MCDK
MCID: MLT084
MIFTS: 47

Multicystic Dysplastic Kidney (MCDK)

Categories: Fetal diseases, Mental diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Multicystic Dysplastic Kidney

MalaCards integrated aliases for Multicystic Dysplastic Kidney:

Name: Multicystic Dysplastic Kidney 58 53 71 75 33
Multicystic Kidney Dysplasia 28 5
Multicystic Renal Dysplasia 58 33
Multiple Congenital Cysts of Kidney 33
Developmental Multicystic Kidney 33
Mcdk 58

Characteristics:


Prevelance:

1-5/10000 (Worldwide) 58

Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

MESH via Orphanet 44 D021782
ICD10 via Orphanet 32 Q61.4
UMLS via Orphanet 72 C0345335 C3714581
Orphanet 58 ORPHA1851
ICD11 33 1178642763
UMLS 71 C3714581

Summaries for Multicystic Dysplastic Kidney

Orphanet: 58 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.

MalaCards based summary: Multicystic Dysplastic Kidney, also known as multicystic kidney dysplasia, is related to congenital anomalies of kidney and urinary tract 2 and cakut. An important gene associated with Multicystic Dysplastic Kidney is PKD1 (Polycystin 1, Transient Receptor Potential Channel Interacting), and among its related pathways/superpathways are p70S6K Signaling and Bardet-Biedl syndrome. The drugs Pharmaceutical Solutions and Ibuprofen have been mentioned in the context of this disorder. Affiliated tissues include kidney, testis and uterus, and related phenotypes are nervous system and renal/urinary system

Wikipedia: 75 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 235)
# Related Disease Score Top Affiliating Genes
1 congenital anomalies of kidney and urinary tract 2 31.8 REN PAX2 AGTR2
2 cakut 31.5 REN PAX2 AGTR2 AGTR1
3 hydronephrosis 30.7 REN PAX2 AGTR2
4 cystic kidney disease 30.5 REN PKD2 PKD1 PAX2
5 urinary tract obstruction 30.5 REN PAX2 AGTR1
6 vesicoureteral reflux 30.4 REN PAX2 AGTR2 AGTR1 AGT
7 renal artery atheroma 30.3 REN AGTR1
8 polycystic liver disease 1 with or without kidney cysts 30.3 PKD2 PKD1
9 fibromuscular dysplasia 30.2 REN AGTR1 AGT
10 anuria 30.1 REN AGTR1 AGT
11 potter's syndrome 30.1 REN PAX2 AGTR1 AGT
12 polycystic kidney disease 1 with or without polycystic liver disease 30.0 REN PKD2 PKD1
13 oligohydramnios 29.9 REN PKD1 PAX2 AGTR1 AGT
14 polycystic kidney disease 29.7 REN PKD2 PKD1 PAX2 MKKS
15 kidney disease 29.7 REN PKD2 PKD1 PAX2 AGTR2 AGTR1
16 autosomal dominant polycystic kidney disease 29.6 REN PKD2 PKD1 PAX2 AGT
17 nephronophthisis 29.5 PKD2 PKD1 MKKS
18 bardet-biedl syndrome 29.5 PKD2 PKD1 PAX2 MKKS
19 chronic kidney disease 29.3 REN PKD2 PKD1 PAX2 AGTR1 AGT
20 renovascular hypertension 29.3 REN PKD1 AGTR2 AGTR1 AGT
21 meckel syndrome, type 1 29.1 PKD2 PKD1 MKKS
22 unilateral multicystic dysplastic kidney 11.8
23 bilateral multicystic dysplastic kidney 11.6
24 renal dysplasia 11.6
25 renal dysplasia, cystic 11.4
26 congenital anomalies of kidney and urinary tract 1 11.3
27 congenital anomalies of kidney and urinary tract 3 11.2
28 urinary tract infection 10.7
29 renal hypodysplasia/aplasia 1 10.6
30 ureterocele 10.6
31 wilms tumor 1 10.4
32 wilms tumor 5 10.4
33 tubulointerstitial kidney disease, autosomal dominant, 2 10.4
34 renal cell carcinoma, nonpapillary 10.3
35 collecting duct carcinoma 10.3
36 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
37 cryptorchidism, unilateral or bilateral 10.3
38 renal hypoplasia 10.3
39 ureteral obstruction 10.3
40 renal artery disease 10.2 REN AGT
41 malignant renovascular hypertension 10.2 REN AGTR1
42 coarctation of aorta 10.2
43 nephrolithiasis, calcium oxalate 10.2
44 neural tube defects 10.2
45 williams-beuren syndrome 10.2
46 anus, imperforate 10.2
47 neural tube defects, folate-sensitive 10.2
48 renal hypodysplasia/aplasia 3 10.2
49 hypospadias 10.2
50 pyelonephritis 10.2

