MCID: RNL025
MIFTS: 42

Renal Hypoplasia malady

Categories: Nephrological diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Renal Hypoplasia

Aliases & Descriptions for Renal Hypoplasia:

Name: Renal Hypoplasia 56 29

Characteristics:

Orphanet epidemiological data:

56
renal hypoplasia
Inheritance: Autosomal dominant,Not applicable; Age of onset: All ages; Age of death: any age;

Classifications:



External Ids:

Orphanet 56 ORPHA93101
ICD10 via Orphanet 34 Q60.3 Q60.4 Q60.5

Summaries for Renal Hypoplasia

MalaCards based summary : Renal Hypoplasia is related to oligomeganephronic renal hypoplasia and renal hypoplasia, unilateral. An important gene associated with Renal Hypoplasia is PAX2 (Paired Box 2), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Hippo signaling pathway -multiple species. The drugs Cyclophosphamide and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include kidney, uterus and tongue, and related phenotypes are embryo and limbs/digits/tail

Related Diseases for Renal Hypoplasia

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



Diseases related to Renal Hypoplasia

Symptoms & Phenotypes for Renal Hypoplasia

MGI Mouse Phenotypes related to Renal Hypoplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.62 FAT4 GREM1 PAX2 DCHS1
2 limbs/digits/tail MP:0005371 9.46 FAT4 FMN1 GREM1 DCHS1
3 hearing/vestibular/ear MP:0005377 9.43 FAT4 PAX2 DCHS1
4 renal/urinary system MP:0005367 9.35 FAT4 FMN1 GREM1 PAX2 DCHS1
5 skeleton MP:0005390 8.92 DCHS1 FAT4 FMN1 GREM1

