Isolated Atp Synthase Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Metabolic diseases Rare diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other metabolic disorders

Other specified metabolic disorders

Orphanet: ⁵⁹

Inborn errors of metabolism

External Ids:

Orphanet ⁵⁹ ORPHA254913

ICD10 via Orphanet ³⁴ E88.8

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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.

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Related Diseases for Isolated Atp Synthase Deficiency

Diseases related to Isolated Atp Synthase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)

#	Related Disease	Score	Top Affiliating Genes
1	mitochondrial complex v deficiency, nuclear type 2	11.4
2	tmem70 defect	11.4
3	sengers syndrome	11.4
4	mitochondrial complex v deficiency, nuclear type 5	9.9
5	mitochondrial disorders	9.9	ATP5F1A MT-ATP6
6	periodic paralysis with later-onset distal motor neuropathy	9.9	MT-ATP6 MT-ATP8
7	sideroblastic anemia acquired	9.9	MT-ATP6 MT-ATP8
8	striatonigral degeneration, infantile	9.9	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	myopathy, lactic acidosis, and sideroblastic anemia	9.8	MT-ATP6 MT-ATP8
13	ataxia and polyneuropathy, adult-onset	9.8	MT-ATP6 MT-ATP8
14	mitochondrial dna depletion syndrome 1	9.8	MT-ATP6 MT-ATP8
15	leber optic atrophy	9.8	MT-ATP6 MT-ATP8
16	deafness, nonsyndromic sensorineural, mitochondrial	9.8	MT-ATP6 MT-ATP8
17	familial colorectal cancer	9.8	MT-ATP6 MT-ATP8
18	mitochondrial metabolism disease	9.8	ATP5F1D ATP5F1E MT-ATP6
19	kearns-sayre syndrome	9.7	MT-ATP6 MT-ATP8
20	mitochondrial myopathy	9.6	MT-ATP6 MT-ATP8
21	leigh syndrome	9.6	ATP5F1E MT-ATP6 MT-ATP8

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

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Symptoms & Phenotypes for Isolated Atp Synthase Deficiency

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Drugs & Therapeutics for Isolated Atp Synthase Deficiency

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

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Genetic Tests for Isolated Atp Synthase Deficiency

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Anatomical Context for Isolated Atp Synthase Deficiency

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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 )	Cizkova A....Kmoch S.	2008

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Genes for Isolated Atp Synthase Deficiency

Genes related to Isolated Atp Synthase Deficiency (7 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ATP5F1D	ATP Synthase F1 Subunit Delta	Protein Coding	350	Causative germline mutation ⁵⁹
2	ATP5F1A	ATP Synthase F1 Subunit Alpha	Protein Coding	350	Causative germline mutation ⁵⁹
3	ATP5F1E	ATP Synthase F1 Subunit Epsilon	Protein Coding	350	Causative germline mutation ⁵⁹
4	ATPAF2	ATP Synthase Mitochondrial F1 Complex Assembly Factor 2	Protein Coding	350	Causative germline mutation ⁵⁹
5	MT-ATP8	Mitochondrially Encoded ATP Synthase Membrane Subunit 8	Protein Coding	350	Causative germline mutation ⁵⁹
6	MT-ATP6	Mitochondrially Encoded ATP Synthase Membrane Subunit 6	Protein Coding	350	Causative germline mutation ⁵⁹
7	ATPAF1	ATP Synthase Mitochondrial F1 Complex Assembly Factor 1	Protein Coding	25	Candidate gene tested ⁵⁹
8	TMEM70	Transmembrane Protein 70	Protein Coding	16.96	GeneCards inferred via : Publications (show sections)

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Variations for Isolated Atp Synthase Deficiency

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Expression for Isolated Atp Synthase Deficiency

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

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Pathways for Isolated Atp Synthase Deficiency

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

#	Super pathways	Score	Top Affiliating Genes
1	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. ⁶⁶ Show member pathways Alzheimer disease ³⁷ Alzheimers Disease ¹ Complex I biogenesis ⁶⁶ Electron Transport Chain ¹ Formation of ATP by chemiosmotic coupling ⁶⁶ Huntington disease ³⁷ Non-alcoholic fatty liver disease (NAFLD) ³⁷ Oxidative phosphorylation ³⁷ Oxidative phosphorylation ¹ Parkinson disease ³⁷ Respiratory electron transport ⁶⁶ The citric acid (TCA) cycle and respiratory electron transport ⁶⁶ Thermogenesis ³⁷	12.81	ATP5F1A ATP5F1D ATP5F1E MT-ATP6 MT-ATP8
2	purine nucleotides de novo biosynthesis ¹ Show member pathways adenosine ribonucleotides de novo biosynthesis ¹ guanosine nucleotides de novo biosynthesis ¹ guanosine ribonucleotides de novo biosynthesis ¹ superpathway of purine nucleotide salvage ¹	11.03	ATP5F1A ATP5F1D MT-ATP6 MT-ATP8
3	Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics ⁶¹	10.51	ATP5F1A ATP5F1D ATP5F1E

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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

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