFTS: 24

Mitochondrial Dna Maintenance Defects

Categories: Liver diseases, Metabolic diseases, Neuronal 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 58
Mtdna Maintenance Syndrome 58

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Orphanet 58 ORPHA352456

Summaries for Mitochondrial Dna Maintenance Defects

MalaCards based summary : Mitochondrial Dna Maintenance Defects, also known as mitochondrial dna maintenance syndrome, is related to mitochondrial dna depletion syndrome 2 and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1. 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. Affiliated tissues include liver, cortex and pancreas, and related phenotypes are cellular and adipose tissue

GeneReviews: NBK487393

Related Diseases for Mitochondrial Dna Maintenance Defects

Diseases in the Mitochondrial Dna Maintenance Defects family:

Mpv17-Related Mitochondrial Dna Maintenance Defect

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

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 2 30.2 TK2 DGUOK
2 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 30.2 TK2 POLG
3 mitochondrial dna depletion syndrome 14 30.0 OPA1 MGME1
4 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 29.9 TWNK POLG
5 lactic acidosis 29.8 POLG FBXL4 AGK
6 mitochondrial dna depletion syndrome 3 29.8 TWNK TK2 DGUOK
7 mitochondrial dna depletion syndrome 4a 29.7 POLG2 POLG DGUOK
8 peripheral nervous system disease 29.3 TWNK POLG OPA1
9 sengers syndrome 29.2 SLC25A4 AGK
10 mitochondrial dna depletion syndrome 29.1 TWNK TK2 POLG MPV17 FBXL4
11 leigh syndrome 27.9 TWNK TFAM POLG2 POLG MPV17 DGUOK
12 chronic progressive external ophthalmoplegia 27.8 TWNK SLC25A4 POLG2 POLG MPV17 MGME1
13 mitochondrial dna depletion syndrome 7 27.5 TWNK SLC25A4 POLG2 POLG MPV17 MGME1
14 kearns-sayre syndrome 26.8 TWNK TK2 TFAM SLC25A4 POLG2 POLG
15 mpv17-related mitochondrial dna maintenance defect 12.8
16 tk2-related mitochondrial dna maintenance defect, myopathic form 12.7
17 mitochondrial dna depletion syndrome 1 10.2 POLG MGME1
18 coenzyme q10 deficiency disease 10.1 TK2 POLG
19 mitochondrial dna depletion syndrome 6 10.1
20 myopathy 10.1
21 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome 10.1 POLG MPV17 AGK
22 ataxia neuropathy spectrum 10.1 TWNK POLG
23 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 10.1
24 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 10.1
25 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 10.1
26 neuropathy 10.1
27 polg-related disorders 10.0 TWNK POLG
28 myotonic cataract 10.0 TWNK POLG
29 mitochondrial dna depletion syndrome 4b 10.0 POLG2 POLG
30 mitochondrial dna depletion syndrome 12a 9.9 SLC25A4 POLG
31 visual cortex disease 9.9 POLG2 POLG
32 optic atrophy 1 9.9
33 behr syndrome 9.9
34 ataxia and polyneuropathy, adult-onset 9.9
35 aceruloplasminemia 9.9
36 gaba-transaminase deficiency 9.9
37 mitochondrial dna depletion syndrome 11 9.9
38 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 9.9
39 mitochondrial dna depletion syndrome 12b , autosomal recessive 9.9
40 mitochondrial dna depletion syndrome 13 9.9
41 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 9.9
42 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 9.9
43 mitochondrial dna depletion syndrome 15 9.9
44 mitochondrial dna depletion syndrome 12a , autosomal dominant 9.9
45 pediatric hepatocellular carcinoma 9.9
46 microcephaly 9.9
47 respiratory failure 9.9
48 hypoparathyroidism 9.9
49 nephrocalcinosis 9.9
50 cholestasis 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.9 DNA2 MGME1 MPV17 OPA1 POLG POLG2
2 adipose tissue MP:0005375 9.8 DGUOK MGME1 MPV17 OPA1 POLG TFAM
3 mortality/aging MP:0010768 9.65 ABAT DNA2 MPV17 OPA1 POLG POLG2
4 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

MalaCards organs/tissues related to Mitochondrial Dna Maintenance Defects:

40
Liver, Cortex, Pancreas

Publications for Mitochondrial Dna Maintenance Defects

Articles related to Mitochondrial Dna Maintenance Defects:

# Title Authors PMID Year
1
Mitochondrial DNA maintenance defects. 61 24
28215579 2017
2
Timing, rates and spectra of human germline mutation. 24
26656846 2016
3
Leigh syndrome caused by mitochondrial DNA-maintenance defects revealed by whole exome sequencing. 61
31271879 2019
4
Mitochondrial DNA Maintenance Defects Overview 61
29517884 2018
5
Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders. 61
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 matrix GO:0005759 9.73 TWNK TK2 TFAM POLG2 DGUOK ABAT
2 mitochondrial inner membrane GO:0005743 9.67 SLC25A4 OPA1 MPV17 AGK
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 9.33 POLG2 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 deoxyribonucleoside monophosphate biosynthetic process GO:0009157 9.4 TK2 DGUOK
13 DNA replication, removal of RNA primer GO:0043137 9.37 RNASEH1 DNA2
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 nuclease activity GO:0004518 9.43 RNASEH1 MGME1 DNA2
2 DNA-directed DNA polymerase activity GO:0003887 9.32 POLG2 POLG
3 5'-3' DNA helicase activity GO:0043139 9.16 TWNK DNA2
4 nucleoside kinase activity GO:0019206 8.96 TK2 DGUOK
5 deoxynucleoside kinase activity GO:0019136 8.62 TK2 DGUOK

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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