Drugs & Therapeutics for Renal Hypoplasia

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

(show top 50) (show all 98)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2, Phase 3, Phase 1 50-18-0, 6055-19-2 2907
2
Fludarabine Approved Phase 2, Phase 3, Phase 1 21679-14-1, 75607-67-9 30751
3
Vidarabine Approved Phase 2, Phase 3,Phase 1 24356-66-9 32326 21704
4
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1 55-98-1 2478
5
alemtuzumab Approved, Investigational Phase 2, Phase 3,Phase 1 216503-57-0
6
Mycophenolic acid Approved Phase 2, Phase 3,Phase 1 24280-93-1 446541
7
Mycophenolate mofetil Approved, Investigational Phase 2, Phase 3,Phase 1 128794-94-5 5281078
8
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 1 22916-47-8 4189
9
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177
10
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
11 Alkylating Agents Phase 2, Phase 3, Phase 1
12 Anti-Infective Agents Phase 2, Phase 3, Phase 1
13 Immunosuppressive Agents Phase 2, Phase 3, Phase 1
14 Antimetabolites Phase 2, Phase 3, Phase 1
15 Antimetabolites, Antineoplastic Phase 2, Phase 3, Phase 1
16 Antirheumatic Agents Phase 2, Phase 3, Phase 1
17 Antineoplastic Agents, Alkylating Phase 2, Phase 3, Phase 1
18 Antiviral Agents Phase 2, Phase 3,Phase 1
19 Anti-Bacterial Agents Phase 2, Phase 3,Phase 1
20 Antifungal Agents Phase 2, Phase 3,Phase 1
21 Antibiotics, Antitubercular Phase 2, Phase 3,Phase 1
22
Melphalan Approved Phase 2 148-82-3 4053 460612
23
Iron Approved Phase 2 7439-89-6 23925
24
Prednisolone Approved, Vet_approved Phase 2,Phase 1 50-24-8 5755
25
Lenograstim Approved Phase 1, Phase 2 135968-09-1
26
Methylprednisolone Approved, Vet_approved Phase 2,Phase 1 83-43-2 6741
27
Cyclosporine Approved, Investigational, Vet_approved Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
28
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
29
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
30
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
31 Prednisolone acetate Phase 2,Phase 1
32 glucocorticoids Phase 2,Phase 1
33 Gastrointestinal Agents Phase 2,Phase 1
34 Neuroprotective Agents Phase 2,Phase 1
35 Hormone Antagonists Phase 2,Phase 1
36 Hormones Phase 2,Phase 1
37 Peripheral Nervous System Agents Phase 2,Phase 1
38 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2,Phase 1
39 Prednisolone hemisuccinate Phase 2,Phase 1
40 Prednisolone phosphate Phase 2,Phase 1
41 Protective Agents Phase 2,Phase 1
42 Antiemetics Phase 2,Phase 1
43 Anti-Inflammatory Agents Phase 2,Phase 1
44 Antilymphocyte Serum Phase 2,Phase 1
45 Methylprednisolone acetate Phase 2,Phase 1
46 Methylprednisolone Hemisuccinate Phase 2,Phase 1
47 Autonomic Agents Phase 2,Phase 1
48 Antineoplastic Agents, Hormonal Phase 2,Phase 1
49 Chelating Agents Phase 2
50 Adjuvants, Immunologic Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 72)
id Name Status NCT ID Phase
1 Fanconi Syndrome Due to ARVs in HIV-Infected Persons Completed NCT00499187 Phase 4
2 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3
3 Prophylactic Peritoneal Dialysis Decreases Time to Achieve a Negative Fluid Balance After the Norwood Procedure Completed NCT01215240 Phase 3
4 TBI Dose De-escalation for Fanconi Anemia Recruiting NCT00352976 Phase 2, Phase 3
5 Umbilical Cord Blood for Stem Cell Transplantation in Treating Young Patients With Malignant or Nonmalignant Diseases Unknown status NCT00084695 Phase 2
6 Medical Treatment for Diamond Blackfan Anemia Completed NCT00001749 Phase 2
7 Multicenter Transplant Study for Fanconi Anemia Completed NCT01082133 Phase 2
8 Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and AMD3100 Completed NCT00479115 Phase 1, Phase 2
9 Phase I/II Study of Total Body Irradiation, Cyclophosphamide, and Fludarabine Followed by Alternate Donor Hematopoietic Cell Transplantation in Patients With Fanconi's Anemia Completed NCT00005898 Phase 1, Phase 2
10 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2
11 Busulfan, Antithymocyte Globulin, and Fludarabine Followed By a Donor Stem Cell Transplant in Treating Young Patients With Blood Disorders, Bone Marrow Disorders, Chronic Myelogenous Leukemia in First Chronic Phase, or Acute Myeloid Leukemia in First Remi Completed NCT00305708 Phase 1, Phase 2
12 Study of Deferasirox in Iron Overload From Beta-thalassemia Unable to be Treated With Deferoxamine or Chronic Anemias Completed NCT00061763 Phase 2
13 Cord Blood Stem Cell Transplantation Study (COBLT) Completed NCT00000603 Phase 2
14 HSCT for Patients With Fanconi Anemia Using Risk-Adjusted Chemotherapy Recruiting NCT02143830 Phase 2