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.09 AGT AGTR1 AGTR2 FZD3 LGALS3 MKKS
2 renal/urinary system MP:0005367 10.01 AGT AGTR1 AGTR2 LGALS3 PAX2 PKD1
3 homeostasis/metabolism MP:0005376 9.97 AGT AGTR1 AGTR2 FZD3 LGALS3 MKKS
4 growth/size/body region MP:0005378 9.91 AGT AGTR1 AGTR2 FZD3 LGALS3 MKKS
5 adipose tissue MP:0005375 9.85 AGT AGTR1 AGTR2 FZD3 LGALS3 PKD1
6 cardiovascular system MP:0005385 9.81 AGT AGTR1 AGTR2 LGALS3 MKKS PAX2
7 reproductive system MP:0005389 9.5 AGT FZD3 LGALS3 MKKS PAX2 PKD1
8 mortality/aging MP:0010768 9.32 AGT AGTR1 AGTR2 FZD3 LGALS3 MKKS

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 Analgesics
5 Antirheumatic Agents
6 Cyclooxygenase Inhibitors
7 Anti-Inflammatory Agents, Non-Steroidal
8 Analgesics, Non-Narcotic
9 Anti-Inflammatory Agents
10 diuretics
11 Anesthetics, Local
12 Anesthetics

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 Double-blind, Placebo-controlled Randomized Controlled Trial of NSAID Prior to Ureteral Stent Removal in a Pediatric Population Completed NCT02140970 Ibuprofen;Placebo
4 Pediatric Robotic Versus Open Pyeloplasty: A Pilot Randomized Control Study Recruiting NCT04884945
5 Cortical Transit Time on Diuretic Renogram as an Early Marker of Significant Obstruction in Antenatally Detected Uretero-pelvic Junction Syndrome Recruiting NCT02812212
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
9 The Correlation Between Renal Injury and Biomarkers in Pediatric Ureteropelvic Junction Obstruction Patients Withdrawn NCT01711996

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 28

Anatomical Context for Multicystic Dysplastic Kidney

Organs/tissues related to Multicystic Dysplastic Kidney:

MalaCards : Kidney, Testis, Uterus, Liver, Pancreas, Neutrophil, Heart

Publications for Multicystic Dysplastic Kidney

Articles related to Multicystic Dysplastic Kidney:

(show top 50) (show all 692)
# Title Authors PMID Year
1
Implication of genetic variations in congenital obstructive nephropathy. 53 62
16133060 2005
2
Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2. 53 62
16049068 2005
3
Multicystic dysplastic kidney and Kallmann's syndrome: a new association? 53 62
11390716 2001
4
Zinner syndrome in children: clinical presentation, imaging findings, diagnosis, and outcome. 62
35332378 2022
5
OHVIRA (Obstructed Hemivagina and Ipsilateral Renal Anomaly or Herlyn-Werner-Wunderlich syndrome): Is it time for age-specific management? 62
35487798 2022
6
Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD). 62
36362756 2022
7
NEK8-Associated Nephropathies: Do Autosomal Dominant Forms Exist? 62
36215968 2022
8
Presence of Cervical Vertebral Anomalies with Concomitant Non-Communicating Hydrocephalus and Multicystic Kidney in a Female Fetus: Where VACTERL-H Meets MURCS. 62
34689682 2022
9
NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination. 62
35987473 2022
10
Dilemma after termination of pregnancy due to urogenital fetal anomalies: Discrepancy between prenatal ultrasonographic diagnosis and autopsy. 62
34951011 2022
11
Differentiating pediatric cystic nephroma from common renal multicystic lesions: A case report. 62
36308211 2022
12
A case of right hypodysplastic kidney and ectopic ureter associated with bicornuate uterus in a prepubertal girl. 62
36056295 2022
13
Associated Anomalies and Complications of Multicystic Dysplastic Kidney. 62
36136083 2022
14
Prenatal sonographic findings in a cohort of foetuses with a confirmed 22q11.2 microdeletion at a single Chinese Tertiary Centre. 62
35998262 2022
15
Utility of renal scintigraphy in diagnosis of multicystic dysplastic kidney. 62
35246854 2022
16
Concurrent Multicystic Dysplastic Kidney, Posterior Urethral Valves, and Obstructive Ureterocele in a Male Pediatric Patient: A Case Report. 62
35504454 2022
17
Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis. 62
35765027 2022
18
Evaluation of insertion/deletion (I/D) polymorphisms of ACE gene and circulating levels of angiotensin II in congenital anomalies of the kidney and urinary tract. 62
35212925 2022
19
Genetic diagnosis of common fetal renal abnormalities detected on prenatal ultrasound. 62
35478332 2022
20
Factors influencing the development of Multicystic Dysplastic Kidney (MCDK) following urinary tract obstruction in the fetal lamb. 62
35394167 2022
21
Zinner syndrome: a rare diagnosis in infancy. 62
35589266 2022
22
Cystic dysplasia of the rete testis associated with ipsilateral renal agenesis: A case report. 62
35251428 2022
23
Expending the Phenotypic Spectrum of Encephalocraniocutaneous Lipomatosis: About a Prenatal Case With Complete Autopsy. 62
34547955 2022
24
Cytogenomic aberrations in isolated multicystic dysplastic kidney in children. 62
33790410 2022
25
Association of prenatal renal ultrasound abnormalities with pathogenic copy number variants in a large Chinese cohort. 62
34090309 2022
26
Traumatic Kidney in a Patient With Unilateral Renal Cystic Disease. 62
35382616 2022
27
Deciphering the mutation spectrum in south Indian children with congenital anomalies of the kidney and urinary tract. 62
34979951 2022
28
A patient with congenital hypothyroidism due to a PAX8 frameshift variant accompanying a urogenital malformation. 62
36405439 2022
29
Neonatal multicystic dysplastic kidney with mass effect: A systematic review. 62
34538561 2021
30
A New Case of Herlyn-Werner-Wunderlich Syndrome: Uterine Didelphys with Unilateral Cervical Dysgenesis, Vaginal Agenesis, Cervical Distal Ureteral Remnant Fistula, Ureterocele, and Renal Agenesis in a Patient with Contralateral Multicystic Dysplastic Kidney. 62
35054250 2021
31
Outcomes of solitary functioning kidneys-renal agenesis is different than multicystic dysplastic kidney disease. 62
33954810 2021
32
Ultrasound and alternative multimodality imaging of intra-abdominal and pelvic cystic masses in the newborn. 62
34777544 2021
33
A Newborn with Retrovesical Cysts and an Ipsilateral Multicystic Dysplastic Kidney. 62
33819516 2021
34
Multicystic dysplastic kidney. 62
34507790 2021
35
Segmental multicystic dysplastic kidney: Two case reports. 62
34258821 2021
36
Multicystic Dysplastic Kidney: Prenatal Compensatory Renal Growth Pattern. 62
33351224 2021
37
Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric Patients. 62
34899142 2021
38
Comparison between prepubertal and postpubertal patients with obstructed hemivagina and ipsilateral renal anomaly syndrome. 62
34187747 2021
39
Prenatal diagnosis and outcome of unilateral multicystic kidney. 62
33459097 2021
40
Synchronous Development of Hemiscrotal Tissue in the Orthotopic and Ectopic Locations in Association with other Urological Anomalies. 62
34728924 2021
41
Novel CDK10 variants with multicystic dysplastic kidney, left ventricular non-compaction, and a solitary median maxillary central incisor. 62
34114225 2021
42
Renal function in children with a congenital solitary functioning kidney: A systematic review. 62
33752977 2021
43
Reducing Unnecessary Imaging in Children With Multicystic Dysplastic Kidney or Solitary Kidney. 62
34230093 2021
44
Renal growth slope in children with congenital and acquired solitary functioning kidneys. 62
33249815 2021
45
Spontaneous intraperitoneal renal rupture with urinoma formation in the fetus. 62
34094870 2021
46
Sequence variants in the renin-angiotensin system genes are associated with isolated multicystic dysplastic kidney in children. 62
33173183 2021
47
Diagnosis and Management of Renal Cystic Disease of the Newborn: Core Curriculum 2021. 62
33418012 2021
48
Postnatal outcome of prenatally-detected "simple" renal cysts: Are they really simple? 62
33964640 2021
49
Retrospective evaluation of the pediatric multicystic dysplastic kidney patients: experience of two centers from southeastern Turkey 62
33512816 2021
50
Predictors of poor neonatal outcomes in fetuses diagnosed with congenital urinary tract anomalie. 62
33844244 2021

