MCID: MTC195
MIFTS: 15

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 59 6
Oxphos Disease 59

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

Orphanet 59 ORPHA223713

Summaries for Mitochondrial Oxidative Phosphorylation Disorder

MalaCards based summary : Mitochondrial Oxidative Phosphorylation Disorder, also known as oxphos disease, is related to mitochondrial oxidative phosphorylation disorder due to nuclear dna anomalies and mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial dna. An important gene associated with Mitochondrial Oxidative Phosphorylation Disorder is NUBPL (Nucleotide Binding Protein Like). Affiliated tissues include heart, testes and skeletal muscle.

Related Diseases for Mitochondrial Oxidative Phosphorylation Disorder

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

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:

41
Heart, Testes, Skeletal Muscle

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. 38
31195049 2019
2
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. 38
29917077 2018
3
OXPHOS mutations and neurodegeneration. 38
23149385 2013
4
Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. 38
17400793 2007
5
mtDNA point mutations are present at various levels of heteroplasmy in human oocytes. 38
17259224 2007
6
Assaying the probabilities of obtaining maternally inherited heteroplasmy as the basis for modeling OXPHOS diseases in animals. 38
16829232 2006
7
The transmission of OXPHOS disease and methods to prevent this. 38
16199488 2006
8
Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders. 38
16399500 2006
9
Frataxin interacts functionally with mitochondrial electron transport chain proteins. 38
15961414 2005
10
Mitochondrial encephalomyopathies. 38
12638726 2003
11
Metabolic testing in mitochondrial disease. 38
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. 38
10318868 1999
13
Oxidative phosphorylation disease diagnosis. 38
10672229 1999
14
Renal amino acid transport in adults with oxidative phosphorylation diseases. 38
7783407 1995
15
Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies. 38
2168748 1990

Variations for Mitochondrial Oxidative Phosphorylation Disorder

ClinVar genetic disease variations for Mitochondrial Oxidative Phosphorylation Disorder:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NUBPL NM_025152.3(NUBPL): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic rs567437692 14:32030647-32030647 14:31561441-31561441

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

Sources for Mitochondrial Oxidative Phosphorylation Disorder

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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