Dense deposit disease
Synonyms: Membranoproliferative glomerulonephritis type 2
- Type
- Histopathological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- 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 electron microscopic findings of highly electron-dense intra-membranous, osmiophilic deposits.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dense deposit disease | Membranoproliferative glomerulonephritis type 2 |
| fr | Maladie de dépôt dense | Glomérulonéphrite membranoproliférative type 2 |
| de | Glomerulonephritis, membranoproliferative, Typ 2 | Dense-deposit-Krankheit |
| es | Enfermedad de depósitos densos | Glomerulonefritis membranoproliferativa tipo 2 |
| it | Malattia dei depositi densi | Malattia da depositi densi |
| nl | Dense deposit-ziekte | DDD · Dense deposit disease · Membranoproliferatieve glomerulonefritis type 2 |
| pt | Doença de depósitos densos | Glomerulonefrite membranoproliferativa tipo 2 |
| pl | Choroba gęstych złogów | Błoniasto-rozplemowe zapalenie kłębuszków nerkowych typu 2 |
| cs | Nemoc denzních depozit | Membranoproliferativní glomerulonefritida, typ 2 |
| uk | Хвороба щільних відкладень | Мембранопроліферативний гломерулонефрит 2 типу |
| zh | 致密物沉积病 | 膜性增生性肾小球肾炎2型 |
| tr | Yoğun depozit hastalığı | Membranoproliferatif glomerülonefrit tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609814 | NTBT | validated | |
| OMIM | 614809 | NTBT | validated | |
| ICD-10 | N03.6 | E | specific | validated |
| ICD-11 | GB40 | NTBT | index | validated |
| MONDO | 0019736 | E | validated | |
| UMLS | C0268743 | E | validated | |
| GARD | 8555 | 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.
Genes
3 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 | 22388616[PMID]_20301598[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 | 21566112[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.25 / 100 000 | Worldwide | Value and class | Validated | 20301598[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93571
- This record as JSON: /data/d/93571.json