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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessGlomerulopathies, C3-; differential diagnosis


Short information

Comprehensive differential diagnostic panel for C3-glomerulopathies comprising 8 or altogether 16 curated genes according to the clinical signs

Number of genes
14 Accredited laboratory test
Examined sequence length
18,4 kb (Core-/Core-canditate-Genes)
28,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
C34992AD, AR
CD461179AD, AR

Informations about the disease

Clinical Comment

C3 glomerulopathies cause proteinuria, hematuria, oliguria, hypoproteinemia, edema and reduced C3 blood levels. In about half of those affected, the kidney disease progresses to end-stage within 10 years. Two main forms of C3 glomerulopathies are distinguished clinically, so-called dense deposition disease and C3 glomerulonephritis, the former occurring earlier in adolescence. The dense deposition form may also be associated with other diseases that only secondarily affect the renal function, such as acquired partial lipodystrophy or retinal drusen, which may progressively cause visual impairment. C3 glomerulopathies affect 1-2/1000 000 people worldwide. Potentially many immune response genes are involved, including particularly those encoding complement system proteins. For example, a specific mutation in the CFHR5 gene causes C3 glomerulopathy on Cyprus. Mutations in the C3 and CFH genes, as well as other complement system-related genes, cause the disease in other populations. Yet, the known mutations are responsible for comparatively few cases of all C3 glomerulopathies; for the most part, the cause remains unknown. The genetic alterations linked to C3 glomerulopathies activate the complement system. Most cases of C3 glomerulopathy occur sporadically, often developing in families with other autoimmune disorders. Therefore, a negative molecular genetic result excludes the clinical diagnosis by no means.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1425/


  • Alias: C3 glomerulopathy (C3, CD46, CFB, CFH, CFHR1, CFHR5, CFI, DGKE, PLG)
  • Alias: Dense-deposit disease; DDD
  • Alias: Non-Ig-mediated membranoproliferative glomerulonephritis
  • Alias: Non-immunoglobulin-mediated membranoproliferative glomerulonephritis
  • Allelic: Basal laminar drusen (CFH)
  • Allelic: C3 deficiency (C3)
  • Allelic: Complement factor B deficiency (CFB)
  • Allelic: Complement factor H deficiency (CFH)
  • Allelic: Fish-eye disease (LCAT)
  • Allelic: Macular degeneration, age-related, 14, reduced risk of (CFB)
  • Allelic: Macular degeneration, age-related, 4 (CFH)
  • Allelic: Macular degeneration, age-related, 9 (C3)
  • Allelic: Macular degeneration, age-related, reduced risk of (CFHR1, CFHR2, CFHR3, CFHR4)
  • Allelic: Macular degeneration, age-related, reduced risk of (CFHR3)
  • Allelic: Thrombophilia due to thrombomodulin defect (THBD)
  • Angioedema, hereditary, 4 (PLG)
  • C3 glomerulopathy (CFHR2, CFI)
  • Complement factor D deficiency (CFD)
  • Dysplasminogenemia (PLG)
  • Hemolytic uremic syndrome, atypical, susceptibility to (CFHR1, CFHR2, CFHR3, CFHR4)
  • Hemolytic uremic syndrome, atypical, susceptibility to, 1 (CFH)
  • Hemolytic uremic syndrome, atypical, susceptibility to, 2 (CD46)
  • Hemolytic uremic syndrome, atypical, susceptibility to, 3 (CFI)
  • Hemolytic uremic syndrome, atypical, susceptibility to, 4 (CFB)
  • Hemolytic uremic syndrome, atypical, susceptibility to, 5 (C3)
  • Hemolytic uremic syndrome, atypical, susceptibility to, 6 (THBD)
  • Hemolytic uremic syndrome, atypical, susceptibility to, 7 (DGKE)
  • Immune-complex-mediated MPGN (CFHR2, CFI)
  • Methylmalonic aciduria and homocystinuria, cblC type (MMACHC)
  • Nephropathy due to CFHR5 deficiency (CFHR5)
  • Nephrotic syndrome, type 7 (DGKE)
  • Norum disease (LCAT)
  • Plasminogen deficiency, type I (PLG)
  • Thrombotic thrombocytopenic purpura, hereditary (ADAMTS13)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

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