Complement Component 2 Deficiency; C2d

Clinical Features

Top most frequent phenotypes and symptoms related to Complement Component 2 Deficiency; C2d

  • Hypertension
  • Renal insufficiency
  • Immunodeficiency
  • Recurrent infections
  • Arthralgia
  • Arthritis
  • Autoimmunity
  • Skin rash
  • Leukemia
  • Vasculitis

And another 10 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 2 Deficiency; C2d Is also known as c2 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 2 Deficiency; C2d Recommended genes panels

Panel Name, Specifity and genes Tested/covered
C2 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

C2
Specificity
100 %
Genes
100 %
C2 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

C2
Specificity
100 %
Genes
100 %
C2 deficiency (sequence analysis of C2 gene).

By CGC Genetics (Portugal).

C2
Specificity
100 %
Genes
100 %
C2 deficiency.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

C2
Specificity
100 %
Genes
100 %
C2 deficiency.

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

C2
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 %
Macular Degeneration NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

RLBP1, RPGR, CFB, TLR4, C2, C3, ELOVL4, RAX2, HMCN1, CNGB3, CST3, CX3CR1, EFEMP1, ABCA4, ERCC6, FBLN5, CFH, CFI, HTRA1, PRPH2
Specificity
5 %
Genes
100 %
C2.

By Fulgent Genetics Fulgent Genetics (United States).

C2
Specificity
100 %
Genes
100 %

You can get up to 5 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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