MCID: RNL078
MIFTS: 50

Renal Dysplasia

Categories: Nephrological diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Renal Dysplasia

MalaCards integrated aliases for Renal Dysplasia:

Name: Renal Dysplasia 56 29 52
Renal Cell Dysplasia 69

Characteristics:

Orphanet epidemiological data:

56
renal dysplasia
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: All ages,Antenatal; Age of death: any age;

Classifications:



External Ids:

Orphanet 56 ORPHA93108
UMLS via Orphanet 70 C3536714
ICD10 via Orphanet 34 Q61.4
ICD10 33 Q61.4

Summaries for Renal Dysplasia

MalaCards based summary : Renal Dysplasia, also known as renal cell dysplasia, is related to adenocarcinoma and hypoparathyroidism, sensorineural deafness, and renal dysplasia. An important gene associated with Renal Dysplasia is REN (Renin), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Adipogenesis. The drugs Menthol and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and liver, and related phenotypes are cardiovascular system and mortality/aging

Wikipedia : 72 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 176)
id Related Disease Score Top Affiliating Genes
1 adenocarcinoma 27.6 ACE AGT AGTR1 REN
2 hypoparathyroidism, sensorineural deafness, and renal dysplasia 12.1
3 renal dysplasia-limb defects syndrome 12.1
4 renal dysplasia, cystic 12.0
5 torticollis, keloids, cryptorchidism, and renal dysplasia 11.9
6 renal dysplasia, unilateral 11.8
7 renal dysplasia, bilateral 11.8
8 renal dysplasia diffuse cystic 11.8
9 renal dysplasia diffuse autosomal recessive 11.7
10 congenital anomalies of kidney and urinary tract 2 11.4
11 short-rib thoracic dysplasia 9 with or without polydactyly 11.1
12 multicystic dysplastic kidney 11.0
13 unilateral multicystic dysplastic kidney 11.0
14 bilateral multicystic dysplastic kidney 11.0
15 senior-loken syndrome-1 11.0
16 perlman syndrome 11.0
17 nail-patella syndrome 10.9
18 say syndrome 10.9
19 renal hypodysplasia/aplasia 2 10.8
20 renal hypodysplasia/aplasia 1 10.8
21 renal-hepatic-pancreatic dysplasia 10.8
22 branchiootorenal syndrome 1, with or without cataracts 10.7
23 branchiootorenal syndrome 2 10.7
24 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 10.7
25 hypoparathyroidism-deafness-renal disease syndrome 10.7
26 brachymesomelia renal syndrome 10.7
27 fraser jequier chen syndrome 10.7
28 selig benacerraf greene syndrome 10.7
29 urethral obstruction sequence 10.7
30 senior-løken syndrome 10.7
31 culler-jones syndrome 10.6
32 pallister-hall syndrome 10.6
33 bifid nose with or without anorectal and renal anomalies 10.6
34 thauvin-robinet-faivre syndrome 10.6
35 bardet-biedl syndrome 10 10.6
36 alagille syndrome 1 10.6
37 fanconi anemia, complementation group b 10.6
38 proud syndrome 10.6
39 vater/vacterl association 10.6
40 acrocephalopolydactylous dysplasia 10.6
41 oligomeganephronic renal hypoplasia 10.6
42 benign tumor of fallopian tubes 10.5 PAX2 REN
43 hypothyroidism due to iodide transport defect 10.4 ACE REN
44 primary hyperoxaluria 10.3 ACE REN
45 renal tubular dysgenesis, ren-related 10.3 HNF1B PAX2 SALL1
46 atrial septal defect 7, with or without av conduction defects 10.3 ACE REN
47 mody, type ii 10.2 ACE REN
48 hypodontia of incisors and premolars 10.2 ACE REN
49 listeriosis 10.2 ACE REN
50 non-congenital cyst of kidney 10.2 ACE REN

