MCID: MTC021
MIFTS: 16

Mitochondrial Complex V Deficiency malady

Categories: Rare diseases

Aliases & Classifications for Mitochondrial Complex V Deficiency

Aliases & Descriptions for Mitochondrial Complex V Deficiency:

Name: Mitochondrial Complex V Deficiency 50
Complex 5 Mitochondrial Respiratory Chain Deficiency 50

Classifications:



Summaries for Mitochondrial Complex V Deficiency

MalaCards based summary : Mitochondrial Complex V Deficiency, also known as complex 5 mitochondrial respiratory chain deficiency, is related to mitochondrial complex v deficiency, nuclear type 1 and mitochondrial complex v deficiency, nuclear type 2. An important gene associated with Mitochondrial Complex V Deficiency is ATPAF2 (ATP Synthase Mitochondrial F1 Complex Assembly Factor 2), 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.

Related Diseases for Mitochondrial Complex V Deficiency

Graphical network of the top 20 diseases related to Mitochondrial Complex V Deficiency:



Diseases related to Mitochondrial Complex V Deficiency

Symptoms & Phenotypes for Mitochondrial Complex V Deficiency

Drugs & Therapeutics for Mitochondrial Complex V Deficiency

Interventional clinical trials:


id Name Status NCT ID Phase
1 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940

Search NIH Clinical Center for Mitochondrial Complex V Deficiency

Genetic Tests for Mitochondrial Complex V Deficiency

Anatomical Context for Mitochondrial Complex V Deficiency

Publications for Mitochondrial Complex V Deficiency

Variations for Mitochondrial Complex V Deficiency

Expression for Mitochondrial Complex V Deficiency

Search GEO for disease gene expression data for Mitochondrial Complex V Deficiency.

Pathways for Mitochondrial Complex V Deficiency

GO Terms for Mitochondrial Complex V Deficiency

Cellular components related to Mitochondrial Complex V Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.72 ATP5A1 ATP5E ATPAF2 MT-ATP8 TMEM70
2 mitochondrial inner membrane GO:0005743 9.35 ATP5A1 ATP5E MT-ATP6 MT-ATP8 TMEM70
3 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.26 MT-ATP6 MT-ATP8
4 proton-transporting ATP synthase complex, catalytic core F(1) GO:0045261 9.16 ATP5A1 ATP5E
5 mitochondrial proton-transporting ATP synthase complex GO:0005753 8.92 ATP5A1 ATP5E MT-ATP6 MT-ATP8

Biological processes related to Mitochondrial Complex V Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.76 ATP5A1 ATP5E MT-ATP6 MT-ATP8
2 ion transport GO:0006811 9.67 ATP5A1 ATP5E MT-ATP6 MT-ATP8
3 proton transport GO:0015992 9.56 ATP5A1 ATP5E MT-ATP6 MT-ATP8
4 ATP biosynthetic process GO:0006754 9.46 ATP5A1 ATP5E MT-ATP6 MT-ATP8
5 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.43 ATP5A1 ATP5E
6 cristae formation GO:0042407 9.4 ATP5A1 ATP5E
7 response to hyperoxia GO:0055093 9.32 MT-ATP6 MT-ATP8
8 ATP synthesis coupled proton transport GO:0015986 9.26 ATP5A1 ATP5E MT-ATP6 MT-ATP8
9 mitochondrial ATP synthesis coupled proton transport GO:0042776 8.92 ATP5A1 ATP5E MT-ATP6 MT-ATP8

Molecular functions related to Mitochondrial Complex V Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 hydrogen ion transmembrane transporter activity GO:0015078 9.26 MT-ATP6 MT-ATP8
2 transmembrane transporter activity GO:0022857 9.26 ATP5A1 ATP5E MT-ATP6 MT-ATP8
3 proton-transporting ATP synthase activity, rotational mechanism GO:0046933 9.16 ATP5A1 ATP5E
4 ATPase activity GO:0016887 9.02 ATP5A1 ATP5E DNAH8 MT-ATP6 MT-ATP8

Sources for Mitochondrial Complex V Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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