Renal Dysplasia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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...

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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:

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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%)

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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

Synonyms:

(+-)-2-(p-Isobutylphenyl)propionate

(+-)-2-(p-Isobutylphenyl)propionic acid

(+-)-alpha-Methyl-4-(2-methylpropyl)benzeneacetate

(+-)-alpha-Methyl-4-(2-methylpropyl)benzeneacetic acid

(+-)-a-Methyl-4-(2-methylpropyl)benzeneacetate

(+-)-a-Methyl-4-(2-methylpropyl)benzeneacetic acid

(+-)-Ibuprofen

(+-)-p-Isobutylhydratropate

(+-)-p-Isobutylhydratropic acid

(+-)-Α-methyl-4-(2-methylpropyl)benzeneacetate

(+-)-Α-methyl-4-(2-methylpropyl)benzeneacetic acid

(±)-2-(P-ISOBUTYLPHENYL)PROPIONIC ACID

(±)-IBUPROFEN

(±)-P-ISOBUTYLHYDRATROPIC ACID

(±)-Α-METHYL-4-(2-METHYLPROPYL)BENZENEACETIC ACID

(4-Isobutylphenyl)-alpha-methylacetate

(4-Isobutylphenyl)-alpha-methylacetic acid

(4-Isobutylphenyl)-a-methylacetate

(4-Isobutylphenyl)-a-methylacetic acid

(4-Isobutylphenyl)-α-methylacetate

(4-Isobutylphenyl)-α-methylacetic acid

(RS)-Ibuprofen

2-(4-Isobutylphenyl)propanoate

2-(4-Isobutylphenyl)propanoic acid

4-Isobutylhydratropate

4-Isobutylhydratropic acid

a-(4-Isobutylphenyl)propionate

a-(4-Isobutylphenyl)propionic acid

a-(p-Isobutylphenyl)propionate

a-(p-Isobutylphenyl)propionic acid

ACHES-N-PAIN

Actiprofen

Adran

Advil

ADVIL LIQUI-GELS

ADVIL MIGRAINE LIQUI-GELS

alpha-(4-Isobutylphenyl)propionate

alpha-(4-Isobutylphenyl)propionic acid

alpha-(p-Isobutylphenyl)propionate

alpha-(p-Isobutylphenyl)propionic acid

alpha-Methyl-4-(2-methylpropyl)benzeneacetic acid

alpha-p-Isobutylphenylpropionate

alpha-p-Isobutylphenylpropionic acid

Aluminum salt ibuprofen

Amersol

Amibufen

ANADIN JOINT PAIN

ANADIN LIQUIFAST

ANADIN PERIOD PAIN RELIEF

ANADIN ULTRA

Anco

Andran

Anflagen

Apo-Ibuprofen

Apsifen

APSIFEN-F

ARTHROFEN 200

ARTHROFEN 400

ARTHROFEN 600

Artril 300

Bluton

Brufanic

Brufen

BRUFEN RET

Brufort

Buburone

Butylenin

Calcium salt ibuprofen

CALDOLOR

CAP-PROFEN

CHILDREN'S ADVIL

CHILDREN'S ADVIL-FLAVORED

CHILDREN'S ELIXSURE

CHILDREN'S IBUPROFEN

CHILDREN'S MOTRIN

CODAFEN CONTINUS

Codral

CO-OP

CUPROFEN FOR CHILD

CUPROFEN PLUS

DEEP RELIEF

Dolgin

Dolgirid

Dolgit

Dolocyl

