MCID: MLT084
MIFTS: 41

Multicystic Dysplastic Kidney

Categories: Nephrological diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Multicystic Dysplastic Kidney

MalaCards integrated aliases for Multicystic Dysplastic Kidney:

Name: Multicystic Dysplastic Kidney 59 55 73
Multicystic Kidney Dysplasia 29 6
Multicystic Renal Dysplasia 59
Mcdk 59

Classifications:



External Ids:

Orphanet 59 ORPHA1851
UMLS via Orphanet 74 C3714581 C0345335
MESH via Orphanet 45 D021782
ICD10 via Orphanet 34 Q61.4
UMLS 73 C3714581

Summaries for Multicystic Dysplastic Kidney

MalaCards based summary : Multicystic Dysplastic Kidney, also known as multicystic kidney dysplasia, is related to renal dysplasia and polycystic kidney disease. An important gene associated with Multicystic Dysplastic Kidney is PKD2 (Polycystin 2, Transient Receptor Potential Cation Channel), and among its related pathways/superpathways are Cargo trafficking to the periciliary membrane and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. The drugs Ropivacaine and Ibuprofen have been mentioned in the context of this disorder. Affiliated tissues include kidney and uterus, and related phenotypes are cardiovascular system and cellular

Wikipedia : 76 Multicystic dysplastic kidney (MCDK) is a condition that results from the malformation of the kidney... more...

Related Diseases for Multicystic Dysplastic Kidney

Diseases related to Multicystic Dysplastic Kidney via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 renal dysplasia 32.1 PAX2 REN
2 polycystic kidney disease 29.0 PKD1 PKD2
3 autosomal dominant polycystic kidney disease 29.0 PKD1 PKD2 REN
4 kidney disease 28.9 PAX2 PKD1 PKD2 REN
5 chronic kidney failure 28.3 PAX2 PKD1 PKD2 REN
6 unilateral multicystic dysplastic kidney 12.5
7 bilateral multicystic dysplastic kidney 12.5
8 renal dysplasia, cystic 11.8
9 campomelia, cumming type 11.6
10 congenital anomalies of kidney and urinary tract 2 11.3
11 congenital anomalies of kidney and urinary tract 1 11.2
12 renal-hepatic-pancreatic dysplasia 2 11.1
13 renal-hepatic-pancreatic dysplasia 1 11.1
14 ritscher-schinzel syndrome 1 11.1
15 ureteral disease 10.2 PAX2 REN
16 ureterocele 10.1
17 congenital hepatic fibrosis 10.0 PKD1 REN
18 lymphatic malformations 10.0 PKD1 PKD2
19 polycystic kidney disease 3 with or without polycystic liver disease 9.9 PKD1 PKD2
20 polycystic kidney disease 2 with or without polycystic liver disease 9.9 PKD1 PKD2
21 fibromuscular dysplasia 9.9
22 cowden disease 9.9
23 down syndrome 9.9
24 hemangioma 9.9
25 hydronephrosis 9.9
26 waardenburg's syndrome 9.9
27 renal hypodysplasia/aplasia 1 9.9
28 pyelonephritis 9.9
29 cleft lip 9.9
30 waardenburg syndrome, type 1 9.9
31 choroiditis 9.9
32 hydrocele 9.9
33 oligohydramnios 9.9
34 congenital ichthyosiform erythroderma 9.9
35 aortic coarctation 9.9
36 vaginitis 9.9
37 dandy-walker complex 9.9
38 endocardial fibroelastosis 9.9
39 cervicitis 9.9
40 schinzel giedion syndrome 9.9
41 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 9.9
42 kidney cancer 9.9
43 cleft lip/palate 9.9
44 gastroschisis 9.9
45 dermoid cyst 9.9
46 vaginal atresia 9.9
47 pyruvate kinase deficiency of red cells 9.9
48 turner syndrome 9.9
49 lymphocele 9.9
50 valproate embryopathy 9.9

Graphical network of the top 20 diseases related to Multicystic Dysplastic Kidney:



Diseases related to Multicystic Dysplastic Kidney

Symptoms & Phenotypes for Multicystic Dysplastic Kidney

MGI Mouse Phenotypes related to Multicystic Dysplastic Kidney:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.85 AGTR2 LGALS3 PAX2 PKD1 PKD2 REN
2 cellular MP:0005384 9.72 PAX2 PKD1 PKD2 AGTR2 LGALS3
3 mortality/aging MP:0010768 9.63 AGTR2 LGALS3 PAX2 PKD1 PKD2 REN
4 digestive/alimentary MP:0005381 9.56 AGTR2 LGALS3 PKD1 PKD2
5 nervous system MP:0003631 9.35 AGTR2 LGALS3 PAX2 PKD1 REN
6 renal/urinary system MP:0005367 9.1 LGALS3 PAX2 PKD1 PKD2 REN AGTR2