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



Diseases related to Renal Dysplasia

Symptoms & Phenotypes for Renal Dysplasia

MGI Mouse Phenotypes related to Renal Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.29 AGTR1 GDNF BICC1 BMP2 ACE AGT
2 mortality/aging MP:0010768 10.2 AGTR1 GDNF BICC1 BMP2 ACE EBF3
3 growth/size/body region MP:0005378 10.18 GATA3 AGTR1 GDNF BICC1 ACE BMP2
4 homeostasis/metabolism MP:0005376 10.11 GATA3 AGTR1 BICC1 ACE BMP2 AGT
5 embryo MP:0005380 10.09 BICC1 BMP2 GATA3 LMX1B SHH PAX2
6 digestive/alimentary MP:0005381 10 GATA3 BICC1 GDNF BMP2 SHH KIF7
7 nervous system MP:0003631 9.93 AGTR1 GDNF BMP2 EBF3 AGT GATA3
8 muscle MP:0005369 9.86 GATA3 GDNF AGT LMX1B SHH HNF1B
9 renal/urinary system MP:0005367 9.73 GDNF BICC1 ACE AGT GATA3 AGTR1
10 reproductive system MP:0005389 9.32 BICC1 GDNF BMP2 ACE AGT GATA3

Drugs & Therapeutics for Renal Dysplasia

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

(show all 36)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved Phase 4 2216-51-5 16666
2 Liver Extracts Phase 4
3
Indomethacin Approved, Investigational Phase 2, Phase 3 53-86-1 3715
4
Ramipril Approved Phase 3 87333-19-5 5362129
5
Telmisartan Approved, Investigational Phase 3 144701-48-4 65999
6 Analgesics Phase 2, Phase 3
7 Cyclooxygenase Inhibitors Phase 2, Phase 3
8 Analgesics, Non-Narcotic Phase 2, Phase 3
9 Tocolytic Agents Phase 2, Phase 3
10 Angiotensin Receptor Antagonists Phase 3
11 Angiotensin-Converting Enzyme Inhibitors Phase 3
12 Peripheral Nervous System Agents Phase 2, Phase 3
13 Anti-Inflammatory Agents Phase 2, Phase 3
14 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3
15 Antihypertensive Agents Phase 3
16 Antirheumatic Agents Phase 2, Phase 3
17
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
18
Everolimus Approved Phase 2 159351-69-6 6442177
19
Fludrocortisone Approved Phase 2 127-31-1 31378
20
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
21 Anti-Bacterial Agents Phase 2
22 Anti-Infective Agents Phase 2
23 Immunosuppressive Agents Phase 2
24 Antifungal Agents Phase 2
25 Antibiotics, Antitubercular Phase 2
26
Ibuprofen Approved 15687-27-1 3672
27
Ropivacaine Approved 84057-95-4 71273 175805
28
Tolnaftate Approved, Vet_approved 2398-96-1 5510
29 Central Nervous System Depressants
30 Natriuretic Agents
31 Natriuretic Peptide, Brain
32 Anesthetics
33 Anesthetics, Local
34 Pharmaceutical Solutions
35 Anticholesteremic Agents
36 diuretics

Interventional clinical trials:

(show all 29)

