MCID: CMB008
MIFTS: 25

Combined Oxidative Phosphorylation Deficiency

Categories: Cardiovascular diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency:

Name: Combined Oxidative Phosphorylation Deficiency 12 54 38 30 6 15 41

Classifications:



External Ids:

Disease Ontology 12 DOID:0060286
KEGG 38 H00891

Summaries for Combined Oxidative Phosphorylation Deficiency

NIH Rare Diseases : 54 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 4. 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, brain and heart.

Disease Ontology : 12 A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction, and has material basis in autosomal recessive inheritance.

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 42)
# Related Disease Score Top Affiliating Genes
1 combined oxidative phosphorylation deficiency 1 12.9
2 combined oxidative phosphorylation deficiency 4 12.9
3 combined oxidative phosphorylation deficiency 12 12.8
4 combined oxidative phosphorylation deficiency 8 12.8
5 combined oxidative phosphorylation deficiency 10 12.8
6 combined oxidative phosphorylation deficiency 11 12.8
7 combined oxidative phosphorylation deficiency 15 12.8
8 combined oxidative phosphorylation deficiency 16 12.8
9 combined oxidative phosphorylation deficiency 14 12.8
10 combined oxidative phosphorylation deficiency 18 12.8
11 combined oxidative phosphorylation deficiency 2 12.8
12 combined oxidative phosphorylation deficiency 3 12.8
13 combined oxidative phosphorylation deficiency 5 12.8
14 combined oxidative phosphorylation deficiency 7 12.8
15 combined oxidative phosphorylation deficiency 9 12.8
16 combined oxidative phosphorylation deficiency 13 12.8
17 combined oxidative phosphorylation deficiency 23 12.8
18 combined oxidative phosphorylation deficiency 24 12.8
19 combined oxidative phosphorylation deficiency 33 12.8
20 combined oxidative phosphorylation deficiency 34 12.8
21 combined oxidative phosphorylation deficiency 6 12.8
22 combined oxidative phosphorylation deficiency 17 12.8
23 combined oxidative phosphorylation deficiency 19 12.8
24 combined oxidative phosphorylation deficiency 21 12.8
25 combined oxidative phosphorylation deficiency 35 12.8
26 combined oxidative phosphorylation deficiency 20 12.7
27 combined oxidative phosphorylation deficiency 22 12.7
28 combined oxidative phosphorylation deficiency 30 12.7
29 combined oxidative phosphorylation deficiency 28 12.7
30 combined oxidative phosphorylation deficiency 31 12.7
31 combined oxidative phosphorylation deficiency 32 12.7
32 combined oxidative phosphorylation deficiency 37 12.7
33 combined oxidative phosphorylation deficiency 25 12.7
34 combined oxidative phosphorylation deficiency 26 12.7
35 combined oxidative phosphorylation deficiency 27 12.7
36 combined oxidative phosphorylation deficiency 36 12.7
37 combined oxidative phosphorylation deficiency 29 12.7
38 combined oxidative phosphorylation deficiency 39 12.7
39 combined oxidative phosphorylation deficiency 38 12.5
40 fars2 deficiency 11.3
41 atrial standstill 1 9.9
42 mitochondrial encephalomyopathy 9.8 AIFM1 FARS2

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 30

Anatomical Context for Combined Oxidative Phosphorylation Deficiency

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency:

42
Liver, Brain, Heart

Publications for Combined Oxidative Phosphorylation Deficiency

Articles related to Combined Oxidative Phosphorylation Deficiency:

