MCID: ISL082
MIFTS: 20

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 58
Isolated Mitochondrial Respiratory Chain Complex V Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
isolated atp synthase deficiency
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: early childhood,infantile;

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 33 E88.8
Orphanet 58 ORPHA254913

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, nuclear type 2 and tmem70 defect. An important gene associated with Isolated Atp Synthase Deficiency is TMEM70 (Transmembrane Protein 70), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Parkinson disease.

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 PMID Year
1
A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy. 6
23599390 2013
2
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. 6
20566710 2010
3
Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. 6
14757859 2004
4
Knockout of Tmem70 alters biogenesis of ATP synthase and leads to embryonal lethality in mice. 61
28173120 2016
5
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. 61
18953340 2008

Variations for Isolated Atp Synthase Deficiency

ClinVar genetic disease variations for Isolated Atp Synthase Deficiency:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMEM70 NM_017866.6(TMEM70):c.117_118dup (p.Ser40fs)duplication Pathogenic 203989 rs796052056 8:74888632-74888633 8:73976397-73976398

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 mitochondrial inner membrane GO:0005743 9.73 TMEM70 MT-ATP8 MT-ATP6 ATP5F1E ATP5F1D ATP5F1A
2 mitochondrial matrix GO:0005759 9.61 ATP5F1E ATP5F1D ATP5F1A
3 mitochondrion GO:0005739 9.61 TMEM70 MT-ATP8 MT-ATP6 ATPAF2 ATPAF1 ATP5MD
4 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.4 MT-ATP8 MT-ATP6
5 mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) GO:0000275 9.37 ATP5F1E ATP5F1D
6 proton-transporting ATP synthase complex, catalytic core F(1) GO:0045261 9.33 ATP5F1E ATP5F1D ATP5F1A
7 proton-transporting ATP synthase complex GO:0045259 9.32 MT-ATP6 ATP5F1A
8 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.1 MT-ATP8 MT-ATP6 ATP5MD ATP5F1E ATP5F1D ATP5F1A

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 9.77 MT-ATP8 MT-ATP6 ATP5F1E ATP5F1D ATP5F1A
2 cristae formation GO:0042407 9.65 MT-ATP8 MT-ATP6 ATP5F1E ATP5F1D ATP5F1A
3 ATP biosynthetic process GO:0006754 9.55 MT-ATP8 MT-ATP6 ATP5F1E ATP5F1D ATP5F1A
4 mitochondrial proton-transporting ATP synthase complex assembly GO:0033615 9.5 TMEM70 ATPAF1 ATP5F1D
5 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.35 MT-ATP8 MT-ATP6 ATP5F1E ATP5F1D ATP5F1A
6 ATP synthesis coupled proton transport GO:0015986 9.02 MT-ATP8 MT-ATP6 ATP5F1E ATP5F1D ATP5F1A

Molecular functions related to Isolated Atp Synthase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.33 ATP5F1E ATP5F1D ATP5F1A
2 ADP binding GO:0043531 9.26 ATP5F1D ATP5F1A
3 proton-transporting ATP synthase activity, rotational mechanism GO:0046933 9.02 MT-ATP8 MT-ATP6 ATP5F1E ATP5F1D ATP5F1A
4 proton transmembrane transporter activity GO:0015078 8.96 MT-ATP8 MT-ATP6

Sources for Isolated Atp Synthase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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