id Name Status NCT ID Phase Drugs
1 Endoesophageal Cryotherapy For Ablating Barrett's Esophagus and Early Stage Esophageal Cancer Unknown status NCT00628784 Phase 4
2 Effect of Strict Blood Pressure Control and ACE-Inhibition on Progression of Chronic Renal Failure in Pediatric Patients Completed NCT00221845 Phase 3 ACE Inhibition;Intensified Blood Pressure Control;Add-on Angiotensin Receptor Blockade
3 Gadobutrol Enhanced MRA of the Renal Arteries Completed NCT01344460 Phase 3 Gadobutrol (Gadovist, BAY86-4875)
4 An Escalating Dose Indomethacin for the Treatment of Persistent Patent Ductus Arteriosus (PDA) In Preterm Infants Terminated NCT00750581 Phase 2, Phase 3 Indomethacin
5 A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD Recruiting NCT02451696 Phase 2 Everolimus
6 Impact of the Administration of Fludrocortisone in Very Premature Infants Recruiting NCT03001089 Phase 2 Oral Fludrocortisone (enteral);Placebo Oral Tablet
7 The Correlation Between Renal Injury and Biomarkers in Pediatric Ureteropelvic Junction Obstruction Patients Unknown status NCT01711996
8 Ureteropelvic Junction Obstruction in Early Childhood: Comparison of Surgical Therapy and Surveillance. A Prospective, Randomized, Controlled Multi-Center Study Unknown status NCT00444431
9 The Efficacy and Safety of Local Anesthetic Infusion With Ropivacaine Completed NCT00930046
10 Renal Arteries Dysplastic Aneurysms: Anatomopathological and Genetic Study Completed NCT02528149
11 Cross-sectional Study of Patients With Renal or Craniocervical Fibromuscular Dysplasia Completed NCT02884141
12 Dismembered Pyeloplasty With and Without After Coming Stent Completed NCT02138877
13 Pathophysiological Mechanisms of Fibromuscular Dysplasia Completed NCT01935752
14 CAUSE Trial: Patient Specific-Cellular Characterization of Fibromuscular Dysplasia and High-Risk Atherosclerotic Endothelium Completed NCT01808729
15 Closure of Patent Ductus Arteriosus With Indomethacin or Ibuprofen in Extreme Low Birth Weight Infants Completed NCT01758913 Ibuprofen
16 Do Elevated BNP Levels Predict Hemodynamically Significant PDAs Completed NCT01497054
17 Indwelling Double-J Ureteral Stent Versus Externalized Modified-Salle Stent for Pyeloplasty Recruiting NCT02713633
18 Assessment of Renal Artery Fibromuscular Dysplasia: From Diagnosis to Treatment Recruiting NCT02586870
19 Randomized Trial of NSAID vs Placebo Prior to Ureteral Stent Removal Recruiting NCT02140970 Ibuprofen;Placebo
20 Ano-genital Human Papillomavirus (HPV) Infection, Precancerous Lesions and Genital Warts Among Danish Renal Transplant Recipients Recruiting NCT03018327
21 The Study of the Prevalence Fibromuscular Dysplasia in Patient With Haematoma or Spontaneous Coronary Artery Dissection. Recruiting NCT02799186
22 A Prospective Danish National Registry of PTRA in Patients With Renovascular Hypertension Recruiting NCT02770066
23 Impact of an Endoscopic Treatment of the Line Z on the Gastronomic Recurrence and the Gastro- Esophageal Reflux Disease in the Care of the Adenocarcinoma of Barrett's Oesophagus Recruiting NCT03278327
24 Amniotic Biomarkers in the Prediction of Postpartum Renal Function. Active, not recruiting NCT02675686
25 Cohort Follow-up of Patients With Renal or Craniocervical Fibromuscular Dysplasia Active, not recruiting NCT02961868
26 Diagnostic Relevance of Laser Confocal Microscopy for the Screening of Upper Urinary Tract Tumors Active, not recruiting NCT02276924
27 Ambulatory Blood Pressure Measurement in Children With Congenital Urine Flow Obstruction Available NCT00764543
28 CTT on Renogram as an Early Marker of Significant Obstruction in Uretero-pelvic Junction Syndrome Not yet recruiting NCT02812212
29 Timing of PDA Closure and Respiratory Outcome in Premature Infants Terminated NCT00802685 Early ibuprofen

Search NIH Clinical Center for Renal Dysplasia

Genetic Tests for Renal Dysplasia

Genetic tests related to Renal Dysplasia:

id Genetic test Affiliating Genes
1 Renal Dysplasia 29

Anatomical Context for Renal Dysplasia

MalaCards organs/tissues related to Renal Dysplasia:

39
Kidney, Brain, Liver, Uterus, Testis, Pituitary, Prostate

Publications for Renal Dysplasia

Articles related to Renal Dysplasia:

(show top 50) (show all 349)
id Title Authors Year
1
Unusual Proliferative Glomerulonephritis in a Patient Diagnosed to Have Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome with a Novel Mutation in the GATA3 Gene. ( 28566604 )
2017
2
Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome. ( 28303854 )
2017
3
Unilateral multicystic renal dysplasia: Prenatal diagnosis on ultrasound. ( 28748898 )
2017
4
A questionnaire survey of radiological diagnosis and management of renal dysplasia in children. ( 28647851 )
2017
5
A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome. ( 28524840 )
2017
6
Renal dysplasia characterized by prominent cartilaginous metaplasia lesions in VACTERL association: A case report. ( 28403078 )
2017
7
Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome. ( 27387476 )
2016
8
A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene. ( 27183861 )
2016
9
Stromal I^-catenin overexpression contributes to the pathogenesis of renal dysplasia. ( 26956838 )
2016
10
Unilateral congenital giant megaureter with renal dysplasia compressing contralateral ureter and causing bilateral hydronephrosis: a case report and literature review. ( 26860315 )
2016
11
Renal dysplasia in the neonate. ( 26849006 )
2016
12
EP10.04: Congenital dwarfism with renal dysplasia: case report. ( 27645547 )
2016
13
Bilateral renal dysplasia, hydronephrosis, and hydroureter in a septic neonatal foal. ( 25750445 )
2015
14
A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome. ( 26514990 )
2015
15
The Good and Bad of I^-Catenin in Kidney Development and Renal Dysplasia. ( 26734608 )
2015
16
Renal dysplasia. ( 25822765 )
2015
17
Tumoral calcinosis in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome undergoing hemodialysis. ( 25767699 )
2015
18
Bilateral Renal Dysplasia, Nephroblastomatosis, and Bronchial Stenosis. A New Syndrome? ( 25871299 )
2015
19
A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome. ( 26777049 )
2015
20
The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome. ( 26316437 )
2015
21
Potential Usefulness of 99mTc-DMSA for Radio-Guided Surgery in Pediatric Renal Dysplasia. ( 26462041 )
2015
22
The Syndrome of Familial Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia. ( 26710407 )
2015
23
Renal dysplasia in Bardet-Biedl syndrome. ( 26076793 )
2015
24
I^-catenin overexpression in the metanephric mesenchyme leads to renal dysplasia genesis via cell-autonomous and non-cell-autonomous mechanisms. ( 24637293 )
2014
25
Renal dysplasia with the ipsilateral ectopic ureter mimicking abscess of the prostate. ( 24665582 )
2014
26
Fetal and Postnatal Magnetic Resonance Imaging of Unilateral Cystic Renal Dysplasia in a Neonate with Tuberous Sclerosis. ( 24495558 )
2014
27
Ectopic ureter, renal dysplasia, and recurrent epididymitis in an infant: case report and review of the literature. ( 25356227 )
2014
28
Neonatal diagnosis of a patient with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome associated with cerebral infarction. ( 24859509 )
2014
29
Spontaneous unilateral renal dysplasia in a clinically healthy cynomolgus monkey (Macaca fascicularis). ( 25053241 )
2014
30
GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome. ( 25124981 )
2014
31
Bilateral diffuse cystic renal dysplasia in a 9-day-old Thoroughbred filly. ( 24489392 )
2014
32
Non-invasive renal artery embolization for renal dysplasia accompanied by hypertension. ( 24548196 )
2014
33
Allelic variation in the canine Cox-2 promoter causes hypermethylation of the canine Cox-2 promoter in clinical cases of renal dysplasia. ( 24708682 )
2014
34
TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia. ( 24382792 )
2014
35
Transumbilical multiport laparoscopic nephroureterectomy for congenital renal dysplasia in children: midterm follow-up from a single institution. ( 24400291 )
2013
36
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation. ( 21845392 )
2013
37
The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. ( 24166810 )
2013
38
Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia. ( 23262432 )
2013
39
Primary intra-renal teratoma associated with renal dysplasia: an unusual entity. ( 24426520 )
2013
40
A novel GATA3 nonsense mutation in a newly diagnosed adult patient of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. ( 23186964 )
2013
41
Ahsa1 and Hsp90 activity confers more severe craniofacial phenotypes in a zebrafish model of hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR). ( 23720234 )
2013
42
Parathyroid hormone-independent hypercalcemia in an infant with renal dysplasia: possible role of PTHrP. ( 23327815 )
2013
43
A rare case of renal dysplasia: prenatal and postnatal management. ( 23688419 )
2013
44
Segmental renal dysplasia presenting as a solid mass on sonography. ( 22368144 )
2012
45
Renal dysplasia in grey Alpine breed cattle unrelated to CLDN16 mutations. ( 22021062 )
2012
46
Expression of concern: Novel allelic variants in the canine cyclooxgenase-2 (Cox-2) promoter are associated with renal dysplasia in dogs. ( 23145184 )
2012
47
Pediatric hydronephrotic segmental renal dysplasia with ipsilateral ureterovesical obstruction--rare coincidence or a consequence? ( 22414265 )
2012
48
Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia. ( 21922595 )
2012
49
Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay. ( 22609145 )
2012
50
Matrilysin (MMP-7) inhibition of BMP-7 induced renal tubular branching morphogenesis suggests a role in the pathogenesis of human renal dysplasia. ( 22215634 )
2012

