COXPD23
MCID: CMB054
MIFTS: 22

Combined Oxidative Phosphorylation Deficiency 23 (COXPD23)

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

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 23

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 23:

Name: Combined Oxidative Phosphorylation Deficiency 23 58 76 30 6 74
Coxpd23 58 60 76
Combined Oxidative Phosphorylation Defect Type 23 60 17
Oxidative Phosphorylation Deficiency, Combined, Type 23 41

Characteristics:

Orphanet epidemiological data:

60
combined oxidative phosphorylation defect type 23
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; Age of death: infantile;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset in early childhood


HPO:

33
combined oxidative phosphorylation deficiency 23:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 23

OMIM : 58 Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). (616198)

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 23, is also known as coxpd23. An important gene associated with Combined Oxidative Phosphorylation Deficiency 23 is GTPBP3 (GTP Binding Protein 3, Mitochondrial). Affiliated tissues include thalamus, brain and heart, and related phenotypes are global developmental delay and seizures

UniProtKB/Swiss-Prot : 76 Combined oxidative phosphorylation deficiency 23: An autosomal recessive mitochondrial disorder characterized by hypertrophic cardiomyopathy and/or neurologic symptoms with onset in early childhood. Disease features include hypertrophic cardiomyopathy, hypotonia, delayed psychomotor development, lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Disease severity is variable, ranging from death in early infancy to survival into the second decade of life.

Related Diseases for Combined Oxidative Phosphorylation Deficiency 23

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 23

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 23:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 33 frequent (33%) HP:0001263
2 seizures 33 occasional (7.5%) HP:0001250
3 visual impairment 33 occasional (7.5%) HP:0000505
4 arrhythmia 33 HP:0011675
5 feeding difficulties 33 HP:0011968
6 congestive heart failure 33 HP:0001635
7 intrauterine growth retardation 33 HP:0001511
8 cardiomyopathy 33 HP:0001638
9 increased serum lactate 33 HP:0002151
10 lactic acidosis 33 HP:0003128
11 generalized hypotonia 33 HP:0001290

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
arrhythmia
cardiomyopathy
cardiac failures

Laboratory Abnormalities:
increased serum lactate

Muscle Soft Tissue:
hypotonia
decreased activity of mitochondrial complexes i and iv seen on skeletal muscle biopsy

Neurologic Central Nervous System:
seizures (in some patients)
delayed psychomotor development, variable
t2-weighted hyperintense lesions in the thalamus, basal ganglia, and brainstem

Growth Other:
intrauterine growth retardation

Metabolic Features:
lactic acidosis

Abdomen Gastrointestinal:
feeding problems

Head And Neck Eyes:
visual impairment (in some patients)

Clinical features from OMIM:

616198

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 23

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 23

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 23

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 23:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 23 30 GTPBP3

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 23

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 23:

42
Thalamus, Brain, Heart, Skeletal Muscle

Publications for Combined Oxidative Phosphorylation Deficiency 23

Variations for Combined Oxidative Phosphorylation Deficiency 23

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 23:

76
# Symbol AA change Variation ID SNP ID
1 GTPBP3 p.Glu142Lys VAR_073299
2 GTPBP3 p.Glu159Val VAR_073300 rs730880255
3 GTPBP3 p.Ala162Pro VAR_073301
4 GTPBP3 p.Ala222Gly VAR_073302 rs373370177
5 GTPBP3 p.Pro257His VAR_073304
6 GTPBP3 p.Asp337His VAR_073307 rs886037735
7 GTPBP3 p.Glu459Lys VAR_073308 rs886037734

