MCDK
MCID: MLT084
MIFTS: 38

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 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 vesicoureteral reflux 1. An important gene associated with Multicystic Dysplastic Kidney is PKD1 (Polycystin 1, Transient Receptor Potential Channel Interacting), 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, uterus and testis, 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 79)
# Related Disease Score Top Affiliating Genes
1 renal dysplasia 32.2 PAX2 REN
2 vesicoureteral reflux 1 30.2 AGTR2 PAX2 REN
3 kidney disease 30.1 AGTR2 PAX2 PKD1 PKD2 REN
4 autosomal dominant polycystic kidney disease 29.8 PKD1 PKD2 REN
5 polycystic kidney disease 29.8 PKD1 PKD2 REN
6 chronic kidney failure 29.6 PAX2 PKD1 PKD2 REN
7 unilateral multicystic dysplastic kidney 12.6
8 bilateral multicystic dysplastic kidney 12.6
9 renal dysplasia, cystic 12.0
10 congenital anomalies of kidney and urinary tract 2 11.8
11 campomelia, cumming type 11.7
12 congenital anomalies of kidney and urinary tract 1 11.4
13 renal-hepatic-pancreatic dysplasia 1 11.3
14 ritscher-schinzel syndrome 1 11.3
15 renal-hepatic-pancreatic dysplasia 2 11.3
16 renal cell carcinoma, nonpapillary 10.3
17 ureterocele 10.2
18 renal hypodysplasia/aplasia 1 10.2
19 ureteral disease 10.1 PAX2 REN
20 congenital hepatic fibrosis 10.0 PKD1 REN
21 fibromuscular dysplasia 10.0
22 hirschsprung disease 1 10.0
23 down syndrome 10.0
24 waardenburg syndrome, type 1 10.0
25 endocardial fibroelastosis 10.0
26 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.0
27 gastroschisis 10.0
28 pyruvate kinase deficiency of red cells 10.0
29 caudal duplication anomaly 10.0
30 valproate embryopathy 10.0
31 wilms tumor 6 10.0
32 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.0
33 bartter disease 10.0
34 hemangioma 10.0
35 hydronephrosis 10.0
36 pyelonephritis 10.0
37 oligohydramnios 10.0
38 kidney cancer 10.0
39 dermoid cyst 10.0
40 transitional cell carcinoma 10.0
41 turner syndrome 10.0
42 lymphocele 10.0
43 collecting duct carcinoma 10.0
44 cavernous hemangioma 10.0
45 cowden disease 10.0
46 waardenburg's syndrome 10.0
47 cleft lip 10.0
48 hydrocele 10.0
49 aortic coarctation 10.0
50 dandy-walker complex 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 9.85 AGTR2 LGALS3 PAX2 PKD1 PKD2 REN
2 cellular MP:0005384 9.72 AGTR2 LGALS3 PAX2 PKD1 PKD2
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 AGTR2 LGALS3 PAX2 PKD1 PKD2 REN

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 175805 71273
2
Ibuprofen Approved Not Applicable 15687-27-1 3672
3 Anesthetics, Local Not Applicable
4 Anesthetics Not Applicable
5 Peripheral Nervous System Agents Not Applicable
6 Central Nervous System Depressants Not Applicable
7 Analgesics Not Applicable
8 Anti-Inflammatory Agents, Non-Steroidal Not Applicable
9 Analgesics, Non-Narcotic Not Applicable
10 Anti-Inflammatory Agents Not Applicable
11 Antirheumatic Agents Not Applicable
12 Cyclooxygenase Inhibitors Not Applicable
13 Natriuretic Agents Not Applicable
14 diuretics 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 Diagnostic Relevance of Laser Confocal Microscopy for the Screening of Upper Urinary Tract Tumors Unknown status NCT02276924 Not Applicable
4 The Efficacy and Safety of Local Anesthetic Infusion With Ropivacaine Completed NCT00930046 Not Applicable
5 Dismembered Pyeloplasty With and Without After Coming Stent Completed NCT02138877 Not Applicable
6 Randomized Trial of NSAID vs Placebo Prior to Ureteral Stent Removal Recruiting NCT02140970 Not Applicable Ibuprofen;Placebo
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, Testis, Liver

Publications for Multicystic Dysplastic Kidney

Articles related to Multicystic Dysplastic Kidney:

