MCID: CMB008
MIFTS: 22

Combined Oxidative Phosphorylation Deficiency

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency:

Name: Combined Oxidative Phosphorylation Deficiency 12 53 37 29 6 15 40

Classifications:



External Ids:

Disease Ontology 12 DOID:0060286
KEGG 37 H00891

Summaries for Combined Oxidative Phosphorylation Deficiency

NIH Rare Diseases : 53 Combined oxidative phosphorylation deficiency is a disease that affects many parts of the body. Onset occurs at or soon after birth in most cases, and features can include growth retardation, small head (microcephaly), increased muscle tone, floppiness of the trunk and head, brain disease (encephalopathy), enlarged heart muscle (cardiomyopathy), and liver dysfunction. There are many subtypes, caused by many different genemutations. It is inherited in an autosomal recessive pattern. Treatment is supportive.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency is related to combined oxidative phosphorylation deficiency 1 and combined oxidative phosphorylation deficiency 12. An important gene associated with Combined Oxidative Phosphorylation Deficiency is FARS2 (Phenylalanyl-TRNA Synthetase 2, Mitochondrial), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include liver, heart and brain.

Related Diseases for Combined Oxidative Phosphorylation Deficiency

Diseases related to Combined Oxidative Phosphorylation Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
# Related Disease Score Top Affiliating Genes
1 combined oxidative phosphorylation deficiency 1 12.7
2 combined oxidative phosphorylation deficiency 12 12.6
3 combined oxidative phosphorylation deficiency 8 12.6
4 combined oxidative phosphorylation deficiency 10 12.6
5 combined oxidative phosphorylation deficiency 11 12.6
6 combined oxidative phosphorylation deficiency 15 12.6
7 combined oxidative phosphorylation deficiency 16 12.6
8 combined oxidative phosphorylation deficiency 14 12.6
9 combined oxidative phosphorylation deficiency 18 12.6
10 combined oxidative phosphorylation deficiency 2 12.6
11 combined oxidative phosphorylation deficiency 3 12.6
12 combined oxidative phosphorylation deficiency 4 12.6
13 combined oxidative phosphorylation deficiency 5 12.6
14 combined oxidative phosphorylation deficiency 7 12.6
15 combined oxidative phosphorylation deficiency 9 12.6
16 combined oxidative phosphorylation deficiency 13 12.6
17 combined oxidative phosphorylation deficiency 23 12.6
18 combined oxidative phosphorylation deficiency 24 12.6
19 combined oxidative phosphorylation deficiency 6 12.6
20 combined oxidative phosphorylation deficiency 17 12.6
21 combined oxidative phosphorylation deficiency 19 12.6
22 combined oxidative phosphorylation deficiency 21 12.6
23 combined oxidative phosphorylation deficiency 34 12.6
24 combined oxidative phosphorylation deficiency 20 12.6
25 combined oxidative phosphorylation deficiency 22 12.6
26 combined oxidative phosphorylation deficiency 28 12.5
27 combined oxidative phosphorylation deficiency 31 12.5
28 combined oxidative phosphorylation deficiency 32 12.5
29 combined oxidative phosphorylation deficiency 33 12.5
30 combined oxidative phosphorylation deficiency 35 12.5
31 combined oxidative phosphorylation deficiency 25 12.5
32 combined oxidative phosphorylation deficiency 26 12.5
33 combined oxidative phosphorylation deficiency 27 12.5
34 combined oxidative phosphorylation deficiency 30 12.5
35 combined oxidative phosphorylation deficiency 29 12.5
36 combined oxidative phosphorylation deficiency 36 12.3
37 mitochondrial encephalomyopathy 9.2 AIFM1 FARS2
38 trehalase deficiency 8.2 AARS2 FARS2 RMND1 VARS2

Graphical network of the top 20 diseases related to Combined Oxidative Phosphorylation Deficiency:



Diseases related to Combined Oxidative Phosphorylation Deficiency

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency

Genetic Tests for Combined Oxidative Phosphorylation Deficiency

Genetic tests related to Combined Oxidative Phosphorylation Deficiency:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 29