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 23:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 GTPBP3 NM_001195422.1(GTPBP3): c.1357dup (p.Arg453Profs) duplication Pathogenic rs869320746 GRCh37 Chromosome 19, 17452324: 17452324
2 GTPBP3 NM_001195422.1(GTPBP3): c.1357dup (p.Arg453Profs) duplication Pathogenic rs869320746 GRCh38 Chromosome 19, 17341515: 17341515
3 GTPBP3 NM_001195422.1(GTPBP3): c.1441G> A (p.Glu481Lys) single nucleotide variant Pathogenic rs886037734 GRCh37 Chromosome 19, 17452408: 17452408
4 GTPBP3 NM_001195422.1(GTPBP3): c.1441G> A (p.Glu481Lys) single nucleotide variant Pathogenic rs886037734 GRCh38 Chromosome 19, 17341599: 17341599
5 GTPBP3 NM_001195422.1(GTPBP3): c.542A> T (p.Glu181Val) single nucleotide variant Pathogenic rs730880255 GRCh37 Chromosome 19, 17449435: 17449435
6 GTPBP3 NM_001195422.1(GTPBP3): c.542A> T (p.Glu181Val) single nucleotide variant Pathogenic rs730880255 GRCh38 Chromosome 19, 17338626: 17338626
7 GTPBP3 NM_001195422.1(GTPBP3): c.1030G> C (p.Ala344Pro) single nucleotide variant Pathogenic rs372174278 GRCh38 Chromosome 19, 17339589: 17339589
8 GTPBP3 NM_001195422.1(GTPBP3): c.1030G> C (p.Ala344Pro) single nucleotide variant Pathogenic rs372174278 GRCh37 Chromosome 19, 17450398: 17450398
9 GTPBP3 NM_001195422.1(GTPBP3): c.1075G> C (p.Asp359His) single nucleotide variant Pathogenic rs886037735 GRCh37 Chromosome 19, 17451887: 17451887
10 GTPBP3 NM_001195422.1(GTPBP3): c.1075G> C (p.Asp359His) single nucleotide variant Pathogenic rs886037735 GRCh38 Chromosome 19, 17341078: 17341078
11 GTPBP3 NM_032620.3(GTPBP3): c.32_33delAAinsGTG (p.Gln11Argfs) indel Pathogenic rs886037736 GRCh38 Chromosome 19, 17337643: 17337644
12 GTPBP3 NM_032620.3(GTPBP3): c.32_33delAAinsGTG (p.Gln11Argfs) indel Pathogenic rs886037736 GRCh37 Chromosome 19, 17448452: 17448453
13 GTPBP3 NM_001195422.1(GTPBP3): c.506C> T (p.Ala169Val) single nucleotide variant Likely pathogenic rs774708853 GRCh37 Chromosome 19, 17449399: 17449399
14 GTPBP3 NM_001195422.1(GTPBP3): c.506C> T (p.Ala169Val) single nucleotide variant Likely pathogenic rs774708853 GRCh38 Chromosome 19, 17338590: 17338590
15 GTPBP3 NM_001195422.1(GTPBP3): c.583C> T (p.Arg195Trp) single nucleotide variant Likely pathogenic rs1274363168 GRCh37 Chromosome 19, 17449476: 17449476
16 GTPBP3 NM_001195422.1(GTPBP3): c.583C> T (p.Arg195Trp) single nucleotide variant Likely pathogenic rs1274363168 GRCh38 Chromosome 19, 17338667: 17338667
17 GTPBP3 NM_001195422.1(GTPBP3): c.709G> T (p.Glu237Ter) single nucleotide variant Pathogenic rs1555726849 GRCh37 Chromosome 19, 17449814: 17449814
18 GTPBP3 NM_001195422.1(GTPBP3): c.709G> T (p.Glu237Ter) single nucleotide variant Pathogenic rs1555726849 GRCh38 Chromosome 19, 17339005: 17339005
19 GTPBP3 NM_001195422.1(GTPBP3): c.1178T> C (p.Leu393Pro) single nucleotide variant Likely pathogenic rs770871640 GRCh37 Chromosome 19, 17451990: 17451990
20 GTPBP3 NM_001195422.1(GTPBP3): c.1178T> C (p.Leu393Pro) single nucleotide variant Likely pathogenic rs770871640 GRCh38 Chromosome 19, 17341181: 17341181

Expression for Combined Oxidative Phosphorylation Deficiency 23

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 23.

Pathways for Combined Oxidative Phosphorylation Deficiency 23

GO Terms for Combined Oxidative Phosphorylation Deficiency 23

Sources for Combined Oxidative Phosphorylation Deficiency 23

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