MCID: MTC021
MIFTS: 25

Mitochondrial Complex V Deficiency

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Mitochondrial Complex V Deficiency

MalaCards integrated aliases for Mitochondrial Complex V Deficiency:

Name: Mitochondrial Complex V Deficiency 12
Mitochondrial Complex V Deficiency 53 25
Atp Synthase Deficiency 25 37
Complex 5 Mitochondrial Respiratory Chain Deficiency 53
Complex V Deficiency 73

Classifications:



External Ids:

Disease Ontology 12 DOID:0111143
KEGG 37 H01369
UMLS 73 C0342779

Summaries for Mitochondrial Complex V Deficiency

Genetics Home Reference : 25 Mitochondrial complex V deficiency is a shortage (deficiency) of a protein complex called complex V or a loss of its function. Complex V is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Complex V is the last of five mitochondrial complexes that carry out a multistep process called oxidative phosphorylation, through which cells derive much of their energy.

MalaCards based summary : Mitochondrial Complex V Deficiency, also known as mitochondrial complex v deficiency, is related to leigh syndrome and isolated atp synthase deficiency. An important gene associated with Mitochondrial Complex V Deficiency is ATP5F1E (ATP Synthase F1 Subunit Epsilon), and among its related pathways/superpathways are Oxidative phosphorylation and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins..

Disease Ontology : 12 A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex.

Related Diseases for Mitochondrial Complex V Deficiency

Diseases related to Mitochondrial Complex V Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 leigh syndrome 30.5 ATP5F1E MT-ATP6 MT-ATP8
2 isolated atp synthase deficiency 29.5 ATP5F1A ATP5F1E ATPAF2 MT-ATP6 MT-ATP8 TMEM70
3 mitochondrial complex v deficiency, nuclear type 4 12.6
4 mitochondrial complex v deficiency, nuclear type 3 12.6
5 mitochondrial complex v deficiency, nuclear type 1 12.6
6 mitochondrial complex v deficiency, nuclear type 2 12.6
7 periodic paralysis with later-onset distal motor neuropathy 10.0 MT-ATP6 MT-ATP8
8 sideroblastic anemia acquired 10.0 MT-ATP6 MT-ATP8
9 striatonigral degeneration, infantile, mitochondrial 9.9 MT-ATP6 MT-ATP8
10 cardiomyopathy, infantile hypertrophic 9.9 MT-ATP6 MT-ATP8
11 myopathy, lactic acidosis, and sideroblastic anemia 3 9.9 MT-ATP6 MT-ATP8
12 striatonigral degeneration, infantile 9.9 MT-ATP6 MT-ATP8
13 ataxia and polyneuropathy, adult-onset 9.9 MT-ATP6 MT-ATP8
14 myopathy, lactic acidosis, and sideroblastic anemia 9.8 MT-ATP6 MT-ATP8
15 deafness, nonsyndromic sensorineural, mitochondrial 9.8 MT-ATP6 MT-ATP8
16 mitochondrial dna depletion syndrome 1 9.8 MT-ATP6 MT-ATP8
17 leber optic atrophy 9.8 MT-ATP6 MT-ATP8
18 familial colorectal cancer 9.7 MT-ATP6 MT-ATP8
19 mitochondrial disorders 9.5 ATP5F1A ATP5F1E MT-ATP6
20 kearns-sayre syndrome 9.5 MT-ATP6 MT-ATP8
21 3-methylglutaconic aciduria 9.3 ATPAF2 TMEM70
22 mitochondrial myopathy 9.2 MT-ATP6 MT-ATP8

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

Search Clinical Trials , 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

Articles related to Mitochondrial Complex V Deficiency:

# Title Authors Year
1
ATP synthase deficiency due to TMEM70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment. ( 26550569 )
2015
2
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis. ( 22986587 )
2012
3
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. ( 20566710 )
2010
4
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. ( 18953340 )
2008
5
Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria. ( 1287564 )
1992

Variations for Mitochondrial Complex V Deficiency

Copy number variations for Mitochondrial Complex V Deficiency from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 80936 13 99432319 99437020 Microdeletion ZIC2 ATP synthase 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

Pathways related to Mitochondrial Complex V Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Oxidative phosphorylation hsa00190

GO Terms for Mitochondrial Complex V Deficiency

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.72 ATP5F1A ATP5F1E ATPAF2 MT-ATP8 TMEM70
2 mitochondrial inner membrane GO:0005743 9.35 ATP5F1A ATP5F1E 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 ATP5F1A ATP5F1E
5 mitochondrial proton-transporting ATP synthase complex GO:0005753 8.92 ATP5F1A ATP5F1E MT-ATP6 MT-ATP8

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.62 ATP5F1A ATP5F1E MT-ATP6 MT-ATP8
2 ATP biosynthetic process GO:0006754 9.56 ATP5F1A ATP5F1E MT-ATP6 MT-ATP8
3 cristae formation GO:0042407 9.46 ATP5F1A ATP5F1E MT-ATP6 MT-ATP8
4 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.37 ATP5F1A ATP5F1E
5 ATP synthesis coupled proton transport GO:0015986 9.26 ATP5F1A ATP5F1E MT-ATP6 MT-ATP8
6 mitochondrial ATP synthesis coupled proton transport GO:0042776 8.92 ATP5F1A ATP5F1E MT-ATP6 MT-ATP8

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

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transporter activity GO:0015078 9.26 MT-ATP6 MT-ATP8
2 ATPase activity GO:0016887 9.26 ATP5F1A ATP5F1E MT-ATP6 MT-ATP8
3 proton-transporting ATP synthase activity, rotational mechanism GO:0046933 9.16 ATP5F1A ATP5F1E
4 transmembrane transporter activity GO:0022857 8.92 ATP5F1A ATP5F1E MT-ATP6 MT-ATP8

Sources for Mitochondrial Complex V Deficiency

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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