Combined Oxidative Phosphorylation Deficiency 10 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

COXPD10 MCID: CMB025 MIFTS: 38	Combined Oxidative Phosphorylation Deficiency 10 (COXPD10) Categories: Cardiovascular diseases, Genetic diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 10

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 10:

Name: Combined Oxidative Phosphorylation Deficiency 10 ⁵⁷ ¹² ⁷² ²⁹ ¹³ ⁶ ¹⁵ ⁷⁰

Coxpd10 ⁵⁷ ¹² ⁵⁸ ⁷²

Mitochondrial Hypertrophic Cardiomyopathy with Lactic Acidosis Due to Mto1 Deficiency ¹² ⁵⁸

Cardiomyopathy, Infantile Hypertrophic Mitochondrial, and Lactic Acidosis ⁵⁷

Infantile Hypertrophic Mitochondrial Cardiomyopathy and Lactic Acidosis ¹²

Cardiomyopathy Infantile Hypertrophic Mitochondrial and Lactic Acidosis ⁷²

Combined Oxidative Phosphorylation Deficiency, Type 10 ³⁹

Combined Oxidative Phosphorylation Defect Type 10 ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mto1 deficiency
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or in first months of life but a few have presented as late as 8 years of age
sudden infantile death (in some patients)
some favorable outcome has been seen with treatment with dichloroacetate (dca) or ketogenic diet

HPO:

³¹

combined oxidative phosphorylation deficiency 10:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Cardiovascular 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:

Disease Ontology ¹² DOID:0111480

OMIM® ⁵⁷ 614702

OMIM Phenotypic Series ⁵⁷ PS609060

MeSH ⁴⁴ D028361

ICD10 via Orphanet ³³ E88.8

Orphanet ⁵⁸ ORPHA314637

MedGen ⁴¹ C3553529 CN130361

UMLS ⁷⁰ C3553529

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Summaries for Combined Oxidative Phosphorylation Deficiency 10

OMIM® : ⁵⁷ COXPD10 is an autosomal recessive disorder resulting in variable defects of mitochondrial oxidative respiration. Affected individuals present in infancy with hypertrophic cardiomyopathy and lactic acidosis. The severity is variable, but can be fatal in the most severe cases (summary by Ghezzi et al., 2012). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). (614702) (Updated 20-May-2021)

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 10, also known as coxpd10, is related to queensland tick typhus and combined oxidative phosphorylation deficiency. An important gene associated with Combined Oxidative Phosphorylation Deficiency 10 is MTO1 (Mitochondrial TRNA Translation Optimization 1), and among its related pathways/superpathways are Gene Expression and tRNA processing. Affiliated tissues include brain, and related phenotypes are spasticity and optic atrophy

Disease Ontology : ¹² A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has material basis in homozygous or compound heterozygous mutation in MTO1 on chromosome 6q13.

UniProtKB/Swiss-Prot : ⁷² Combined oxidative phosphorylation deficiency 10: An autosomal recessive disorder resulting in variable defects of mitochondrial oxidative respiration. Affected individuals present in infancy with hypertrophic cardiomyopathy and lactic acidosis. The severity is variable, but can be fatal in the most severe cases.

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Related Diseases for Combined Oxidative Phosphorylation Deficiency 10

Diseases related to Combined Oxidative Phosphorylation Deficiency 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)

