MCID: MTC005
MIFTS: 45

Mitochondrial Metabolism Disease

Categories: Metabolic diseases

Aliases & Classifications for Mitochondrial Metabolism Disease

MalaCards integrated aliases for Mitochondrial Metabolism Disease:

Name: Mitochondrial Metabolism Disease 12 15
Abnormality of Mitochondrial Metabolism 29 6
Mitochondrial Diseases 44 73

Classifications:



External Ids:

Disease Ontology 12 DOID:700
MeSH 44 D028361
UMLS 73 C0751651

Summaries for Mitochondrial Metabolism Disease

Disease Ontology : 12 An inherited metabolic disorder that involves mitochondrial metabolism dysfunction.

MalaCards based summary : Mitochondrial Metabolism Disease, also known as abnormality of mitochondrial metabolism, is related to mitochondrial disorders and chronic progressive external ophthalmoplegia. An important gene associated with Mitochondrial Metabolism Disease is TWNK (Twinkle MtDNA Helicase), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and purine nucleotides de novo biosynthesis. Affiliated tissues include skeletal muscle, brain and endothelial.

Related Diseases for Mitochondrial Metabolism Disease

Diseases related to Mitochondrial Metabolism Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 139)
# Related Disease Score Top Affiliating Genes
1 mitochondrial disorders 33.6 MT-ATP6 OPA1 SLC25A4
2 chronic progressive external ophthalmoplegia 32.5 MT-TL2 POLG RRM2B SLC25A4 SPG7 TWNK
3 kearns-sayre syndrome 32.4 MT-ATP6 MT-CO2 MT-ND5 MT-TL1 POLG RRM2B
4 mitochondrial encephalomyopathy 32.2 MT-ATP6 MT-CO2 MT-ND5 MT-TL1 MT-TL2
5 mitochondrial myopathy 32.2 MT-ATP6 MT-CO2 MT-ND5 MT-TL1 MT-TL2 POLG
6 leigh syndrome 32.0 GFM2 MT-ATP6 MT-CO2 MT-ND5 MT-TL1 POLG
7 mitochondrial dna depletion syndrome 7 32.0 SLC25A4 TWNK
8 myoclonic epilepsy associated with ragged-red fibers 31.7 MT-ND5 MT-TL1 POLG TWNK
9 neuropathy 30.6 MT-ATP6 MT-ND5 POLG TWNK
10 optic nerve disease 30.4 MT-ATP6 MT-ND5 OPA1
11 leber hereditary optic neuropathy 30.3 MT-ATP6 MT-ND5 OPA1 YARS2
12 lactic acidosis 30.1 MT-ATP6 MT-ND5 POLG RMND1 YARS2
13 ptosis 29.8 OPA1 POLG RRM2B
14 hsd10 mitochondrial disease 12.2
15 rrm2b-related mitochondrial disease 12.1
16 mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia 11.9
17 combined oxidative phosphorylation deficiency 3 11.5
18 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 11.1
19 ataxia and polyneuropathy, adult-onset 11.1
20 hypotonia-cystinuria syndrome 11.0
21 mitochondrial complex i deficiency 11.0
22 mitochondrial complex ii deficiency 11.0
23 mohr-tranebjaerg syndrome 11.0
24 pearson marrow-pancreas syndrome 11.0
25 encephalopathy, ethylmalonic 11.0
26 mitochondrial complex iii deficiency, nuclear type 2 11.0
27 mitochondrial complex v deficiency, nuclear type 5 11.0
28 fatal infantile encephalocardiomyopathy 11.0
29 coenzyme q10 deficiency disease 11.0
30 mitochondrial complex iii deficiency 11.0
31 mitochondrial myopathy, lethal, infantile 10.9
32 sengers syndrome 10.8
33 leigh syndrome, french canadian type 10.8
34 combined oxidative phosphorylation deficiency 6 10.8
35 combined oxidative phosphorylation deficiency 1 10.8
36 combined oxidative phosphorylation deficiency 2 10.8
37 combined oxidative phosphorylation deficiency 4 10.8
38 combined oxidative phosphorylation deficiency 5 10.8
39 combined oxidative phosphorylation deficiency 7 10.8
40 combined oxidative phosphorylation deficiency 8 10.8
41 combined oxidative phosphorylation deficiency 9 10.8
42 combined oxidative phosphorylation deficiency 30 10.8
43 combined oxidative phosphorylation deficiency 31 10.8
44 lipidosis with triglycerid storage disease 10.8
45 maternally-inherited progressive external ophthalmoplegia 10.4 MT-TL1 MT-TL2 POLG TWNK
46 mitochondrial dna depletion syndrome 1 10.4 MT-ATP6 MT-CO2 POLG
47 mitochondrial dna depletion syndrome 10.4 POLG RRM2B TWNK
48 leber optic atrophy 10.4 MT-ATP6 MT-CO2 MT-ND5
49 ataxia neuropathy spectrum 10.4 POLG TWNK
50 ocular motility disease 10.4 POLG SLC25A4 TWNK

