MCID: RNL078
MIFTS: 45

Renal Dysplasia malady

Categories: Nephrological diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Renal Dysplasia

Aliases & Descriptions 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
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 hypoparathyroidism, sensorineural deafness, and renal dysplasia and renal dysplasia-limb defects syndrome. An important gene associated with Renal Dysplasia is GATA3 (GATA Binding Protein 3), and among its related pathways/superpathways is Primary Focal Segmental Glomerulosclerosis FSGS. The drugs Menthol and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include kidney, uterus and testis, and related phenotypes are embryo and renal/urinary system

Wikipedia : 71 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 132)
id Related Disease Score Top Affiliating Genes
1 hypoparathyroidism, sensorineural deafness, and renal dysplasia 12.1
2 renal dysplasia-limb defects syndrome 12.0
3 renal dysplasia, cystic 12.0
4 torticollis, keloids, cryptorchidism, and renal dysplasia 11.9
5 renal dysplasia, unilateral 11.8
6 renal dysplasia, bilateral 11.8
7 renal dysplasia diffuse cystic 11.8
8 acro-pectoro-renal dysplasia 11.7
9 renal dysplasia diffuse autosomal recessive 11.7
10 pelviureteric junction obstruction 11.4
11 multicystic dysplastic kidney 11.2
12 bilateral multicystic dysplastic kidney 11.2
13 short-rib thoracic dysplasia 9 with or without polydactyly 11.1
14 senior-loken syndrome-1 11.0
15 unilateral multicystic dysplastic kidney 11.0
16 perlman syndrome 11.0
17 nail-patella syndrome 11.0
18 senior-løken syndrome 10.8
19 renal hypodysplasia/aplasia 2 10.8
20 renal hypodysplasia/aplasia 1 10.8
21 renal-hepatic-pancreatic dysplasia 10.8
22 fraser jequier chen syndrome 10.7
23 branchiootorenal syndrome 2 10.7
24 branchiootorenal syndrome 1, with or without cataracts 10.7
25 brachymesomelia renal syndrome 10.7
26 selig benacerraf greene syndrome 10.7
27 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 10.7
28 urethral obstruction sequence 10.7
29 hypoparathyroidism-deafness-renal disease syndrome 10.7
30 culler-jones syndrome 10.6
31 fanconi anemia, complementation group b 10.6
32 pallister-hall syndrome 10.6
33 alagille syndrome 10.6
34 proud syndrome 10.6
35 vater/vacterl association 10.6
36 hypoparathyroidism 10.1
37 muscular dystrophy-dystroglycanopathy , type b, 1 10.0 LMX1B PAX2
38 otofaciocervical syndrome 10.0 PAX2 SALL1
39 diarrhea 4, malabsorptive, congenital 9.9 BICC1 HNF1B
40 hereditary angioedema 9.9 PAX2 SALL1
41 pancreatic agenesis 2 9.9 PAX2 SALL1
42 congenital pulmonary airway malformation 9.9 HNF1B PAX2
43 pseudohypoparathyroidism ia 9.9 PAX2 SALL1
44 urethritis 9.8
45 situs inversus 9.8
46 hydronephrosis 9.8
47 vaginitis 9.8
48 gigantism 9.7
49 posterior urethral valves 9.7
50 polydactyly 9.7

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 embryo MP:0005380 9.43 HNF1B LMX1B PAX2 SALL1 BICC1 GATA3
2 renal/urinary system MP:0005367 9.1 HNF1B LMX1B PAX2 SALL1 BICC1 GATA3