#	Related Disease	Score	Top Affiliating Genes
1	queensland tick typhus	10.1	TRMU MTO1
2	combined oxidative phosphorylation deficiency	10.1	TRIT1 MTO1
3	deafness, autosomal recessive 26	9.9	MTO1 GTPBP3
4	drug-induced hearing loss	9.9	TRMU GTPBP3
5	deafness, aminoglycoside-induced	9.9	TRMU GTPBP3
6	mitochondrial myopathy	9.8	TRMU MTO1 GTPBP3
7	kearns-sayre syndrome	9.8	TRMU MTO1
8	mitochondrial encephalomyopathy	9.8	TRMU MTO1 GTPBP3
9	lactic acidosis	9.6	TRMU TRMT5 MTO1 GTPBP3
10	perrault syndrome	9.5	MRPS34 MRPL44
11	early myoclonic encephalopathy	9.5	TRMU TRIT1 MTO1 GTPBP3
12	neuropathy, hereditary motor and sensory, type via, with optic atrophy	9.5	TRMT5 MRPS34 MRPL44
13	leigh syndrome	9.4	TRMU MTO1 MRPS34 GTPBP3
14	sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay	9.3	TRMU TRMT5 TRIT1 MTO1 GTPBP3
15	cardiomyopathy, infantile hypertrophic	9.3	TRMU TRMT5 TRIT1 MTO1 GTPBP3
16	hypertrophic cardiomyopathy	9.2	TRMT5 MTO1 MRPL44 GTPBP3
17	mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	9.1	TRMU TRIT1 MTO1 MRPL44 GTPBP3

Graphical network of the top 20 diseases related to Combined Oxidative Phosphorylation Deficiency 10:

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Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 10

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 10:

³¹ (show all 18)

#	Description	HPO Frequency	HPO Source Accession
1	spasticity ³¹	occasional (7.5%)	HP:0001257
2	optic atrophy ³¹	occasional (7.5%)	HP:0000648
3	dystonia ³¹	occasional (7.5%)	HP:0001332
4	hyperalaninemia ³¹	occasional (7.5%)	HP:0003348
5	seizure ³¹	occasional (7.5%)	HP:0001250
6	failure to thrive ³¹		HP:0001508
7	global developmental delay ³¹		HP:0001263
8	cognitive impairment ³¹		HP:0100543
9	hypoglycemia ³¹		HP:0001943
10	hypertrophic cardiomyopathy ³¹		HP:0001639
11	arrhythmia ³¹		HP:0011675
12	increased serum lactate ³¹		HP:0002151
13	lactic acidosis ³¹		HP:0003128
14	feeding difficulties ³¹		HP:0011968
15	metabolic acidosis ³¹		HP:0001942
16	small for gestational age ³¹		HP:0001518
17	generalized hypotonia ³¹		HP:0001290
18	poor speech ³¹		HP:0002465

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Neurologic Central Nervous System:
global developmental delay
cognitive impairment
poor speech
seizures (in some patients)
delayed psychomotor development
more

Laboratory Abnormalities:
increased serum lactate
increased serum alanine (in many patients)
elevated urinary lactate

Head And Neck Eyes:
optic atrophy (in some patients)
lack of ocular fixation (1 patient)

Cardiovascular Heart:
arrhythmias
cardiomyopathy, hypertrophic (in many patients)

Abdomen Gastrointestinal:
poor feeding (in some patients)

Metabolic Features:
hypoglycemia
lactic acidosis
metabolic acidosis

Muscle Soft Tissue:
hypotonia
variable deficiencies of mitochondrial respiratory chain complexes i, iii, and iv

Growth Weight:
low birth weight

Growth Other:
failure to thrive (in some patients)

Clinical features from OMIM®:

614702 (Updated 20-May-2021)

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Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 10

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 10

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Genetic Tests for Combined Oxidative Phosphorylation Deficiency 10

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 10:

#	Genetic test	Affiliating Genes
1	Combined Oxidative Phosphorylation Deficiency 10 ²⁹	MTO1

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Anatomical Context for Combined Oxidative Phosphorylation Deficiency 10

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 10:

⁴⁰

Brain

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Publications for Combined Oxidative Phosphorylation Deficiency 10

Articles related to Combined Oxidative Phosphorylation Deficiency 10:

#	Title	Authors	PMID	Year
1	The genotypic and phenotypic spectrum of MTO1 deficiency. ⁵⁷ ⁶ ⁶¹	O'Byrne JJ...van Karnebeek CDM	29331171	2018
2	MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. ⁵⁷ ⁶	Baruffini E...Ghezzi D	23929671	2013
3	Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. ⁶ ⁵⁷	Ghezzi D...Zeviani M	22608499	2012
4	Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease. ⁶	Kamps R...Smeets HJM	29440775	2018
5	The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome. ⁶	Martin MA...Martinez-Azorin F	27256614	2017
6	Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant. ⁶	Charif M...Hamel CP	26061759	2015
7	Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. ⁶	Taylor RW...Chinnery PF	25058219	2014

