Multicystic dysplastic kidney
Synonyms: MCDK · Multicystic renal dysplasia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multicystic dysplastic kidney | MCDK · Multicystic renal dysplasia |
| fr | Dysplasie rénale multikystique | MCDK |
| de | Nierendysplasie, multizystische | MCDK · Multizystische renale Dysplasie · Nierendysplasie, diffuse |
| es | Riñón displásico multiquístico | Displasia renal multiquística · MCDK |
| it | Rene displastico multicistico | Displasia renale multicistica · MCDK |
| nl | Multicystische dysplastische nier | MCDK · Multicystische nierdysplasie |
| pt | Displasia renal quística difusa | Displasia renal difusa, forma autossómica recessiva |
| pl | Nerka dysplastyczna wielotorbielowata | Dysplazja wielotorbielowata nerki · MCDK |
| cs | Multicystická dysplázie ledvin | MCDK · Multicystická renální dysplázie |
| uk | Мультикістозна диспластична нирка | MCDK · Мультикістозна дисплазія нирок |
| zh | 多囊性肾发育不良 | 多囊性肾发育不良 |
| tr | Multikistik displastik böbrek | MCDK · Multikistik böbrek displazisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q61.4 | NTBT | inclusion | validated |
| ICD-11 | LB30.9 | E | specific | validated |
| MONDO | 0015988 | E | validated | |
| MeSH | D021782 | E | validated | |
| UMLS | C3714581 | 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:97363Unilateral multicystic dysplastic kidney | Disease-causing germline mutation(s) in | Assessed | HGNC:11630 | ENSG00000275410 | 189907 | 17q12 | HNF1 homeobox B | 20155289[PMID]_23725647[PMID] |
| HNF1B | ORPHA:97364Bilateral multicystic dysplastic kidney | Disease-causing germline mutation(s) in | Assessed | HGNC:11630 | ENSG00000275410 | 189907 | 17q12 | HNF1 homeobox B | 20155289[PMID]_23725647[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 23.26 / 100 000 | Worldwide | Value and class | Validated | 19171687[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | 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
15 annotations · validated 2023-10-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0002643 | Neonatal respiratory distress | |
| Frequent (79-30%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0031500 | Abdominal mass | |
| HP:0001622 | Premature birth | |
| Occasional (29-5%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0000105 | Enlarged kidney | |
| HP:0001562 | Oligohydramnios | |
| HP:0000122 | Unilateral renal agenesis | |
| HP:0000076 | Vesicoureteral reflux | |
| Very rare (<4-1%) | ||
| HP:0000085 | Horseshoe kidney | |
| HP:0000822 | Hypertension | |
| HP:0000070 | Ureterocele | |
| HP:0000074 | Ureteropelvic junction obstruction | |
| HP:0030735 | Ureterovesical junction obstruction | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 26255066[PMID]_34538561[PMID]_34507790[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1851
- This record as JSON: /data/d/1851.json