# Title Authors Year
1
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4. ( 30903008 )
2019
2
The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation. ( 29302266 )
2017
3
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 718)
# Gene Variation Type Significance SNP ID Assembly Location
1 AARS2 NM_020745.3(AARS2): c.2188G> A (p.Val730Met) single nucleotide variant Benign/Likely benign rs35623954 GRCh37 Chromosome 6, 44270870: 44270870
2 AARS2 NM_020745.3(AARS2): c.2188G> A (p.Val730Met) single nucleotide variant Benign/Likely benign rs35623954 GRCh38 Chromosome 6, 44303133: 44303133
3 AARS2 NM_020745.3(AARS2): c.2426T> A (p.Leu809Gln) single nucleotide variant Benign/Likely benign rs35967387 GRCh37 Chromosome 6, 44270189: 44270189
4 AARS2 NM_020745.3(AARS2): c.2426T> A (p.Leu809Gln) single nucleotide variant Benign/Likely benign rs35967387 GRCh38 Chromosome 6, 44302452: 44302452
5 AARS2 NM_020745.3(AARS2): c.2440G> A (p.Val814Met) single nucleotide variant Benign/Likely benign rs111325758 GRCh37 Chromosome 6, 44270175: 44270175
6 AARS2 NM_020745.3(AARS2): c.2440G> A (p.Val814Met) single nucleotide variant Benign/Likely benign rs111325758 GRCh38 Chromosome 6, 44302438: 44302438
7 AARS2 NM_020745.3(AARS2): c.2548A> G (p.Met850Val) single nucleotide variant Benign/Likely benign rs35783144 GRCh37 Chromosome 6, 44269847: 44269847
8 AARS2 NM_020745.3(AARS2): c.2548A> G (p.Met850Val) single nucleotide variant Benign/Likely benign rs35783144 GRCh38 Chromosome 6, 44302110: 44302110
9 AARS2 NM_020745.3(AARS2): c.420G> A (p.Gly140=) single nucleotide variant Benign/Likely benign rs75506489 GRCh37 Chromosome 6, 44279824: 44279824
10 AARS2 NM_020745.3(AARS2): c.420G> A (p.Gly140=) single nucleotide variant Benign/Likely benign rs75506489 GRCh38 Chromosome 6, 44312087: 44312087
11 AARS2 NM_020745.3(AARS2): c.861C> A (p.Asp287Glu) single nucleotide variant Benign/Likely benign rs115815965 GRCh37 Chromosome 6, 44278069: 44278069
12 AARS2 NM_020745.3(AARS2): c.861C> A (p.Asp287Glu) single nucleotide variant Benign/Likely benign rs115815965 GRCh38 Chromosome 6, 44310332: 44310332
13 AARS2 NM_020745.3(AARS2): c.1196A> G (p.Asn399Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs113433939 GRCh37 Chromosome 6, 44274121: 44274121
14 AARS2 NM_020745.3(AARS2): c.1196A> G (p.Asn399Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs113433939 GRCh38 Chromosome 6, 44306384: 44306384
15 AARS2 NM_020745.3(AARS2): c.1752G> A (p.Glu584=) single nucleotide variant Conflicting interpretations of pathogenicity rs78525157 GRCh37 Chromosome 6, 44272382: 44272382
16 AARS2 NM_020745.3(AARS2): c.1752G> A (p.Glu584=) single nucleotide variant Conflicting interpretations of pathogenicity rs78525157 GRCh38 Chromosome 6, 44304645: 44304645
17 AARS2 NM_020745.3(AARS2): c.1753-13T> C single nucleotide variant Benign/Likely benign rs80339975 GRCh37 Chromosome 6, 44272283: 44272283
18 AARS2 NM_020745.3(AARS2): c.1753-13T> C single nucleotide variant Benign/Likely benign rs80339975 GRCh38 Chromosome 6, 44304546: 44304546
19 AIFM1 NM_004208.3(AIFM1): c.918C> T (p.Ile306=) single nucleotide variant Benign rs12014115 GRCh37 Chromosome X, 129272617: 129272617
20 AIFM1 NM_004208.3(AIFM1): c.918C> T (p.Ile306=) single nucleotide variant Benign rs12014115 GRCh38 Chromosome X, 130138642: 130138642
21 AIFM1 NM_004208.3(AIFM1): c.996A> G (p.Gln332=) single nucleotide variant Benign rs12007545 GRCh37 Chromosome X, 129271132: 129271132
22 AIFM1 NM_004208.3(AIFM1): c.996A> G (p.Gln332=) single nucleotide variant Benign rs12007545 GRCh38 Chromosome X, 130137157: 130137157
23 AIFM1 NM_004208.3(AIFM1): c.1329C> T (p.Tyr443=) single nucleotide variant Benign/Likely benign rs143792929 GRCh37 Chromosome X, 129267407: 129267407
24 AIFM1 NM_004208.3(AIFM1): c.1329C> T (p.Tyr443=) single nucleotide variant Benign/Likely benign rs143792929 GRCh38 Chromosome X, 130133432: 130133432
25 AIFM1 NM_004208.3(AIFM1): c.1416T> C (p.Ala472=) single nucleotide variant Benign rs141324245 GRCh37 Chromosome X, 129267320: 129267320
26 AIFM1 NM_004208.3(AIFM1): c.1416T> C (p.Ala472=) single nucleotide variant Benign rs141324245 GRCh38 Chromosome X, 130133345: 130133345
