C3 glomerulonephritis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr: 329931
OMIM Id: 614809
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Non-immunoglobulin-mediated membranoproliferative glomerulonephritis
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
(HPO:0000083) Renal insufficiency 232 / 7739
2
(HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
3
(HPO:0000790) Hematuria 106 / 7739
4
(HPO:0000099) Glomerulonephritis 13 / 7739
5
(OMIM) Glomerular C3 deposits, subendothelial and mesangial 1 / 7739
6
(OMIM) Segmental capillary wall thickening 1 / 7739
7
(OMIM) Mesangial matrix expansion 1 / 7739
8
(OMIM) Increased glomerular cellularity 1 / 7739
9
(HPO:0003676) Progressive disorder 148 / 7739
10
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gale et al. (2010) reported 2 unrelated families with an autosomal dominant form of glomerulonephritis resulting in renal failure. Both families had ancestors from the Troodos mountains of Cyprus. Additional patients of Cypriot origin with a similar disorder ...
Molecular genetics OMIM By linkage analysis followed by candidate gene analysis in 2 families with CFHR5 deficiency and glomerulonephritis with family origins in Cyprus, Gale et al. (2010) identified a heterozygous duplication of exons 2 and 3 of the CFHR5 gene ...