Complement Component 2 Deficiency; C2d

Table of contents:

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

Genes related to Complement Component 2 Deficiency; C2d

View recommended genes panels

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.

Click here to know more about Mendelian.

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 Panel complete gene list CFB, THBD, SERPING1, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4A, C4B, C5, C6, C7, C8A, C8B, C8G, C9, CD59, CFHR3, COLEC11, CFD, DGKE, FCN3, CFH, CFHR1, CFI, ITGB2, MASP1, MASP2, CD46, CFP, PIGA 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

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR DEAFNESS, AUTOSOMAL DOMINANT 65; DFNA65 ISOLATED OXYCEPHALY AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME