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Complement component 3 deficiency

Disease Export to PDF
Name:
Complement component 3 deficiency
Description:
Complement component 3 deficiency is a rare, genetic, primary immunodeficiency characterized by susceptibility to infection (mainly by gram negative bacteria) due to extremely low C3 plasma levels. Patients typically present recurrent episodes of sinusitis, tonsillitis, and/or otitis, as well as upper and lower respiratory tract infections (including pneumonia) and skin infections, such as erythema multiforme. Autoimmune disease resembling systemic lupus erythematosus and mesangiocapillary or membranoproliferative glomerulonephritis may develop, resulting in renal failure.
ORPHAcode:
280133
Synonyms:
C3 deficiency
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
C3
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Atypical Hemolytic Uremic Syndrome (aHUS) and Complement disorders (17 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADAMTS13 100.00 1 NM_139027.6
    C3 100.00 1 NM_000064.4
    C5 100.00 1 NM_001735.3
    CD46 100.00 1 NM_172351.3
    CFB 100.00 1 NM_001710.6
    CFH 100.00 1 NM_000186.4
    CFHR1 93.00 1 NM_002113.3
    CFHR2 91.00 1 NM_005666.4
    CFHR3 100.00 1 NM_021023.6
    CFHR4 100.00 1 NM_001201550.3
    CFHR5 100.00 1 NM_030787.4
    CFI 100.00 1 NM_000204.5
    DGKE 100.00 1 NM_003647.3
    MMACHC 100.00 1 NM_015506.3
    PLG 100.00 1 NM_000301.5
    THBD 100.00 1 NM_000361.3