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Genes for Combined Oxidative Phosphorylation Deficiency 10

Genes related to Combined Oxidative Phosphorylation Deficiency 10 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MTO1	Mitochondrial TRNA Translation Optimization 1	Protein Coding	1702.33	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	23929671 25058219 22608499
2	TRMU	TRNA Mitochondrial 2-Thiouridylase	Protein Coding	6.82	DISEASES inferred ¹⁵
3	TRMT5	TRNA Methyltransferase 5	Protein Coding	6.61	DISEASES inferred ¹⁵
4	GTPBP3	GTP Binding Protein 3, Mitochondrial	Protein Coding	6.27	DISEASES inferred ¹⁵
5	MRPS34	Mitochondrial Ribosomal Protein S34	Protein Coding	6.12	DISEASES inferred ¹⁵
6	MRPL44	Mitochondrial Ribosomal Protein L44	Protein Coding	6.06	DISEASES inferred ¹⁵
7	TRIT1	TRNA Isopentenyltransferase 1	Protein Coding	6.05	DISEASES inferred ¹⁵

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Variations for Combined Oxidative Phosphorylation Deficiency 10

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 10:

⁶ (show top 50) (show all 100)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	MTO1	NM_012123.4(MTO1):c.1232C>T (p.Thr411Ile)	SNV	Pathogenic	89038	rs398122419	GRCh37: 6:74190500-74190500 GRCh38: 6:73480777-73480777
2	MTO1	NM_012123.4(MTO1):c.97del (p.Arg33fs)	Deletion	Pathogenic	638475	rs1582666067	GRCh37: 6:74171671-74171671 GRCh38: 6:73461948-73461948
3	MTO1	NM_012123.4(MTO1):c.1324C>T (p.Arg442Ter)	SNV	Pathogenic	445467	rs200583827	GRCh37: 6:74191826-74191826 GRCh38: 6:73482103-73482103
4	MTO1	NM_012123.4(MTO1):c.1822del (p.Leu608fs)	Deletion	Pathogenic	574880	rs1561954433	GRCh37: 6:74207524-74207524 GRCh38: 6:73497801-73497801
5	MTO1	NM_012123.4(MTO1):c.1858dup (p.Arg620fs)	Duplication	Pathogenic	35495	rs397518449	GRCh37: 6:74207559-74207560 GRCh38: 6:73497836-73497837
6	MTO1	NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr)	SNV	Pathogenic	35496	rs143747297	GRCh37: 6:74191784-74191784 GRCh38: 6:73482061-73482061
7	MTO1	NM_012123.4(MTO1):c.1430G>A (p.Arg477His)	SNV	Pathogenic/Likely pathogenic	89037	rs201544686	GRCh37: 6:74191932-74191932 GRCh38: 6:73482209-73482209
8	MTO1	NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter)	SNV	Pathogenic/Likely pathogenic	840849		GRCh37: 6:74190469-74190469 GRCh38: 6:73480746-73480746
9	MTO1	NM_012123.4(MTO1):c.417+2T>C	SNV	Likely pathogenic	834420		GRCh37: 6:74176133-74176133 GRCh38: 6:73466410-73466410
10	MTO1	NM_012123.4(MTO1):c.1390C>T (p.Arg464Cys)	SNV	Likely pathogenic	937542		GRCh37: 6:74191892-74191892 GRCh38: 6:73482169-73482169
11	MTO1	NM_012123.4(MTO1):c.153_174del (p.Thr53fs)	Deletion	Likely pathogenic	931370		GRCh37: 6:74171728-74171749 GRCh38: 6:73462005-73462026
