MCDK
MCID: MLT084
MIFTS: 41

Multicystic Dysplastic Kidney (MCDK)

Categories: Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Multicystic Dysplastic Kidney

MalaCards integrated aliases for Multicystic Dysplastic Kidney:

Name: Multicystic Dysplastic Kidney 58 54 70
Multicystic Kidney Dysplasia 29 6
Multicystic Renal Dysplasia 58
Mcdk 58

Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 45 D021782
ICD10 via Orphanet 33 Q61.4
UMLS via Orphanet 71 C0345335 C3714581
Orphanet 58 ORPHA1851
UMLS 70 C3714581

Summaries for Multicystic Dysplastic Kidney

MalaCards based summary : Multicystic Dysplastic Kidney, also known as multicystic kidney dysplasia, is related to renal dysplasia and congenital anomalies of kidney and urinary tract 2. An important gene associated with Multicystic Dysplastic Kidney is PKD1 (Polycystin 1, Transient Receptor Potential Channel Interacting), and among its related pathways/superpathways is Cargo trafficking to the periciliary membrane. The drugs Pharmaceutical Solutions and Ibuprofen have been mentioned in the context of this disorder. Affiliated tissues include kidney, uterus and testis, and related phenotypes are cardiovascular system and mortality/aging

Wikipedia : 73 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 163)
# Related Disease Score Top Affiliating Genes
1 renal dysplasia 32.2 REN PKD1 PAX2
2 congenital anomalies of kidney and urinary tract 2 31.8 REN PAX2 AGTR2
3 cakut 31.5 REN PAX2 AGTR2
4 vesicoureteral reflux 1 30.8 REN PAX2 AGTR2
5 hydronephrosis 30.6 REN PAX2 AGTR2
6 cystic kidney disease 30.5 PKD2 PKD1 PAX2
7 renal hypodysplasia/aplasia 1 30.3 REN PAX2 AGTR2
8 polycystic liver disease 1 with or without kidney cysts 30.3 PKD2 PKD1
9 oligohydramnios 30.3 REN PAX2
10 renovascular hypertension 30.2 REN PKD1
11 autosomal dominant polycystic kidney disease 29.9 REN PKD2 PKD1
12 urinary tract obstruction 29.8 REN PAX2
13 polycystic kidney disease 1 with or without polycystic liver disease 29.7 REN PKD2 PKD1 PAX2
14 polycystic kidney disease 29.7 REN PKD2 PKD1 MKKS
15 kidney disease 29.7 REN PKD2 PKD1 PAX2 AGTR2
16 bardet-biedl syndrome 29.5 PKD2 PKD1 PAX2 MKKS
17 unilateral multicystic dysplastic kidney 11.6
18 renal dysplasia, cystic 11.5
19 bilateral multicystic dysplastic kidney 11.4
20 congenital anomalies of kidney and urinary tract 1 11.3
21 ritscher-schinzel syndrome 1 11.2
22 congenital anomalies of kidney and urinary tract 3 11.2
23 urinary tract infection 10.7
24 ureterocele 10.5
25 proteinuria, chronic benign 10.5
26 acute cystitis 10.5
27 autosomal dominant tubulointerstitial kidney disease 10.4
28 renal cell carcinoma, nonpapillary 10.3
29 renal hypoplasia 10.3
30 potter's syndrome 10.2 REN PAX2
31 coarctation of aorta 10.2
32 neural tube defects 10.2
33 williams-beuren syndrome 10.2
34 hypospadias 10.2
35 pyelonephritis 10.2
36 heart septal defect 10.2
37 turner syndrome 10.2
38 bartter disease 10.2
39 ureteral obstruction 10.2
40 chronic kidney disease 10.2
41 polyhydramnios 10.2
42 48,xyyy 10.2
43 horseshoe kidney 10.2
44 tubulointerstitial kidney disease, autosomal dominant, 1 10.2 REN PAX2
45 ureteral disease 10.1 REN PAX2
46 caroli disease 10.1 PKD2 PKD1
47 hnf1b-related autosomal dominant tubulointerstitial kidney disease 10.1
48 polycystic kidney disease 2 with or without polycystic liver disease 10.0 PKD2 PKD1
49 cerebral arterial disease 10.0 PKD2 PKD1
50 cleft palate, isolated 10.0

