C3 glomerulonephritis
- Type
- Histopathological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Status
- active
A histological subtype of C3 glomerulopathy characterized by C3 deposition in renal tissue in the absence or near-absence of immunoglobulin deposits, in a patient with the classic clinical features of glomerulonephritis and the electron microscopic findings of predominant subendothelial, occasionally subepithelial (so-called ''humps''), and intramembranous deposits, but without the typical electron-dense deposits of dense deposit disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | C3 glomerulonephritis | |
| fr | Glomérulonéphrite à dépôts de C3 | |
| de | C3-Glomerulonephritis | |
| es | Glomerulonefritis C3 | |
| it | Glomerulonefrite C3 | |
| nl | C3-glomerulonefritis | |
| pt | Glomerulonefrite C3 | |
| pl | Kłębuszkowe zapalenie nerek C3 | |
| cs | Glomerulonefritida spojená s poklesem C3 | |
| uk | С3 гломерулонефрит | |
| zh | C3肾小球肾炎 | |
| tr | C3 glomerülonefrit |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609814 | NTBT | validated | |
| OMIM | 614809 | NTBT | validated | |
| ICD-10 | N03.5 | NTBT | attributed | validated |
| ICD-11 | MF8Y | NTBT | attributed | validated |
| MONDO | 0013892 | E | validated | |
| UMLS | C4055342 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:329918C3 glomerulopathy
rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:93559C3 deposition glomerulonephritis without proliferation moved to · inactive
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CFH | Disease-causing germline mutation(s) in | Assessed | HGNC:4883 | ENSG00000000971 | 134370 | 1q31.3 | complement factor H | 17018561[PMID] |
| CFHR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4888 | ENSG00000244414 | 134371 | 1q31.3 | complement factor H related 1 | 23728178[PMID] |
| CFHR5 | Disease-causing germline mutation(s) in | Assessed | HGNC:24668 | ENSG00000134389 | 608593 | 1q31.3 | complement factor H related 5 | 20800271[PMID]_22503529[PMID]_23026947[PMID] |
| CFHR2 | Part of a fusion gene in | Assessed | HGNC:4890 | ENSG00000080910 | 600889 | 1q31.3 | complement factor H related 2 | 31980588[PMID] |
| CFHR3 | Part of a fusion gene in | Assessed | HGNC:16980 | ENSG00000116785 | 605336 | 1q31.3 | complement factor H related 3 | 22626820[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/329931
- This record as JSON: /data/d/329931.json