Combined Oxidative Phosphorylation Deficiency 33; Coxpd33

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 ).

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.


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Combined Oxidative Phosphorylation Deficiency 33; Coxpd33 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
C1QBP.

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100 %
Genes
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By Blueprint Genetics (Finland).

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

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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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