Drugs & Therapeutics for Multicystic Dysplastic Kidney

Drugs for Multicystic Dysplastic Kidney (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ropivacaine Approved Not Applicable 84057-95-4 71273 175805
2
Ibuprofen Approved Not Applicable 15687-27-1 3672
3 Central Nervous System Depressants Not Applicable
4 Anesthetics Not Applicable
5 Anesthetics, Local Not Applicable
6 Peripheral Nervous System Agents Not Applicable
7 Analgesics Not Applicable
8 Cyclooxygenase Inhibitors Not Applicable
9 Analgesics, Non-Narcotic Not Applicable
10 Anti-Inflammatory Agents Not Applicable
11 Anti-Inflammatory Agents, Non-Steroidal Not Applicable
12 Antirheumatic Agents Not Applicable
13 diuretics Not Applicable
14 Natriuretic Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Correlation Between Renal Injury and Biomarkers in Pediatric Ureteropelvic Junction Obstruction Patients Unknown status NCT01711996
2 Ureteropelvic Junction Obstruction in Early Childhood: Comparison of Surgical Therapy and Surveillance. A Prospective, Randomized, Controlled Multi-Center Study Unknown status NCT00444431 Not Applicable
3 The Efficacy and Safety of Local Anesthetic Infusion With Ropivacaine Completed NCT00930046 Not Applicable
4 Dismembered Pyeloplasty With and Without After Coming Stent Completed NCT02138877 Not Applicable
5 Randomized Trial of NSAID vs Placebo Prior to Ureteral Stent Removal Recruiting NCT02140970 Not Applicable Ibuprofen;Placebo
6 Diagnostic Relevance of Laser Confocal Microscopy for the Screening of Upper Urinary Tract Tumors Active, not recruiting NCT02276924 Not Applicable
7 Ambulatory Blood Pressure Measurement in Children With Congenital Urine Flow Obstruction Available NCT00764543
8 CTT on Renogram as an Early Marker of Significant Obstruction in Uretero-pelvic Junction Syndrome Not yet recruiting NCT02812212 Not Applicable
9 Indwelling Double-J Ureteral Stent Versus Externalized Modified-Salle Stent for Pyeloplasty Terminated NCT02713633 Not Applicable

Search NIH Clinical Center for Multicystic Dysplastic Kidney

Genetic Tests for Multicystic Dysplastic Kidney

Genetic tests related to Multicystic Dysplastic Kidney:

# Genetic test Affiliating Genes
1 Multicystic Kidney Dysplasia 29

Anatomical Context for Multicystic Dysplastic Kidney

MalaCards organs/tissues related to Multicystic Dysplastic Kidney:

41
Kidney, Uterus

Publications for Multicystic Dysplastic Kidney

Articles related to Multicystic Dysplastic Kidney:

(show top 50) (show all 83)
# Title Authors Year
1
Predictors of poor neonatal outcomes in prenatally diagnosed multicystic dysplastic kidney disease. ( 29572458 )
2018
2
Applicability of Laparoscopic Nephrectomy in the Treatment of Multicystic Dysplastic Kidney: Sorting Out Surgical Indication. ( 29515943 )
2018
3
Pelvic dystopia of right rudimentary multicystic dysplastic kidney as a rare cause of bedwetting in a patient with aA single pelvic ectopic left kidney, and agenesis of theA uterus and vagina (Mayer-Rokitansky-KA1ster-Hauser syndrome): a case report. ( 29730988 )
2018
4
Clinical Features of Children with Multicystic Dysplastic Kidney. ( 29856512 )
2018
5
A refractory hypertensive patient with fibromuscular dysplasia and multicystic dysplastic kidney. ( 29796733 )
2018
6
Trajectory of Estimated Glomerular Filtration Rate Predicts Renal Injury in Children with Multicystic Dysplastic Kidney. ( 29879710 )
2018
7
Multicystic dysplastic kidney: Assessment of the need for renal scintigraphy and the safety of conservative treatment. ( 27666954 )
2017
8
Early Nephrectomy in Unilateral Multicystic Dysplastic Kidney in Children Cures Hypertension Early: An Observation. ( 28346956 )
2017
9
Cyst-to-kidney volume ratio in the sonographic diagnosis of unilateral multicystic dysplastic kidney in children. ( 28440349 )
2017
10
Multicystic dysplastic kidney: a new association of Wolcott-Rallison syndrome. ( 28955442 )
2017
11
Large Multicystic Dysplastic Kidney Mimicking a Large Cystic Renal Neoplasm. ( 28658845 )
2017
12
Copy number variations in multicystic dysplastic kidney: update for prenatal diagnosis and genetic counseling. ( 26941192 )
2016
13
Minimally invasive open nephrectomy on children with multicystic dysplastic kidney. ( 28101154 )
2016
14
Multicystic dysplastic kidney (MCDK) in the neonate: The role of the urologist. ( 26977201 )
2016
15
Prenatal diagnosis of fetal multicystic dysplastic kidney via high-resolution whole-genome array. ( 26932690 )
2016
16
Re: Multicystic Dysplastic Kidney: Is an Initial Voiding Cystourethrogram Necessary? ( 26853032 )
2016
17
Prenatal diagnosis of bilateral multicystic dysplastic kidney in three siblings. ( 26966031 )
2016
18
Dermoid Cyst in a Multicystic Dysplastic Kidney: A Case Report and Literature Review. ( 26342317 )
2015
19
Conservative Management of Segmental Multicystic Dysplastic Kidney in Children. ( 26277536 )
2015
20
Update on Multicystic Dysplastic Kidney. ( 26255066 )
2015
21
Uterus didelphys with obstructed hemivagina and contralateral multicystic dysplastic kidney. ( 28509270 )
2015
22
Testicular cavernous hemangioma presenting as an ipsilateral lesion in a child with multicystic dysplastic kidney. ( 27735807 )
2015
23
Dyserythropoiesis in a child with pyruvate kinase deficiency and coexistent unilateral multicystic dysplastic kidney. ( 24481986 )
2014
24
Multicystic dysplastic kidney: Impact of imaging modality selection on the initial management and prognosis. ( 24731390 )
2014
25
Single center experience in patients with unilateral multicystic dysplastic kidney. ( 24873872 )
2014
26
Voiding cystourethrogram in multicystic dysplastic kidney: the pendulum has swung. ( 25347380 )
2014
27
The natural history of the multicystic dysplastic kidney - Is limited follow-up warranted? ( 25087179 )
2014
28
Multicystic dysplastic kidney: is an initial voiding cystourethrogram necessary? ( 25347379 )
2014
29
Normal non-atretic ureter in multicystic dysplastic kidney: Report of two cases. ( 24604989 )
2014
30
Multicystic dysplastic kidney: a retrospective study. ( 25128997 )
2014
31
Transcriptional dysregulation in the ureteric bud causes multicystic dysplastic kidney by branching morphogenesis defect. ( 25301096 )
2014
32
Ultrasound diagnosis of multicystic dysplastic kidney: Is a confirmatory nuclear medicine scan necessary? ( 24909606 )
2014
33
Unilateral multicystic dysplastic kidney in children. ( 24827951 )
2014
34
Caudal duplication with multicystic dysplastic kidney: a case report. ( 25304120 )
2014
35
Prenatal diagnosis of multicystic dysplastic kidney disease in the second trimester screening. ( 23584791 )
2013
36
Re: Unilateral multicystic dysplastic kidney: does initial size matter? ( 24120811 )
2013
37
Multicystic dysplastic kidney complicated by pyelonephritis. ( 24349603 )
2013
38
Different phenotypes of HNF1A9 deletion mutants in familial multicystic dysplastic kidneys. ( 23725647 )
2013
39
Ultrasound diagnosis of central nervous system anomalies (bifid choroid plexus, ventriculomegaly, Dandy-Walker malformation) associated with multicystic dysplastic kidney disease in a trisomy 9 fetus: case report with literature review. ( 23055272 )
2013
40
Segmental multicystic dysplastic kidney in an adult: usefulness of enhanced CT in excretory phase. ( 22782317 )
2013
41
Re: Unilateral multicystic dysplastic kidney: does initial size matter? ( 23663641 )
2013
42
Autosomal dominant polycystic kidney disease with ectopic unilateral multicystic dysplastic kidney. ( 23413949 )
2013
43
Cowden disease and multicystic dysplastic kidney: increased risk of renal cancer? ( 26019827 )
2012
44
Unilateral multicystic dysplastic kidney: does initial size matter? ( 22410799 )
2012
45
Single trocar retroperitoneoscopic nephrectomy for unilateral multicystic dysplastic kidney in children. ( 22290528 )
2012
46
Prenatal diagnosis of fetal multicystic dysplastic kidney in the era of three-dimensional ultrasound: 10-year experience. ( 23276564 )
2012
47
Severe fetal valproate syndrome: combination of complex cardiac defect, multicystic dysplastic kidney, and trigonocephaly. ( 21291342 )
2011
48
Long-term risk of chronic kidney disease in unilateral multicystic dysplastic kidney. ( 21240528 )
2011
49
Bilateral congenital midureteric strictures associated with multicystic dysplastic kidney and hydronephrosis: evaluation with MR urography. ( 20714713 )
2011
50
Unilateral multicystic dysplastic kidney with progressive infundibular stenosis in the contralateral kidney: experience at 1 center and review of literature. ( 21784480 )
2011

