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

COXPD10 MCID: CMB025 MIFTS: 22	Combined Oxidative Phosphorylation Deficiency 10 (COXPD10) Categories: Cardiovascular diseases, Genetic diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Publications 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 ⁵⁸ ⁷⁶ ³⁰ ¹³ ⁶ ⁷⁴

Coxpd10 ⁵⁸ ⁶⁰ ⁷⁶

Mitochondrial Hypertrophic Cardiomyopathy with Lactic Acidosis Due to Mto1 Deficiency ⁶⁰

Cardiomyopathy, Infantile Hypertrophic Mitochondrial, and Lactic Acidosis ⁵⁸

Cardiomyopathy Infantile Hypertrophic Mitochondrial and Lactic Acidosis ⁷⁶

Combined Oxidative Phosphorylation Deficiency, Type 10 ⁴¹

Combined Oxidative Phosphorylation Defect Type 10 ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

OMIM:

⁵⁸

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 may occur
some favorable outcome has been seen with treatment with dichloroacetate (dca) or ketogenic diet

HPO:

³³

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

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the circulatory system

Other forms of heart disease

Cardiomyopathy

Other hypertrophic cardiomyopathy

Orphanet: ⁶⁰

Inborn errors of metabolism

External Ids:

OMIM ⁵⁸ 614702

MeSH ⁴⁵ D028361

ICD10 via Orphanet ³⁵ I42.2

Orphanet ⁶⁰ ORPHA314637

MedGen ⁴³ C3553529 CN130361

UMLS ⁷⁴ C3553529

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Summaries for Combined Oxidative Phosphorylation Deficiency 10

OMIM : ⁵⁸ 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)

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 10, is also known as coxpd10. An important gene associated with Combined Oxidative Phosphorylation Deficiency 10 is MTO1 (Mitochondrial TRNA Translation Optimization 1). Affiliated tissues include brain, and related phenotypes are seizures and spasticity

UniProtKB/Swiss-Prot : ⁷⁶ 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

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Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 10

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 10:

³³ (show all 18)

#	Description	HPO Frequency	HPO Source Accession
1	seizures ³³	occasional (7.5%)	HP:0001250
2	spasticity ³³	occasional (7.5%)	HP:0001257
3	optic atrophy ³³	occasional (7.5%)	HP:0000648
4	dystonia ³³	occasional (7.5%)	HP:0001332
5	hyperalaninemia ³³	occasional (7.5%)	HP:0003348
6	failure to thrive ³³		HP:0001508
7	global developmental delay ³³		HP:0001263
8	cognitive impairment ³³		HP:0100543
9	hypertrophic cardiomyopathy ³³		HP:0001639
10	arrhythmia ³³		HP:0011675
11	hypoglycemia ³³		HP:0001943
12	feeding difficulties ³³		HP:0011968
13	increased serum lactate ³³		HP:0002151
14	lactic acidosis ³³		HP:0003128
15	metabolic acidosis ³³		HP:0001942
16	generalized hypotonia ³³		HP:0001290
17	small for gestational age ³³		HP:0001518
18	poor speech ³³		HP:0002465

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

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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 ³⁰	MTO1

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Anatomical Context for Combined Oxidative Phosphorylation Deficiency 10

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

⁴²

Brain

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Publications for Combined Oxidative Phosphorylation Deficiency 10

Articles related to Combined Oxidative Phosphorylation Deficiency 10:

#	Title	Authors	Year
1	MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast. ( 23929671 )	Baruffini E...Ghezzi D	2013
2	Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. ( 22608499 )	Ghezzi D...Zeviani M	2012

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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	PubmedIds
1	MTO1	Mitochondrial TRNA Translation Optimization 1	Protein Coding	1680.03	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	22608499 23929671

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Variations for Combined Oxidative Phosphorylation Deficiency 10

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

⁷⁶

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

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 10:

