COXPD10
MCID: CMB025
MIFTS: 21

Combined Oxidative Phosphorylation Deficiency 10 (COXPD10)

Categories: Cardiovascular diseases, Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 10

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 10:

Name: Combined Oxidative Phosphorylation Deficiency 10 57 75 29 13 6 73
Coxpd10 57 59 75
Mitochondrial Hypertrophic Cardiomyopathy with Lactic Acidosis Due to Mto1 Deficiency 59
Cardiomyopathy, Infantile Hypertrophic Mitochondrial, and Lactic Acidosis 57
Cardiomyopathy Infantile Hypertrophic Mitochondrial and Lactic Acidosis 75
Combined Oxidative Phosphorylation Deficiency, Type 10 40
Combined Oxidative Phosphorylation Defect Type 10 59

Characteristics:

Orphanet epidemiological data:

59
mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mto1 deficiency
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
combined oxidative phosphorylation deficiency 10:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


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)

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 : 75 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.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 10

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 10

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 10:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 seizures 32 occasional (7.5%) HP:0001250
2 spasticity 32 occasional (7.5%) HP:0001257
3 failure to thrive 32 HP:0001508
4 global developmental delay 32 HP:0001263
5 optic atrophy 32 occasional (7.5%) HP:0000648
6 cognitive impairment 32 HP:0100543
7 hypertrophic cardiomyopathy 32 HP:0001639
8 arrhythmia 32 HP:0011675
9 hypoglycemia 32 HP:0001943
10 feeding difficulties 32 HP:0011968
11 dystonia 32 occasional (7.5%) HP:0001332
12 increased serum lactate 32 HP:0002151
13 lactic acidosis 32 HP:0003128
14 metabolic acidosis 32 HP:0001942
15 generalized hypotonia 32 HP:0001290
16 small for gestational age 32 HP:0001518
17 hyperalaninemia 32 occasional (7.5%) HP:0003348
18 poor speech 32 HP:0002465

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 10

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

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

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 10

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

41
Brain

Publications for Combined Oxidative Phosphorylation Deficiency 10

Variations for Combined Oxidative Phosphorylation Deficiency 10

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

75
# 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.1933dupA (p.Arg645Lysfs) duplication Pathogenic rs397518449 GRCh37 Chromosome 6, 74207560: 74207560
2 MTO1 NM_133645.2(MTO1): c.1933dupA (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

Expression for Combined Oxidative Phosphorylation Deficiency 10

Search GEO for disease gene expression data 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

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