Drugs & Therapeutics for Renal Dysplasia

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

(show top 50) (show all 94)
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
Progesterone Approved, Vet_approved Phase 2, Phase 3 57-83-0 5994
4
Indomethacin Approved, Investigational Phase 2, Phase 3 53-86-1 3715
5
Ramipril Approved Phase 3 87333-19-5 5362129
6
Telmisartan Approved, Investigational Phase 3 144701-48-4 65999
7 Progestins Phase 2, Phase 3
8 Analgesics Phase 2, Phase 3,Phase 1
9 Cyclooxygenase Inhibitors Phase 2, Phase 3,Phase 1
10 Tocolytic Agents Phase 2, Phase 3
11 Analgesics, Non-Narcotic Phase 2, Phase 3,Phase 1
12 Hormone Antagonists Phase 2, Phase 3
13 Hormones Phase 2, Phase 3
14 Peripheral Nervous System Agents Phase 2, Phase 3,Phase 1
15 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
16 Angiotensin Receptor Antagonists Phase 3
17 Angiotensin-Converting Enzyme Inhibitors Phase 3
18 Estrogen Antagonists Phase 2, Phase 3
19 Estrogens Phase 2, Phase 3
20 11-hydroxyprogesterone Phase 2, Phase 3
21 17-alpha-hydroxy-progesterone caproate Phase 2, Phase 3
22 Anti-Inflammatory Agents Phase 2, Phase 3,Phase 1
23 Antihypertensive Agents Phase 3
24 Anti-Inflammatory Agents, Non-Steroidal Phase 2, Phase 3,Phase 1
25 Antirheumatic Agents Phase 2, Phase 3,Phase 1
26 Caproate Nutraceutical Phase 2, Phase 3
27
Cyclosporine Approved, Investigational, Vet_approved Phase 1, Phase 2 79217-60-0, 59865-13-3 5284373 6435893
28
Cyclophosphamide Approved, Investigational Phase 1, Phase 2 50-18-0, 6055-19-2 2907
29
Mycophenolic acid Approved Phase 1, Phase 2 24280-93-1 446541
30
Mycophenolate mofetil Approved, Investigational Phase 1, Phase 2 128794-94-5 5281078
31
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
32
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
33
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
34
Everolimus Approved Phase 2 159351-69-6 6442177
35
Ampicillin Approved, Vet_approved Phase 2 69-53-4 6249
36
Cefotaxime Approved Phase 2 63527-52-6 456256 5742673
37
Cefoxitin Approved Phase 2 35607-66-0 441199
38
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
39
Fludrocortisone Approved Phase 2 127-31-1 31378
40 Alkylating Agents Phase 1, Phase 2
41 Dermatologic Agents Phase 1, Phase 2
42 Anti-Bacterial Agents Phase 1, Phase 2
43 Anti-Infective Agents Phase 1, Phase 2
44 Immunosuppressive Agents Phase 1, Phase 2
45 Antifungal Agents Phase 1, Phase 2
46 Antilymphocyte Serum Phase 1, Phase 2
47 Antimetabolites Phase 1, Phase 2
48 Antibiotics, Antitubercular Phase 1, Phase 2
49 Antimetabolites, Antineoplastic Phase 1, Phase 2
50 Antineoplastic Agents, Alkylating Phase 1, Phase 2

Interventional clinical trials:

