Renal dysplasia, unilateral
Synonyms: Kidney dysplasia, unilateral
- 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) characterized by abnormal or incomplete development of one kidney. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. Patients may be asymptomatic if the contralateral kidney is functional. Even in cases of severe unilateral RD, i.e. renal aplasia, the risk of renal failure in childhood is minimal; however, patients may develop hypertension, proteinuria and renal failure as adults.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Renal dysplasia, unilateral | Kidney dysplasia, unilateral |
| fr | Dysplasie rénale unilatérale | |
| de | Nierendysplasie, unilaterale | Unilaterale renale Dysplasie |
| es | Displasia renal unilateral | Displasia de riñón unilateral |
| it | Displasia renale monolaterale | |
| nl | Renale dysplasie, unilateraal | Nierdysplasie, unilateraal · Unilaterale dysplasie van nier |
| pt | Displasia renal, unilateral | |
| pl | Dysplazja nerki, jednostronna | = en |
| cs | Renální/Ledvinná dysplázie, jednostranná | = en |
| uk | Дисплазія нирок, одностороння | Дисплазія нирок, одностороння |
| zh | 单侧肾发育不良 | = en |
| tr | Böbrek displazisi, tek 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 | 0019644 | E | validated | |
| UMLS | C0431697 | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | — | Europe | Class only | Validated | EUROCAT European surveillance of congenital anomalies[OTHER]_[EXPERT] |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Validated | EUROCAT European surveillance of congenital anomalies[OTHER]_ORPHANET |
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/93172
- This record as JSON: /data/d/93172.json