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Atypical hemolytic-uremic syndrome with C3 anomaly

Disease Export to PDF
Name:
Atypical hemolytic-uremic syndrome with C3 anomaly
ORPHAcode:
93575
Synonyms:
Atypical HUS with C3 anomaly
D-HUS with C3 anomaly
Hemolytic-uremic syndrome without diarrhea with C3 anomaly
aHUS with C3 anomaly
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
C3
Created:
Changed:
  • Atypical Hemolytic Uremic Syndrome (aHUS) and Complement disorders (16 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