(show all 45)
id Name Status NCT ID Phase
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
3 Gadobutrol Enhanced MRA of the Renal Arteries Completed NCT01344460 Phase 3
4 Clinical Approaches to Ileal Pouch Dysfunction Completed NCT00293553 Phase 3
5 17OHP for Reduction of Neonatal Morbidity Due to Preterm Birth (PTB) in Twin and Triplet Pregnancies Completed NCT00163020 Phase 2, Phase 3
6 An Escalating Dose Indomethacin for the Treatment of Persistent Patent Ductus Arteriosus (PDA) In Preterm Infants Terminated NCT00750581 Phase 2, Phase 3
7 Combination Chemotherapy and Total-Body Irradiation Before Donor Umbilical Cord Blood Transplant in Treating Patients With Advanced Hematologic Cancer, Metastatic Breast Cancer, or Kidney Cancer Completed NCT00365287 Phase 1, Phase 2
8 Stem Cell Transplant for Patients With Blood Malignancy Using Donors and Less Toxic Chemotherapy With CAMPATH 1H Completed NCT00048412 Phase 1, Phase 2
9 Tivantinib in Treating Patients With Relapsed, or Relapsed and Refractory Multiple Myeloma Completed NCT01447914 Phase 2
10 A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD Recruiting NCT02451696 Phase 2
11 Antibiotic "Dysbiosis" in Preterm Infants Recruiting NCT02784821 Phase 2
12 Radical Fimbriectomy for Young BRCA Mutation Carriers Active, not recruiting NCT01608074 Phase 2
13 The PRONTO Study, a Global Phase 2b Study of NEOD001 in Previously Treated Subjects With Light Chain (AL) Amyloidosis Active, not recruiting NCT02632786 Phase 2
14 Impact of the Administration of Fludrocortisone in Very Premature Infants Not yet recruiting NCT03001089 Phase 2
15 Sunitinib Malate in Treating HIV-Positive Patients With Cancer Receiving Antiretroviral Therapy Completed NCT00890747 Phase 1
16 Combination of Acetaminophen and Ibuprofen in the Management of Patent Ductus Arteriosus Recruiting NCT03103022 Phase 1
17 The Correlation Between Renal Injury and Biomarkers in Pediatric Ureteropelvic Junction Obstruction Patients Unknown status NCT01711996
18 Ureteropelvic Junction Obstruction in Early Childhood: Comparison of Surgical Therapy and Surveillance. A Prospective, Randomized, Controlled Multi-Center Study Unknown status NCT00444431
19 The Efficacy and Safety of Local Anesthetic Infusion With Ropivacaine Completed NCT00930046
20 Renal Arteries Dysplastic Aneurysms: Anatomopathological and Genetic Study Completed NCT02528149
21 Cross-sectional Study of Patients With Renal or Craniocervical Fibromuscular Dysplasia Completed NCT02884141
22 Dismembered Pyeloplasty With and Without After Coming Stent Completed NCT02138877
23 Pathophysiological Mechanisms of Fibromuscular Dysplasia Completed NCT01935752
24 CAUSE Trial: Patient Specific-Cellular Characterization of Fibromuscular Dysplasia and High-Risk Atherosclerotic Endothelium Completed NCT01808729
25 Closure of Patent Ductus Arteriosus With Indomethacin or Ibuprofen in Extreme Low Birth Weight Infants Completed NCT01758913
26 Do Elevated BNP Levels Predict Hemodynamically Significant PDAs Completed NCT01497054
27 Study of Dopamine Versus Vasopressin for Treatment of Low Blood Pressure in Low Birth Weight Infants Completed NCT01318278
28 Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment Completed NCT00499070
29 Indwelling Double-J Ureteral Stent Versus Externalized Modified-Salle Stent for Pyeloplasty Recruiting NCT02713633
30 Assessment of Renal Artery Fibromuscular Dysplasia: From Diagnosis to Treatment Recruiting NCT02586870
31 Randomized Trial of NSAID vs Placebo Prior to Ureteral Stent Removal Recruiting NCT02140970
32 Ano-genital Human Papillomavirus (HPV) Infection, Precancerous Lesions and Genital Warts Among Danish Renal Transplant Recipients Recruiting NCT03018327
33 The Study of the Prevalence Fibromuscular Dysplasia in Patient With Haematoma or Spontaneous Coronary Artery Dissection. Recruiting NCT02799186
34 A Prospective Danish National Registry of PTRA in Patients With Renovascular Hypertension Recruiting NCT02770066
35 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
36 The Natural History of Mucolipidosis Type IV Recruiting NCT01067742
37 Amniotic Biomarkers in the Prediction of Postpartum Renal Function. Active, not recruiting NCT02675686
38 Cohort Follow-up of Patients With Renal or Craniocervical Fibromuscular Dysplasia Active, not recruiting NCT02961868
39 Diagnostic Relevance of Laser Confocal Microscopy for the Screening of Upper Urinary Tract Tumors Active, not recruiting NCT02276924
40 Fludarabine Phosphate, Melphalan, Total-Body Irradiation, Donor Stem Cell Transplant in Treating Patients With Hematologic Cancer or Bone Marrow Failure Disorders Active, not recruiting NCT00856388
41 Ambulatory Blood Pressure Measurement in Children With Congenital Urine Flow Obstruction Available NCT00764543
42 Non-Endoscopic Surveillance for Barrett's Esophagus Following Ablative Therapy Enrolling by invitation NCT02106910
43 CTT on Renogram as an Early Marker of Significant Obstruction in Uretero-pelvic Junction Syndrome Not yet recruiting NCT02812212
44 Timing of PDA Closure and Respiratory Outcome in Premature Infants Terminated NCT00802685
45 Case Analysis on Real Life Incidence of Photodynamic Therapy (PDT) Safety Outcomes Withdrawn NCT01203163