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 9.95 AGTR2 LGALS3 MKKS PAX2 PKD1 PKD2
2 mortality/aging MP:0010768 9.92 AGTR2 FZD3 LGALS3 MKKS PAX2 PKD1
3 cellular MP:0005384 9.91 AGTR2 FZD3 LGALS3 MKKS PAX2 PKD1
4 nervous system MP:0003631 9.8 AGTR2 FZD3 LGALS3 MKKS PAX2 PKD1
5 renal/urinary system MP:0005367 9.63 AGTR2 LGALS3 PAX2 PKD1 PKD2 REN
6 reproductive system MP:0005389 9.43 FZD3 LGALS3 MKKS PAX2 PKD1 REN
7 respiratory system MP:0005388 9.02 FZD3 LGALS3 MKKS PKD1 PKD2

Drugs & Therapeutics for Multicystic Dysplastic Kidney

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 1
2
Ibuprofen Approved 15687-27-1 3672
3
Ropivacaine Approved 84057-95-4 71273 175805
4 diuretics
5 Analgesics, Non-Narcotic
6 Analgesics
7 Antirheumatic Agents
8 Cyclooxygenase Inhibitors
9 Anti-Inflammatory Agents
10 Anti-Inflammatory Agents, Non-Steroidal
11 Anesthetics
12 Anesthetics, Local

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Renal Anhydramnios Fetal Therapy (RAFT) Trial Recruiting NCT03101891 Phase 1 Isotonic fluid
2 Ureteropelvic Junction Obstruction in Early Childhood: Comparison of Surgical Therapy and Surveillance in Children With Scintigraphically Prooved Obstruction. A Prospective, Randomized, Controlled Multi-Center Study Unknown status NCT00444431
3 Cortical Transit Time on Diuretic Renogram as an Early Marker of Significant Obstruction in Antenatally Detected Uretero-pelvic Junction Syndrome Unknown status NCT02812212
4 The Correlation Between Renal Injury and Biomarkers in Pediatric Ureteropelvic Junction Obstruction Patients Unknown status NCT01711996
5 Double-blind, Placebo-controlled Randomized Controlled Trial of NSAID Prior to Ureteral Stent Removal in a Pediatric Population Recruiting NCT02140970 Ibuprofen;Placebo
6 Ambulatory Blood Pressure Measurement in Children With Congenital Urine Flow Obstruction No longer available NCT00764543
7 Prospective Randomized Trial of Indwelling Double-J Ureteral Stent Versus Externalized Modified-Salle Stent for Pyeloplasty Terminated NCT02713633
8 The Efficacy and Safety of Local Anesthetic Infusion With Ropivacaine for the Management of Pain After Surgical Correction of Ureteropelvic Junction Stenosis Terminated NCT00930046

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:

40
Kidney, Uterus, Testis, Neutrophil

Publications for Multicystic Dysplastic Kidney

Articles related to Multicystic Dysplastic Kidney:

(show top 50) (show all 537)
# Title Authors PMID Year
1
Implication of genetic variations in congenital obstructive nephropathy. 54 61
16133060 2005
2
Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2. 61 54
16049068 2005
3
Multicystic dysplastic kidney and Kallmann's syndrome: a new association? 61 54
11390716 2001
4
Seminal Vesicle Cysts With Upper Urinary Tract Abnormalities: A Single-center Case Series of Pediatric Zinner Syndrome. 61
32991910 2021
5
Renal function in children with a congenital solitary functioning kidney: A systematic review. 61
33752977 2021
6
Cytogenomic aberrations in isolated multicystic dysplastic kidney in children. 61
33790410 2021
7
Multicystic Dysplastic Kidney With Mass Effect in a Neonate Treated With Nephrectomy: Case Report. 61
33309706 2021
8
Pathophysiological clinical features of an infant with hypertension secondary to multicystic dysplastic kidney: a case report. 61
33546619 2021
9
Screening of renal anomalies in first-degree relatives of children diagnosed with non-syndromic congenital anomalies of kidney and urinary tract. 61
33025232 2021
10
Renal cystic diseases during the perinatal and neonatal period. 61
32986687 2021
11
Retrospective evaluation of the pediatric multicystic dysplastic kidney patients: Experience of two centers from southeastern of Turkey. 61
33512816 2021
12
Prenatal diagnosis and outcome of unilateral multicystic kidney. 61
33459097 2021
13
Pre-pregnancy obesity and risk of congenital abnormalities of the kidney and urinary tract (CAKUT)-systematic review, meta-analysis and ecological study. 61
32596798 2021
14
Multicystic Dysplastic Kidney: Prenatal Compensatory Renal Growth Pattern. 61
33351224 2020
15
Imaging of fetal cystic kidney disease: multicystic dysplastic kidney versus renal cystic dysplasia. 61
33252759 2020
16
Sequence variants in the renin-angiotensin system genes are associated with isolated multicystic dysplastic kidney in children. 61
33173183 2020
17
Retrospective study of the renal function using estimated glomerular filtration rate and congenital anomalies of the kidney-urinary tract in pediatric Turner syndrome. 61
32638418 2020
18
Multicystic dysplastic kidney - treat each case on its merits. 61
31987520 2020
19
[Kidney Cysts and Cystic Nephropathies in Children - A Consensus Guideline by 10 German Medical Societies]. 61
32659844 2020
20
Whole-exome sequencing in the evaluation of fetal congenital anomalies of the kidney and urinary tract detected by ultrasonography. 61
32436246 2020
21
Renal growth slope in children with congenital and acquired solitary functioning kidneys. 61
33249815 2020
22
Expansion of Human iPSC-Derived Ureteric Bud Organoids with Repeated Branching Potential. 61
32726627 2020
23
Urine hepcidin, netrin-1, neutrophil gelatinase-associated lipocalin and C-C motif chemokine ligand 2 levels in multicystic dysplastic kidney. 61
32818222 2020
24
Voiding Cystourethrogram in Children With Unilateral Multicystic Dysplastic Kidney: Is It Still necessary? 61
32081673 2020
25
Re: A Meta-Analysis of the Incidence and Fate of Contralateral Vesicoureteral Reflux in Unilateral Multicystic Dysplastic Kidney. 61
31710541 2020
26
Diagnosis, management, and outcome of obstructed hemivagina and ipsilateral renal agenesis (OHVIRA syndrome): Is there a correlation between MRI findings and outcome? 61
31821975 2020
27
Re: Evidence-Based Treatment of Multicystic Dysplastic Kidney: A Systematic Review. 61
31710530 2020
28
"Watch and Wait" Strategy for Multicystic Dysplastic Kidney (MCDK): Status Survey of Perceptions, Attitudes, and Treatment Selection in Chinese Pediatric Urologists and Pediatric Surgeons. 61
32850538 2020
29
High Activation of the AKT Pathway in Human Multicystic Renal Dysplasia. 61
32927453 2020
30
Clinical characteristics of children with congenital anomalies of the kidney and urinary tract and predictive factors of chronic kidney disease. 61
33108076 2020
31
Multiple Congenital Anomalies in a Patient with Interstitial 6q26 Deletion. 61
32021599 2020
32
Rare cases of ectopic ureter: Analysis from a single centre with review of the literature. 61
30475701 2019
33
Towards adulthood with a solitary kidney. 61
30276534 2019
34
Diagnosis of Fetal Multicystic Dysplastic Kidney in the First Trimester of Pregnancy by 2-D and 3-D Ultrasonography. 61
30772322 2019
35
The efficacy of unilateral laparoscopic nephrectomy in the pediatric hypertensive patient. 61
31331808 2019
36
Introduction to the special issue: "Focus on pediatric nephrology". 61
31630705 2019
37
Clinical course of a pediatric series of multicystic dysplastic kidney. 61
31630710 2019
38
Trends in surgical management of multicystic dysplastic kidney at USA children's hospitals. 61
31130502 2019
39
Unique association of multiple endocrine neoplasia 2A and congenital anomalies of the kidney and urinary tract in a child with a RET mutation. 61
31471357 2019
40
Association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations: an analysis of 66 patients at a single institution. 61
30937553 2019
41
Clinical Spectrum of Congenital Anomalies of Kidney and Urinary Tract in Children. 61
31333211 2019
42
The Incidence and Durability of Compensatory Hypertrophy in Pediatric Patients with Solitary Kidneys. 61
30986483 2019
43
Response to the letter to the editor re 'Evidence-based treatment of multicystic dysplastic kidney: A systematic review'. 61
30987866 2019
44
Correspondence regarding the systematic review entitled 'Evidence-based treatment of multicystic dysplastic kidney: a systematic review'. 61
30962010 2019
45
Knowledge of vesicoureteral reflux obtained by screening voiding cystourethrogram in children with multicystic dysplastic kidney does not change patient management or prevent febrile urinary tract infection. 61
30992197 2019
46
Renal cyst evolution in childhood: a contemporary observational study. 61
30808538 2019
47
Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome. 61
30582277 2019
48
Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement. 61
30599104 2019
49
A clinical predictive model of renal injury in children with congenital solitary functioning kidney. 61
30324507 2019
50
Tubulocystic anomalies of the mesonephric duct associated with ipsilateral renal dysgenesis. 61
30446299 2019

