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

MCID: ISL082 MIFTS: 26	Isolated Atp Synthase Deficiency Categories: Metabolic diseases, Rare diseases, Respiratory diseases
Genes Variations Related diseases Publications Pathways Expand all tables

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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 ⁶

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
Anatomical: Respiratory 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 3 and mitochondrial complex v deficiency, nuclear type 2. An important gene associated with Isolated Atp Synthase Deficiency is ATPAF2 (ATP Synthase Mitochondrial F1 Complex Assembly Factor 2), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins..

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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 3	30.2	SLMO2-ATP5E ATP5F1E
2	mitochondrial complex v deficiency, nuclear type 2	11.4
3	tmem70 defect	11.4
4	sengers syndrome	11.3
5	3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome	10.1	TMEM70 ATPAF2
6	organic acidemia	10.1	TMEM70 ATPAF2
7	mitochondrial complex iv deficiency, nuclear type 5	9.9	MT-ATP6 ATP5F1A
8	hemiplegia	9.7	MT-ATP6 ATP5MK
9	periodic paralysis with later-onset distal motor neuropathy	9.7	MT-ATP8 MT-ATP6
10	mitochondrial complex v deficiency, nuclear type 5	9.7	TMEM70 ATP5F1E ATP5F1D ATP5F1A
11	thelaziasis	9.7	MT-ATP8 MT-ATP6
12	myoclonic epilepsy associated with ragged-red fibers	9.7	TMEM70 MT-ATP6
13	cardiomyopathy, infantile histiocytoid	9.7	MT-ATP8 MT-ATP6
14	cardiomyopathy, infantile hypertrophic	9.7	MT-ATP8 MT-ATP6
15	3-methylglutaconic aciduria, type iii	9.6	TMEM70 MT-ATP6 ATPAF2 ATP5F1E
16	neuropathy, ataxia, and retinitis pigmentosa	9.6	MT-ATP8 MT-ATP6 ATPAF2
17	leber hereditary optic neuropathy, modifier of	9.5	MT-ATP8 MT-ATP6 ATPAF2
18	mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	9.5	TMEM70 MT-ATP8 MT-ATP6
19	chronic progressive external ophthalmoplegia	9.5	MT-ATP8 MT-ATP6
20	3-methylglutaconic aciduria	9.3	TMEM70 MT-ATP8 ATPAF2 ATP5F1E ATP5F1D
21	leigh syndrome	8.9	TMEM70 MT-ATP8 MT-ATP6 ATPAF2 ATP5MK 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	TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. ⁶ ⁶¹	Cizkova A...Kmoch S	18953340	2008
2	TMEM70 deficiency: long-term outcome of 48 patients. ⁶	Magner M...Honzik T	25326274	2015
3	A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy. ⁶	Jonckheere AI...Rodenburg RJ	23599390	2013
4	Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization. ⁶	Cameron JM...Robinson BH	20920610	2011
5	Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. ⁶	Mayr JA...Houstek J	20566710	2010
6	Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation. ⁶	Honzik T...Zeman J	20335238	2010
7	Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. ⁶	De Meirleir L...Van Coster R	14757859	2004
8	Knockout of Tmem70 alters biogenesis of ATP synthase and leads to embryonal lethality in mice. ⁶¹	Vrbacky M...Houstek J	28173120	2016

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Genes for Isolated Atp Synthase Deficiency

