Complement Component 8 Deficiency, Type I; C8d1

Table of contents:

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

Description

Patients with deficiency of C8 suffer from recurrent neisserial infections, predominantly with meningococcus infection of rare serotypes. Most such patients are discovered among those having their first episode of meningitis at ages older than 10 years (Ross and Densen, 1984).Two kinds of inherited C8 deficiency have been reported in man: type I, in which only C8 alpha and C8 gamma are deficient, and type II (OMIM ), in which only C8 beta (C8B ) is deficient (Marcus et al., 1982; Tedesco et al., 1983). The 2 types are clinically indistinguishable (Ross and Densen, 1984).

Genes related to Complement Component 8 Deficiency, Type I; C8d1

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Clinical Features

Phenotypes and symptoms related to Complement Component 8 Deficiency, Type I; C8d1

Meningitis
Systemic lupus erythematosus
C8 deficiency
Recurrent Neisserial infections

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 8 Deficiency, Type I; C8d1 Is also known as c8ag deficiency, c8 deficiency, type i, c8 alpha-gamma 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 8 Deficiency, Type I; C8d1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
C8A. By Fulgent Genetics Fulgent Genetics (United States). C8A 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 %
ATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL. By Laboratorio de Genetica Clinica SL (Spain). CFB, THBD, C1S, C2, C3, C3AR1, C8A, C9, CFHR4, CFHR3, CR1, CR2, MMACHC, CFHR5, DGKE, F12, CFH, CFHR1, CFHR2, CFI , (...) View the complete list with 4 more genes Panel complete gene list CFB, THBD, C1S, C2, C3, C3AR1, C8A, C9, CFHR4, CFHR3, CR1, CR2, MMACHC, CFHR5, DGKE, F12, CFH, CFHR1, CFHR2, CFI, MASP1, CD46, PHB, PLG Specificity 5 % Genes 100 %

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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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