⁶ (show top 50) (show all 91)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MTO1	NM_133645.2(MTO1): c.1933dup (p.Arg645Lysfs)	duplication	Pathogenic	rs397518449	GRCh37	Chromosome 6, 74207560: 74207560
2	MTO1	NM_133645.2(MTO1): c.1933dup (p.Arg645Lysfs)	duplication	Pathogenic	rs397518449	GRCh38	Chromosome 6, 73497837: 73497837
3	MTO1	NM_012123.3(MTO1): c.1282G> A (p.Ala428Thr)	single nucleotide variant	Pathogenic/Likely pathogenic	rs143747297	GRCh37	Chromosome 6, 74191784: 74191784
4	MTO1	NM_012123.3(MTO1): c.1282G> A (p.Ala428Thr)	single nucleotide variant	Pathogenic/Likely pathogenic	rs143747297	GRCh38	Chromosome 6, 73482061: 73482061
5	MTO1	NM_001123226.1(MTO1): c.919G> A (p.Glu307Lys)	single nucleotide variant	Uncertain significance	rs138469662	GRCh37	Chromosome 6, 74189548: 74189548
6	MTO1	NM_001123226.1(MTO1): c.919G> A (p.Glu307Lys)	single nucleotide variant	Uncertain significance	rs138469662	GRCh38	Chromosome 6, 73479825: 73479825
7	MTO1	NM_001123226.1(MTO1): c.919G> A (p.Glu307Lys)	single nucleotide variant	Uncertain significance	rs138469662	NCBI36	Chromosome 6, 74246269: 74246269
8	MTO1	NM_133645.2(MTO1): c.1505G> A (p.Arg502His)	single nucleotide variant	Pathogenic/Likely pathogenic	rs201544686	GRCh37	Chromosome 6, 74191932: 74191932
9	MTO1	NM_133645.2(MTO1): c.1505G> A (p.Arg502His)	single nucleotide variant	Pathogenic/Likely pathogenic	rs201544686	GRCh38	Chromosome 6, 73482209: 73482209
10	MTO1	NM_133645.2(MTO1): c.1307C> T (p.Thr436Ile)	single nucleotide variant	Pathogenic	rs398122419	GRCh37	Chromosome 6, 74190500: 74190500
11	MTO1	NM_133645.2(MTO1): c.1307C> T (p.Thr436Ile)	single nucleotide variant	Pathogenic	rs398122419	GRCh38	Chromosome 6, 73480777: 73480777
12	MTO1	NM_012123.3(MTO1): c.1368T> C (p.Thr456=)	single nucleotide variant	Benign	rs115654622	GRCh37	Chromosome 6, 74191870: 74191870
13	MTO1	NM_012123.3(MTO1): c.1368T> C (p.Thr456=)	single nucleotide variant	Benign	rs115654622	GRCh38	Chromosome 6, 73482147: 73482147
14	MTO1	NM_012123.3(MTO1): c.1785A> G (p.Gln595=)	single nucleotide variant	Benign	rs147990749	GRCh37	Chromosome 6, 74207487: 74207487
15	MTO1	NM_012123.3(MTO1): c.1785A> G (p.Gln595=)	single nucleotide variant	Benign	rs147990749	GRCh38	Chromosome 6, 73497764: 73497764
16	MTO1	NM_012123.3(MTO1): c.1894C> T (p.Leu632=)	single nucleotide variant	Benign	rs117757245	GRCh37	Chromosome 6, 74207596: 74207596
17	MTO1	NM_012123.3(MTO1): c.1894C> T (p.Leu632=)	single nucleotide variant	Benign	rs117757245	GRCh38	Chromosome 6, 73497873: 73497873
18	MTO1	NM_012123.3(MTO1): c.1918-7T> G	single nucleotide variant	Benign	rs73452515	GRCh37	Chromosome 6, 74210290: 74210290
19	MTO1	NM_012123.3(MTO1): c.1918-7T> G	single nucleotide variant	Benign	rs73452515	GRCh38	Chromosome 6, 73500567: 73500567
20	MTO1	NM_012123.3(MTO1): c.620C> T (p.Thr207Met)	single nucleotide variant	Likely benign	rs139334277	GRCh37	Chromosome 6, 74183172: 74183172
21	MTO1	NM_012123.3(MTO1): c.620C> T (p.Thr207Met)	single nucleotide variant	Likely benign	rs139334277	GRCh38	Chromosome 6, 73473449: 73473449
22	MTO1	NM_012123.3(MTO1): c.922A> G (p.Thr308Ala)	single nucleotide variant	Likely benign	rs145043138	GRCh37	Chromosome 6, 74189551: 74189551
23	MTO1	NM_012123.3(MTO1): c.922A> G (p.Thr308Ala)	single nucleotide variant	Likely benign	rs145043138	GRCh38	Chromosome 6, 73479828: 73479828
24	MTO1	NM_012123.3(MTO1): c.1051A> G (p.Met351Val)	single nucleotide variant	Benign/Likely benign	rs144075994	GRCh37	Chromosome 6, 74189771: 74189771
25	MTO1	NM_012123.3(MTO1): c.1051A> G (p.Met351Val)	single nucleotide variant	Benign/Likely benign	rs144075994	GRCh38	Chromosome 6, 73480048: 73480048
26	MTO1	NM_012123.3(MTO1): c.1222A> G (p.Ile408Val)	single nucleotide variant	Uncertain significance	rs149407452	GRCh37	Chromosome 6, 74190490: 74190490
27	MTO1	NM_012123.3(MTO1): c.1222A> G (p.Ile408Val)	single nucleotide variant	Uncertain significance	rs149407452	GRCh38	Chromosome 6, 73480767: 73480767
28	MTO1	NM_012123.3(MTO1): c.1549G> A (p.Val517Met)	single nucleotide variant	Likely benign	rs139608228	GRCh37	Chromosome 6, 74192255: 74192255