Variations for Multicystic Dysplastic Kidney

ClinVar genetic disease variations for Multicystic Dysplastic Kidney:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PKD2 NM_000297.4(PKD2):c.2284_2287del (p.Tyr762fs) Deletion Pathogenic 523354 rs1553927823 GRCh37: 4:88986956-88986959
GRCh38: 4:88065804-88065807
2 PKD1 NM_001009944.3(PKD1):c.5896_5898GTG[1] (p.Val1967del) Microsatellite Pathogenic 523387 rs1555454847 GRCh37: 16:2159267-2159269
GRCh38: 16:2109266-2109268
3 KIF4A NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu) SNV Likely pathogenic 632604 rs1569234334 GRCh37: X:69549270-69549270
GRCh38: X:70329420-70329420
4 PKD1 NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) SNV Likely pathogenic 374206 rs1057518976 GRCh37: 16:2161383-2161383
GRCh38: 16:2111382-2111382
5 FZD3 NM_017412.4(FZD3):c.1616dup (p.Asp539fs) Duplication Likely pathogenic 632606 rs1563406024 GRCh37: 8:28413316-28413317
GRCh38: 8:28555799-28555800
6 MKKS NM_170784.2(MKKS):c.956_957CT[1] (p.Leu320fs) Microsatellite Likely pathogenic 523524 rs770908659 GRCh37: 20:10393204-10393205
GRCh38: 20:10412556-10412557
7 EP300 NM_001429.4(EP300):c.1781C>T (p.Thr594Met) SNV Uncertain significance 977155 GRCh37: 22:41536164-41536164
GRCh38: 22:41140160-41140160
8 MKS1 NM_001165927.1(MKS1):c.1244-3C>T SNV Uncertain significance 523520 rs1555597344 GRCh37: 17:56284582-56284582
GRCh38: 17:58207221-58207221

Expression for Multicystic Dysplastic Kidney

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

Pathways for Multicystic Dysplastic Kidney

Pathways related to Multicystic Dysplastic Kidney according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.83 PKD2 PKD1 MKKS

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 9.33 PKD2 PKD1 MKKS
2 lateral plasma membrane GO:0016328 9.32 PKD1 FZD3
3 ciliary membrane GO:0060170 9.26 PKD2 PKD1
4 cation channel complex GO:0034703 8.96 PKD2 PKD1
5 polycystin complex GO:0002133 8.62 PKD2 PKD1

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.78 PKD2 PKD1 MKKS
2 Wnt signaling pathway GO:0016055 9.77 PKD2 PKD1 FZD3
3 regulation of blood pressure GO:0008217 9.64 REN AGTR2
4 heart looping GO:0001947 9.63 PKD2 MKKS
5 inner ear morphogenesis GO:0042472 9.63 PAX2 FZD3
6 positive regulation of nitric oxide biosynthetic process GO:0045429 9.62 PKD2 AGTR2
7 neural tube development GO:0021915 9.62 PKD2 PKD1
8 branching involved in ureteric bud morphogenesis GO:0001658 9.61 PKD2 PAX2
9 spinal cord development GO:0021510 9.6 PKD2 PKD1
10 JAK-STAT cascade GO:0007259 9.58 PKD2 PKD1
11 positive regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045737 9.58 PKD2 PKD1
12 vasodilation GO:0042311 9.57 MKKS AGTR2
13 brain morphogenesis GO:0048854 9.56 PAX2 MKKS
14 embryonic placenta development GO:0001892 9.55 PKD2 PKD1
15 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.54 PAX2 AGTR2
16 protein heterotetramerization GO:0051290 9.52 PKD2 PKD1
17 placenta blood vessel development GO:0060674 9.51 PKD2 PKD1
18 detection of mechanical stimulus GO:0050982 9.49 PKD2 PKD1
19 mesonephros development GO:0001823 9.48 REN PAX2
20 metanephric collecting duct development GO:0072205 9.46 PKD1 PAX2
21 cytoplasmic sequestering of transcription factor GO:0042994 9.43 PKD2 PKD1
22 metanephric mesenchyme development GO:0072075 9.4 PKD2 PAX2
23 mesonephric tubule development GO:0072164 9.37 PKD2 PKD1
24 metanephric ascending thin limb development GO:0072218 9.32 PKD2 PKD1
25 mesonephric duct development GO:0072177 9.26 PKD2 PKD1
26 renin-angiotensin regulation of aldosterone production GO:0002018 9.16 REN AGTR2
27 cell-cell signaling by wnt GO:0198738 8.96 PKD2 PKD1
28 kidney development GO:0001822 8.92 REN PKD2 PKD1 AGTR2

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

# Name GO ID Score Top Affiliating Genes
1 cation channel activity GO:0005261 8.96 PKD2 PKD1
2 Wnt-activated receptor activity GO:0042813 8.62 PKD1 FZD3

Sources for Multicystic Dysplastic Kidney

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....