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 60
Isolated Mitochondrial Respiratory Chain Complex V Deficiency 60

Characteristics:

Orphanet epidemiological data:

60
isolated atp synthase deficiency
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: early childhood,infantile;

Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 35 E88.8
Orphanet 60 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 ATP5F1D (ATP Synthase F1 Subunit Delta), 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.

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 9.87 ATP5F1A ATP5F1D ATP5F1E ATPAF1 ATPAF2 MT-ATP8
2 mitochondrial inner membrane GO:0005743 9.73 ATP5F1A ATP5F1D ATP5F1E MT-ATP6 MT-ATP8 TMEM70
3 mitochondrial matrix GO:0005759 9.58 ATP5F1A ATP5F1D ATP5F1E
4 proton-transporting ATP synthase complex, coupling factor F(o) GO:0045263 9.37 MT-ATP6 MT-ATP8
5 mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) GO:0000275 9.33 ATP5F1A ATP5F1D ATP5F1E
6 proton-transporting ATP synthase complex, catalytic core F(1) GO:0045261 9.13 ATP5F1A ATP5F1D ATP5F1E
7 mitochondrial proton-transporting ATP synthase complex GO:0005753 9.02 ATP5F1A ATP5F1D 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 9.77 ATP5F1A ATP5F1D ATP5F1E MT-ATP6 MT-ATP8
2 cristae formation GO:0042407 9.65 ATP5F1A ATP5F1D ATP5F1E MT-ATP6 MT-ATP8
3 ATP biosynthetic process GO:0006754 9.55 ATP5F1A ATP5F1D ATP5F1E MT-ATP6 MT-ATP8
4 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.5 ATP5F1A ATP5F1D ATP5F1E
5 mitochondrial proton-transporting ATP synthase complex assembly GO:0033615 9.4 ATPAF1 TMEM70
6 ATP synthesis coupled proton transport GO:0015986 9.35 ATP5F1A ATP5F1D ATP5F1E MT-ATP6 MT-ATP8
7 mitochondrial ATP synthesis coupled proton transport GO:0042776 9.02 ATP5F1A ATP5F1D 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 ATPase activity GO:0016887 9.35 ATP5F1A ATP5F1D ATP5F1E MT-ATP6 MT-ATP8
2 proton-transporting ATP synthase activity, rotational mechanism GO:0046933 9.33 ATP5F1A ATP5F1D ATP5F1E
3 ADP binding GO:0043531 9.32 ATP5F1A ATP5F1D
4 proton transmembrane transporter activity GO:0015078 9.26 MT-ATP6 MT-ATP8
5 transmembrane transporter activity GO:0022857 9.02 ATP5F1A ATP5F1D ATP5F1E MT-ATP6 MT-ATP8

Sources for Isolated Atp Synthase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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