Graphical network of the top 20 diseases related to Mitochondrial Metabolism Disease:



Diseases related to Mitochondrial Metabolism Disease

Symptoms & Phenotypes for Mitochondrial Metabolism Disease

Drugs & Therapeutics for Mitochondrial Metabolism Disease

Search Clinical Trials , NIH Clinical Center for Mitochondrial Metabolism Disease

Cochrane evidence based reviews: mitochondrial diseases

Genetic Tests for Mitochondrial Metabolism Disease

Genetic tests related to Mitochondrial Metabolism Disease:

# Genetic test Affiliating Genes
1 Abnormality of Mitochondrial Metabolism 29

Anatomical Context for Mitochondrial Metabolism Disease

MalaCards organs/tissues related to Mitochondrial Metabolism Disease:

41
Skeletal Muscle, Brain, Endothelial, Heart, Kidney, Liver, Pancreas

Publications for Mitochondrial Metabolism Disease

Articles related to Mitochondrial Metabolism Disease:

(show top 50) (show all 328)
# Title Authors Year
1
Recent perspectives of pediatric mitochondrial diseases. ( 29375674 )
2018
2
Epilepsy management in mitochondrial diseases. ( 30266218 )
2018
3
Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers. ( 30373890 )
2018
4
Small fibre neuropathy in mitochondrial diseases explored with sudoscan. ( 29890373 )
2018
5
Mitochondrial diseases and status epilepticus. ( 30159903 )
2018
6
Do GSTM1 and GSTT1 polymorphisms influence the risk of developing mitochondrial diseases in a Tunisian population? ( 29235020 )
2018
7
Mitochondrial diseases. ( 29325608 )
2018
8
FGF-21 as a Potential Biomarker for Mitochondrial Diseases. ( 29332568 )
2018
9
Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA. ( 29344903 )
2018
10
The role of mitochondria in the female germline: Implications to fertility and inheritance of mitochondrial diseases. ( 29418047 )
2018
11
Novel Drosophila model for mitochondrial diseases by targeting of a solute carrier protein SLC25A46. ( 29604258 )
2018
12
Preventing Mitochondrial Diseases: Embryo-Sparing Donor-Independent Options. ( 29605176 )
2018
13
Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases. ( 29625556 )
2018
14
Mitochondrial Donation: A Boon or Curse for the Treatment of Incurable Mitochondrial Diseases. ( 29681709 )
2018
15
Recent perspectives of pediatric mitochondrial diseases. ( 29897052 )
2018
16
The Bacterial Protein CNF1 as a Potential Therapeutic Strategy against Mitochondrial Diseases: A Pilot Study. ( 29933571 )
2018
17
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience. ( 29974349 )
2018
18
Emerging therapies for mitochondrial diseases. ( 29980632 )
2018
19
Nutritional support in mitochondrial diseases: the state of the art. ( 30024619 )
2018
20
'Old' genome editors might treat mitochondrial diseases. ( 30262479 )
2018
21
Mitochondrial diseases caused by dysfunctional mitochondrial protein import. ( 30287509 )
2018
22
Cognitive characteristics of mitochondrial diseases in children. ( 30316150 )
2018
23
Mitochondrial diseases caused by mtDNA mutations: a mini-review. ( 30349272 )
2018
24
FoxO1-miRNA interacting networks as potential targets for mitochondrial diseases. ( 30367995 )
2018
25
Understanding molecular biology of codon usage in mitochondrial complex IV genes of electron transport system: Relevance to mitochondrial diseases. ( 30417339 )
2018
26
Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases. ( 30459337 )
2018
27
mTOR inhibitors may benefit kidney transplant recipients with mitochondrial diseases. ( 30471880 )
2018
28
Mitochondrial diseases: the contribution of organelle stress responses to pathology. ( 28792006 )
2018
29
The emerging role of immune dysfunction in mitochondrial diseases as a paradigm for understanding immunometabolism. ( 29162500 )
2018
30
A step forward in disease modelling for mitochondrial diseases. ( 29270415 )
2017
31
Cause of Death in Children With Mitochondrial Diseases. ( 27843091 )
2017
32
Growth Differentiation Factor 15 Is a Novel Diagnostic Biomarker of Mitochondrial Diseases. ( 27889897 )
2017
33
Treatable mitochondrial diseases: cofactor metabolism and beyond. ( 27993888 )
2017
34
Mitochondrial diseases: Yeast as a model for the study of suppressors. ( 28089773 )
2017
35
Sharpening the cutting edge: additional considerations for the UK debates on embryonic interventions for mitochondrial diseases. ( 28092013 )
2017
36
Mitochondrial diseases: advances and issues. ( 28243136 )
2017
37
Assessment of resting energy expenditure in pediatric mitochondrial diseases with indirect calorimetry. ( 28330626 )
2017
38
Understanding mitochondrial diseases. ( 28343800 )
2017
39
Melatonin and human mitochondrial diseases. ( 28400824 )
2017
40
Long-term Developmental Trends of Pediatric Mitochondrial Diseases: The Five Stages of Developmental Decline. ( 28567029 )
2017
41
Prohibitin 2/PHB2 in Parkin-mediated mitophagy: a potential therapeutic target for mitochondrial diseases. ( 28575194 )
2017
42
Mitochonic Acid 5 (MA-5) Facilitates ATP Synthase Oligomerization and Cell Survival in Various Mitochondrial Diseases. ( 28579242 )
2017
43
Myopathology of Adult and Paediatric Mitochondrial Diseases. ( 28677615 )
2017
44
Pediatric mitochondrial diseases and the heart. ( 28719387 )
2017
45
Mitochondrial Diseases as Model of Neurodegeneration. ( 28840556 )
2017
46
Therapies for mitochondrial diseases and current clinical trials. ( 28943110 )
2017
47
Mitochondrial diseases. ( 28987165 )
2017
48
Experience from the First Live-Birth Derived From Oocyte Nuclear Transfer as a Treatment Strategy for Mitochondrial Diseases. ( 29118824 )
2017
49
Enteral Tube Feeding in Paediatric Mitochondrial Diseases. ( 29203845 )
2017
50
Management of ophthalmologic manifestations of mitochondrial diseases. ( 29215643 )
2017