12	MTO1	NM_012123.4(MTO1):c.963A>C (p.Lys321Asn)	SNV	Likely pathogenic	488551	rs1554148965	GRCh37: 6:74189683-74189683 GRCh38: 6:73479960-73479960
13	MTO1	NM_012123.4(MTO1):c.1261-5T>G	SNV	Likely pathogenic	488552	rs1275100093	GRCh37: 6:74191758-74191758 GRCh38: 6:73482035-73482035
14	MTO1	NM_012123.4(MTO1):c.1429C>T (p.Arg477Cys)	SNV	Likely pathogenic	488553	rs1033653237	GRCh37: 6:74191931-74191931 GRCh38: 6:73482208-73482208
15	MTO1	NM_012123.4(MTO1):c.344del (p.Asn115fs)	Deletion	Likely pathogenic	996114		GRCh37: 6:74176056-74176056 GRCh38: 6:73466333-73466333
16	MTO1	NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp)	SNV	Conflicting interpretations of pathogenicity	408272	rs748152539	GRCh37: 6:74191952-74191952 GRCh38: 6:73482229-73482229
17	MTO1	NM_012123.4(MTO1):c.1325G>A (p.Arg442Gln)	SNV	Conflicting interpretations of pathogenicity	807632	rs765548847	GRCh37: 6:74191827-74191827 GRCh38: 6:73482104-73482104
18	MTO1	NM_012123.4(MTO1):c.938G>A (p.Arg313Gln)	SNV	Conflicting interpretations of pathogenicity	488550	rs371179032	GRCh37: 6:74189567-74189567 GRCh38: 6:73479844-73479844
19	MTO1	NM_012123.4(MTO1):c.1391G>T (p.Arg464Leu)	SNV	Uncertain significance	70512	rs141970072	GRCh37: 6:74191893-74191893 GRCh38: 6:73482170-73482170
20	MTO1	NM_012123.4(MTO1):c.1393A>G (p.Met465Val)	SNV	Uncertain significance	1027765		GRCh37: 6:74191895-74191895 GRCh38: 6:73482172-73482172
21	MTO1	NM_012123.4(MTO1):c.79A>T (p.Ser27Cys)	SNV	Uncertain significance	1027766		GRCh37: 6:74171656-74171656 GRCh38: 6:73461933-73461933
22	MTO1	NM_012123.4(MTO1):c.82G>A (p.Asp28Asn)	SNV	Uncertain significance	1031741		GRCh37: 6:74171659-74171659 GRCh38: 6:73461936-73461936
23	MTO1	NM_012123.4(MTO1):c.552A>G (p.Val184=)	SNV	Uncertain significance	1039509		GRCh37: 6:74183104-74183104 GRCh38: 6:73473381-73473381
24	MTO1	NM_012123.4(MTO1):c.386T>C (p.Ile129Thr)	SNV	Uncertain significance	1041724		GRCh37: 6:74176100-74176100 GRCh38: 6:73466377-73466377
25	MTO1	NM_012123.4(MTO1):c.868A>G (p.Arg290Gly)	SNV	Uncertain significance	851199		GRCh37: 6:74189497-74189497 GRCh38: 6:73479774-73479774
26	MTO1	NM_012123.4(MTO1):c.1292G>A (p.Arg431Gln)	SNV	Uncertain significance	852190		GRCh37: 6:74191794-74191794 GRCh38: 6:73482071-73482071
27	MTO1	NM_012123.4(MTO1):c.94C>T (p.Pro32Ser)	SNV	Uncertain significance	935389		GRCh37: 6:74171671-74171671 GRCh38: 6:73461948-73461948
28	MTO1	NM_012123.4(MTO1):c.1340T>C (p.Ile447Thr)	SNV	Uncertain significance	941436		GRCh37: 6:74191842-74191842 GRCh38: 6:73482119-73482119
29	MTO1	NM_012123.4(MTO1):c.2006C>T (p.Ser669Leu)	SNV	Uncertain significance	958454		GRCh37: 6:74210385-74210385 GRCh38: 6:73500662-73500662
30	MTO1	NM_012123.4(MTO1):c.1222A>G (p.Ile408Val)	SNV	Uncertain significance	240846	rs149407452	GRCh37: 6:74190490-74190490 GRCh38: 6:73480767-73480767