(show top 50) (show all 213)
# 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
Necessity of performing voiding cystourethrography for children with unilateral multicystic dysplastic kidney. ( 30255447 )
2018
8
Magnetic resonance imaging for evaluation of foetal multicystic dysplastic kidney. ( 30396644 )
2018
9
Evidence-based treatment of multicystic dysplastic kidney: a systematic review. ( 30396841 )
2018
10
A meta-analysis of the incidence and fate of contralateral vesicoureteral reflux in unilateral multicystic dysplastic kidney. ( 30482499 )
2018
11
Multicystic dysplastic kidney: Assessment of the need for renal scintigraphy and the safety of conservative treatment. ( 27666954 )
2017
12
Early Nephrectomy in Unilateral Multicystic Dysplastic Kidney in Children Cures Hypertension Early: An Observation. ( 28346956 )
2017
13
Cyst-to-kidney volume ratio in the sonographic diagnosis of unilateral multicystic dysplastic kidney in children. ( 28440349 )
2017
14
Multicystic dysplastic kidney: a new association of Wolcott-Rallison syndrome. ( 28955442 )
2017
15
Large Multicystic Dysplastic Kidney Mimicking a Large Cystic Renal Neoplasm. ( 28658845 )
2017
16
Copy number variations in multicystic dysplastic kidney: update for prenatal diagnosis and genetic counseling. ( 26941192 )
2016
17
Minimally invasive open nephrectomy on children with multicystic dysplastic kidney. ( 28101154 )
2016
18
Multicystic dysplastic kidney (MCDK) in the neonate: The role of the urologist. ( 26977201 )
2016
19
Prenatal diagnosis of fetal multicystic dysplastic kidney via high-resolution whole-genome array. ( 26932690 )
2016
20
Re: Multicystic Dysplastic Kidney: Is an Initial Voiding Cystourethrogram Necessary? ( 26853032 )
2016
21
Prenatal diagnosis of bilateral multicystic dysplastic kidney in three siblings. ( 26966031 )
2016
22
Dermoid Cyst in a Multicystic Dysplastic Kidney: A Case Report and Literature Review. ( 26342317 )
2015
23
Conservative Management of Segmental Multicystic Dysplastic Kidney in Children. ( 26277536 )
2015
24
Update on Multicystic Dysplastic Kidney. ( 26255066 )
2015
25
Uterus didelphys with obstructed hemivagina and contralateral multicystic dysplastic kidney. ( 28509270 )
2015
26
Testicular cavernous hemangioma presenting as an ipsilateral lesion in a child with multicystic dysplastic kidney. ( 27735807 )
2015
27
Caudal duplication with multicystic dysplastic kidney: a case report. ( 25304120 )
2015
28
Dyserythropoiesis in a child with pyruvate kinase deficiency and coexistent unilateral multicystic dysplastic kidney. ( 24481986 )
2014
29
Multicystic dysplastic kidney: Impact of imaging modality selection on the initial management and prognosis. ( 24731390 )
2014
30
Single center experience in patients with unilateral multicystic dysplastic kidney. ( 24873872 )
2014
31
Voiding cystourethrogram in multicystic dysplastic kidney: the pendulum has swung. ( 25347380 )
2014
32
The natural history of the multicystic dysplastic kidney - Is limited follow-up warranted? ( 25087179 )
2014
33
Multicystic dysplastic kidney: is an initial voiding cystourethrogram necessary? ( 25347379 )
2014
34
Normal non-atretic ureter in multicystic dysplastic kidney: Report of two cases. ( 24604989 )
2014
35
Multicystic dysplastic kidney: a retrospective study. ( 25128997 )
2014
36
Transcriptional dysregulation in the ureteric bud causes multicystic dysplastic kidney by branching morphogenesis defect. ( 25301096 )
2014
37
Ultrasound diagnosis of multicystic dysplastic kidney: Is a confirmatory nuclear medicine scan necessary? ( 24909606 )
2014
38
Unilateral multicystic dysplastic kidney in children. ( 24827951 )
2014
39
Prenatal diagnosis and epidemiology of multicystic kidney dysplasia in Europe. ( 24916896 )
2014
40
Prenatal diagnosis of multicystic dysplastic kidney disease in the second trimester screening. ( 23584791 )
2013
41
Re: Unilateral multicystic dysplastic kidney: does initial size matter? ( 24120811 )
2013
42
Multicystic dysplastic kidney complicated by pyelonephritis. ( 24349603 )
2013
43
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
44
Segmental multicystic dysplastic kidney in an adult: usefulness of enhanced CT in excretory phase. ( 22782317 )
2013
45
Re: Unilateral multicystic dysplastic kidney: does initial size matter? ( 23663641 )
2013
46
Autosomal dominant polycystic kidney disease with ectopic unilateral multicystic dysplastic kidney. ( 23413949 )
2013
47
Involution of multicystic dysplastic kidney: is it predictable? ( 22687342 )
2013
48
Antenatal three-dimensional sonographic features of multicystic dysplastic kidney. ( 27277112 )
2013
49
Cowden disease and multicystic dysplastic kidney: increased risk of renal cancer? ( 26019827 )
2012
50
Unilateral multicystic dysplastic kidney: does initial size matter? ( 22410799 )
2012

