COXPD3
MCID: CMB014
MIFTS: 24

Combined Oxidative Phosphorylation Deficiency 3 (COXPD3)

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

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 3

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 3:

Name: Combined Oxidative Phosphorylation Deficiency 3 58 76 30 13 6 74
Coxpd3 58 76
Fatal Mitochondrial Disease Due to Combined Oxidative Phosphorylation Defect Type 3 60
Encephalomyopathy, Respiratory Failure, and Lactic Acidosis 58
Concentric Cardiomyopathy, Hypotonia, and Lactic Acidosis 58
Encephalomyopathy Respiratory Failure and Lactic Acidosis 76
Concentric Cardiomyopathy Hypotonia and Lactic Acidosis 76
Combined Oxidative Phosphorylation Deficiency, Type 3 41
Fatal Mitochondrial Disease Due to Coxpd3 60

Characteristics:

Orphanet epidemiological data:

60
fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype


HPO:

33
combined oxidative phosphorylation deficiency 3:
Onset and clinical course phenotypic variability
Mortality/Aging death in childhood
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


Summaries for Combined Oxidative Phosphorylation Deficiency 3

UniProtKB/Swiss-Prot : 76 Combined oxidative phosphorylation deficiency 3: A mitochondrial disease resulting in severe metabolic acidosis with encephalomyopathy or with hypertrophic cardiomyopathy. Patients show a severe defect in mitochondrial translation leading to a failure to assemble adequate amounts of three of the oxidative phosphorylation complexes.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 3, is also known as coxpd3, and has symptoms including seizures, ataxia and muscle weakness. An important gene associated with Combined Oxidative Phosphorylation Deficiency 3 is TSFM (Ts Translation Elongation Factor, Mitochondrial). Affiliated tissues include brain, and related phenotypes are dilated cardiomyopathy and seizures

Description from OMIM: 610505

Related Diseases for Combined Oxidative Phosphorylation Deficiency 3

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 3

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 3:

33 (show all 31)
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 33 occasional (7.5%) HP:0001644
2 seizures 33 HP:0001250
3 ataxia 33 HP:0001251
4 muscle weakness 33 HP:0001324
5 tremor 33 HP:0001337
6 respiratory insufficiency 33 HP:0002093
7 global developmental delay 33 HP:0001263
8 hepatomegaly 33 HP:0002240
9 visual impairment 33 HP:0000505
10 optic atrophy 33 HP:0000648
11 neonatal hypotonia 33 HP:0001319
12 feeding difficulties in infancy 33 HP:0008872
13 cognitive impairment 33 HP:0100543
14 patent ductus arteriosus 33 HP:0001643
15 intrauterine growth retardation 33 HP:0001511
16 dystonia 33 HP:0001332
17 ventriculomegaly 33 HP:0002119
18 increased serum lactate 33 HP:0002151
19 lactic acidosis 33 HP:0003128
20 respiratory failure 33 HP:0002878
21 optic neuropathy 33 HP:0001138
22 decreased fetal movement 33 HP:0001558
23 generalized hypotonia 33 HP:0001290
24 encephalopathy 33 HP:0001298
25 patent foramen ovale 33 HP:0001655
26 decreased activity of mitochondrial complex i 33 HP:0011923
27 rhabdomyolysis 33 HP:0003201
28 decreased activity of mitochondrial complex iii 33 HP:0011924
29 elevated serum creatine kinase 33 HP:0003236
30 concentric hypertrophic cardiomyopathy 33 HP:0005157
31 decreased activity of mitochondrial complex iv 33 HP:0008347

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
ataxia
tremor
global developmental delay
cognitive impairment
more
Head And Neck Eyes:
visual impairment
optic atrophy
optic neuropathy

Laboratory Abnormalities:
increased serum lactate
increased serum creatine kinase
increased serum ketones
increased serum ammonia
decreased activity of mitochondrial respiratory complexes i, iii, and iv

Respiratory:
respiratory failure

Cardiovascular Vascular:
patent ductus arteriosus (in some patients)

Prenatal Manifestations Movement:
decreased fetal movements

Neurologic Peripheral Nervous System:
axonal sensorimotor neuropathy (in some patients)

Muscle Soft Tissue:
muscle weakness
rhabdomyolysis
hypotonia
ragged red fibers seen on muscle biopsy
cox-deficient fibers

Growth Other:
intrauterine growth retardation

Metabolic Features:
lactic acidosis

Abdomen Gastrointestinal:
poor feeding

Abdomen Liver:
hepatomegaly (in some patients)

Cardiovascular Heart:
patent foramen ovale (in some patients)
dilated cardiomyopathy (in some patients)
concentric hypertrophic cardiomyopathy (in some patients)

Clinical features from OMIM:

610505

UMLS symptoms related to Combined Oxidative Phosphorylation Deficiency 3:


seizures, ataxia, muscle weakness, tremor

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 3

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 3

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 3

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 3:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 3 30 TSFM

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 3

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 3:

42
Brain

Publications for Combined Oxidative Phosphorylation Deficiency 3

Variations for Combined Oxidative Phosphorylation Deficiency 3

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 3:

76
# Symbol AA change Variation ID SNP ID
1 TSFM p.Arg312Trp VAR_068973 rs121909485
2 TSFM p.Cys240Ser VAR_077697 rs750799705

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TSFM NM_001172696.1(TSFM): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic rs121909485 GRCh37 Chromosome 12, 58190322: 58190322
2 TSFM NM_001172696.1(TSFM): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic rs121909485 GRCh38 Chromosome 12, 57796539: 57796539
3 TSFM NM_005726.5(TSFM): c.856C> T (p.Gln286Ter) single nucleotide variant Likely pathogenic rs201754030 GRCh37 Chromosome 12, 58190244: 58190244
4 TSFM NM_005726.5(TSFM): c.856C> T (p.Gln286Ter) single nucleotide variant Likely pathogenic rs201754030 GRCh38 Chromosome 12, 57796461: 57796461
5 TSFM NM_005726.5(TSFM): c.944G> A (p.Cys315Tyr) single nucleotide variant Likely pathogenic rs587777688 GRCh37 Chromosome 12, 58190332: 58190332
6 TSFM NM_005726.5(TSFM): c.944G> A (p.Cys315Tyr) single nucleotide variant Likely pathogenic rs587777688 GRCh38 Chromosome 12, 57796549: 57796549
7 TSFM NM_001172696.1(TSFM): c.57+4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs587777689 GRCh37 Chromosome 12, 58176645: 58176645
8 TSFM NM_001172696.1(TSFM): c.57+4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs587777689 GRCh38 Chromosome 12, 57782862: 57782862

Expression for Combined Oxidative Phosphorylation Deficiency 3

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 3.

Pathways for Combined Oxidative Phosphorylation Deficiency 3

GO Terms for Combined Oxidative Phosphorylation Deficiency 3

Cellular components related to Combined Oxidative Phosphorylation Deficiency 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular GO:0005622 8.32 EEF1AKMT3

Sources for Combined Oxidative Phosphorylation Deficiency 3

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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