MCID: RNL025
MIFTS: 37

Renal Hypoplasia

Categories: Nephrological diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Renal Hypoplasia

MalaCards integrated aliases for Renal Hypoplasia:

Name: Renal Hypoplasia 55 28

Characteristics:

Orphanet epidemiological data:

55
renal hypoplasia
Inheritance: Autosomal dominant,Not applicable; Age of onset: All ages; Age of death: any age;

Classifications:



External Ids:

Orphanet 55 ORPHA93101
UMLS via Orphanet 70 C2608080 C0266295
ICD10 via Orphanet 33 Q60.3 Q60.4 Q60.5

Summaries for Renal Hypoplasia

MalaCards based summary : Renal Hypoplasia is related to van maldergem syndrome 1 and vesicoureteral reflux 1. An important gene associated with Renal Hypoplasia is PAX2 (Paired Box 2), and among its related pathways/superpathways is Hippo signaling pathway - multiple species. Affiliated tissues include kidney, uterus and tongue, and related phenotypes are mortality/aging and limbs/digits/tail

Related Diseases for Renal Hypoplasia

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

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 van maldergem syndrome 1 31.3 DCHS1 FAT4
2 vesicoureteral reflux 1 29.2 PAX2 ROBO2
3 oligomeganephronic renal hypoplasia 12.3
4 renal hypoplasia, unilateral 12.0
5 renal hypoplasia, bilateral 12.0
6 ring chromosome 10 11.1
7 smith-lemli-opitz syndrome 11.0
8 stromme syndrome 11.0
9 van maldergem syndrome 2 10.9
10 cenani-lenz syndactyly syndrome 10.9
11 ritscher-schinzel syndrome 1 10.7
12 acro-pectoro-renal field defect 10.7
13 ellis yale winter syndrome 10.7
14 papillorenal syndrome 10.7
15 kidney disease 10.5
16 van maldergem syndrome 10.0 DCHS1 FAT4
17 hennekam syndrome 10.0 DCHS1 FAT4
18 periventricular nodular heterotopia 9.8 DCHS1 FAT4
19 ureteral disease 9.7 PAX2 ROBO2
20 urethritis 9.7
21 coloboma of macula 9.7
22 polydactyly 9.7
23 vaginitis 9.7
24 situs inversus 9.7
25 hydronephrosis 9.7
26 mohr syndrome 9.5
27 megacolon 9.5
28 hypoganglionosis 9.5
29 pyelonephritis 9.5
30 murcs association 9.5
31 hirschsprung disease 2 9.5
32 oligohydramnios 9.5
33 prune belly syndrome 9.5
34 posterior urethral valves 9.5
35 hypothyroidism 9.5
36 brittle bone disorder 9.5
37 urethral stricture 9.5
38 ear malformation 9.5
39 hypogonadism 9.5
40 frontonasal dysplasia 1 9.5
41 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.5
42 chromosome 2q35 duplication syndrome 9.5
43 chronic kidney failure 9.5
44 pyelitis 9.5
45 renal hypodysplasia/aplasia 1 9.5
46 end stage renal failure 9.5
47 long qt syndrome 9.5
48 glomerulonephritis 9.5
49 paraganglioma 9.5
50 cerebellar hypoplasia 9.5

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.63 DCHS1 FAT4 FMN1 GREM1 PAX2 ROBO2
2 limbs/digits/tail MP:0005371 9.56 DCHS1 FAT4 FMN1 GREM1
3 renal/urinary system MP:0005367 9.43 DCHS1 FAT4 FMN1 GREM1 PAX2 ROBO2
4 respiratory system MP:0005388 8.92 DCHS1 FAT4 GREM1 ROBO2