Genes related to Isolated Atp Synthase Deficiency (10 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ATPAF2	ATP Synthase Mitochondrial F1 Complex Assembly Factor 2	Protein Coding	775	Pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶	14757859
2	ATP5F1A	ATP Synthase F1 Subunit Alpha	Protein Coding	750	Pathogenic ⁶ Causative germline mutation ⁵⁸	23599390
3	ATP5F1E	ATP Synthase F1 Subunit Epsilon	Protein Coding	750	Pathogenic ⁶ Causative germline mutation ⁵⁸	20566710
4	TMEM70	Transmembrane Protein 70	Protein Coding	407.5	Pathogenic ⁶ GeneCards inferred via : Publications (show sections)	20335238 18953340 25326274 (more) 20920610
5	SLMO2-ATP5E	SLMO2-ATP5E Readthrough	RNA Gene	400	Pathogenic ⁶	20566710
6	ATP5F1D	ATP Synthase F1 Subunit Delta	Protein Coding	350	Causative germline mutation ⁵⁸	29478781
7	ATP5MK	ATP Synthase Membrane Subunit K	Protein Coding	350	Causative germline mutation ⁵⁸	29917077
8	MT-ATP6	Mitochondrially Encoded ATP Synthase Membrane Subunit 6	Protein Coding	350	Causative germline mutation ⁵⁸	28412374
9	MT-ATP8	Mitochondrially Encoded ATP Synthase Membrane Subunit 8	Protein Coding	350	Causative germline mutation ⁵⁸	21686774
10	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 (show all 44)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ATPAF2	NM_145691.4(ATPAF2):c.280T>A (p.Trp94Arg)	SNV	Pathogenic	1995	rs104894554	GRCh37: 17:17931590-17931590 GRCh38: 17:18028276-18028276
2	ATP5F1E , SLMO2-ATP5E	NM_006886.4(ATP5F1E):c.35A>G (p.Tyr12Cys)	SNV	Pathogenic	30551	rs387906929	GRCh37: 20:57605482-57605482 GRCh38: 20:59030427-59030427
3	ATP5F1A	NM_004046.6(ATP5F1A):c.985C>T (p.Arg329Cys)	SNV	Pathogenic	50353	rs587776960	GRCh37: 18:43667165-43667165 GRCh38: 18:46087199-46087199
4	TMEM70	NM_017866.6(TMEM70):c.117_118dup (p.Ser40fs)	Duplication	Pathogenic	203989	rs796052056	GRCh37: 8:74888632-74888633 GRCh38: 8:73976397-73976398
5	ATPAF2	NM_145691.4(ATPAF2):c.98del (p.Ile33fs)	Deletion	Likely pathogenic	930235		GRCh37: 17:17942230-17942230 GRCh38: 17:18038916-18038916
6	ATPAF2	NM_145691.4(ATPAF2):c.389C>A (p.Ala130Glu)	SNV	Uncertain significance	214139	rs759676953	GRCh37: 17:17929666-17929666 GRCh38: 17:18026352-18026352
7	ATPAF2	NM_145691.4(ATPAF2):c.*194C>A	SNV	Uncertain significance	322091	rs143710995	GRCh37: 17:17921669-17921669 GRCh38: 17:18018355-18018355
8	ATPAF2	NM_145691.4(ATPAF2):c.*378A>T	SNV	Uncertain significance	322089	rs530700735	GRCh37: 17:17921485-17921485 GRCh38: 17:18018171-18018171
9	ATPAF2	NM_145691.4(ATPAF2):c.346T>C (p.Leu116=)	SNV	Uncertain significance	136466	rs144484457	GRCh37: 17:17929709-17929709 GRCh38: 17:18026395-18026395
10	ATPAF2	NM_145691.4(ATPAF2):c.133+1G>T	SNV	Uncertain significance	422342	rs147941728	GRCh37: 17:17942194-17942194 GRCh38: 17:18038880-18038880
11	ATPAF2	NM_145691.4(ATPAF2):c.40C>G (p.Arg14Gly)	SNV	Uncertain significance	214135	rs143241583	GRCh37: 17:17942288-17942288 GRCh38: 17:18038974-18038974
12	ATPAF2	NM_145691.4(ATPAF2):c.412G>A (p.Asp138Asn)	SNV	Uncertain significance	635075	rs1568572298	GRCh37: 17:17929643-17929643 GRCh38: 17:18026329-18026329
13	ATPAF2	NM_145691.4(ATPAF2):c.480A>C (p.Pro160=)	SNV	Uncertain significance	1027768		GRCh37: 17:17927961-17927961 GRCh38: 17:18024647-18024647
14	ATPAF2	NM_145691.4(ATPAF2):c.713G>A (p.Arg238His)	SNV	Uncertain significance	1032471		GRCh37: 17:17924456-17924456 GRCh38: 17:18021142-18021142
15	ATPAF2	NM_145691.4(ATPAF2):c.802G>A (p.Ala268Thr)	SNV	Uncertain significance	214138	rs368477064	GRCh37: 17:17921931-17921931 GRCh38: 17:18018617-18018617
16	ATPAF2	NM_145691.4(ATPAF2):c.*337T>C	SNV	Uncertain significance	322090	rs886052664	GRCh37: 17:17921526-17921526 GRCh38: 17:18018212-18018212