Variations for Mitochondrial Metabolism Disease

ClinVar genetic disease variations for Mitochondrial Metabolism Disease:

6 (show top 50) (show all 187)
# Gene Variation Type Significance SNP ID Assembly Location
1 TWNK NM_021830.4(TWNK): c.1075G> A (p.Ala359Thr) single nucleotide variant Pathogenic rs111033573 GRCh37 Chromosome 10, 102749042: 102749042
2 TWNK NM_021830.4(TWNK): c.1075G> A (p.Ala359Thr) single nucleotide variant Pathogenic rs111033573 GRCh38 Chromosome 10, 100989285: 100989285
3 TWNK NM_021830.4(TWNK): c.1142T> C (p.Leu381Pro) single nucleotide variant Pathogenic rs111033577 GRCh37 Chromosome 10, 102749109: 102749109
4 TWNK NM_021830.4(TWNK): c.1142T> C (p.Leu381Pro) single nucleotide variant Pathogenic rs111033577 GRCh38 Chromosome 10, 100989352: 100989352
5 TWNK NM_021830.4(TWNK): c.1001G> A (p.Arg334Gln) single nucleotide variant Pathogenic rs28937887 GRCh37 Chromosome 10, 102748968: 102748968
6 TWNK NM_021830.4(TWNK): c.1001G> A (p.Arg334Gln) single nucleotide variant Pathogenic rs28937887 GRCh38 Chromosome 10, 100989211: 100989211
7 OPA1 NM_015560.2(OPA1): c.2708_2711delTTAG (p.Val903Glyfs) deletion Pathogenic rs80356530 GRCh37 Chromosome 3, 193384959: 193384962
8 OPA1 NM_015560.2(OPA1): c.2708_2711delTTAG (p.Val903Glyfs) deletion Pathogenic rs80356530 GRCh38 Chromosome 3, 193667170: 193667173
9 OPA1 NM_015560.2(OPA1): c.1334G> A (p.Arg445His) single nucleotide variant Pathogenic rs80356529 GRCh37 Chromosome 3, 193361785: 193361785
10 OPA1 NM_015560.2(OPA1): c.1334G> A (p.Arg445His) single nucleotide variant Pathogenic rs80356529 GRCh38 Chromosome 3, 193643996: 193643996
11 MT-TK m.8344A> G single nucleotide variant Conflicting interpretations of pathogenicity rs118192098 GRCh37 Chromosome MT, 8344: 8344
12 MT-TK m.8344A> G single nucleotide variant Conflicting interpretations of pathogenicity rs118192098 GRCh38 Chromosome MT, 8344: 8344
13 MT-TL1 NC_012920.1: m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh37 Chromosome MT, 3243: 3243
14 MT-TL1 NC_012920.1: m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh38 Chromosome MT, 3243: 3243
15 MT-TE m.14709T> C single nucleotide variant Pathogenic rs121434453 GRCh37 Chromosome MT, 14709: 14709
16 MT-TE m.14709T> C single nucleotide variant Pathogenic rs121434453 GRCh38 Chromosome MT, 14709: 14709
17 MT-TE m.14674T> C single nucleotide variant Pathogenic rs387906421 GRCh37 Chromosome MT, 14674: 14674
18 MT-TE m.14674T> C single nucleotide variant Pathogenic rs387906421 GRCh38 Chromosome MT, 14674: 14674
19 MT-ATP6 m.8993T> G single nucleotide variant Pathogenic rs199476133 GRCh37 Chromosome MT, 8993: 8993
20 MT-ATP6 m.8993T> G single nucleotide variant Pathogenic rs199476133 GRCh38 Chromosome MT, 8993: 8993
21 MT-ATP6 m.8993T> C single nucleotide variant Pathogenic rs199476133 GRCh37 Chromosome MT, 8993: 8993
22 MT-ATP6 m.8993T> C single nucleotide variant Pathogenic rs199476133 GRCh38 Chromosome MT, 8993: 8993
23 MT-ATP6 m.9185T> C single nucleotide variant Pathogenic rs199476138 GRCh37 Chromosome MT, 9185: 9185
24 MT-ATP6 m.9185T> C single nucleotide variant Pathogenic rs199476138 GRCh38 Chromosome MT, 9185: 9185
25 MT-ND5; MT-TL1 m.13513G> A single nucleotide variant Pathogenic rs267606897 GRCh37 Chromosome MT, 13513: 13513
26 MT-ND5; MT-TL1 m.13513G> A single nucleotide variant Pathogenic rs267606897 GRCh38 Chromosome MT, 13513: 13513
27 POLG NM_002693.2(POLG): c.2864A> G (p.Tyr955Cys) single nucleotide variant Pathogenic rs113994099 GRCh37 Chromosome 15, 89864114: 89864114