31	MTO1	NM_012123.4(MTO1):c.1391G>A (p.Arg464His)	SNV	Uncertain significance	835604		GRCh37: 6:74191893-74191893 GRCh38: 6:73482170-73482170
32	MTO1	NM_012123.4(MTO1):c.476T>C (p.Ile159Thr)	SNV	Uncertain significance	845336		GRCh37: 6:74176270-74176270 GRCh38: 6:73466547-73466547
33	MTO1	NM_012123.4(MTO1):c.535+5G>A	SNV	Uncertain significance	846664		GRCh37: 6:74176334-74176334 GRCh38: 6:73466611-73466611
34	MTO1	NM_012123.4(MTO1):c.1609A>G (p.Ile537Val)	SNV	Uncertain significance	850387		GRCh37: 6:74192315-74192315 GRCh38: 6:73482592-73482592
35	MTO1	NM_012123.4(MTO1):c.1013G>A (p.Gly338Glu)	SNV	Uncertain significance	855717		GRCh37: 6:74189733-74189733 GRCh38: 6:73480010-73480010
36	MTO1	NM_012123.4(MTO1):c.1100G>T (p.Gly367Val)	SNV	Uncertain significance	943984		GRCh37: 6:74189820-74189820 GRCh38: 6:73480097-73480097
37	MTO1	NM_012123.4(MTO1):c.1312T>C (p.Phe438Leu)	SNV	Uncertain significance	945404		GRCh37: 6:74191814-74191814 GRCh38: 6:73482091-73482091
38	MTO1	NM_012123.4(MTO1):c.1172C>G (p.Thr391Ser)	SNV	Uncertain significance	958933		GRCh37: 6:74190440-74190440 GRCh38: 6:73480717-73480717
39	MTO1	NM_012123.4(MTO1):c.260G>A (p.Gly87Glu)	SNV	Uncertain significance	970039		GRCh37: 6:74175974-74175974 GRCh38: 6:73466251-73466251
40	MTO1	NM_012123.4(MTO1):c.1687A>G (p.Lys563Glu)	SNV	Uncertain significance	1051937		GRCh37: 6:74202006-74202006 GRCh38: 6:73492283-73492283
41	MTO1	NM_012123.4(MTO1):c.736G>C (p.Glu246Gln)	SNV	Uncertain significance	1052249		GRCh37: 6:74183288-74183288 GRCh38: 6:73473565-73473565
42	MTO1	NM_012123.4(MTO1):c.108C>G (p.His36Gln)	SNV	Uncertain significance	1057655		GRCh37: 6:74171685-74171685 GRCh38: 6:73461962-73461962
43	MTO1	NM_012123.4(MTO1):c.806A>G (p.Asn269Ser)	SNV	Uncertain significance	1060685		GRCh37: 6:74183358-74183358 GRCh38: 6:73473635-73473635
44	MTO1	NM_012123.4(MTO1):c.1790A>C (p.Gln597Pro)	SNV	Uncertain significance	1061859		GRCh37: 6:74207492-74207492 GRCh38: 6:73497769-73497769
45	MTO1	NM_012123.4(MTO1):c.1055C>T (p.Thr352Met)	SNV	Uncertain significance	996115		GRCh37: 6:74189775-74189775 GRCh38: 6:73480052-73480052
46	MTO1	NM_012123.4(MTO1):c.1339A>G (p.Ile447Val)	SNV	Uncertain significance	577330	rs747475822	GRCh37: 6:74191841-74191841 GRCh38: 6:73482118-73482118
47	MTO1	NM_012123.4(MTO1):c.1725T>G (p.Cys575Trp)	SNV	Uncertain significance	837793		GRCh37: 6:74202044-74202044 GRCh38: 6:73492321-73492321
48	MTO1	NM_012123.4(MTO1):c.521G>A (p.Ser174Asn)	SNV	Uncertain significance	1003326		GRCh37: 6:74176315-74176315 GRCh38: 6:73466592-73466592
49	MTO1	NM_012123.4(MTO1):c.83A>C (p.Asp28Ala)	SNV	Uncertain significance	1009341		GRCh37: 6:74171660-74171660 GRCh38: 6:73461937-73461937
50	MTO1	NM_012123.4(MTO1):c.1996C>T (p.Arg666Ter)	SNV	Uncertain significance	547882	rs200217371	GRCh37: 6:74210375-74210375 GRCh38: 6:73500652-73500652