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, Uterus, Testis, Pituitary, Prostate, Placenta, Heart

Publications for Renal Dysplasia

Articles related to Renal Dysplasia:

(show top 50) (show all 344)
id Title Authors Year
1
A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome. ( 28524840 )
2017
2
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
3
Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome. ( 27387476 )
2016
4
EP10.04: Congenital dwarfism with renal dysplasia: case report. ( 27645547 )
2016
5
Renal dysplasia in the neonate. ( 26849006 )
2016
6
Unilateral congenital giant megaureter with renal dysplasia compressing contralateral ureter and causing bilateral hydronephrosis: a case report and literature review. ( 26860315 )
2016
7
Stromal I^-catenin overexpression contributes to the pathogenesis of renal dysplasia. ( 26956838 )
2016
8
Renal dysplasia in Bardet-Biedl syndrome. ( 26076793 )
2015
9
The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome. ( 26316437 )
2015
10
The Syndrome of Familial Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia. ( 26710407 )
2015
11
Bilateral Renal Dysplasia, Nephroblastomatosis, and Bronchial Stenosis. A New Syndrome? ( 25871299 )
2015
12
A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome. ( 26514990 )
2015
13
Renal dysplasia. ( 25822765 )
2015
14
A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome. ( 26777049 )
2015
15
Bilateral renal dysplasia, hydronephrosis, and hydroureter in a septic neonatal foal. ( 25750445 )
2015
16
Tumoral calcinosis in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome undergoing hemodialysis. ( 25767699 )
2015
17
Potential Usefulness of 99mTc-DMSA for Radio-Guided Surgery in Pediatric Renal Dysplasia. ( 26462041 )
2015
18
The Good and Bad of I^-Catenin in Kidney Development and Renal Dysplasia. ( 26734608 )
2015
19
GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome. ( 25124981 )
2014
20
Fetal and Postnatal Magnetic Resonance Imaging of Unilateral Cystic Renal Dysplasia in a Neonate with Tuberous Sclerosis. ( 24495558 )
2014
21
Neonatal diagnosis of a patient with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome associated with cerebral infarction. ( 24859509 )
2014
22
TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia. ( 24382792 )
2014
23
Renal dysplasia with the ipsilateral ectopic ureter mimicking abscess of the prostate. ( 24665582 )
2014
24
Bilateral diffuse cystic renal dysplasia in a 9-day-old Thoroughbred filly. ( 24489392 )
2014
25
Spontaneous unilateral renal dysplasia in a clinically healthy cynomolgus monkey (Macaca fascicularis). ( 25053241 )
2014
26
Allelic variation in the canine Cox-2 promoter causes hypermethylation of the canine Cox-2 promoter in clinical cases of renal dysplasia. ( 24708682 )
2014
27
Ectopic ureter, renal dysplasia, and recurrent epididymitis in an infant: case report and review of the literature. ( 25356227 )
2014
28
Non-invasive renal artery embolization for renal dysplasia accompanied by hypertension. ( 24548196 )
2014
29
I^-catenin overexpression in the metanephric mesenchyme leads to renal dysplasia genesis via cell-autonomous and non-cell-autonomous mechanisms. ( 24637293 )
2014
30
Primary intra-renal teratoma associated with renal dysplasia: an unusual entity. ( 24426520 )
2013
31
Parathyroid hormone-independent hypercalcemia in an infant with renal dysplasia: possible role of PTHrP. ( 23327815 )
2013
32
A novel GATA3 nonsense mutation in a newly diagnosed adult patient of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. ( 23186964 )
2013
33
A rare case of renal dysplasia: prenatal and postnatal management. ( 23688419 )
2013
34
Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia. ( 23262432 )
2013
35
The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. ( 24166810 )
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
Ahsa1 and Hsp90 activity confers more severe craniofacial phenotypes in a zebrafish model of hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR). ( 23720234 )
2013
38
Transumbilical multiport laparoscopic nephroureterectomy for congenital renal dysplasia in children: midterm follow-up from a single institution. ( 24400291 )
2013
39
Renal dysplasia in grey Alpine breed cattle unrelated to CLDN16 mutations. ( 22021062 )
2012
40
Dilated ureters, renal dysplasia, and chronic renal failure in an African elephant (Loxodonta africana). ( 22448523 )
2012
41
Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay. ( 22609145 )
2012
42
Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia. ( 21922595 )
2012
43
Expression of concern: Novel allelic variants in the canine cyclooxgenase-2 (Cox-2) promoter are associated with renal dysplasia in dogs. ( 23145184 )
2012
44
Segmental renal dysplasia presenting as a solid mass on sonography. ( 22368144 )
2012
45
Pediatric hydronephrotic segmental renal dysplasia with ipsilateral ureterovesical obstruction--rare coincidence or a consequence? ( 22414265 )
2012
46
Matrilysin (MMP-7) inhibition of BMP-7 induced renal tubular branching morphogenesis suggests a role in the pathogenesis of human renal dysplasia. ( 22215634 )
2012
47
Lim1, an embryonal transcription factor, is absent in multicystic renal dysplasia, but reactivated in nephroblastomas. ( 21778788 )
2011
48
Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutation. ( 21051477 )
2011
49
Idiopathic hypercalcemia in infants with renal dysplasia. ( 21543027 )
2011
50
Novel allelic variants in the canine cyclooxgenase-2 (Cox-2) promoter are associated with renal dysplasia in dogs. ( 21346820 )
2011

