MCID: MTC195
MIFTS: 19

Mitochondrial Oxidative Phosphorylation Disorder

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Mitochondrial Oxidative Phosphorylation Disorder

MalaCards integrated aliases for Mitochondrial Oxidative Phosphorylation Disorder:

Name: Mitochondrial Oxidative Phosphorylation Disorder 58 6
Oxphos Disease 58

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Orphanet 58 ORPHA223713

Summaries for Mitochondrial Oxidative Phosphorylation Disorder

MalaCards based summary : Mitochondrial Oxidative Phosphorylation Disorder, also known as oxphos disease, is related to mitochondrial disorders and lactic acidosis. An important gene associated with Mitochondrial Oxidative Phosphorylation Disorder is MTFMT (Mitochondrial Methionyl-TRNA Formyltransferase). Affiliated tissues include heart, skeletal muscle and testes, and related phenotype is Mildly decreased CFP-tsO45G cell surface transport.

Related Diseases for Mitochondrial Oxidative Phosphorylation Disorder

Diseases in the Mitochondrial Oxidative Phosphorylation Disorder family:

Mitochondrial Oxidative Phosphorylation Disorder Due to Nuclear Dna Anomalies Mitochondrial Oxidative Phosphorylation Disorder Due to a Large-Scale Single Deletion of Mitochondrial Dna
Mitochondrial Oxidative Phosphorylation Disorder Due to Mitochondrial Dna Anomalies Mitochondrial Oxidative Phosphorylation Disorder Due to a Point Mutation of Mitochondrial Dna

Diseases related to Mitochondrial Oxidative Phosphorylation Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 mitochondrial disorders 29.1 RMND1 MTFMT
2 lactic acidosis 28.8 RMND1 MTO1
3 mitochondrial metabolism disease 27.4 SERAC1 RMND1 NUBPL MTO1 MTFMT
4 mitochondrial oxidative phosphorylation disorder due to nuclear dna anomalies 12.6
5 mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial dna 12.6
6 mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial dna 12.6
7 mitochondrial oxidative phosphorylation disorder due to mitochondrial dna anomalies 12.6
8 mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial dna 12.6
9 mitochondrial oxidative phosphorylation disorder with no known mechanism 12.5
10 ataxia and polyneuropathy, adult-onset 9.9
11 inherited metabolic disorder 9.9
12 hypotonia 9.9
13 mitochondrial dna-associated leigh syndrome and narp 9.9
14 mitochondrial complex i deficiency, nuclear type 1 9.6 NUBPL MTFMT
15 combined oxidative phosphorylation deficiency 9.5 RMND1 MTO1
16 leigh syndrome 9.4 SERAC1 NUBPL MTFMT

Graphical network of the top 20 diseases related to Mitochondrial Oxidative Phosphorylation Disorder:



Diseases related to Mitochondrial Oxidative Phosphorylation Disorder

Symptoms & Phenotypes for Mitochondrial Oxidative Phosphorylation Disorder

GenomeRNAi Phenotypes related to Mitochondrial Oxidative Phosphorylation Disorder according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Mildly decreased CFP-tsO45G cell surface transport GR00360-A-1 8.92 MTFMT MTO1 RMND1 SERAC1

Drugs & Therapeutics for Mitochondrial Oxidative Phosphorylation Disorder

Search Clinical Trials , NIH Clinical Center for Mitochondrial Oxidative Phosphorylation Disorder

Genetic Tests for Mitochondrial Oxidative Phosphorylation Disorder

Anatomical Context for Mitochondrial Oxidative Phosphorylation Disorder

MalaCards organs/tissues related to Mitochondrial Oxidative Phosphorylation Disorder:

40
Heart, Skeletal Muscle, Testes

Publications for Mitochondrial Oxidative Phosphorylation Disorder

Articles related to Mitochondrial Oxidative Phosphorylation Disorder:

(show all 15)
# Title Authors PMID Year
1
The MELAS mutation m.3243A>G alters the expression of mitochondrial tRNA fragments. 61
31195049 2019
2
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. 61
29917077 2018
3
OXPHOS mutations and neurodegeneration. 61
23149385 2013
4
Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. 61
17400793 2007
5
mtDNA point mutations are present at various levels of heteroplasmy in human oocytes. 61
17259224 2007
6
Assaying the probabilities of obtaining maternally inherited heteroplasmy as the basis for modeling OXPHOS diseases in animals. 61
16829232 2006
7
The transmission of OXPHOS disease and methods to prevent this. 61
16199488 2006
8
Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders. 61
16399500 2006
9
Frataxin interacts functionally with mitochondrial electron transport chain proteins. 61
15961414 2005
10
Mitochondrial encephalomyopathies. 61
12638726 2003
11
Metabolic testing in mitochondrial disease. 61
11641820 2001
12
Up-regulation of nuclear and mitochondrial genes in the skeletal muscle of mice lacking the heart/muscle isoform of the adenine nucleotide translocator. 61
10318868 1999
13
Oxidative phosphorylation disease diagnosis. 61
10672229 1999
14
Renal amino acid transport in adults with oxidative phosphorylation diseases. 61
7783407 1995
15
Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies. 61
2168748 1990

Variations for Mitochondrial Oxidative Phosphorylation Disorder

ClinVar genetic disease variations for Mitochondrial Oxidative Phosphorylation Disorder:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MTFMT NM_139242.4(MTFMT):c.1100_1101del (p.Phe367fs)deletion Pathogenic 506018 rs754222633 15:65295469-65295470 15:65003131-65003132
2 MTO1 NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr)SNV Pathogenic/Likely pathogenic 35496 rs143747297 6:74191784-74191784 6:73482061-73482061
3 SERAC1 NM_032861.4(SERAC1):c.21C>A (p.Cys7Ter)SNV Likely pathogenic 505907 rs139301835 6:158579375-158579375 6:158158343-158158343
4 NUBPL NM_025152.3(NUBPL):c.2T>C (p.Met1Thr)SNV Likely pathogenic 517222 rs567437692 14:32030647-32030647 14:31561441-31561441
5 RMND1 NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)SNV Conflicting interpretations of pathogenicity 225255 rs144972972 6:151751289-151751289 6:151430154-151430154

Expression for Mitochondrial Oxidative Phosphorylation Disorder

Search GEO for disease gene expression data for Mitochondrial Oxidative Phosphorylation Disorder.

Pathways for Mitochondrial Oxidative Phosphorylation Disorder

GO Terms for Mitochondrial Oxidative Phosphorylation Disorder

Cellular components related to Mitochondrial Oxidative Phosphorylation Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.02 SERAC1 RMND1 NUBPL MTO1 MTFMT

Biological processes related to Mitochondrial Oxidative Phosphorylation Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 8.62 RMND1 MTFMT

Sources for Mitochondrial Oxidative Phosphorylation Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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