15 Lentiviral-mediated Gene Therapy of Fanconi Anemia Patients Subtype A Recruiting NCT03157804 Phase 1, Phase 2
16 Clinical Phase II Trial to Evaluate CD34+ Cells Mobilization and Collection in Patients With Fanconi Anemia for Subsequent Transduction With a Lentiviral Vector Carring FANCA Gene. FANCOSTEM-1 Recruiting NCT02931071 Phase 2
17 Mobilization and Collection of Peripheral Blood Stem Cells in Patients With Fanconi Anemia Using G-CSF and Plerixafor Recruiting NCT02678533 Phase 1, Phase 2
18 Cytoxan, Fludara, and Antithymocyte Globulin Conditioning Followed By Stem Cell Transplant in Treating Fanconi Anemia Recruiting NCT00630253 Phase 1, Phase 2
19 Hematopoietic Stem Cell Transplantation in High Risk Patients With Fanconi Anemia Recruiting NCT00258427 Phase 2
20 Horse ATG/CsA in Aplastic Anemia Patients Unresponsive to or With a Suboptimal Response to Rabbit ATG/CsA Treatment Active, not recruiting NCT00944749 Phase 2
21 Hematopoietic Stem Cell Transplant for Fanconi Anemia Active, not recruiting NCT01071239 Phase 2
22 Hematopoietic Stem Cell Transplantation for the Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using a Chemotherapy Only Cytoreduction With Busulfan, Cyclophosphamide and Fludarabine Active, not recruiting NCT00987480 Phase 2
23 Fludarabine Phosphate, Cyclophosphamide, and Total-Body Irradiation Followed by Donor Bone Marrow Transplant, Mycophenolate Mofetil, and Cyclosporine in Treating Patients With Fanconi Anemia Active, not recruiting NCT00453388 Phase 2
24 Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2
25 Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells Terminated NCT02512679 Phase 2
26 Stem Cell Transplantation for Fanconi Anemia Terminated NCT00167206 Phase 1, Phase 2
27 Antibody Conditioning Regimen For Allogeneic Donor Stem Cell Transplantation Of Patients With Fanconi Anemia Terminated NCT00590460 Phase 1, Phase 2
28 Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery Withdrawn NCT00770705 Phase 2
29 Phase I Study of Amifostine in Patients With Bone Marrow Failure Related to Fanconi's Anemia Unknown status NCT00006127 Phase 1
30 Phase I Pilot Study of CD34 Enriched, Fanconi's Anemia Complementation Group C Gene Transduced Autologous Peripheral Blood Stem Cell Transplantation in Patients With Fanconi's Anemia Unknown status NCT00005896 Phase 1
31 Gene Therapy for the Treatment of Fanconi's Anemia Type C Completed NCT00001399 Phase 1
32 Cyclophosphamide in Treating Patients Who Are Undergoing a Donor Bone Marrow Transplant for Fanconi's Anemia Completed NCT00317876 Phase 1
33 Bone Marrow Cell Gene Transfer in Individuals With Fanconi Anemia Completed NCT00272857 Phase 1
34 Oxandrolone for the Treatment of Bone Marrow Aplasia in Fanconi Anemia Completed NCT00243399 Phase 1
35 Low-Dose Total-Body Irradiation and Fludarabine Phosphate Followed by Unrelated Donor Stem Cell Transplant in Treating Patients With Fanconi Anemia Completed NCT00093743 Phase 1
36 Quercetin in Children With Fanconi Anemia; a Pilot Study Recruiting NCT01720147 Phase 1
37 Gene Therapy for Fanconi Anemia Recruiting NCT01331018 Phase 1
38 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1
39 Use of Rft5-Dga to Deplete Alloreactive Cells for Pts With Fanconi Anemia After Haploidentical SCT Terminated NCT00586274 Phase 1
40 Extracorporal Shockwave Lithotripsy Versus Retrograde Intrarenal Surgery for the Treatment of Kidney Stones Unknown status NCT01514032
41 Multi-Center Study of Iron Overload: Pilot Study Unknown status NCT01114776
42 Multi-Center Study of Iron Overload: Survey Study (MCSIO) Unknown status NCT01913548
43 Study of Fludarabine Drug Exposure in Pediatric Bone Marrow Transplantation Unknown status NCT01316549
44 A Feasibility Study for a Multicentre Randomised Controlled Trial to Compare Surgery With Needle Ablation Techniques in People With Small Renal Masses (4cm) Completed NCT01608165
45 Modified Perfusion for Neonatal Aortic Arch Reconstruction Completed NCT00490256
46 Evaluation of Fanconi Syndrome and Cystinosis Completed NCT00004350
47 Pilot Study of Etanercept (Enbrel) in Children With Fanconi Anemia Completed NCT00965666
48 Tissue Sample Collection From Patients With Fanconi Anemia Completed NCT00899522
49 Hematopoietic Stem Cell Transplantation for Treatment of Patients With Fanconi Anemia Lacking a Genotypically Identical Donor, Using Total Body Irradiation, Cyclophosphamide and Fludarabine Completed NCT00595127
50 Blood Cell Collection for Future Use in Individuals With Fanconi Anemia Completed NCT00271089