Variations for Multicystic Dysplastic Kidney

ClinVar genetic disease variations for Multicystic Dysplastic Kidney:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PKD1 NM_000296.3(PKD1): c.3785A> G (p.His1262Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1057518976 GRCh38 Chromosome 16, 2111382: 2111382
2 PKD1 NM_000296.3(PKD1): c.3785A> G (p.His1262Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1057518976 GRCh37 Chromosome 16, 2161383: 2161383
3 PKD2 NM_000297.3(PKD2): c.2284_2287delTACG (p.Tyr762Thrfs) deletion Pathogenic GRCh37 Chromosome 4, 88986957: 88986960
4 PKD2 NM_000297.3(PKD2): c.2284_2287delTACG (p.Tyr762Thrfs) deletion Pathogenic GRCh38 Chromosome 4, 88065805: 88065808
5 PKD1 NM_001009944.2(PKD1): c.5899_5901delGTG (p.Val1967del) deletion Pathogenic GRCh38 Chromosome 16, 2109266: 2109268
6 PKD1 NM_001009944.2(PKD1): c.5899_5901delGTG (p.Val1967del) deletion Pathogenic GRCh37 Chromosome 16, 2159267: 2159269
7 MKS1 NM_017777.3(MKS1): c.1274-3C> T single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 56284582: 56284582
8 MKS1 NM_017777.3(MKS1): c.1274-3C> T single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 58207221: 58207221
9 MKKS NM_018848.3(MKKS): c.958_959delCT (p.Leu320Aspfs) deletion Likely pathogenic GRCh37 Chromosome 20, 10393204: 10393205
10 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 ciliary membrane GO:0060170 8.96 PKD1 PKD2
2 polycystin complex GO:0002133 8.62 PKD1 PKD2

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 9.65 PKD1 PKD2 REN
2 calcium ion transmembrane transport GO:0070588 9.62 PKD1 PKD2
3 liver development GO:0001889 9.62 PKD1 PKD2
4 regulation of blood pressure GO:0008217 9.61 AGTR2 REN
5 neural tube development GO:0021915 9.61 PKD1 PKD2
6 branching involved in ureteric bud morphogenesis GO:0001658 9.6 PAX2 PKD2
7 positive regulation of nitric oxide biosynthetic process GO:0045429 9.59 AGTR2 PKD2
8 spinal cord development GO:0021510 9.58 PKD1 PKD2
9 JAK-STAT cascade GO:0007259 9.58 PKD1 PKD2
10 embryonic placenta development GO:0001892 9.57 PKD1 PKD2
11 renal system development GO:0072001 9.56 PKD1 PKD2
12 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.55 AGTR2 PAX2
13 detection of mechanical stimulus GO:0050982 9.54 PKD1 PKD2
14 mesonephros development GO:0001823 9.52 PAX2 REN
15 placenta blood vessel development GO:0060674 9.51 PKD1 PKD2
16 cytoplasmic sequestering of transcription factor GO:0042994 9.49 PKD1 PKD2
17 metanephric mesenchyme development GO:0072075 9.46 PAX2 PKD2
18 mesonephric tubule development GO:0072164 9.43 PKD1 PKD2
19 metanephric collecting duct development GO:0072205 9.4 PAX2 PKD1
20 obsolete positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle GO:0031659 9.37 PKD1 PKD2
21 mesonephric duct development GO:0072177 9.32 PKD1 PKD2
22 metanephric ascending thin limb development GO:0072218 9.26 PKD1 PKD2
23 renin-angiotensin regulation of aldosterone production GO:0002018 9.16 AGTR2 REN
24 positive regulation of metanephric glomerulus development GO:0072300 8.96 AGTR2 PAX2
25 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
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