COXPD33
MCID: CMB082
MIFTS: 20

Combined Oxidative Phosphorylation Deficiency 33 (COXPD33)

Categories: Cardiovascular diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Combined Oxidative Phosphorylation Deficiency 33

MalaCards integrated aliases for Combined Oxidative Phosphorylation Deficiency 33:

Name: Combined Oxidative Phosphorylation Deficiency 33 57 75 6
Coxpd33 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
four unrelated patients have been reported (last curated october 2017)
neonatal onset and death in infancy (in some patients)
adult onset (in some patients)


HPO:

32
combined oxidative phosphorylation deficiency 33:
Onset and clinical course adult onset phenotypic variability


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 33

UniProtKB/Swiss-Prot : 75 Combined oxidative phosphorylation deficiency 33: An autosomal recessive disorder caused by multiple mitochondrial respiratory chain defects and impaired mitochondrial energy metabolism. Clinical manifestations are highly variable. Affected infants present with cardiomyopathy accompanied by multisystemic features involving liver, kidney, and brain. Death in infancy is observed in some patients. Children and adults present with myopathy and progressive external ophthalmoplegia.

MalaCards based summary : Combined Oxidative Phosphorylation Deficiency 33, is also known as coxpd33. An important gene associated with Combined Oxidative Phosphorylation Deficiency 33 is C1QBP (Complement C1q Binding Protein). Affiliated tissues include kidney, liver and brain, and related phenotypes are ptosis and myopathy

OMIM : 57 COXPD33 is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. A common finding is cardiomyopathy and increased serum lactate (summary by Feichtinger et al., 2017). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). (617713)

Related Diseases for Combined Oxidative Phosphorylation Deficiency 33

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 33

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
progressive external ophthalmoplegia
amblyopia
astigmatism

Cardiovascular Heart:
cardiomegaly
cardiomyopathy
left ventricular hypertrophy

Metabolic Features:
metabolic acidosis

Abdomen Liver:
hepatomegaly (1 patient)

Genitourinary Kidneys:
nephrosis (1 patient)
kidney failure (1 patient)

Endocrine Features:
hypothyroidism (1 patient)

Muscle Soft Tissue:
myopathy
exercise intolerance
weakness
easy fatigue

Laboratory Abnormalities:
increased serum lactate
increased serum creatine kinase
abnormal liver enzymes (in some patients)
combined deficiency of mitochondrial respiratory complex activity, variable
mtdna depletion (in some patients)

Head And Neck Ears:
sensorineural hearing loss (1 patient)

Respiratory:
cardiorespiratory insufficiency

Neurologic Peripheral Nervous System:
sensory peripheral neuropathy (in some patients)

Prenatal Manifestations Amniotic Fluid:
oligohydramnios (in some affected pregnancies)


Clinical features from OMIM:

617713

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 33:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 HP:0000508
2 myopathy 32 HP:0003198
3 fatigue 32 HP:0012378
4 cardiomegaly 32 HP:0001640
5 elevated serum creatine phosphokinase 32 HP:0003236
6 cardiomyopathy 32 HP:0001638
7 nephrotic syndrome 32 very rare (1%) HP:0000100
8 increased serum lactate 32 HP:0002151
9 progressive external ophthalmoplegia 32 HP:0000590
10 left ventricular hypertrophy 32 HP:0001712
11 amblyopia 32 HP:0000646
12 astigmatism 32 HP:0000483
13 exercise intolerance 32 HP:0003546
14 elevated hepatic transaminase 32 very rare (1%) HP:0002910

Drugs & Therapeutics for Combined Oxidative Phosphorylation Deficiency 33

Search Clinical Trials , NIH Clinical Center for Combined Oxidative Phosphorylation Deficiency 33

Genetic Tests for Combined Oxidative Phosphorylation Deficiency 33

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 33

MalaCards organs/tissues related to Combined Oxidative Phosphorylation Deficiency 33:

41
Kidney, Liver, Brain

Publications for Combined Oxidative Phosphorylation Deficiency 33

Variations for Combined Oxidative Phosphorylation Deficiency 33

UniProtKB/Swiss-Prot genetic disease variations for Combined Oxidative Phosphorylation Deficiency 33:

75
# Symbol AA change Variation ID SNP ID
1 C1QBP p.Gly247Trp VAR_080394
2 C1QBP p.Leu275Pro VAR_080396

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 33:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 C1QBP NM_001212.3(C1QBP): c.557G> C (p.Cys186Ser) single nucleotide variant Pathogenic rs748497469 GRCh38 Chromosome 17, 5433688: 5433688
2 C1QBP NM_001212.3(C1QBP): c.557G> C (p.Cys186Ser) single nucleotide variant Pathogenic rs748497469 GRCh37 Chromosome 17, 5337008: 5337008
3 C1QBP NM_001212.3(C1QBP): c.612C> G (p.Phe204Leu) single nucleotide variant Pathogenic rs767427194 GRCh37 Chromosome 17, 5336700: 5336700
4 C1QBP NM_001212.3(C1QBP): c.612C> G (p.Phe204Leu) single nucleotide variant Pathogenic rs767427194 GRCh38 Chromosome 17, 5433380: 5433380
5 C1QBP NM_001212.3(C1QBP): c.824T> C (p.Leu275Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 5336360: 5336360
6 C1QBP NM_001212.3(C1QBP): c.824T> C (p.Leu275Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 5433040: 5433040
7 C1QBP NM_001212.3(C1QBP): c.739G> T (p.Gly247Trp) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 5433125: 5433125
8 C1QBP NM_001212.3(C1QBP): c.739G> T (p.Gly247Trp) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 5336445: 5336445
9 C1QBP NM_001212.3(C1QBP): c.823C> T (p.Leu275Phe) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 5336361: 5336361
10 C1QBP NM_001212.3(C1QBP): c.823C> T (p.Leu275Phe) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 5433041: 5433041
11 C1QBP NM_001212.3(C1QBP): c.562_564delTAT (p.Tyr188del) deletion Pathogenic rs755568057 GRCh37 Chromosome 17, 5337001: 5337003
12 C1QBP NM_001212.3(C1QBP): c.562_564delTAT (p.Tyr188del) deletion Pathogenic rs755568057 GRCh38 Chromosome 17, 5433681: 5433683

Expression for Combined Oxidative Phosphorylation Deficiency 33

Search GEO for disease gene expression data for Combined Oxidative Phosphorylation Deficiency 33.

Pathways for Combined Oxidative Phosphorylation Deficiency 33

GO Terms for Combined Oxidative Phosphorylation Deficiency 33

Sources for Combined Oxidative Phosphorylation Deficiency 33

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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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