Anatomical Context for Combined Oxidative Phosphorylation Deficiency

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency:

41
Liver, Heart, Brain

Publications for Combined Oxidative Phosphorylation Deficiency

Articles related to Combined Oxidative Phosphorylation Deficiency:

# Title Authors Year
1
Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. ( 15537906 )
2004

Variations for Combined Oxidative Phosphorylation Deficiency

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency:

6
(show top 50) (show all 648)
# Gene Variation Type Significance SNP ID Assembly Location
1 MRPS22 NM_020191.2(MRPS22): c.617C> T (p.Thr206Ile) single nucleotide variant Uncertain significance rs76148008 GRCh37 Chromosome 3, 139069133: 139069133
2 MRPS22 NM_020191.2(MRPS22): c.617C> T (p.Thr206Ile) single nucleotide variant Uncertain significance rs76148008 GRCh38 Chromosome 3, 139350291: 139350291
3 GFM1 NM_024996.5(GFM1): c.77A> G (p.Lys26Arg) single nucleotide variant Benign/Likely benign rs574200635 GRCh38 Chromosome 3, 158644711: 158644711
4 GFM1 NM_024996.5(GFM1): c.77A> G (p.Lys26Arg) single nucleotide variant Benign/Likely benign rs574200635 GRCh37 Chromosome 3, 158362500: 158362500
5 GFM1 NM_024996.5(GFM1): c.235-14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201304690 GRCh38 Chromosome 3, 158646151: 158646151
6 GFM1 NM_024996.5(GFM1): c.235-14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201304690 GRCh37 Chromosome 3, 158363940: 158363940
7 GFM1 NM_024996.5(GFM1): c.622G> A (p.Glu208Lys) single nucleotide variant Uncertain significance rs191462023 GRCh37 Chromosome 3, 158366879: 158366879
8 GFM1 NM_024996.5(GFM1): c.622G> A (p.Glu208Lys) single nucleotide variant Uncertain significance rs191462023 GRCh38 Chromosome 3, 158649090: 158649090
9 GFM1 NM_024996.5(GFM1): c.960A> C (p.Pro320=) single nucleotide variant Conflicting interpretations of pathogenicity rs145970222 GRCh38 Chromosome 3, 158653429: 158653429
10 GFM1 NM_024996.5(GFM1): c.960A> C (p.Pro320=) single nucleotide variant Conflicting interpretations of pathogenicity rs145970222 GRCh37 Chromosome 3, 158371218: 158371218
11 AARS2 NM_020745.3(AARS2): c.1621G> A (p.Glu541Lys) single nucleotide variant Uncertain significance rs142094090 GRCh37 Chromosome 6, 44272513: 44272513
12 AARS2 NM_020745.3(AARS2): c.1621G> A (p.Glu541Lys) single nucleotide variant Uncertain significance rs142094090 GRCh38 Chromosome 6, 44304776: 44304776
13 AARS2 NM_020745.3(AARS2): c.1192G> A (p.Ala398Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs202171981 GRCh38 Chromosome 6, 44306388: 44306388
14 AARS2 NM_020745.3(AARS2): c.1192G> A (p.Ala398Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs202171981 GRCh37 Chromosome 6, 44274125: 44274125
15 AARS2 NM_020745.3(AARS2): c.268G> C (p.Val90Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs863223860 GRCh37 Chromosome 6, 44279976: 44279976
16 AARS2 NM_020745.3(AARS2): c.268G> C (p.Val90Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs863223860 GRCh38 Chromosome 6, 44312239: 44312239
17 MRPS16 NM_016065.3(MRPS16): c.389C> G (p.Thr130Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs117510230 GRCh38 Chromosome 10, 73250877: 73250877
18 MRPS16 NM_016065.3(MRPS16): c.389C> G (p.Thr130Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs117510230 GRCh37 Chromosome 10, 75010635: 75010635
19 MRPS16 NM_016065.3(MRPS16): c.112C> A (p.His38Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116157972 GRCh37 Chromosome 10, 75011683: 75011683
20 MRPS16 NM_016065.3(MRPS16): c.112C> A (p.His38Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116157972 GRCh38 Chromosome 10, 73251925: 73251925
21 TUFM NM_003321.4(TUFM): c.1292A> G (p.Asn431Ser) single nucleotide variant Uncertain significance rs146326033 GRCh38 Chromosome 16, 28843051: 28843051
22 TUFM NM_003321.4(TUFM): c.1292A> G (p.Asn431Ser) single nucleotide variant Uncertain significance rs146326033 GRCh37 Chromosome 16, 28854372: 28854372
23 TUFM NM_003321.4(TUFM): c.622G> A (p.Glu208Lys) single nucleotide variant Uncertain significance rs143189885 GRCh38 Chromosome 16, 28844760: 28844760
