MCID: ISL082
MIFTS: 19

Isolated Atp Synthase Deficiency

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Isolated Atp Synthase Deficiency

MalaCards integrated aliases for Isolated Atp Synthase Deficiency:

Name: Isolated Atp Synthase Deficiency 59
Isolated Mitochondrial Respiratory Chain Complex V Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
isolated atp synthase deficiency
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: early childhood,infantile;

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

Orphanet 59 ORPHA254913
ICD10 via Orphanet 34 E88.8

Summaries for Isolated Atp Synthase Deficiency

MalaCards based summary : Isolated Atp Synthase Deficiency, also known as isolated mitochondrial respiratory chain complex v deficiency, is related to mitochondrial complex v deficiency and mitochondrial complex v deficiency, nuclear type 2. An important gene associated with Isolated Atp Synthase Deficiency is MT-ATP8 (Mitochondrially Encoded ATP Synthase Membrane Subunit 8), 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 Isolated Atp Synthase Deficiency

Graphical network of the top 20 diseases related to Isolated Atp Synthase Deficiency:



Diseases related to Isolated Atp Synthase Deficiency

Symptoms & Phenotypes for Isolated Atp Synthase Deficiency

Drugs & Therapeutics for Isolated Atp Synthase Deficiency

Search Clinical Trials , NIH Clinical Center for Isolated Atp Synthase Deficiency

Genetic Tests for Isolated Atp Synthase Deficiency

Anatomical Context for Isolated Atp Synthase Deficiency

Publications for Isolated Atp Synthase Deficiency

Articles related to Isolated Atp Synthase Deficiency:

# Title Authors Year
1
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. ( 18953340 )
2008

Variations for Isolated Atp Synthase Deficiency

Expression for Isolated Atp Synthase Deficiency

Search GEO for disease gene expression data for Isolated Atp Synthase Deficiency.

Pathways for Isolated Atp Synthase Deficiency

GO Terms for Isolated Atp Synthase Deficiency

Cellular components related to Isolated Atp Synthase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.63 ATP5F1A ATP5F1E ATPAF1 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 9.32 MT-ATP6 MT-ATP8
4 proton-transporting ATP synthase complex, catalytic core F(1) GO:0045261 9.26 ATP5F1A ATP5F1E
5 mitochondrial proton-transporting ATP synthase complex GO:0005753 8.92 ATP5F1A ATP5F1E MT-ATP6 MT-ATP8

Biological processes related to Isolated Atp Synthase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.67 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 9.4 ATP5F1A ATP5F1E
5 mitochondrial proton-transporting ATP synthase complex assembly GO:0033615 9.32 ATPAF1 TMEM70
6 ATP synthesis coupled proton transport GO:0015986 9.26 ATP5F1A ATP5F1E MT-ATP6 MT-ATP8
7 mitochondrial ATP synthesis coupled proton transport GO:0042776 8.92 ATP5F1A ATP5F1E MT-ATP6 MT-ATP8

Molecular functions related to Isolated Atp Synthase 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 Isolated Atp Synthase 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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