Variations for Multicystic Dysplastic Kidney

ClinVar genetic disease variations for Multicystic Dysplastic Kidney:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PKD2 NM_000297.4(PKD2):c.2284_2287del (p.Tyr762fs) DEL Pathogenic
523354 rs1553927823 GRCh37: 4:88986956-88986959
GRCh38: 4:88065804-88065807
2 PKD1 NM_001009944.3(PKD1):c.5896GTG[1] (p.Val1967del) MICROSAT Pathogenic
523387 rs1555454847 GRCh37: 16:2159267-2159269
GRCh38: 16:2109266-2109268
3 FZD3 NM_017412.4(FZD3):c.1616dup (p.Asp539fs) DUP Likely Pathogenic
632606 rs1563406024 GRCh37: 8:28413316-28413317
GRCh38: 8:28555799-28555800
4 KIF4A NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu) SNV Likely Pathogenic
632604 rs1569234334 GRCh37: X:69549270-69549270
GRCh38: X:70329420-70329420
5 MKKS NM_170784.3(MKKS):c.958_959del (p.Leu320fs) MICROSAT Likely Pathogenic
523524 rs770908659 GRCh37: 20:10393204-10393205
GRCh38: 20:10412556-10412557
6 PKD1 NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) SNV Likely Pathogenic
374206 rs1057518976 GRCh37: 16:2161383-2161383
GRCh38: 16:2111382-2111382
7 EP300 NM_001429.4(EP300):c.1781C>T (p.Thr594Met) SNV Uncertain Significance
977155 rs750740148 GRCh37: 22:41536164-41536164
GRCh38: 22:41140160-41140160
8 MKS1 NM_017777.4(MKS1):c.1274-3C>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

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 9.63 PKD2 PKD1 MKKS
2 cation channel complex GO:0034703 9.26 PKD2 PKD1
3 polycystin complex GO:0002133 8.92 PKD2 PKD1

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

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cytosolic calcium ion concentration GO:0007204 10.13 PKD2 PKD1 AGTR1 AGT
2 regulation of blood pressure GO:0008217 10.1 REN AGTR2 AGT
3 positive regulation of nitric oxide biosynthetic process GO:0045429 9.99 AGT AGTR2 PKD2
4 positive regulation of protein metabolic process GO:0051247 9.98 AGTR1 AGT
5 brain morphogenesis GO:0048854 9.97 PAX2 MKKS
6 embryonic placenta development GO:0001892 9.97 PKD2 PKD1
7 regulation of vasoconstriction GO:0019229 9.97 AGTR1 AGT
8 vasodilation GO:0042311 9.97 MKKS AGTR2 AGT
9 nitric oxide mediated signal transduction GO:0007263 9.96 AGTR2 AGT
10 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.96 AGTR1 AGT
11 low-density lipoprotein particle remodeling GO:0034374 9.96 AGTR1 AGT
12 protein heterotetramerization GO:0051290 9.95 PKD2 PKD1
13 detection of mechanical stimulus GO:0050982 9.95 PKD2 PKD1
14 mesonephros development GO:0001823 9.94 PAX2 REN
15 placenta blood vessel development GO:0060674 9.94 PKD1 PKD2
16 artery smooth muscle contraction GO:0014824 9.93 MKKS AGT
17 metanephric collecting duct development GO:0072205 9.93 PKD1 PAX2
18 angiotensin-activated signaling pathway GO:0038166 9.92 AGTR1 AGTR2
19 cytoplasmic sequestering of transcription factor GO:0042994 9.91 PKD1 PKD2
20 metanephric mesenchyme development GO:0072075 9.91 PAX2 PKD2
21 positive regulation of CoA-transferase activity GO:1905920 9.9 AGT AGTR1
22 positive regulation of NAD(P)H oxidase activity GO:0033864 9.89 AGTR1 AGT
23 mesonephric duct development GO:0072177 9.88 PKD1 PKD2
24 mesonephric tubule development GO:0072164 9.87 PKD2 PKD1
25 metanephric ascending thin limb development GO:0072218 9.86 PKD2 PKD1
26 regulation of renal sodium excretion GO:0035813 9.85 AGTR1 AGT
27 negative regulation of neurotrophin TRK receptor signaling pathway GO:0051387 9.84 AGT AGTR2
28 positive regulation of metanephric glomerulus development GO:0072300 9.78 PAX2 AGTR2
29 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.76 AGT AGTR1
30 maintenance of blood vessel diameter homeostasis by renin-angiotensin GO:0002034 9.76 AGTR1 AGT
31 blood vessel diameter maintenance GO:0097746 9.73 AGT AGTR1 AGTR2
32 cell-cell signaling by wnt GO:0198738 9.71 PKD2 PKD1
33 regulation of metanephros size GO:0035566 9.67 PAX2 AGTR2
34 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.63 PAX2 AGTR2 AGT
35 G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger GO:0007199 9.62 AGTR2 AGT
36 kidney development GO:0001822 9.61 REN PKD2 PKD1 AGTR1 AGT
37 regulation of blood volume by renin-angiotensin GO:0002016 9.43 REN AGT
38 renin-angiotensin regulation of aldosterone production GO:0002018 9.1 REN AGTR1 AGT

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

# Name GO ID Score Top Affiliating Genes
1 Wnt receptor activity GO:0042813 9.26 PKD1 FZD3
2 angiotensin type II receptor activity GO:0004945 8.92 AGTR2 AGTR1

Sources for Multicystic Dysplastic Kidney

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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