Renal dysplasia
Synonyms: Kidney dysplasia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- All ages, Antenatal
- Status
- active
A rare renal malformation in which the kidney(s) are present but their development is abnormal, leading to malformation of histologic architecture of the kidney and presence of embryological tissue such as mesenchymal collarettes or other forms of undifferentiated and metaplastic tissues. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Renal dysplasia | Kidney dysplasia |
| fr | Dysplasie rénale | |
| de | Nierendysplasie | Renale Dysplasie |
| es | Displasia renal | Displasia de riñón |
| it | Displasia renale | |
| nl | Renale dysplasie | Dysplasie van nier · Nierdysplasie |
| pt | Displasia renal | |
| pl | Dysplazja nerek | = en |
| cs | Renální dysplázie | = en |
| uk | Дисплазія нирок | Дисплазія нирок |
| zh | 肾发育不良 | = en |
| tr | Böbrek displazisi | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q61.4 | E | specific | validated |
| ICD-11 | LB30.1 | E | specific | validated |
| MONDO | 0019638 | E | validated | |
| UMLS | C3536714 | E | validated | |
| MedDRA | 10038433 | 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 (2):
- ORPHA:357506Genetic non-syndromic renal or urinary tract malformation
rare genetic diseases - ORPHA:93546Non-syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare renal diseases; rare transplant-related disorders
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| HNF1B | ORPHA:93172Renal dysplasia, unilateral | Disease-causing germline mutation(s) in | Assessed | HGNC:11630 | ENSG00000275410 | 189907 | 17q12 | HNF1 homeobox B | 28566479[PMID] |
| HNF1B | ORPHA:93173Renal dysplasia, bilateral | 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 | 43.5 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies[OTHER]_21381187[PMID] |
| Point prevalence | Unknown | — | Europe | Class only | Not yet validated | 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
28 annotations · validated 2021-10-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012575 | Abnormal nephron morphology | |
| HP:0011130 | Abnormal renal calyx morphology | |
| HP:0000091 | Abnormal renal tubule morphology | |
| HP:0012622 | Chronic kidney disease | |
| HP:0000009 | Functional abnormality of the bladder | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| Occasional (29-5%) | ||
| HP:0031500 | Abdominal mass | |
| HP:0002027 | Abdominal pain | |
| HP:0000105 | Enlarged kidney | |
| HP:0030157 | Flank pain | |
| HP:0000126 | Hydronephrosis | |
| HP:0000072 | Hydroureter | |
| HP:0000822 | Hypertension | |
| HP:0012596 | Moderate proteinuria | |
| HP:0001562 | Oligohydramnios | |
| HP:0031501 | Pelvic mass | |
| HP:0012330 | Pyelonephritis | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0000083 | Renal insufficiency | |
| HP:0004722 | Thickening of the glomerular basement membrane | |
| HP:0012300 | Ureteral agenesis | |
| HP:0005999 | Ureteral atresia | |
| HP:0000070 | Ureterocele | |
| HP:0000020 | Urinary incontinence | |
| HP:0000076 | Vesicoureteral reflux | |
| Very rare (<4-1%) | ||
| HP:0010957 | Congenital posterior urethral valve | |
| HP:0001586 | Vesicovaginal fistula | |
Annotation source: 33894118 [PMID]_25822765[PMID]_25128997[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93108
- This record as JSON: /data/d/93108.json