COXPD33
MCID: CMB082
MIFTS: 24

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 12 72 29 6 15 17
Coxpd33 57 12 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
combined oxidative phosphorylation deficiency 33:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset


Classifications:



Summaries for Combined Oxidative Phosphorylation Deficiency 33

UniProtKB/Swiss-Prot : 72 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 and liver, and related phenotypes are hypothyroidism and hepatomegaly

Disease Ontology : 12 A combined oxidative phosphorylation deficiency that has material basis in homozygous or compound heterozygous mutation in C1QBP on chromosome 17p13.2.

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) (Updated 20-May-2021)

Related Diseases for Combined Oxidative Phosphorylation Deficiency 33

Symptoms & Phenotypes for Combined Oxidative Phosphorylation Deficiency 33

Human phenotypes related to Combined Oxidative Phosphorylation Deficiency 33:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hypothyroidism 31 very rare (1%) HP:0000821
2 hepatomegaly 31 very rare (1%) HP:0002240
3 sensorineural hearing impairment 31 very rare (1%) HP:0000407
4 elevated hepatic transaminase 31 very rare (1%) HP:0002910
5 nephrotic syndrome 31 very rare (1%) HP:0000100
6 ptosis 31 HP:0000508
7 myopathy 31 HP:0003198
8 fatigue 31 HP:0012378
9 cardiomegaly 31 HP:0001640
10 elevated serum creatine kinase 31 HP:0003236
11 progressive external ophthalmoplegia 31 HP:0000590
12 left ventricular hypertrophy 31 HP:0001712
13 amblyopia 31 HP:0000646
14 increased serum lactate 31 HP:0002151
15 oligohydramnios 31 HP:0001562
16 astigmatism 31 HP:0000483
17 cardiomyopathy 31 HP:0001638
18 metabolic acidosis 31 HP:0001942
19 exercise intolerance 31 HP:0003546

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
ptosis
progressive external ophthalmoplegia
amblyopia
astigmatism

Cardiovascular Heart:
cardiomegaly
left ventricular hypertrophy
cardiomyopathy

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 (Updated 20-May-2021)

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

Genetic tests related to Combined Oxidative Phosphorylation Deficiency 33:

# Genetic test Affiliating Genes
1 Combined Oxidative Phosphorylation Deficiency 33 29 C1QBP

Anatomical Context for Combined Oxidative Phosphorylation Deficiency 33

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

40
Kidney, Liver

Publications for Combined Oxidative Phosphorylation Deficiency 33

Articles related to Combined Oxidative Phosphorylation Deficiency 33:

# Title Authors PMID Year
1
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. 57 6
28942965 2017
2
p32/gC1qR is indispensable for fetal development and mitochondrial translation: importance of its RNA-binding ability. 57
22904065 2012
3
Early Onset of Combined Oxidative Phosphorylation Deficiency in Two Chinese Brothers Caused by a Homozygous (Leu275Phe) Mutation in the C1QBP Gene. 61
33344382 2020

Variations for Combined Oxidative Phosphorylation Deficiency 33

ClinVar genetic disease variations for Combined Oxidative Phosphorylation Deficiency 33:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 C1QBP NM_001212.4(C1QBP):c.739G>T (p.Gly247Trp) SNV Pathogenic 441244 rs1394499137 GRCh37: 17:5336445-5336445
GRCh38: 17:5433125-5433125
2 C1QBP NM_001212.4(C1QBP):c.557G>C (p.Cys186Ser) SNV Pathogenic 441241 rs748497469 GRCh37: 17:5337008-5337008
GRCh38: 17:5433688-5433688
3 C1QBP NM_001212.4(C1QBP):c.612C>G (p.Phe204Leu) SNV Pathogenic 441242 rs767427194 GRCh37: 17:5336700-5336700
GRCh38: 17:5433380-5433380
4 C1QBP NM_001212.4(C1QBP):c.823C>T (p.Leu275Phe) SNV Pathogenic 441245 rs1555532484 GRCh37: 17:5336361-5336361
GRCh38: 17:5433041-5433041
5 C1QBP NM_001212.4(C1QBP):c.824T>C (p.Leu275Pro) SNV Pathogenic 441243 rs1555532483 GRCh37: 17:5336360-5336360
GRCh38: 17:5433040-5433040
6 C1QBP NM_001212.4(C1QBP):c.562_564del (p.Tyr188del) Deletion Pathogenic 441246 rs755568057 GRCh37: 17:5337001-5337003
GRCh38: 17:5433681-5433683

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

72
# Symbol AA change Variation ID SNP ID
1 C1QBP p.Gly247Trp VAR_080394 rs139449913
2 C1QBP p.Leu275Pro VAR_080396 rs155553248

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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