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 57 75 29 13 6 73
Coxpd3 57 75
Fatal Mitochondrial Disease Due to Combined Oxidative Phosphorylation Defect Type 3 59
Encephalomyopathy, Respiratory Failure, and Lactic Acidosis 57
Concentric Cardiomyopathy, Hypotonia, and Lactic Acidosis 57
Encephalomyopathy Respiratory Failure and Lactic Acidosis 75
Concentric Cardiomyopathy Hypotonia and Lactic Acidosis 75
Combined Oxidative Phosphorylation Deficiency, Type 3 40
Fatal Mitochondrial Disease Due to Coxpd3 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype


HPO:

32
combined oxidative phosphorylation deficiency 3:
Onset and clinical course phenotypic variability
Mortality/Aging death in childhood
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Combined Oxidative Phosphorylation Deficiency 3

UniProtKB/Swiss-Prot : 75 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 seizures and ataxia

Description from OMIM: 610505

Related Diseases for Combined Oxidative Phosphorylation Deficiency 3

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 3

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 3:

32 (show all 31)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 ataxia 32 HP:0001251
3 muscle weakness 32 HP:0001324
4 tremor 32 HP:0001337
5 respiratory insufficiency 32 HP:0002093
6 global developmental delay 32 HP:0001263
7 hepatomegaly 32 HP:0002240
8 visual impairment 32 HP:0000505
9 optic atrophy 32 HP:0000648
10 neonatal hypotonia 32 HP:0001319
11 feeding difficulties in infancy 32 HP:0008872
12 cognitive impairment 32 HP:0100543
13 elevated serum creatine phosphokinase 32 HP:0003236
14 patent ductus arteriosus 32 HP:0001643
15 intrauterine growth retardation 32 HP:0001511
16 dystonia 32 HP:0001332
17 dilated cardiomyopathy 32 occasional (7.5%) HP:0001644
18 ventriculomegaly 32 HP:0002119
19 increased serum lactate 32 HP:0002151
20 lactic acidosis 32 HP:0003128
21 respiratory failure 32 HP:0002878
22 optic neuropathy 32 HP:0001138
23 decreased fetal movement 32 HP:0001558
24 generalized hypotonia 32 HP:0001290
25 encephalopathy 32 HP:0001298
26 patent foramen ovale 32 HP:0001655
27 rhabdomyolysis 32 HP:0003201
28 decreased activity of mitochondrial complex i 32 HP:0011923
29 concentric hypertrophic cardiomyopathy 32 HP:0005157
30 decreased activity of mitochondrial complex iii 32 HP:0011924
31 decreased activity of mitochondrial complex iv 32 HP:0008347

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 29 TSFM

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 3

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

41
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:

75
# 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 8.62 EEF1AKMT3 TSFM

Sources for Combined Oxidative Phosphorylation Deficiency 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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