27 AIFM1 NM_004208.3(AIFM1): c.1833T> C (p.His611=) single nucleotide variant Benign rs73556209 GRCh37 Chromosome X, 129263541: 129263541
28 AIFM1 NM_004208.3(AIFM1): c.1833T> C (p.His611=) single nucleotide variant Benign rs73556209 GRCh38 Chromosome X, 130129566: 130129566
29 AIFM1 NM_004208.3(AIFM1): c.103C> T (p.Pro35Ser) single nucleotide variant Benign/Likely benign rs61730896 GRCh37 Chromosome X, 129299528: 129299528
30 AIFM1 NM_004208.3(AIFM1): c.103C> T (p.Pro35Ser) single nucleotide variant Benign/Likely benign rs61730896 GRCh38 Chromosome X, 130165554: 130165554
31 EARS2 NM_001083614.1(EARS2): c.606C> G (p.Val202=) single nucleotide variant Benign rs2073951 GRCh38 Chromosome 16, 23535240: 23535240
32 EARS2 NM_001083614.1(EARS2): c.606C> G (p.Val202=) single nucleotide variant Benign rs2073951 GRCh37 Chromosome 16, 23546561: 23546561
33 EARS2 NM_001083614.1(EARS2): c.1068-5C> T single nucleotide variant Benign rs2072061 GRCh38 Chromosome 16, 23529902: 23529902
34 EARS2 NM_001083614.1(EARS2): c.1068-5C> T single nucleotide variant Benign rs2072061 GRCh37 Chromosome 16, 23541223: 23541223
35 EARS2 NM_001083614.1(EARS2): c.1369A> G (p.Ser457Gly) single nucleotide variant Benign rs6497671 GRCh38 Chromosome 16, 23525363: 23525363
36 EARS2 NM_001083614.1(EARS2): c.1369A> G (p.Ser457Gly) single nucleotide variant Benign rs6497671 GRCh37 Chromosome 16, 23536684: 23536684
37 EARS2 NM_001083614.1(EARS2): c.264G> A (p.Ala88=) single nucleotide variant Benign rs7187920 GRCh38 Chromosome 16, 23552180: 23552180
38 EARS2 NM_001083614.1(EARS2): c.264G> A (p.Ala88=) single nucleotide variant Benign rs7187920 GRCh37 Chromosome 16, 23563501: 23563501
39 GFM1 NM_024996.5(GFM1): c.1083+6T> G single nucleotide variant Conflicting interpretations of pathogenicity rs142919829 GRCh37 Chromosome 3, 158372426: 158372426
40 GFM1 NM_024996.5(GFM1): c.1083+6T> G single nucleotide variant Conflicting interpretations of pathogenicity rs142919829 GRCh38 Chromosome 3, 158654637: 158654637
41 GFM1 NM_024996.5(GFM1): c.127A> G (p.Asn43Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs35942089 GRCh37 Chromosome 3, 158363463: 158363463
42 GFM1 NM_024996.5(GFM1): c.127A> G (p.Asn43Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs35942089 GRCh38 Chromosome 3, 158645674: 158645674
43 GFM1 NM_024996.5(GFM1): c.1601+9G> C single nucleotide variant Conflicting interpretations of pathogenicity rs77186707 GRCh37 Chromosome 3, 158384184: 158384184
44 GFM1 NM_024996.5(GFM1): c.1601+9G> C single nucleotide variant Conflicting interpretations of pathogenicity rs77186707 GRCh38 Chromosome 3, 158666395: 158666395
45 GFM1 NM_024996.5(GFM1): c.476A> G (p.Asn159Ser) single nucleotide variant Benign/Likely benign rs34297061 GRCh37 Chromosome 3, 158364640: 158364640
46 GFM1 NM_024996.5(GFM1): c.476A> G (p.Asn159Ser) single nucleotide variant Benign/Likely benign rs34297061 GRCh38 Chromosome 3, 158646851: 158646851
47 GFM1 NM_024996.5(GFM1): c.568A> C (p.Met190Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs75450876 GRCh37 Chromosome 3, 158364732: 158364732
48 GFM1 NM_024996.5(GFM1): c.568A> C (p.Met190Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs75450876 GRCh38 Chromosome 3, 158646943: 158646943
49 GFM1 NM_024996.5(GFM1): c.1990G> A (p.Val664Ile) single nucleotide variant Benign/Likely benign rs62288347 GRCh37 Chromosome 3, 158408032: 158408032
50 GFM1 NM_024996.5(GFM1): c.1990G> A (p.Val664Ile) single nucleotide variant Benign/Likely benign rs62288347 GRCh38 Chromosome 3, 158690243: 158690243

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 9.28 AARS2 AIFM1 EARS2 FARS2 GFM1 PNPT1
2 mitochondrial intermembrane space GO:0005758 9.16 AIFM1 PNPT1
3 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 9.72 AARS2 EARS2 GFM1 PNPT1 TUFM
2 nucleotide binding GO:0000166 9.54 AARS2 EARS2 FARS2
3 tRNA binding GO:0000049 9.33 AARS2 EARS2 FARS2
4 translation elongation factor activity GO:0003746 9.26 GFM1 TUFM
5 ligase activity GO:0016874 9.26 AARS2 EARS2 FARS2 VARS2
6 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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