MCID: RNL078
MIFTS: 43

Renal Dysplasia

Categories: Fetal diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Renal Dysplasia

MalaCards integrated aliases for Renal Dysplasia:

Name: Renal Dysplasia 58 28 53 5 75 31 33
Congenital Renal Dysplasia 33
Renal Cell Dysplasia 71
Dysplasia of Kidney 33
Dysplastic Kidney 33
Kidney Dysplasia 58

Characteristics:


Inheritance:

Autosomal dominant 58

Prevelance:

1-5/10000 (Europe) 58

Age Of Onset:

All ages,Antenatal 58

Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


Summaries for Renal Dysplasia

Orphanet: 58 A rare renal malformation in which the kidney(s) are present but their development is abnormal, leading to malformation of histologic architecture of the kidney and presence of embryological tissue such as mesenchymal collarettes or other forms of undifferentiated and metaplastic tissues. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity.

MalaCards based summary: Renal Dysplasia, also known as congenital renal dysplasia, is related to renal dysplasia, cystic and cakut. An important gene associated with Renal Dysplasia is GATA3 (GATA Binding Protein 3). 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 renal hypoplasia/aplasia and abnormal renal tubule morphology

Wikipedia: 75 Multicystic dysplastic kidney (MCDK) is a condition that results from the malformation of the kidney... more...

Related Diseases for Renal Dysplasia

Diseases related to Renal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 456)
# Related Disease Score Top Affiliating Genes
1 renal dysplasia, cystic 31.8 WNT9B LRRC37A2
2 cakut 29.4 WNT9B GATA3 CDC5L
3 renal hypoplasia 29.1 WNT9B LRRC37A2
4 renal dysplasia-limb defects syndrome 11.7
5 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 11.6
6 torticollis, keloids, cryptorchidism, and renal dysplasia 11.6
7 hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome 11.5
8 ifap syndrome 1, with or without bresheck syndrome 11.5
9 congenital anomalies of kidney and urinary tract 2 11.5
10 senior-loken syndrome 1 11.4
11 short-rib thoracic dysplasia 9 with or without polydactyly 11.4
12 multicystic dysplastic kidney 11.3
13 renal dysplasia, unilateral 11.3
14 renal dysplasia, bilateral 11.3
15 bilateral multicystic dysplastic kidney 11.2
16 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 11.2
17 situs inversus totalis with cystic dysplasia of kidneys and pancreas 11.2
18 renal-hepatic-pancreatic dysplasia 11.1
19 renal hypodysplasia/aplasia 1 11.1
20 unilateral multicystic dysplastic kidney 11.1
21 say syndrome 11.1
22 renal hypodysplasia/aplasia 2 11.1
23 congenital anomalies of kidney and urinary tract 1 11.1
24 acrocephalopolydactylous dysplasia 11.0
25 meckel syndrome, type 7 11.0
26 corpus callosum, agenesis of, with abnormal genitalia 11.0
27 bifid nose with or without anorectal and renal anomalies 11.0
28 branchiootorenal syndrome 1 11.0
29 prune belly syndrome 11.0
30 selig benacerraf greene syndrome 11.0
31 brachymesomelia-renal syndrome 11.0
32 branchiootorenal syndrome 2 11.0
33 fraser jequier chen syndrome 11.0
34 perlman syndrome 10.9
35 branchiootorenal syndrome 10.9
36 nail-patella syndrome 10.9
37 vater/vacterl association 10.9
38 bardet-biedl syndrome 10 10.9
39 thauvin-robinet-faivre syndrome 10.9
40 coenzyme q10 deficiency, primary, 8 10.9
41 congenital anomalies of kidney and urinary tract 3 10.9
42 alagille syndrome 1 10.9
43 pallister-hall syndrome 10.9
44 fanconi anemia, complementation group b 10.9
45 larsen-like syndrome 10.9
46 culler-jones syndrome 10.9
47 hypoparathyroidism 10.5
48 hypoparathyroidism-deafness-renal disease syndrome 10.4
49 urinary tract obstruction 10.4
50 sensorineural hearing loss 10.4

Graphical network of the top 20 diseases related to Renal Dysplasia:



Diseases related to Renal Dysplasia

Symptoms & Phenotypes for Renal Dysplasia

Human phenotypes related to Renal Dysplasia:

58 30 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal hypoplasia/aplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0008678
2 abnormal renal tubule morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0000091
3 multicystic kidney dysplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000003
4 chronic kidney disease 58 30 Frequent (33%) Frequent (79-30%)
HP:0012622
5 abnormal renal calyx morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0011130
6 hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000822
7 abdominal pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002027
8 vesicoureteral reflux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000076
9 hydronephrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000126
10 recurrent urinary tract infections 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000010
11 enlarged kidney 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000105
12 hydroureter 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000072
13 oligohydramnios 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001562
14 ureteral atresia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005999
15 pyelonephritis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012330
16 ureterocele 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000070
17 urinary incontinence 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000020
18 pelvic mass 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031501
19 ureteral agenesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012300
20 abdominal mass 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0031500
21 flank pain 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030157
22 moderate proteinuria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012596
23 thickened glomerular basement membrane 30 Occasional (7.5%) HP:0004722
24 congenital posterior urethral valve 58 30 Very rare (1%) Very rare (<4-1%)
HP:0010957
25 vesicovaginal fistula 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001586
26 renal insufficiency 58 Occasional (29-5%)
27 functional abnormality of the bladder 58 Frequent (79-30%)
28 abnormal nephron morphology 58 Frequent (79-30%)
29 thickening of the glomerular basement membrane 58 Occasional (29-5%)

Drugs & Therapeutics for Renal Dysplasia

Drugs for Renal Dysplasia (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 Renal Dysplasia

Genetic Tests for Renal Dysplasia

Genetic tests related to Renal Dysplasia:

# Genetic test Affiliating Genes
1 Renal Dysplasia 28

Anatomical Context for Renal Dysplasia

Organs/tissues related to Renal Dysplasia:

MalaCards : Kidney, Testis, Uterus, Lymph Node, Liver, Salivary Gland, Lung

Publications for Renal Dysplasia

Articles related to Renal Dysplasia:

(show top 50) (show all 2002)
# Title Authors PMID Year
1
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia. 5
34145744 2021
2
HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication. 53 62
19659764 2009
3
HDR syndrome: a novel "de novo" mutation in GATA3 gene. 53 62
19248180 2009
4
10p12.1 deletion: HDR phenotype without DGS2 features. 53 62
19022243 2009
5
An unusual association of contralateral congenital small kidney, reduced renal function and hyperparathyroidism in sponge kidney patients: on the track of the molecular basis. 53 62
15814540 2005
6
Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome. 53 62
15705923 2005
7
Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney development. 53 62
12874457 2003
8
Glial cell line derived neurotrophic factor is expressed by epithelia of human renal dysplasia. 53 62
12441997 2002
9
Lack of aberrations of the BMP4, BMP2, and PTX1 genes in a patient with pituitary hypoplasia, os odontoideum, renal dysplasia, and right leg anomalies. 53 62
12165803 2002
10
Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus. 53 62
11317673 2001
11
Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene. 53 62
10654325 2000
12
Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330). 53 62
9760197 1998
13
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. 53 62
9590287 1998
14
Neurturin, a novel neurotrophic factor, is localized to mouse chromosome 17 and human chromosome 19p13.3. 53 62
9286710 1997
15
Zinner's syndrome: Masquerading as pyonephrotic ectopic kidney. 62
36340236 2023
16
Zinner syndrome in children: clinical presentation, imaging findings, diagnosis, and outcome. 62
35332378 2022
17
Ultrasound and molecular prenatal diagnosis of Beckwith-Wiedemann syndrome: Two case reports. 62
36281281 2022
18
Hypertension crisis as the first symptom of renovascular hypertension in children. 62
36461036 2022
19
TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome. 62
36161696 2022
20
Utility of trio-based prenatal exome sequencing incorporating splice-site and mitochondrial genome assessment in pregnancies with fetal ultrasound anomalies: prospective cohort study. 62
35726512 2022
21
Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD). 62
36362756 2022
22
OHVIRA (Obstructed Hemivagina and Ipsilateral Renal Anomaly or Herlyn-Werner-Wunderlich syndrome): Is it time for age-specific management? 62
35487798 2022
23
Prenatal ultrasound-assisted identification of multiple malformations caused by a deletion in the long-arm end of chromosome 7 and review of the literature. 62
33213225 2022
24
Pre-viable preterm premature rupture of membranes under 20 weeks of pregnancy: A retrospective cohort analysis for potential outcome predictors. 62
36208524 2022
25
Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations. 62
35772019 2022
26
Single institution experience of cloacal malformation. 62
36384941 2022
27
Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report. 62
36316881 2022
28
Congenital malformations of the urinary tract: progression to chronic renal disease. 62
36217787 2022
29
Dilemma after termination of pregnancy due to urogenital fetal anomalies: Discrepancy between prenatal ultrasonographic diagnosis and autopsy. 62
34951011 2022
30
NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination. 62
35987473 2022
31
Differentiating pediatric cystic nephroma from common renal multicystic lesions: A case report. 62
36308211 2022
32
Inverted-Y Ureteric Duplication With Paraureteric Diverticulum Presenting With Bladder Outlet Obstruction in an Infant- A Diagnostic Dilemma. 62
36283504 2022
33
Pop-off mechanisms as protective factors against chronic renal disease in children with posterior urethral valves. 62
36217788 2022
34
NEK8-Associated Nephropathies: Do Autosomal Dominant Forms Exist? 62
36215968 2022
35
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
36
Associated Anomalies and Complications of Multicystic Dysplastic Kidney. 62
36136083 2022
37
A case of right hypodysplastic kidney and ectopic ureter associated with bicornuate uterus in a prepubertal girl. 62
36056295 2022
38
A Central Role of Telomere Dysfunction in the Formation of a Unique Translocation within the Sub-Telomere Region Resulting in Duplication and Partial Trisomy. 62
36292646 2022
39
Prenatal sonographic findings in a cohort of foetuses with a confirmed 22q11.2 microdeletion at a single Chinese Tertiary Centre. 62
35998262 2022
40
Clinical Features in Patients with Xq23 Microdeletion: A Case Report and Literature Review 62
33535730 2022
41
Prenatal caffeine exposure induced renal developmental toxicity and transgenerational effect in rat offspring. 62
35537649 2022
42
Disruption of mitochondrial complex III in cap mesenchyme but not in ureteric progenitors results in defective nephrogenesis associated with amino acid deficiency. 62
35341793 2022
43
[Prenatal screening and diagnosis for a fetus with mosaic sex chromosome abnormality]. 62
35810439 2022
44
Utility of renal scintigraphy in diagnosis of multicystic dysplastic kidney. 62
35246854 2022
45
Concurrent Multicystic Dysplastic Kidney, Posterior Urethral Valves, and Obstructive Ureterocele in a Male Pediatric Patient: A Case Report. 62
35504454 2022
46
Peritoneal Dialysis and Inflammatory Demyelinating Polyneuropathy: A Correlation or Co-Incidence? 62
36000097 2022
47
Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis. 62
35765027 2022
48
Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B. 62
35695966 2022
49
First case of two supernumerary markers derived from chromosome 5 and chromosome 8. 62
35761408 2022
50
Ocular phenotype in a patient with PAX2 gene mutation-associated papillorenal syndrome. 62
34889688 2022

Variations for Renal Dysplasia

ClinVar genetic disease variations for Renal Dysplasia:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WNT9B, LRRC37A2 NM_003396.3(WNT9B):c.11dup (p.Pro5fs) DUP Likely Pathogenic
1344867 GRCh37: 17:44929009-44929010
GRCh38: 17:46851643-46851644

Expression for Renal Dysplasia

Search GEO for disease gene expression data for Renal Dysplasia.

Pathways for Renal Dysplasia

GO Terms for Renal Dysplasia

Biological processes related to Renal Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kidney development GO:0001822 9.13 WNT9B GATA3
2 cell fate commitment GO:0045165 8.92 WNT9B GATA3

Sources for Renal Dysplasia

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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