Dolo-dolgit

Duralbuprofen

Ebufac

Emodin

Epobron

Femadon

FEMAFEN

FENBID

FENBID FTE

Fenbid Spansule

FENPAED

FEVERFEN

FLEXIMEX

Haltran

I.V. solution, ibuprofen

IB-100

Ibu

Ibu-attritin

IBUCALM

IBUDERM

IBUFAC

Ibufen

IBUGEL

IBUGEL FTE

IBULAR

IBULEVE

IBUMED

Ibumetin

IBUMOUSSE

IBUPRIN

Ibuprocin

IBUPROFEN

Ibuprofen i.v. solution

Ibuprofen zinc

Ibuprofen, (+-)-isomer

Ibuprofen, (R)-isomer

Ibuprofen, (S)-isomer

Ibuprofen, aluminum salt

Ibuprofen, calcium salt

Ibuprofen, copper (2+) salt

Ibuprofen, magnesium salt

Ibuprofen, potassium salt

Ibuprofen, sodium salt

Ibuprofen, zinc salt

Ibuprofene

Ibuprofeno

Ibuprofenum

Ibuprofen-zinc

IBUPROHM

IBUPROPHEN

IBU-SLO

IBUSPRAY

IBU-TAB

IBU-TAB 200

Ibutid

IBUTIME

Ifen

Inabrin

Inoven

IP 82

IP-82

ISISFEN

JUNIFEN

JUNIOR STRENGTH ADVIL

JUNIOR STRENGTH IBUPROFEN

JUNIOR STRENGTH MOTRIN

Lamidon

Lebrufen

LIDIFEN

LIDIFEN-F

Liptan

LOBUFEN

M01AE01

Magnesium salt ibuprofen

MANDAFEN

MANORFEN

MAXA-GESIC

Medipren

MIDOL

Midol 200

MIDOL LIQUID GELS

MIGRAFEN

Motrin

MOTRIN IB

MOTRIN MIGRAINE PAIN

Mynosedin

Napacetin

NeoProfen

Nobfelon

Nobfen

Nobgen

NOVAPRIN

Novogent N

Novoprofen

NSC-256857

Nuprin

Nurofen

NUROFEN 400

NUROFEN BACK PAIN SR

NUROFEN CHILD

NUROFEN FOR CHILD

NUROFEN PLUS

NUROFEN RECOVERY

NUROFEN SINUS

NUROFEN SOLB

ORBIFEN

PACIFENE

Pantrop

Para-Isobutylhydratropic Acid

PAXOFEN

PEDEA

Pediaprofen

Pedia-Profen

PEDIATRIC ADVIL

PHENSIC

PHOR PAIN

PHORPAIN

PHORPAIN MAX STRGH

p-Isobutyl-2-phenylpropionate

p-Isobutyl-2-phenylpropionic acid

p-Isobutylhydratropate

p-Isobutylhydratropic acid

Potassium salt ibuprofen

PROFEN

PROFLEX

PROFLEX SR

Rafen

RD 13621

Rebugen

RELCOFEN

RIMAFEN

Roidenin

Rufen

Salprofen

Salt ibuprofen, magnesium

Salt ibuprofen, sodium

Salt ibuprofen, zinc

Seclodin

Sodium salt ibuprofen

Suspren

Tabalon

TAB-PROFEN

Trauma dolgit gel

Trauma-dolgit gel

TraumaDolgit gel

Trendar

U-18573

Urem

Zinc salt ibuprofen

Α-(4-isobutylphenyl)propionate

Α-(4-isobutylphenyl)propionic acid

Α-(p-isobutylphenyl)propionate

Α-(p-isobutylphenyl)propionic acid

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

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Genetic Tests for Renal Dysplasia

Genetic tests related to Renal Dysplasia:

#	Genetic test	Affiliating Genes
1	Renal Dysplasia ²⁸

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Anatomical Context for Renal Dysplasia

Organs/tissues related to Renal Dysplasia:

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

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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	Lemire G...Sawyer SL	34145744	2021
2	HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication. ⁵³ ⁶²	Bernardini L...Dallapiccola B	19659764	2009
3	HDR syndrome: a novel "de novo" mutation in GATA3 gene. ⁵³ ⁶²	Ferraris S...Ponzone A	19248180	2009
4	10p12.1 deletion: HDR phenotype without DGS2 features. ⁵³ ⁶²	Benetti E...Artifoni L	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	Gambaro G...D'Angelo A	15814540	2005
6	Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome. ⁵³ ⁶²	Zahirieh A...Pei Y	15705923	2005
7	Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney development. ⁵³ ⁶²	Bohn S...Ryffel GU	12874457	2003
8	Glial cell line derived neurotrophic factor is expressed by epithelia of human renal dysplasia. ⁵³ ⁶²	El-Ghoneimi A...Peuchmaur M	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	Goto M...Hayashi Y	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	Iwasaki N...Iwamoto Y	11317673	2001
11	Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene. ⁵³ ⁶²	Salerno A...Kaplan BS	10654325	2000
12	Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330). ⁵³ ⁶²	Devriendt K...Leys A	9760197	1998
13	Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. ⁵³ ⁶²	Dreyer SD...Lee B	9590287	1998
14	Neurturin, a novel neurotrophic factor, is localized to mouse chromosome 17 and human chromosome 19p13.3. ⁵³ ⁶²	Heuckeroth RO...Milbrandt J	9286710	1997
15	Zinner's syndrome: Masquerading as pyonephrotic ectopic kidney. ⁶²	Ansari FM...Maurya MK	36340236	2023
16	Zinner syndrome in children: clinical presentation, imaging findings, diagnosis, and outcome. ⁶²	Lin CC...Tsai JD	35332378	2022
17	Ultrasound and molecular prenatal diagnosis of Beckwith-Wiedemann syndrome: Two case reports. ⁶²	de Vasconcelos Gaspar A...Ramos F	36281281	2022
18	Hypertension crisis as the first symptom of renovascular hypertension in children. ⁶²	Xu L...Qin Y	36461036	2022
19	TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome. ⁶²	Li G...Wu N	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	Zhu X...Kong X	35726512	2022
21	Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD). ⁶²	Sekine A...Muto S	36362756	2022
22	OHVIRA (Obstructed Hemivagina and Ipsilateral Renal Anomaly or Herlyn-Werner-Wunderlich syndrome): Is it time for age-specific management? ⁶²	Zarfati A...Lucchetti MC	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	Zhao X...Tian R	33213225	2022
24	Pre-viable preterm premature rupture of membranes under 20 weeks of pregnancy: A retrospective cohort analysis for potential outcome predictors. ⁶²	Kraft K...Reister F	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	Kohl S...Liebau MC	35772019	2022
26	Single institution experience of cloacal malformation. ⁶²	Lane VA...Jaffray B	36384941	2022
27	Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report. ⁶²	Tang P...Zhu J	36316881	2022
28	Congenital malformations of the urinary tract: progression to chronic renal disease. ⁶²	Ibarra Rodriguez MR...Paredes Esteban RM	36217787	2022
29	Dilemma after termination of pregnancy due to urogenital fetal anomalies: Discrepancy between prenatal ultrasonographic diagnosis and autopsy. ⁶²	Ozdemir O...Sen C	34951011	2022
30	NPHP3 splice acceptor site variant is associated with infantile nephronophthisis and asphyxiating thoracic dystrophy; A rare combination. ⁶²	Ijaz A...Basit S	35987473	2022
31	Differentiating pediatric cystic nephroma from common renal multicystic lesions: A case report. ⁶²	Zhou J...Gao Y	36308211	2022
32	Inverted-Y Ureteric Duplication With Paraureteric Diverticulum Presenting With Bladder Outlet Obstruction in an Infant- A Diagnostic Dilemma. ⁶²	Gaur SKS...Sharma K	36283504	2022
33	Pop-off mechanisms as protective factors against chronic renal disease in children with posterior urethral valves. ⁶²	Massaguer C...Garcia-Aparicio L	36217788	2022
34	NEK8-Associated Nephropathies: Do Autosomal Dominant Forms Exist? ⁶²	Mehawej C...Megarbane A	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	Dracopoulos C...Weichert J	34689682	2022
36	Associated Anomalies and Complications of Multicystic Dysplastic Kidney. ⁶²	Kopac M...Kordic R	36136083	2022
37	A case of right hypodysplastic kidney and ectopic ureter associated with bicornuate uterus in a prepubertal girl. ⁶²	Nakamura M...Harita Y	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	M'Kacher R...Jeandidier E	36292646	2022
39	Prenatal sonographic findings in a cohort of foetuses with a confirmed 22q11.2 microdeletion at a single Chinese Tertiary Centre. ⁶²	Jing XY...Li DZ	35998262	2022
40	Clinical Features in Patients with Xq23 Microdeletion: A Case Report and Literature Review ⁶²	Qin L...Tang LF	33535730	2022
41	Prenatal caffeine exposure induced renal developmental toxicity and transgenerational effect in rat offspring. ⁶²	Zhao X...Ao Y	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	Guan N...Haase VH	35341793	2022
43	[Prenatal screening and diagnosis for a fetus with mosaic sex chromosome abnormality]. ⁶²	Feng L...Tang L	35810439	2022
44	Utility of renal scintigraphy in diagnosis of multicystic dysplastic kidney. ⁶²	Hannallah A...Vasquez E	35246854	2022
45	Concurrent Multicystic Dysplastic Kidney, Posterior Urethral Valves, and Obstructive Ureterocele in a Male Pediatric Patient: A Case Report. ⁶²	Willis K...Keefe DT	35504454	2022
46	Peritoneal Dialysis and Inflammatory Demyelinating Polyneuropathy: A Correlation or Co-Incidence? ⁶²	Bhuta K...Devkota K	36000097	2022
47	Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis. ⁶²	Huang R...Liao C	35765027	2022
48	Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B. ⁶²	Viehl L...Wambach JA	35695966	2022
49	First case of two supernumerary markers derived from chromosome 5 and chromosome 8. ⁶²	Giansante R...Guanciali Franchi P	35761408	2022
50	Ocular phenotype in a patient with PAX2 gene mutation-associated papillorenal syndrome. ⁶²	Benador-Shen CL...Choi CS	34889688	2022

