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Complement Component 5 Deficiency; C5d

Table of contents:

Description

A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections.

Genes related to Complement Component 5 Deficiency; C5d

  • C5

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Complement Component 5 Deficiency; C5d

  • Diarrhea
  • Recurrent infections
  • Pneumonia
  • Otitis media
  • Inflammatory abnormality of the skin
  • Meningitis
  • Recurrent bacterial infections
  • Systemic lupus erythematosus
  • Seborrheic dermatitis
  • Hemoglobinuria

And another 7 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.

Alternative names

Complement Component 5 Deficiency; C5d Is also known as c5 deficiency.

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.

Complement Component 5 Deficiency; C5d Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Atypical hemolytic uremic syndrome.

By Northern Molecular Genetics Service Newcastle Upon Tyne Hospitals NHS Foundation Trust (United Kingdom).

CFB, THBD, C3, C5, ADAMTS13, INF2, MMACHC, DGKE, CFH, CFI, CD46
Specificity
10 %
Genes
100 %
C5 deficiency.

By Centogene AG - the Rare Disease Company (Germany).

C5
Specificity
100 %
Genes
100 %
Complement deficiencies Panel.

By CeGaT GmbH (Germany).

CFB, THBD, SERPING1, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4A, C4B, C5, C6, C7, C8A, C8B, C8G, C9, CD59 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
C5.

By Fulgent Genetics Fulgent Genetics (United States).

C5
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 -3 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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