24 TUFM NM_003321.4(TUFM): c.622G> A (p.Glu208Lys) single nucleotide variant Uncertain significance rs143189885 GRCh37 Chromosome 16, 28856081: 28856081
25 AIFM1 NM_004208.3(AIFM1): c.1047C> T (p.Ser349=) single nucleotide variant Conflicting interpretations of pathogenicity rs781350745 GRCh37 Chromosome X, 129271081: 129271081
26 AIFM1 NM_004208.3(AIFM1): c.1047C> T (p.Ser349=) single nucleotide variant Conflicting interpretations of pathogenicity rs781350745 GRCh38 Chromosome X, 130137106: 130137106
27 AIFM1 NM_004208.3(AIFM1): c.134C> G (p.Pro45Arg) single nucleotide variant Uncertain significance rs756361109 GRCh38 Chromosome X, 130156576: 130156576
28 AIFM1 NM_004208.3(AIFM1): c.134C> G (p.Pro45Arg) single nucleotide variant Uncertain significance rs756361109 GRCh37 Chromosome X, 129290550: 129290550
29 AARS2 NM_020745.3(AARS2): c.2701C> T (p.Arg901Trp) single nucleotide variant Uncertain significance rs145086947 GRCh37 Chromosome 6, 44268985: 44268985
30 AARS2 NM_020745.3(AARS2): c.2701C> T (p.Arg901Trp) single nucleotide variant Uncertain significance rs145086947 GRCh38 Chromosome 6, 44301248: 44301248
31 TSFM NM_001172696.1(TSFM): c.859C> A (p.Leu287Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs62000432 GRCh37 Chromosome 12, 58190184: 58190184
32 TSFM NM_001172696.1(TSFM): c.859C> A (p.Leu287Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs62000432 GRCh38 Chromosome 12, 57796401: 57796401
33 AIFM1 NM_004208.3(AIFM1): c.287A> G (p.Asn96Ser) single nucleotide variant Likely benign rs764149793 GRCh37 Chromosome X, 129283506: 129283506
34 AIFM1 NM_004208.3(AIFM1): c.287A> G (p.Asn96Ser) single nucleotide variant Likely benign rs764149793 GRCh38 Chromosome X, 130149531: 130149531
35 AIFM1 NM_145812.2(AIFM1): c.1376G> T (p.Arg459Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs202219398 GRCh37 Chromosome X, 129267348: 129267348
36 AIFM1 NM_145812.2(AIFM1): c.1376G> T (p.Arg459Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs202219398 GRCh38 Chromosome X, 130133373: 130133373
37 C12orf65 NM_152269.4(C12orf65): c.273C> T (p.Ile91=) single nucleotide variant Likely benign rs2280424 GRCh37 Chromosome 12, 123738494: 123738494
38 C12orf65 NM_152269.4(C12orf65): c.273C> T (p.Ile91=) single nucleotide variant Likely benign rs2280424 GRCh38 Chromosome 12, 123253947: 123253947
39 EARS2 NM_001083614.1(EARS2): c.*15G> C single nucleotide variant Uncertain significance rs200936622 GRCh38 Chromosome 16, 23524356: 23524356
40 EARS2 NM_001083614.1(EARS2): c.*15G> C single nucleotide variant Uncertain significance rs200936622 GRCh37 Chromosome 16, 23535677: 23535677
41 EARS2 NM_001083614.1(EARS2): c.*12T> G single nucleotide variant Benign rs1468138 GRCh38 Chromosome 16, 23524359: 23524359
42 EARS2 NM_001083614.1(EARS2): c.*12T> G single nucleotide variant Benign rs1468138 GRCh37 Chromosome 16, 23535680: 23535680
43 EARS2 NM_001083614.1(EARS2): c.280A> G (p.Met94Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200139797 GRCh37 Chromosome 16, 23563485: 23563485
44 EARS2 NM_001083614.1(EARS2): c.280A> G (p.Met94Val) single nucleotide variant Conflicting interpretations of pathogenicity rs200139797 GRCh38 Chromosome 16, 23552164: 23552164
45 MRPS22 NM_020191.2(MRPS22): c.987+15delT deletion Conflicting interpretations of pathogenicity rs886058023 GRCh38 Chromosome 3, 139355805: 139355805
46 MRPS22 NM_020191.2(MRPS22): c.987+15delT deletion Conflicting interpretations of pathogenicity rs886058023 GRCh37 Chromosome 3, 139074647: 139074647
47 GFM1 NM_024996.5(GFM1): c.373G> A (p.Val125Met) single nucleotide variant Uncertain significance rs200923387 GRCh38 Chromosome 3, 158646748: 158646748
48 GFM1 NM_024996.5(GFM1): c.373G> A (p.Val125Met) single nucleotide variant Uncertain significance rs200923387 GRCh37 Chromosome 3, 158364537: 158364537
49 GFM1 NM_024996.5(GFM1): c.643G> A (p.Val215Ile) single nucleotide variant Benign rs2303909 GRCh38 Chromosome 3, 158649111: 158649111
50 GFM1 NM_024996.5(GFM1): c.643G> A (p.Val215Ile) single nucleotide variant Benign rs2303909 GRCh37 Chromosome 3, 158366900: 158366900