Search NIH Clinical Center for Renal Hypoplasia

Genetic Tests for Renal Hypoplasia

Genetic tests related to Renal Hypoplasia:

id Genetic test Affiliating Genes
1 Renal Hypoplasia 29

Anatomical Context for Renal Hypoplasia

MalaCards organs/tissues related to Renal Hypoplasia:

39
Kidney, Uterus, Tongue, Lung, Eye, Colon, Heart

Publications for Renal Hypoplasia

Articles related to Renal Hypoplasia:

(show top 50) (show all 98)
id Title Authors Year
1
A case of a surviving co-twin diagnosed with porencephaly and renal hypoplasia after a single intrauterine fetal death at 21 weeks of gestation in a monochorionic monoamniotic twin pregnancy. ( 28116109 )
2017
2
ROBO2 gene variants in children with primary nonsyndromic vesicoureteral reflux with or without renal hypoplasia/dysplasia. ( 27002985 )
2016
3
Renal Function and Hematology in Rats with Congenital Renal Hypoplasia. ( 26884405 )
2016
4
Laparoscopic simple nephrectomy patient with situs inversus totalis and left renal hypoplasia: A case report. ( 26279730 )
2015
5
The MURCS Association: Mullerian Duct Aplasia, Renal Hypoplasia and Cervicothoracic Somite Dysplasia - A Case Report. ( 26329962 )
2015
6
A paraganglioma in a hypertensive patient with unilateral renal hypoplasia. ( 25899634 )
2015
7
Brachygnathia, cardiomegaly and renal hypoplasia syndrome (BCRHS) in Merino sheep maps to a 1.1-megabase region on ovine chromosome OAR2. ( 22762779 )
2013
8
Outcome following prenatal diagnosis of severe bilateral renal hypoplasia. ( 23943585 )
2013
9
Left renal hypoplasia with ureteral ectopia to the seminal vesicle. ( 24231304 )
2013
10
Loss of Sprouty2 partially rescues renal hypoplasia and stomach hypoganglionosis but not intestinal aganglionosis in Ret Y1062F mutant mice. ( 21070764 )
2011
11
Bilateral renal hypoplasia and cystic dysplasia: a new phenotype of Thomas syndrome or a new syndrome? ( 21663390 )
2011
12
Tessellation analysis of glomerular spatial arrangement in mice with heritable renal hypoplasia. ( 19937638 )
2010
13
Genetics of renal hypoplasia: insights into the mechanisms controlling nephron endowment. ( 20421843 )
2010
14
Deletion of Frs2alpha from the ureteric epithelium causes renal hypoplasia. ( 19741018 )
2009
15
Rescue of renal hypoplasia and cystic dysplasia in Bcl-2 -/- mice expressing Bcl-2 in ureteric bud derived epithelia. ( 18729219 )
2008
16
Misexpression of Six2 is associated with heritable frontonasal dysplasia and renal hypoplasia in 3H1 Br mice. ( 18570229 )
2008
17
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation. ( 18348270 )
2008
18
Cenani-Lenz syndactyly with facial dysmorphism, hypothyroidism, and renal hypoplasia: a case report. ( 18978656 )
2008
19
Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: dramatic variation in clinical severity in a single kindred. ( 16998226 )
2007
20
Embryonic pathogenesis of hypogonadism and renal hypoplasia in hgn/hgn rats characterized by male sterility, reduced female fertility and progressive renal insufficiency. ( 17300688 )
2007
21
Renal hypoplasia without optic coloboma associated with PAX2 gene deletion. ( 17403695 )
2007
22
Altered renin-angiotensin system gene expression causes renal hypoplasia in the rats with nitrofen-induced diaphragmatic hernia. ( 16292651 )
2006
23
Renal hypoplasia and dysplasia: starting to put the puzzle together. ( 16959822 )
2006
24
Renal hypoplasia: lessons from Pax2. ( 16273412 )
2006
25
Unilateral renal hypoplasia associated with bicuspid aortic valve. ( 15731545 )
2005
26
Renal hypoplasia and situs inversus totalis. ( 15877680 )
2005
27
Poststreptococcal acute glomerulonephritis superimposed on bilateral renal hypoplasia. ( 15960150 )
2005
28
A targeting mutation of tyrosine 1062 in Ret causes a marked decrease of enteric neurons and renal hypoplasia. ( 15340065 )
2004
29
Ureteric bud apoptosis and renal hypoplasia in transgenic PAX2-Bax fetal mice mimics the renal-coloboma syndrome. ( 14569086 )
2003
30
Greater reliability of neonatal ultrasonography in defining renal hypoplasia with antenatal hydronephrosis and vesicoureteral reflux. ( 11886600 )
2002
31
Retroperitoneal laparoscopic nephrectomy in the treatment of incontinence from ectopic ureter with renal hypoplasia in the child--a case report. ( 12168497 )
2001
32
PAX2 gene mutation in a family with isolated renal hypoplasia. ( 11461952 )
2001
33
Single vaginal ectopic ureter and renal hypoplasia associated with urogenital sinus and abdominal muscular hypoplasia-a novel subtype of prune-belly syndrome in a female child? ( 11337307 )
2001
34
Immunohistochemical localization of Pax2 and associated proteins in the developing kidney of mice with renal hypoplasia. ( 11511678 )
2001
35
Renal hypoplasia and dysplasia in an American miniature foal. ( 11548957 )
2001
36
Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN. ( 11260233 )
2001
37
New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia. ( 10748410 )
2000
38
Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice. ( 10587573 )
2000
39
Oligomeganephronic renal hypoplasia. ( 8922124 )
1997
40
Scalp defect, absence of nipples, ear anomalies, renal hypoplasia: another case of Finlay-Marks syndrome. ( 9383029 )
1997
41
Apoptosis during an early stage of nephrogenesis induces renal hypoplasia in bcl-2-deficient mice. ( 8623928 )
1996
42
Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: a clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata. ( 8655131 )
1996
43
Nondysplastic fetal renal hypoplasia associated with severe oligohydramnios: clinical, pathologic, and morphometric findings. ( 8597836 )
1995
44
A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia. ( 7837258 )
1994
45
Renal hypoplasia, Gartner's duct cyst and imperforated hemivagina: report of a case. ( 7858446 )
1994
46
Unilateral renal hypoplasia and contralateral renal agenesis: a new association with 45,X/46,XY mosaicism. ( 8048981 )
1994
47
Renal hypoplasia and postnatally acquired cortical loss in children with vesicoureteral reflux. ( 1457324 )
1992
48
Segmental renal hypoplasia of vascular origin causing renal hypertension in a 3-year-old girl. ( 1875502 )
1991
49
Tubular colonic duplication combined with unilateral renal hypoplasia. ( 1962633 )
1991
50
Unilateral renal hypoplasia as an incidental finding in a patient with a ruptured heel cord. ( 3230261 )
1988

