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 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:

MalaCards categories:
Global: Metabolic diseases Rare diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other metabolic disorders

Other specified metabolic disorders

Orphanet: ⁵⁸

Inborn errors of metabolism

External Ids:

ICD10 via Orphanet ³³ E88.8

Orphanet ⁵⁸ ORPHA254913

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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 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.

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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 20)

#	Related Disease	Score	Top Affiliating Genes
1	mitochondrial complex v deficiency, nuclear type 2	11.9
2	tmem70 defect	11.6
3	sengers syndrome	11.5
4	mitochondrial complex v deficiency, nuclear type 3	10.0
5	3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome	9.9	TMEM70 ATPAF2
6	organic acidemia	9.8	TMEM70 ATPAF2
7	mitochondrial disorders	9.6	MT-ATP6 ATP5F1D ATP5F1A
8	mitochondrial complex v deficiency, nuclear type 5	9.6	TMEM70 ATP5F1E ATP5F1D ATP5F1A
9	hemiplegia	9.6	MT-ATP6 ATP5MD
10	periodic paralysis with later-onset distal motor neuropathy	9.6	MT-ATP8 MT-ATP6
11	myoclonic epilepsy associated with ragged-red fibers	9.5	TMEM70 MT-ATP6
12	thelaziasis	9.5	MT-ATP8 MT-ATP6
13	cardiomyopathy, infantile hypertrophic	9.5	MT-ATP8 MT-ATP6
14	mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	9.3	TMEM70 MT-ATP8 MT-ATP6
15	3-methylglutaconic aciduria, type iii	9.2	TMEM70 MT-ATP6 ATPAF2 ATP5F1E
16	neuropathy, ataxia, and retinitis pigmentosa	9.2	MT-ATP8 MT-ATP6 ATPAF2
17	leber optic atrophy	9.1	MT-ATP8 MT-ATP6 ATPAF2
18	3-methylglutaconic aciduria	8.9	TMEM70 MT-ATP8 ATPAF2 ATP5F1E ATP5F1D
19	mitochondrial metabolism disease	8.4	TMEM70 MT-ATP8 MT-ATP6 ATPAF2 ATP5F1E ATP5F1D
20	leigh syndrome	8.3	TMEM70 MT-ATP8 MT-ATP6 ATPAF2 ATP5MD ATP5F1E

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	PMID	Year
1	A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy. ⁶	Jonckheere AI...Rodenburg RJ	23599390	2013
2	Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. ⁶	Mayr JA...Houstek J	20566710	2010
3	Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. ⁶	De Meirleir L...Van Coster R	14757859	2004
4	Knockout of Tmem70 alters biogenesis of ATP synthase and leads to embryonal lethality in mice. ⁶¹	Vrbacky M...Houstek J	28173120	2016
5	TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. ⁶¹	Cizkova A...Kmoch S	18953340	2008

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Genes for Isolated Atp Synthase Deficiency

Genes related to Isolated Atp Synthase Deficiency (9 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	TMEM70	Transmembrane Protein 70	Protein Coding	406.41	Pathogenic ⁶ GeneCards inferred via : Publications (show sections)
2	ATP5F1A	ATP Synthase F1 Subunit Alpha	Protein Coding	350	Causative germline mutation ⁵⁸
3	ATP5F1D	ATP Synthase F1 Subunit Delta	Protein Coding	350	Causative germline mutation ⁵⁸
4	ATP5F1E	ATP Synthase F1 Subunit Epsilon	Protein Coding	350	Causative germline mutation ⁵⁸
5	ATP5MD	ATP Synthase Membrane Subunit DAPIT	Protein Coding	350	Causative germline mutation ⁵⁸
6	ATPAF2	ATP Synthase Mitochondrial F1 Complex Assembly Factor 2	Protein Coding	350	Causative germline mutation ⁵⁸
7	MT-ATP6	Mitochondrially Encoded ATP Synthase Membrane Subunit 6	Protein Coding	350	Causative germline mutation ⁵⁸
8	MT-ATP8	Mitochondrially Encoded ATP Synthase Membrane Subunit 8	Protein Coding	350	Causative germline mutation ⁵⁸
9	ATPAF1	ATP Synthase Mitochondrial F1 Complex Assembly Factor 1	Protein Coding	25	Candidate gene tested ⁵⁸

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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

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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. ⁶⁵ Show member pathways Complex I biogenesis ⁶⁵ Electron Transport Chain ¹ Formation of ATP by chemiosmotic coupling ⁶⁵ Non-alcoholic fatty liver disease (NAFLD) ³⁶ Oxidative phosphorylation ³⁶ Oxidative phosphorylation ¹ Respiratory electron transport ⁶⁵ The citric acid (TCA) cycle and respiratory electron transport ⁶⁵ Thermogenesis ³⁶	12.72	MT-ATP8 MT-ATP6 ATP5F1E ATP5F1D ATP5F1A
2	Parkinson disease ³⁶ Show member pathways Alzheimer disease ³⁶ Huntington disease ³⁶	12.52	MT-ATP8 MT-ATP6 ATP5F1E ATP5F1D ATP5F1A
3	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	11.37	MT-ATP8 MT-ATP6 ATP5F1D ATP5F1A
4	Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics ⁶⁰	10.18	ATP5F1E ATP5F1D ATP5F1A

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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	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

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Sources for Isolated Atp Synthase Deficiency

¹ BioSystems

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⁷⁴ Wikipedia