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 10:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	MTO1	p.Ala453Thr	VAR_068693	rs143747297

Sources

Expression for Combined Oxidative Phosphorylation Deficiency 10

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 10.

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Pathways for Combined Oxidative Phosphorylation Deficiency 10

Pathways related to Combined Oxidative Phosphorylation Deficiency 10 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Gene Expression ⁶⁵ Show member pathways Generic Transcription Pathway ⁶⁵	12.79	TRMU TRMT5 TRIT1 MTO1 GTPBP3
2	tRNA processing ⁶⁵ Show member pathways 7-(3-amino-3-carboxypropyl)-wyosine biosynthesis ¹ Synthesis of wybutosine at G37 of tRNA(Phe) ⁶⁵ tRNA modification in the mitochondrion ⁶⁵ tRNA modification in the nucleus and cytosol ⁶⁵ tRNA processing in the mitochondrion ⁶⁵ tRNA processing in the nucleus ⁶⁵ wybutosine biosynthesis ¹	11.39	TRMU TRMT5 TRIT1 MTO1 GTPBP3

Sources

GO Terms for Combined Oxidative Phosphorylation Deficiency 10

Cellular components related to Combined Oxidative Phosphorylation Deficiency 10 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrion	GO:0005739	9.17	TRMU TRMT5 TRIT1 MTO1 MRPS34 MRPL44

Biological processes related to Combined Oxidative Phosphorylation Deficiency 10 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial translational termination	GO:0070126	9.37	MRPS34 MRPL44
2	mitochondrial translational elongation	GO:0070125	9.32	MRPS34 MRPL44
3	tRNA modification	GO:0006400	9.26	TRIT1 GTPBP3
4	tRNA wobble uridine modification	GO:0002098	9.16	MTO1 GTPBP3
5	tRNA methylation	GO:0030488	9.13	TRMT5 MTO1 GTPBP3
6	tRNA processing	GO:0008033	9.02	TRMU TRMT5 TRIT1 MTO1 GTPBP3

Sources

Sources for Combined Oxidative Phosphorylation Deficiency 10

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

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Combined Oxidative Phosphorylation Deficiency 10 (COXPD10)

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 10

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 10:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Combined Oxidative Phosphorylation Deficiency 10

Related Diseases for Combined Oxidative Phosphorylation Deficiency 10

Diseases related to Combined Oxidative Phosphorylation Deficiency 10 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Combined Oxidative Phosphorylation Deficiency 10:

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 10

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 10:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 10

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 10

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 10:

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 10

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 10:

Publications for Combined Oxidative Phosphorylation Deficiency 10

Articles related to Combined Oxidative Phosphorylation Deficiency 10:

Genes for Combined Oxidative Phosphorylation Deficiency 10

Genes related to Combined Oxidative Phosphorylation Deficiency 10 (1 elite genes):

Variations for Combined Oxidative Phosphorylation Deficiency 10

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 10:

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 10:

Expression for Combined Oxidative Phosphorylation Deficiency 10

Pathways for Combined Oxidative Phosphorylation Deficiency 10

Pathways related to Combined Oxidative Phosphorylation Deficiency 10 according to GeneCards Suite gene sharing:

GO Terms for Combined Oxidative Phosphorylation Deficiency 10

Cellular components related to Combined Oxidative Phosphorylation Deficiency 10 according to GeneCards Suite gene sharing:

Biological processes related to Combined Oxidative Phosphorylation Deficiency 10 according to GeneCards Suite gene sharing:

Sources for Combined Oxidative Phosphorylation Deficiency 10