Drugs & Therapeutics for Renal Hypoplasia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Extracorporal Shockwave Lithotripsy Versus Retrograde Intrarenal Surgery for the Treatment of Kidney Stones Unknown status NCT01514032
2 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
3 Trial Comparing Relapse Rates Between Standard Ureteroscopic Removal Of Ureteral Stone And Standard Removal With Additional Ureterorenic Clearing Of Non-Symptomatic Stones In The Kidney Recruiting NCT02210650
4 Contrast-enhanced Ultrasound for Follow-up After Radiofrequency Ablation of Kidney Lesions Recruiting NCT01141816
5 Differences in Immunologic Response to Cryoablation Versus Radiofrequency Ablation in the Treatment of Renal Cell Carcinoma Active, not recruiting NCT03409224
6 Robot-Assisted Ultrasound for Thermal Ablative Therapy in Treating Patients With Small Kidney Masses Undergoing Surgery Withdrawn NCT02370342

Search NIH Clinical Center for Renal Hypoplasia

Genetic Tests for Renal Hypoplasia

Genetic tests related to Renal Hypoplasia:

# Genetic test Affiliating Genes
1 Renal Hypoplasia 28

Anatomical Context for Renal Hypoplasia

MalaCards organs/tissues related to Renal Hypoplasia:

38
Kidney, Uterus, Tongue, Lung, Eye, Colon, Heart

Publications for Renal Hypoplasia

Articles related to Renal Hypoplasia:

(show top 50) (show all 101)
# Title Authors Year
1
A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure. ( 29318530 )
2018
2
Osteogenesis imperfecta complicated with renal hypoplasia leads to chronic kidney disease. ( 28317307 )
2017
3
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
4
Constitutive Activation of Smoothened in the Renal Collecting Ducts Leads to Renal Hypoplasia, Hydronephrosis, and Hydroureter. ( 28564646 )
2017
5
ROBO2 gene variants in children with primary nonsyndromic vesicoureteral reflux with or without renal hypoplasia/dysplasia. ( 27002985 )
2016
6
Renal Function and Hematology in Rats with Congenital Renal Hypoplasia. ( 26884405 )
2016
7
Laparoscopic simple nephrectomy patient with situs inversus totalis and left renal hypoplasia: A case report. ( 26279730 )
2015
8
A paraganglioma in a hypertensive patient with unilateral renal hypoplasia. ( 25899634 )
2015
9
The MURCS Association: Mullerian Duct Aplasia, Renal Hypoplasia and Cervicothoracic Somite Dysplasia - A Case Report. ( 26329962 )
2015
10
Outcome following prenatal diagnosis of severe bilateral renal hypoplasia. ( 23943585 )
2013
11
Left renal hypoplasia with ureteral ectopia to the seminal vesicle. ( 24231304 )
2013
12
Brachygnathia, cardiomegaly and renal hypoplasia syndrome (BCRHS) in Merino sheep maps to a 1.1-megabase region on ovine chromosome OAR2. ( 22762779 )
2013
13
Bilateral renal hypoplasia and cystic dysplasia: a new phenotype of Thomas syndrome or a new syndrome? ( 21663390 )
2011
14
Loss of Sprouty2 partially rescues renal hypoplasia and stomach hypoganglionosis but not intestinal aganglionosis in Ret Y1062F mutant mice. ( 21070764 )
2011
15
Tessellation analysis of glomerular spatial arrangement in mice with heritable renal hypoplasia. ( 19937638 )
2010
16
Genetics of renal hypoplasia: insights into the mechanisms controlling nephron endowment. ( 20421843 )
2010
17
Deletion of Frs2alpha from the ureteric epithelium causes renal hypoplasia. ( 19741018 )
2009
18
Rescue of renal hypoplasia and cystic dysplasia in Bcl-2 -/- mice expressing Bcl-2 in ureteric bud derived epithelia. ( 18729219 )
2008
19
Misexpression of Six2 is associated with heritable frontonasal dysplasia and renal hypoplasia in 3H1 Br mice. ( 18570229 )
2008
20
Cenani-Lenz syndactyly with facial dysmorphism, hypothyroidism, and renal hypoplasia: a case report. ( 18978656 )
2008
21
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation. ( 18348270 )
2008
22
Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: dramatic variation in clinical severity in a single kindred. ( 16998226 )
2007
23
Renal hypoplasia without optic coloboma associated with PAX2 gene deletion. ( 17403695 )
2007
24