28 POLG NM_002693.2(POLG): c.2864A> G (p.Tyr955Cys) single nucleotide variant Pathogenic rs113994099 GRCh38 Chromosome 15, 89320883: 89320883
29 POLG NM_002693.2(POLG): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994095 GRCh37 Chromosome 15, 89870432: 89870432
30 POLG NM_002693.2(POLG): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994095 GRCh38 Chromosome 15, 89327201: 89327201
31 POLG NM_002693.2(POLG): c.1760C> T (p.Pro587Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs113994096 GRCh37 Chromosome 15, 89868870: 89868870
32 POLG NM_002693.2(POLG): c.1760C> T (p.Pro587Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs113994096 GRCh38 Chromosome 15, 89325639: 89325639
33 POLG NM_002693.2(POLG): c.2243G> C (p.Trp748Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs113994097 GRCh37 Chromosome 15, 89866657: 89866657
34 POLG NM_002693.2(POLG): c.2243G> C (p.Trp748Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs113994097 GRCh38 Chromosome 15, 89323426: 89323426
35 POLG NM_002693.2(POLG): c.2209G> C (p.Gly737Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121918054 GRCh37 Chromosome 15, 89866691: 89866691
36 POLG NM_002693.2(POLG): c.2209G> C (p.Gly737Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121918054 GRCh38 Chromosome 15, 89323460: 89323460
37 SLC25A4 NM_001151.3(SLC25A4): c.368C> A (p.Ala123Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs121912683 GRCh37 Chromosome 4, 186066174: 186066174
38 SLC25A4 NM_001151.3(SLC25A4): c.368C> A (p.Ala123Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs121912683 GRCh38 Chromosome 4, 185145020: 185145020
39 POLG NM_002693.2(POLG): c.1636C> T (p.Arg546Cys) single nucleotide variant Benign/Likely benign rs2307447 GRCh37 Chromosome 15, 89869919: 89869919
40 POLG NM_002693.2(POLG): c.1636C> T (p.Arg546Cys) single nucleotide variant Benign/Likely benign rs2307447 GRCh38 Chromosome 15, 89326688: 89326688
41 POLG NM_002693.2(POLG): c.1984G> A (p.Glu662Lys) single nucleotide variant Benign/Likely benign rs2307450 GRCh37 Chromosome 15, 89867424: 89867424
42 POLG NM_002693.2(POLG): c.1984G> A (p.Glu662Lys) single nucleotide variant Benign/Likely benign rs2307450 GRCh38 Chromosome 15, 89324193: 89324193
43 POLG NM_002693.2(POLG): c.3424C> T (p.Arg1142Trp) single nucleotide variant Uncertain significance rs2307442 GRCh37 Chromosome 15, 89861830: 89861830
44 POLG NM_002693.2(POLG): c.3424C> T (p.Arg1142Trp) single nucleotide variant Uncertain significance rs2307442 GRCh38 Chromosome 15, 89318599: 89318599
45 FANCI; POLG NM_002693.2(POLG): c.3428A> G (p.Glu1143Gly) single nucleotide variant Benign/Likely benign rs2307441 GRCh37 Chromosome 15, 89861826: 89861826
46 FANCI; POLG NM_002693.2(POLG): c.3428A> G (p.Glu1143Gly) single nucleotide variant Benign/Likely benign rs2307441 GRCh38 Chromosome 15, 89318595: 89318595
47 POLG NM_002693.2(POLG): c.3436C> T (p.Arg1146Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs2307440 GRCh37 Chromosome 15, 89861818: 89861818
48 POLG NM_002693.2(POLG): c.3436C> T (p.Arg1146Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs2307440 GRCh38 Chromosome 15, 89318587: 89318587
49 POLG NM_002693.2(POLG): c.3488T> G (p.Met1163Arg) single nucleotide variant Pathogenic rs113994100 GRCh37 Chromosome 15, 89860762: 89860762
50 POLG NM_002693.2(POLG): c.3488T> G (p.Met1163Arg) single nucleotide variant Pathogenic rs113994100 GRCh38 Chromosome 15, 89317531: 89317531