Expression for Combined Oxidative Phosphorylation Deficiency

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency.

Pathways for Combined Oxidative Phosphorylation Deficiency

Pathways related to Combined Oxidative Phosphorylation Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.17 AARS2 EARS2 FARS2 VARS2

GO Terms for Combined Oxidative Phosphorylation Deficiency

Cellular components related to Combined Oxidative Phosphorylation Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.23 AARS2 AIFM1 EARS2 FARS2 GFM1 RMND1
2 mitochondrial matrix GO:0005759 9.13 EARS2 FARS2 GFM1

Biological processes related to Combined Oxidative Phosphorylation Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tRNA aminoacylation for protein translation GO:0006418 9.33 EARS2 FARS2 VARS2
2 mitochondrial translational elongation GO:0070125 9.32 GFM1 TUFM
3 translational elongation GO:0006414 9.26 GFM1 TUFM
4 translation GO:0006412 9.17 AARS2 EARS2 FARS2 GFM1 RMND1 TUFM
5 tRNA aminoacylation GO:0043039 9.13 AARS2 EARS2 FARS2

Molecular functions related to Combined Oxidative Phosphorylation Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.71 AARS2 EARS2 GFM1 TUFM
2 ATP binding GO:0005524 9.67 AARS2 EARS2 FARS2 VARS2
3 nucleotide binding GO:0000166 9.5 AARS2 EARS2 FARS2
4 tRNA binding GO:0000049 9.33 AARS2 EARS2 FARS2
5 translation elongation factor activity GO:0003746 9.26 GFM1 TUFM
6 ligase activity GO:0016874 9.26 AARS2 EARS2 FARS2 VARS2
7 aminoacyl-tRNA ligase activity GO:0004812 8.92 AARS2 EARS2 FARS2 VARS2

Sources for Combined Oxidative Phosphorylation Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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