29	MTO1	NM_012123.3(MTO1): c.1549G> A (p.Val517Met)	single nucleotide variant	Likely benign	rs139608228	GRCh38	Chromosome 6, 73482532: 73482532
30	MTO1	NM_012123.3(MTO1): c.1717A> T (p.Thr573Ser)	single nucleotide variant	Uncertain significance	rs774500449	GRCh38	Chromosome 6, 73492313: 73492313
31	MTO1	NM_012123.3(MTO1): c.1717A> T (p.Thr573Ser)	single nucleotide variant	Uncertain significance	rs774500449	GRCh37	Chromosome 6, 74202036: 74202036
32	MTO1	NM_012123.3(MTO1): c.1086C> G (p.Ile362Met)	single nucleotide variant	Benign/Likely benign	rs147329295	GRCh38	Chromosome 6, 73480083: 73480083
33	MTO1	NM_012123.3(MTO1): c.1086C> G (p.Ile362Met)	single nucleotide variant	Benign/Likely benign	rs147329295	GRCh37	Chromosome 6, 74189806: 74189806
34	MTO1	NM_012123.3(MTO1): c.1194G> T (p.Leu398Phe)	single nucleotide variant	Uncertain significance	rs772209676	GRCh38	Chromosome 6, 73480739: 73480739
35	MTO1	NM_012123.3(MTO1): c.1194G> T (p.Leu398Phe)	single nucleotide variant	Uncertain significance	rs772209676	GRCh37	Chromosome 6, 74190462: 74190462
36	MTO1	NM_012123.3(MTO1): c.547A> G (p.Thr183Ala)	single nucleotide variant	Uncertain significance	rs779108851	GRCh37	Chromosome 6, 74183099: 74183099
37	MTO1	NM_012123.3(MTO1): c.547A> G (p.Thr183Ala)	single nucleotide variant	Uncertain significance	rs779108851	GRCh38	Chromosome 6, 73473376: 73473376
38	MTO1	NM_012123.3(MTO1): c.1291C> T (p.Arg431Trp)	single nucleotide variant	Uncertain significance	rs748328322	GRCh37	Chromosome 6, 74191793: 74191793
39	MTO1	NM_012123.3(MTO1): c.1291C> T (p.Arg431Trp)	single nucleotide variant	Uncertain significance	rs748328322	GRCh38	Chromosome 6, 73482070: 73482070
40	MTO1	NM_012123.3(MTO1): c.70C> T (p.Arg24Trp)	single nucleotide variant	Uncertain significance	rs368723563	GRCh38	Chromosome 6, 73461924: 73461924
41	MTO1	NM_012123.3(MTO1): c.70C> T (p.Arg24Trp)	single nucleotide variant	Uncertain significance	rs368723563	GRCh37	Chromosome 6, 74171647: 74171647
42	MTO1	NM_012123.3(MTO1): c.1062A> C (p.Pro354=)	single nucleotide variant	Likely benign	rs1060504378	GRCh37	Chromosome 6, 74189782: 74189782
43	MTO1	NM_012123.3(MTO1): c.1062A> C (p.Pro354=)	single nucleotide variant	Likely benign	rs1060504378	GRCh38	Chromosome 6, 73480059: 73480059
44	MTO1	NM_012123.3(MTO1): c.1450C> T (p.Arg484Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs748152539	GRCh37	Chromosome 6, 74191952: 74191952
45	MTO1	NM_012123.3(MTO1): c.1450C> T (p.Arg484Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs748152539	GRCh38	Chromosome 6, 73482229: 73482229
46	MTO1	NM_012123.3(MTO1): c.61C> T (p.Pro21Ser)	single nucleotide variant	Uncertain significance	rs753873871	GRCh37	Chromosome 6, 74171638: 74171638
47	MTO1	NM_012123.3(MTO1): c.61C> T (p.Pro21Ser)	single nucleotide variant	Uncertain significance	rs753873871	GRCh38	Chromosome 6, 73461915: 73461915
48	MTO1	NM_012123.3(MTO1): c.252C> T (p.Ile84=)	single nucleotide variant	Likely benign	rs374384468	GRCh37	Chromosome 6, 74175966: 74175966
49	MTO1	NM_012123.3(MTO1): c.252C> T (p.Ile84=)	single nucleotide variant	Likely benign	rs374384468	GRCh38	Chromosome 6, 73466243: 73466243
50	MTO1	NM_012123.3(MTO1): c.1956C> T (p.Ala652=)	single nucleotide variant	Likely benign	rs777048417	GRCh37	Chromosome 6, 74210335: 74210335

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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

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GO Terms for Combined Oxidative Phosphorylation Deficiency 10

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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

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

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

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 10:

Expression for Combined Oxidative Phosphorylation Deficiency 10

Pathways for Combined Oxidative Phosphorylation Deficiency 10

GO Terms for Combined Oxidative Phosphorylation Deficiency 10

Sources for Combined Oxidative Phosphorylation Deficiency 10