MCID: ISL082
MIFTS: 26

Isolated Atp Synthase Deficiency

Categories: Metabolic diseases, Rare diseases, Respiratory diseases

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:

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 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..

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:



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
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. 6 61
18953340 2008
2
TMEM70 deficiency: long-term outcome of 48 patients. 6
25326274 2015
3
A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy. 6
23599390 2013
4
Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization. 6
20920610 2011
5
Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. 6
20566710 2010
6
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation. 6
20335238 2010
7
Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. 6
14757859 2004
8
Knockout of Tmem70 alters biogenesis of ATP synthase and leads to embryonal lethality in mice. 61
28173120 2016

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

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 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

Sources for Isolated Atp Synthase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....