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Immunodeficiency due to a late component of complement deficiency

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Name:
Immunodeficiency due to a late component of complement deficiency
Description:
Immunodeficiency due to a late component of complement deficiency is a primary immunodeficiency due to an anomaly in either complement components C5, C6, C7, C8 or C9 and is typically characterized by meningitis due to often recurrent meningococcal infections. The prognosis is generally favorable.
ORPHAcode:
169150
Synonyms:
Immunodeficiency due to C5 to C9 component complement deficiency
Terminal complement pathway deficiency
XREF(s):
Orphanet
OMIM
OMIM
OMIM
OMIM
OMIM
ICD-10
OMIM
Analyte(s):
C5
C6
C7
C8A
C8B
C8G
C9
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