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Genes for Renal Dysplasia

Genes related to Renal Dysplasia (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GATA3	GATA Binding Protein 3	Protein Coding	34.86	Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	15705923 19659764 19248180 (more) 19022243
2	CEP55	Centrosomal Protein 55	Protein Coding	25.31	GeneCards inferred via : Disorders Publications Summaries (show sections)
3	LRRC37A2	Leucine Rich Repeat Containing 37 Member A2	Protein Coding	25	Likely pathogenic ⁵	34145744
4	WNT9B	Wnt Family Member 9B	Protein Coding	25	Likely pathogenic ⁵	34145744
5	CDC5L	Cell Division Cycle 5 Like	Protein Coding	24.68	GeneCards inferred via : Disorders Publications Functions (show sections)

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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

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Expression for Renal Dysplasia

Search GEO for disease gene expression data for Renal Dysplasia.

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Pathways for Renal Dysplasia

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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

Sources for Renal Dysplasia

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: RNL078 MIFTS: 43	Renal Dysplasia Categories: Fetal diseases, Nephrological diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Renal Dysplasia

Aliases & Classifications for Renal Dysplasia

MalaCards integrated aliases for Renal Dysplasia:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Renal Dysplasia

Related Diseases for Renal Dysplasia

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

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

Symptoms & Phenotypes for Renal Dysplasia

Human phenotypes related to Renal Dysplasia:

Drugs & Therapeutics for Renal Dysplasia

Drugs for Renal Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Renal Dysplasia

Genetic tests related to Renal Dysplasia:

Anatomical Context for Renal Dysplasia

Organs/tissues related to Renal Dysplasia:

Publications for Renal Dysplasia

Articles related to Renal Dysplasia:

Genes for Renal Dysplasia

Genes related to Renal Dysplasia (0 elite genes):

Variations for Renal Dysplasia

ClinVar genetic disease variations for Renal Dysplasia:

Expression for Renal Dysplasia

Pathways for Renal Dysplasia

GO Terms for Renal Dysplasia

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

Sources for Renal Dysplasia