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 10.49 LMX1B PAX2

GO Terms for Renal Dysplasia

Cellular components related to Renal Dysplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein-DNA complex GO:0032993 8.62 CDC5L PAX2

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.99 CDC5L GATA3 HNF1B LMX1B PAX2 SALL1
2 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.83 GATA3 HNF1B LMX1B PAX2 SALL1
3 positive regulation of transcription, DNA-templated GO:0045893 9.8 GATA3 HNF1B PAX2 SALL1
4 kidney development GO:0001822 9.58 GATA3 HNF1B SALL1
5 inner ear morphogenesis GO:0042472 9.57 GATA3 PAX2
6 branching involved in ureteric bud morphogenesis GO:0001658 9.56 PAX2 SALL1
7 cochlea development GO:0090102 9.55 GATA3 PAX2
8 ventricular septum development GO:0003281 9.52 GATA3 SALL1
9 cell fate determination GO:0001709 9.48 GATA3 PAX2
10 mesonephros development GO:0001823 9.46 GATA3 PAX2
11 mesenchymal to epithelial transition GO:0060231 9.37 GATA3 PAX2
12 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.32 PAX2 SALL1
13 pronephros development GO:0048793 9.26 HNF1B PAX2
14 ureter maturation GO:0035799 9.16 GATA3 PAX2
15 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 8.96 HNF1B PAX2
16 nephric duct formation GO:0072179 8.8 GATA3 HNF1B PAX2
17 regulation of transcription, DNA-templated GO:0006355 10.01 CDC5L GATA3 HNF1B LMX1B PAX2 SALL1

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

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.73 CDC5L GATA3 HNF1B LMX1B PAX2 SALL1
2 transcription factor activity, sequence-specific DNA binding GO:0003700 9.67 GATA3 HNF1B LMX1B SALL1
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.5 GATA3 HNF1B LMX1B
4 sequence-specific DNA binding GO:0043565 9.35 CDC5L GATA3 HNF1B LMX1B SALL1
5 core promoter proximal region sequence-specific DNA binding GO:0000987 9.16 GATA3 PAX2
6 transcription regulatory region DNA binding GO:0044212 9.02 CDC5L GATA3 HNF1B PAX2 SALL1

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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