Variations for Multicystic Dysplastic Kidney

ClinVar genetic disease variations for Multicystic Dysplastic Kidney:

6
(show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 46;Y;inv(X)(p11.2q28)mat inversion Uncertain significance
2 PKD1 NM_000296.3(PKD1): c.3785A> G (p.His1262Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1057518976 GRCh38 Chromosome 16, 2111382: 2111382
3 PKD1 NM_000296.3(PKD1): c.3785A> G (p.His1262Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1057518976 GRCh37 Chromosome 16, 2161383: 2161383
4 PKD2 NM_000297.3(PKD2): c.2284_2287delTACG (p.Tyr762Thrfs) deletion Pathogenic GRCh37 Chromosome 4, 88986957: 88986960
5 PKD2 NM_000297.3(PKD2): c.2284_2287delTACG (p.Tyr762Thrfs) deletion Pathogenic GRCh38 Chromosome 4, 88065805: 88065808
6 PKD1 NM_001009944.2(PKD1): c.5899_5901delGTG (p.Val1967del) deletion Pathogenic GRCh38 Chromosome 16, 2109266: 2109268
7 PKD1 NM_001009944.2(PKD1): c.5899_5901delGTG (p.Val1967del) deletion Pathogenic GRCh37 Chromosome 16, 2159267: 2159269
8 MKS1 NM_017777.3(MKS1): c.1274-3C> T single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 56284582: 56284582
9 MKS1 NM_017777.3(MKS1): c.1274-3C> T single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 58207221: 58207221
10 MKKS NM_018848.3(MKKS): c.958_959delCT (p.Leu320Aspfs) deletion Likely pathogenic GRCh37 Chromosome 20, 10393204: 10393205
11 MKKS NM_018848.3(MKKS): c.958_959delCT (p.Leu320Aspfs) deletion Likely pathogenic GRCh38 Chromosome 20, 10412556: 10412557

Expression for Multicystic Dysplastic Kidney

Search GEO for disease gene expression data for Multicystic Dysplastic Kidney.

Pathways for Multicystic Dysplastic Kidney

GO Terms for Multicystic Dysplastic Kidney

Cellular components related to Multicystic Dysplastic Kidney according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 motile cilium GO:0031514 9.16 PKD1 PKD2
2 ciliary membrane GO:0060170 8.96 PKD1 PKD2
3 polycystin complex GO:0002133 8.62 PKD1 PKD2

Biological processes related to Multicystic Dysplastic Kidney according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 9.65 PKD1 PKD2 REN
2 liver development GO:0001889 9.62 PKD1 PKD2
3 regulation of blood pressure GO:0008217 9.61 AGTR2 REN
4 neural tube development GO:0021915 9.61 PKD1 PKD2
5 branching involved in ureteric bud morphogenesis GO:0001658 9.6 PAX2 PKD2
6 positive regulation of nitric oxide biosynthetic process GO:0045429 9.59 AGTR2 PKD2
7 spinal cord development GO:0021510 9.58 PKD1 PKD2
8 JAK-STAT cascade GO:0007259 9.58 PKD1 PKD2
9 embryonic placenta development GO:0001892 9.57 PKD1 PKD2
10 renal system development GO:0072001 9.56 PKD1 PKD2
11 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.55 AGTR2 PAX2
12 detection of mechanical stimulus GO:0050982 9.54 PKD1 PKD2
13 mesonephros development GO:0001823 9.52 PAX2 REN
14 placenta blood vessel development GO:0060674 9.51 PKD1 PKD2
15 cytoplasmic sequestering of transcription factor GO:0042994 9.49 PKD1 PKD2
16 metanephric mesenchyme development GO:0072075 9.46 PAX2 PKD2
17 mesonephric tubule development GO:0072164 9.43 PKD1 PKD2
18 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.4 PKD1 PKD2
19 metanephric collecting duct development GO:0072205 9.37 PAX2 PKD1
20 mesonephric duct development GO:0072177 9.32 PKD1 PKD2
21 metanephric ascending thin limb development GO:0072218 9.26 PKD1 PKD2
22 renin-angiotensin regulation of aldosterone production GO:0002018 9.16 AGTR2 REN
23 positive regulation of metanephric glomerulus development GO:0072300 8.96 AGTR2 PAX2
24 regulation of metanephros size GO:0035566 8.62 AGTR2 PAX2

Molecular functions related to Multicystic Dysplastic Kidney according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 8.96 PKD1 PKD2
2 calcium channel activity GO:0005262 8.62 PKD1 PKD2

Sources for Multicystic Dysplastic Kidney

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....