Renal dysplasia, bilateral
Synonyms: Kidney dysplasia, bilateral
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- All ages
- Status
- active
A form of renal dysplasia (RD), a renal tract malformation, characterized by abnormal or incomplete development of both kidneys. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. Patients may be asymptomatic if the residual kidney function is sufficient. In cases of severe bilateral RD, the risk of renal failure in childhood is high.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Renal dysplasia, bilateral | Kidney dysplasia, bilateral |
| fr | Dysplasie rénale bilatérale | |
| de | Nierendysplasie, bilaterale | Bilaterale renale Dysplasie |
| es | Displasia renal bilateral | Displasia de riñón bilateral |
| it | Displasia renale bilaterale | |
| nl | Renale dysplasie, bilateraal | Bilaterale dysplasie van nier · Nierdysplasie, bilateraal |
| pt | Displasia renal, bilateral | |
| pl | Dysplazja nerki, obustronna | = en |
| cs | Renální/ledvinná dysplázie, oboustranná | = en |
| uk | Дисплазія нирок, двостороння | Дисплазія нирок, двостороння |
| zh | 双侧肾发育不良 | = en |
| tr | Böbrek displazisi, iki taraflı | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q61.4 | NTBT | attributed | validated |
| ICD-11 | LB30.1 | NTBT | index | validated |
| MONDO | 0019645 | E | validated | |
| UMLS | C0431698 | 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:93108Renal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HNF1B | Disease-causing germline mutation(s) in | Assessed | HGNC:11630 | ENSG00000275410 | 189907 | 17q12 | HNF1 homeobox B | 28566479[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only | Validated | [EXPERT] |
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/93173
- This record as JSON: /data/d/93173.json