Expression for Mitochondrial Metabolism Disease

Search GEO for disease gene expression data for Mitochondrial Metabolism Disease.

Pathways for Mitochondrial Metabolism Disease

GO Terms for Mitochondrial Metabolism Disease

Cellular components related to Mitochondrial Metabolism Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.61 ATP5F1D MT-ATP6 MT-CO2 MT-ND5 NDUFA6 OPA1
2 mitochondrial matrix GO:0005759 9.56 ATP5F1D GFM2 TWNK YARS2
3 mitochondrial membrane GO:0031966 9.5 NDUFA6 OPA1 TMEM126B
4 mitochondrion GO:0005739 9.47 ATP5F1D GFER GFM2 MT-CO2 MT-ND5 OPA1
5 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.16 ATP5F1D MT-ATP6

Biological processes related to Mitochondrial Metabolism Disease according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 mitochondrion organization GO:0007005 9.58 OPA1 SPG7 TWNK
2 cristae formation GO:0042407 9.51 ATP5F1D MT-ATP6
3 mitochondrial respiratory chain complex I assembly GO:0032981 9.5 MT-ND5 NDUFA6 TMEM126B
4 ATP biosynthetic process GO:0006754 9.49 ATP5F1D MT-ATP6
5 ATP synthesis coupled proton transport GO:0015986 9.48 ATP5F1D MT-ATP6
6 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.46 ATP5F1D MT-ATP6
7 response to hyperoxia GO:0055093 9.43 MT-ATP6 POLG
8 cellular response to glucose stimulus GO:0071333 9.43 OPA1 POLG TWNK
9 mitochondrial genome maintenance GO:0000002 9.37 OPA1 SLC25A4
10 DNA replication GO:0006260 9.26 POLG RRM2B TOP3A TWNK
11 ATP synthesis coupled electron transport GO:0042773 9.16 MT-CO2 MT-ND5
12 mitochondrial DNA replication GO:0006264 8.8 POLG RRM2B TWNK

Molecular functions related to Mitochondrial Metabolism Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 8.8 ATP5F1D MT-ATP6 SLC25A4

Sources for Mitochondrial Metabolism Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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