Variations for Renal Dysplasia

ClinVar genetic disease variations for Renal Dysplasia:

6 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1 REN NM_000537.3(REN): c.145C> T (p.Arg49Ter) single nucleotide variant Pathogenic rs121917741 GRCh37 Chromosome 1, 204131245: 204131245
2 REN NM_000537.3(REN): c.689G> A (p.Arg230Lys) single nucleotide variant Pathogenic rs121917742 GRCh37 Chromosome 1, 204128527: 204128527
3 ACE NM_000789.3(ACE): c.798C> G (p.Tyr266Ter) single nucleotide variant Pathogenic rs121912704 GRCh37 Chromosome 17, 61557840: 61557840
4 ACE NM_000789.3(ACE): c.1319_1322delTGGA (p.Leu440Profs) deletion Pathogenic rs387906576 GRCh37 Chromosome 17, 61560027: 61560030
5 AGTR1 NM_031850.3(AGTR1): c.215dupT (p.Ile73Hisfs) duplication Pathogenic rs387906577 GRCh37 Chromosome 3, 148458932: 148458932
6 AGTR1 NM_031850.3(AGTR1): c.950C> T (p.Thr317Met) single nucleotide variant Pathogenic rs104893677 GRCh37 Chromosome 3, 148459667: 148459667
7 AGT NM_000029.3(AGT): c.1124G> A (p.Arg375Gln) single nucleotide variant Pathogenic rs74315283 GRCh37 Chromosome 1, 230841679: 230841679
8 AGT NM_000029.3(AGT): c.604C> T (p.Gln202Ter) single nucleotide variant Pathogenic rs121912702 GRCh37 Chromosome 1, 230845993: 230845993
9 AGT NM_000029.3(AGT): c.1290delT (p.Phe430Leufs) deletion Pathogenic rs387906578 GRCh37 Chromosome 1, 230839055: 230839055
10 AGTR1 NM_031850.3(AGTR1): c.356G> A (p.Trp119Ter) single nucleotide variant Pathogenic/Likely pathogenic rs398122935 GRCh37 Chromosome 3, 148459073: 148459073
11 AGTR1 NM_031850.3(AGTR1): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs397514687 GRCh37 Chromosome 3, 148459198: 148459198
12 ACE NM_000789.3(ACE): c.1486C> T (p.Arg496Ter) single nucleotide variant Pathogenic rs397514688 GRCh37 Chromosome 17, 61560533: 61560533
13 ACE NM_000789.3(ACE): c.2371C> T (p.Arg791Ter) single nucleotide variant Pathogenic rs397514689 GRCh37 Chromosome 17, 61566074: 61566074
14 REN NM_000537.3(REN): c.127C> T (p.Arg43Ter) single nucleotide variant Pathogenic rs397514690 GRCh37 Chromosome 1, 204131263: 204131263
15 REN NM_000537.3(REN): c.404C> A (p.Ser135Tyr) single nucleotide variant Pathogenic rs397514691 GRCh37 Chromosome 1, 204129776: 204129776
16 ACE NM_000789.3(ACE): c.12_31del20 (p.Ser5Alafs) deletion Pathogenic rs797045079 GRCh38 Chromosome 17, 63477106: 63477125
17 ACE NM_000789.3(ACE): c.1522C> T (p.Arg508Ter) single nucleotide variant Pathogenic/Likely pathogenic rs367797185 GRCh37 Chromosome 17, 61560855: 61560855
18 EBF3 NM_001005463.2(EBF3): c.512G> A (p.Gly171Asp) single nucleotide variant Pathogenic rs1057519437 GRCh37 Chromosome 10, 131755564: 131755564

Expression for Renal Dysplasia

Search GEO for disease gene expression data for Renal Dysplasia.

