ORPHA:97364
Bilateral multicystic dysplastic kidney
Synonyms: Bilateral MCDK · Bilateral multicystic renal dysplasia
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bilateral multicystic dysplastic kidney | Bilateral MCDK · Bilateral multicystic renal dysplasia |
| fr | Dysplasie rénale multikystique bilatérale | MCDK, forme bilatérale |
| de | Nierendysplasie, multizystische, bilaterale Form | Bilaterale multizystische renale Dysplasie · MCDK, bilateral |
| es | Riñón displásico multiquístico bilateral | Displasia renal multiquística bilateral · MCDK bilateral |
| it | Rene displastico multicistico bilaterale | Displasia renale multicistica bilaterale · MCDK bilaterale |
| nl | Bilaterale multicystische dysplastische nier | Bilaterale MCDK · Bilaterale multicystische nierdysplasie · Bilaterale multicystische renale dysplasie |
| pt | Displasia renal, multiquística, bilateral | |
| pl | Obustronna wielotorbielowata nerka dysplastyczna | Obustronna MCDK · Obustronna wielotorbielowata dysplazja nerki |
| cs | Bilaterální multicystická dysplázie ledvin | Bilaterální MCDK · Bilaterální multicystická renální dysplázie |
| uk | Двостороння мультикістозна диспластична нирка | Двосторонній MCDK · Двобічна мультикістозна дисплазія нирок |
| zh | 多囊性双侧肾发育不全 | 双侧多囊肾发育不良 |
| tr | Bilateral multikistik displastik böbrek | Bilateral MCDK · Bilateral multikistik böbrek displazisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q61.4 | NTBT | attributed | validated |
| ICD-11 | LB30.9 | NTBT | index | validated |
| MONDO | 0019982 | E | validated | |
| MeSH | C537373 | E | validated | |
| UMLS | C1840451 | E | validated | |
| GARD | 9517 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:1851Multicystic dysplastic kidney
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
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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 | 20155289[PMID]_23725647[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | 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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/97364
- This record as JSON: /data/d/97364.json