Combined Oxidative Phosphorylation Deficiency 33; Coxpd33

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

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 (OMIM ).

Genes related to Combined Oxidative Phosphorylation Deficiency 33; Coxpd33

C1QBP

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Clinical Features

Top most frequent phenotypes and symptoms related to Combined Oxidative Phosphorylation Deficiency 33; Coxpd33

Muscle weakness
Ptosis
Peripheral neuropathy
Hepatomegaly
Fatigue
Cardiomyopathy
Myopathy
Encephalopathy
Elevated serum creatine phosphokinase
Constipation

And another 20 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Combined Oxidative Phosphorylation Deficiency 33; Coxpd33 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
C1QBP. By Fulgent Genetics Fulgent Genetics (United States). C1QBP Specificity 100 % Genes 100 %
Complement System Disorder Panel. By Blueprint Genetics (Finland). CFB, SPAG1, THBD, SERPING1, RSPH1, C1QA, C1QB, C1QBP, C1QC, C1S, C2, VTN, C3, C3AR1, C4BPA, C4BPB, C5, C5AR1, C6, C7 , (...) View the complete list with 55 more genes Panel complete gene list CFB, SPAG1, THBD, SERPING1, RSPH1, C1QA, C1QB, C1QBP, C1QC, C1S, C2, VTN, C3, C3AR1, C4BPA, C4BPB, C5, C5AR1, C6, C7, C8A, C8B, C8G, C9, ADIPOQ, CD93, NME8, LRRC6, CD59, VSIG4, COLEC11, CCNO, DNAI2, HYDIN, ZMYND10, DNAAF2, CLU, RSPH9, DNAAF4, RSPH4A, DNAL1, CR2, CRP, ADIPOR1, ADIPOR2, DRC1, CCDC39, ARMC4, OFD1, DNAAF5, CCDC40, CCDC114, CD55, CFD, DGKE, DNAH11, DNAH5, DNAI1, CCDC65, DNAAF3, DNAAF1, CCDC103, FCN1, FCN2, FCN3, C5AR2, CFH, CFI, MASP1, MASP2, MAT2A, CD46, CFP, PIGA, PTX3 Specificity 2 % Genes 100 %

Panel Name, Specifity and genes Tested/covered

C1QBP.

By Fulgent Genetics Fulgent Genetics (United States).

C1QBP

Specificity
100 %

Genes
100 %

Complement System Disorder Panel.

By Blueprint Genetics (Finland).

CFB, SPAG1, THBD, SERPING1, RSPH1, C1QA, C1QB, C1QBP, C1QC, C1S, C2, VTN, C3, C3AR1, C4BPA, C4BPB, C5, C5AR1, C6, C7 , (...)

View the complete list with 55 more genes

Specificity
2 %

Genes
100 %

You can get up to -6 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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