17	ATPAF2	NM_145691.4(ATPAF2):c.634G>T (p.Ala212Ser)	SNV	Uncertain significance	322095	rs141020107	GRCh37: 17:17924535-17924535 GRCh38: 17:18021221-18021221
18	ATPAF2	NM_145691.4(ATPAF2):c.*132C>T	SNV	Uncertain significance	322093	rs765325833	GRCh37: 17:17921731-17921731 GRCh38: 17:18018417-18018417
19	ATPAF2	NM_145691.4(ATPAF2):c.250G>A (p.Glu84Lys)	SNV	Uncertain significance	322096	rs373144265	GRCh37: 17:17931620-17931620 GRCh38: 17:18028306-18028306
20	ATPAF2	NM_145691.4(ATPAF2):c.-1G>T	SNV	Uncertain significance	322097	rs886052665	GRCh37: 17:17942328-17942328 GRCh38: 17:18039014-18039014
21	ATPAF2	NM_145691.4(ATPAF2):c.*108C>T	SNV	Uncertain significance	888801		GRCh37: 17:17921755-17921755 GRCh38: 17:18018441-18018441
22	ATPAF2	NM_145691.4(ATPAF2):c.*54C>T	SNV	Uncertain significance	888802		GRCh37: 17:17921809-17921809 GRCh38: 17:18018495-18018495
23	ATPAF2	NM_145691.4(ATPAF2):c.*26G>C	SNV	Uncertain significance	888803		GRCh37: 17:17921837-17921837 GRCh38: 17:18018523-18018523
24	ATPAF2	NM_145691.4(ATPAF2):c.565C>G (p.Arg189Gly)	SNV	Uncertain significance	890505		GRCh37: 17:17925110-17925110 GRCh38: 17:18021796-18021796
25	ATPAF2	NM_145691.4(ATPAF2):c.422+11T>C	SNV	Uncertain significance	890506		GRCh37: 17:17929622-17929622 GRCh38: 17:18026308-18026308
26	ATPAF2	NM_145691.4(ATPAF2):c.113G>T (p.Arg38Leu)	SNV	Uncertain significance	890507		GRCh37: 17:17942215-17942215 GRCh38: 17:18038901-18038901
27	ATPAF2	NM_145691.4(ATPAF2):c.*526C>T	SNV	Uncertain significance	891000		GRCh37: 17:17921337-17921337 GRCh38: 17:18018023-18018023
28	ATPAF2	NM_145691.4(ATPAF2):c.*485G>A	SNV	Uncertain significance	891001		GRCh37: 17:17921378-17921378 GRCh38: 17:18018064-18018064
29	ATPAF2	NM_145691.4(ATPAF2):c.-85C>T	SNV	Uncertain significance	891070		GRCh37: 17:17942412-17942412 GRCh38: 17:18039098-18039098
30	ATPAF2	NM_145691.4(ATPAF2):c.-90C>A	SNV	Uncertain significance	891071		GRCh37: 17:17942417-17942417 GRCh38: 17:18039103-18039103
31	ATPAF2	NM_145691.4(ATPAF2):c.-107G>T	SNV	Uncertain significance	891072		GRCh37: 17:17942434-17942434 GRCh38: 17:18039120-18039120
32	ATPAF2	NM_145691.4(ATPAF2):c.*250C>T	SNV	Uncertain significance	892222		GRCh37: 17:17921613-17921613 GRCh38: 17:18018299-18018299
33	ATPAF2	NM_145691.4(ATPAF2):c.*138G>A	SNV	Uncertain significance	892223		GRCh37: 17:17921725-17921725 GRCh38: 17:18018411-18018411
34	ATPAF2	NM_145691.4(ATPAF2):c.*137C>T	SNV	Uncertain significance	892224		GRCh37: 17:17921726-17921726 GRCh38: 17:18018412-18018412
35	ATPAF2	NM_145691.4(ATPAF2):c.-107G>A	SNV	Likely benign	322098	rs371822840	GRCh37: 17:17942434-17942434 GRCh38: 17:18039120-18039120
36	ATPAF2	NM_145691.4(ATPAF2):c.511G>A (p.Val171Met)	SNV	Benign/Likely benign	136467	rs62073570	GRCh37: 17:17925164-17925164 GRCh38: 17:18021850-18021850
37	ATPAF2	NM_145691.4(ATPAF2):c.*20C>G	SNV	Benign	214134	rs1128069	GRCh37: 17:17921843-17921843 GRCh38: 17:18018529-18018529
38	ATPAF2	NM_145691.4(ATPAF2):c.722A>G (p.Glu241Gly)	SNV	Benign	214133	rs34607655	GRCh37: 17:17924447-17924447 GRCh38: 17:18021133-18021133
39	ATPAF2	NM_145691.4(ATPAF2):c.738G>A (p.Gln246=)	SNV	Benign	136468	rs33997182	GRCh37: 17:17921995-17921995 GRCh38: 17:18018681-18018681
40	ATPAF2	NM_145691.4(ATPAF2):c.*165C>T	SNV	Benign	322092	rs34673242	GRCh37: 17:17921698-17921698 GRCh38: 17:18018384-18018384
41	ATPAF2	NM_145691.4(ATPAF2):c.-147G>A	SNV	Benign	322099	rs75249497	GRCh37: 17:17942474-17942474 GRCh38: 17:18039160-18039160
42	ATPAF2	NM_145691.4(ATPAF2):c.*456T>C	SNV	Benign	322088	rs77980072	GRCh37: 17:17921407-17921407 GRCh38: 17:18018093-18018093
43	ATPAF2	NM_145691.4(ATPAF2):c.*130T>C	SNV	Benign	322094	rs117739515	GRCh37: 17:17921733-17921733 GRCh38: 17:18018419-18018419
44	ATPAF2	NM_145691.4(ATPAF2):c.35G>A (p.Gly12Glu)	SNV	Benign	136469	rs149036879	GRCh37: 17:17942293-17942293 GRCh38: 17:18038979-18038979