Variations for Renal Hypoplasia

Copy number variations for Renal Hypoplasia from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 38370 10 102000000 111800000 Copy number PAX2 renal hypoplasia

Expression for Renal Hypoplasia

Search GEO for disease gene expression data for Renal Hypoplasia.

Pathways for Renal Hypoplasia

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

id Super pathways Score Top Affiliating Genes
1 11.21 GREM1 PAX2
2 10.09 DCHS1 FAT4

GO Terms for Renal Hypoplasia

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

id Name GO ID Score Top Affiliating Genes
1 apical part of cell GO:0045177 8.62 DCHS1 FAT4

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.56 DCHS1 FAT4
2 kidney development GO:0001822 9.55 DCHS1 FAT4
3 neurogenesis GO:0022008 9.54 DCHS1 FAT4
4 heart morphogenesis GO:0003007 9.52 DCHS1 FAT4
5 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.51 DCHS1 FAT4
6 limb development GO:0060173 9.49 FMN1 GREM1
7 digestive tract development GO:0048565 9.48 DCHS1 FAT4
8 cochlea development GO:0090102 9.46 DCHS1 PAX2
9 hippo signaling GO:0035329 9.43 DCHS1 FAT4
10 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.4 GREM1 PAX2
11 nephron development GO:0072006 9.37 DCHS1 FAT4
12 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.32 GREM1 PAX2
13 ossification involved in bone maturation GO:0043931 9.26 DCHS1 FAT4
14 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.16 FAT4 PAX2
15 condensed mesenchymal cell proliferation GO:0072137 8.96 DCHS1 FAT4
16 branching involved in ureteric bud morphogenesis GO:0001658 8.92 DCHS1 FAT4 GREM1 PAX2

Sources for Renal Hypoplasia

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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