Pathways for Renal Dysplasia

Pathways related to Renal Dysplasia according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.56 HNF1B PAX2 SHH
2 11.45 AGT BMP2 GATA3
3 11.16 BMP2 GDNF PAX2 SHH
4 10.74 ACE AGT AGTR1 REN

GO Terms for Renal Dysplasia

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

(show all 47)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.97 AGT BMP2 EBF3 GATA3 HNF1B PAX2
2 heart development GO:0007507 9.94 BICC1 BMP2 SALL1 SHH
3 regulation of blood pressure GO:0008217 9.81 ACE AGT REN
4 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.81 BMP2 EBF3 GATA3 GDNF HNF1B LMX1B
5 negative regulation of gene expression GO:0010629 9.8 BMP2 GATA3 SHH
6 positive regulation of cell differentiation GO:0045597 9.76 BMP2 GATA3 GDNF SHH
7 positive regulation of Wnt signaling pathway GO:0030177 9.75 BMP2 SALL1 SHH
8 dopaminergic neuron differentiation GO:0071542 9.7 LMX1B SHH
9 hindbrain development GO:0030902 9.7 HNF1B SHH
10 regulation of vasoconstriction GO:0019229 9.7 ACE AGT AGTR1
11 renal system development GO:0072001 9.69 GATA3 SHH
12 embryonic digestive tract morphogenesis GO:0048557 9.69 HNF1B SHH
13 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.69 AGT GDNF PAX2
14 anatomical structure formation involved in morphogenesis GO:0048646 9.68 GATA3 SHH
15 cell fate determination GO:0001709 9.68 GATA3 PAX2
16 positive regulation of cellular protein metabolic process GO:0032270 9.68 AGT AGTR1
17 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.68 AGT AGTR1
18 sympathetic nervous system development GO:0048485 9.67 GATA3 GDNF
19 embryonic morphogenesis GO:0048598 9.67 HNF1B SHH
20 beta-amyloid metabolic process GO:0050435 9.67 ACE REN
21 mesonephros development GO:0001823 9.67 GATA3 PAX2 REN
22 regulation of blood vessel diameter GO:0097746 9.66 ACE AGTR1
23 low-density lipoprotein particle remodeling GO:0034374 9.66 AGT AGTR1
24 positive regulation of cholesterol esterification GO:0010873 9.65 AGT AGTR1
25 mesenchymal to epithelial transition GO:0060231 9.65 GATA3 PAX2
26 angiotensin maturation GO:0002003 9.65 ACE AGT REN
27 telencephalon regionalization GO:0021978 9.63 BMP2 SHH
28 pronephros development GO:0048793 9.62 HNF1B PAX2
29 positive regulation of NAD(P)H oxidase activity GO:0033864 9.62 AGT AGTR1
30 ureteric bud formation GO:0060676 9.61 GATA3 GDNF
31 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.61 GDNF PAX2
32 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.61 GDNF PAX2 SALL1
33 positive regulation of ureteric bud formation GO:0072107 9.6 GATA3 GDNF
34 regulation of renal sodium excretion GO:0035813 9.59 AGT AGTR1
35 ureter maturation GO:0035799 9.58 GATA3 PAX2
36 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.58 ACE AGT AGTR1
37 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.57 AGT AGTR1
38 regulation of blood volume by renin-angiotensin GO:0002016 9.56 AGT REN
39 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 9.55 HNF1B PAX2
40 regulation of renal output by angiotensin GO:0002019 9.54 ACE AGT
41 renin-angiotensin regulation of aldosterone production GO:0002018 9.5 AGT AGTR1 REN
42 nephric duct formation GO:0072179 9.43 GATA3 HNF1B PAX2
43 branching involved in ureteric bud morphogenesis GO:0001658 9.35 BMP2 GDNF PAX2 SALL1 SHH
44 kidney development GO:0001822 9.23 ACE AGT AGTR1 GATA3 HNF1B REN
45 regulation of transcription, DNA-templated GO:0006355 10.31 BMP2 CDC5L EBF3 GATA3 HNF1B LMX1B
46 multicellular organism development GO:0007275 10.17 BICC1 BMP2 EBF3 LMX1B PAX2 SHH
47 positive regulation of gene expression GO:0010628 10 BMP2 GATA3 HNF1B SHH

Molecular functions related to Renal Dysplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.65 CDC5L GATA3 HNF1B LMX1B SALL1
2 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.33 GATA3 HNF1B LMX1B
3 core promoter proximal region sequence-specific DNA binding GO:0000987 9.32 GATA3 PAX2
4 transcription regulatory region DNA binding GO:0044212 9.02 CDC5L GATA3 HNF1B PAX2 SALL1
5 bradykinin receptor binding GO:0031711 8.96 ACE AGTR1

Sources for Renal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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