ORPHA:97363

Unilateral multicystic dysplastic kidney

Synonyms: Unilateral MCDK · Unilateral multicystic renal dysplasia

Type: Clinical subtype
Group: Subtype of disorder
Inheritance: Autosomal dominant
Age of onset: All ages
Status: active

A rare form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Unilateral multicystic dysplastic kidney	Unilateral MCDK · Unilateral multicystic renal dysplasia
fr	Dysplasie rénale multikystique unilatérale	MCDK, forme unilatérale
de	Nierendysplasie, multizystische, unilaterale Form	MCDK, unilateral · Unilaterale multizystische renale Dysplasie
es	Riñón displásico multiquístico unilateral	Displasia renal multiquística unilateral · MCDK unilateral
it	Rene displastico multicistico unilaterale	Displasia renale multicistica unilaterale · MCDK unilaterale
nl	Unilaterale multicystische dysplastische nier	Unilaterale MCDK · Unilaterale multicystische nierdysplasie · Unilaterale multicystische renale dysplasie
pt	Displasia renal, multiquística, unilateral
pl	Jednostronna wielotorbielowata nerka dysplastyczna	Jednostronna MCDK · Jednostronna wielotorbielowata dysplazja nerki
cs	Unilaterální multicystická dysplázie ledvin	Unilaterální MCDK · Unilaterální multicystická renální dysplázie
uk	Одностороння мультикістозна диспластична нирка	Односторонній MCDK · Однобічна мультикістозна дисплазія нирок
zh	多囊性单侧肾发育不全	单侧多囊肾发育不良
tr	Unilateral multikistik displastik böbrek	Unilateral MCDK · Unilateral multikistik böbrek displazisi

Definition in:

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	0019981	E		validated
UMLS	C1567426	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):

ORPHA:93890Rare developmental defect during embryogenesis

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.

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]

Prevalence and incidence

9 records

Type	Class	Value	Area	Qualification	Validation	Source
Prevalence at birth	1-5 / 10 000	23.2 / 100 000	Worldwide	Value and class	Validated	19171687[PMID]_[EXPERT]
Prevalence at birth	1-5 / 10 000	14.8 / 100 000	Europe	Value and class	Validated	16053904[PMID]_[EXPERT]
Prevalence at birth	1-5 / 10 000	45.4 / 100 000	United Kingdom	Value and class	Validated	18278521[PMID]
Prevalence at birth	1-5 / 10 000	25 / 100 000	Japan	Value and class	Validated	11967035[PMID]
Prevalence at birth	>1 / 1000	108 / 100 000	Saudi Arabia	Value and class	Validated	12415373[PMID]
Prevalence at birth	1-5 / 10 000	24.4 / 100 000	Finland	Value and class	Validated	12532949[PMID]
Prevalence at birth	1-5 / 10 000	41 / 100 000	United States	Value and class	Validated	7776710[PMID]
Prevalence at birth	6-9 / 10 000	60.3 / 100 000	Switzerland	Value and class	Validated	11683078[PMID]
Point prevalence	Unknown	—	Europe	Class only	Validated	ORPHANET_[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/97363
This record as JSON: /data/d/97363.json