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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	Pathways of neurodegeneration - multiple diseases ³⁶ Show member pathways Alzheimer disease ³⁶ Amyotrophic lateral sclerosis ³⁶ Huntington disease ³⁶	12.9	MT-ATP8 MT-ATP6 ATP5F1E ATP5F1D ATP5F1A
2	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. ⁶⁵ Show member pathways Complex I biogenesis ⁶⁵ Diabetic cardiomyopathy ³⁶ Electron Transport Chain ¹ Formation of ATP by chemiosmotic coupling ⁶⁵ Non-alcoholic fatty liver disease ³⁶ Oxidative phosphorylation ³⁶ Oxidative phosphorylation ¹ Respiratory electron transport ⁶⁵ The citric acid (TCA) cycle and respiratory electron transport ⁶⁵ Thermogenesis ³⁶	12.79	MT-ATP8 MT-ATP6 ATP5F1E ATP5F1D ATP5F1A
3	Prion disease ³⁶ Show member pathways Parkinson disease ³⁶	12.27	MT-ATP8 MT-ATP6 ATP5F1E ATP5F1D ATP5F1A
4	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
5	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 ATP5MK
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 ATP5MK 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	ATP biosynthetic process	GO:0006754	9.65	MT-ATP8 MT-ATP6 ATP5F1E ATP5F1D ATP5F1A
3	cristae formation	GO:0042407	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	ATP synthesis coupled proton transport	GO:0015986	9.35	MT-ATP8 MT-ATP6 ATP5F1E ATP5F1D ATP5F1A
6	mitochondrial ATP synthesis coupled proton transport	GO:0042776	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	9.43	ATP5F1E ATP5F1D ATP5F1A
2	ADP binding	GO:0043531	9.16	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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