Embryonic pathogenesis of hypogonadism and renal hypoplasia in hgn/hgn rats characterized by male sterility, reduced female fertility and progressive renal insufficiency. ( 17300688 )
2007
25
Renal hypoplasia: lessons from Pax2. ( 16273412 )
2006
26
Renal hypoplasia and dysplasia: starting to put the puzzle together. ( 16959822 )
2006
27
Altered renin-angiotensin system gene expression causes renal hypoplasia in the rats with nitrofen-induced diaphragmatic hernia. ( 16292651 )
2006
28
Renal hypoplasia and situs inversus totalis. ( 15877680 )
2005
29
Unilateral renal hypoplasia associated with bicuspid aortic valve. ( 15731545 )
2005
30
Poststreptococcal acute glomerulonephritis superimposed on bilateral renal hypoplasia. ( 15960150 )
2005
31
A targeting mutation of tyrosine 1062 in Ret causes a marked decrease of enteric neurons and renal hypoplasia. ( 15340065 )
2004
32
Ureteric bud apoptosis and renal hypoplasia in transgenic PAX2-Bax fetal mice mimics the renal-coloboma syndrome. ( 14569086 )
2003
33
Greater reliability of neonatal ultrasonography in defining renal hypoplasia with antenatal hydronephrosis and vesicoureteral reflux. ( 11886600 )
2002
34
PAX2 gene mutation in a family with isolated renal hypoplasia. ( 11461952 )
2001
35
Renal hypoplasia and dysplasia in an American miniature foal. ( 11548957 )
2001
36
Immunohistochemical localization of Pax2 and associated proteins in the developing kidney of mice with renal hypoplasia. ( 11511678 )
2001
37
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
38
Retroperitoneal laparoscopic nephrectomy in the treatment of incontinence from ectopic ureter with renal hypoplasia in the child--a case report. ( 12168497 )
2001
39
Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN. ( 11260233 )
2001
40
Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice. ( 10587573 )
2000
41
New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia. ( 10748410 )
2000
42
Scalp defect, absence of nipples, ear anomalies, renal hypoplasia: another case of Finlay-Marks syndrome. ( 9383029 )
1997
43
Oligomeganephronic renal hypoplasia. ( 8922124 )
1997
44
Apoptosis during an early stage of nephrogenesis induces renal hypoplasia in bcl-2-deficient mice. ( 8623928 )
1996
45
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
46
Nondysplastic fetal renal hypoplasia associated with severe oligohydramnios: clinical, pathologic, and morphometric findings. ( 8597836 )
1995
47
Renal hypoplasia, Gartner's duct cyst and imperforated hemivagina: report of a case. ( 7858446 )
1994
48
Unilateral renal hypoplasia and contralateral renal agenesis: a new association with 45,X/46,XY mosaicism. ( 8048981 )
1994
49
A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia. ( 7837258 )
1994
50
Renal hypoplasia and postnatally acquired cortical loss in children with vesicoureteral reflux. ( 1457324 )
1992

Variations for Renal Hypoplasia

Copy number variations for Renal Hypoplasia from CNVD:

7
# 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:

# Super pathways Score Top Affiliating Genes
1 10.09 DCHS1 FAT4

GO Terms for Renal Hypoplasia

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

# 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 17)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.74 DCHS1 FAT4 ROBO2
2 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.61 DCHS1 FAT4 ROBO2
3 kidney development GO:0001822 9.58 DCHS1 FAT4 ROBO2
4 neurogenesis GO:0022008 9.56 DCHS1 FAT4
5 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.55 DCHS1 FAT4
6 heart morphogenesis GO:0003007 9.54 DCHS1 FAT4
7 limb development GO:0060173 9.52 FMN1 GREM1
8 digestive tract development GO:0048565 9.51 DCHS1 FAT4
9 cochlea development GO:0090102 9.49 DCHS1 PAX2
10 hippo signaling GO:0035329 9.48 DCHS1 FAT4
11 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.46 GREM1 PAX2
12 nephron development GO:0072006 9.37 DCHS1 FAT4
13 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.32 GREM1 PAX2
14 ossification involved in bone maturation GO:0043931 9.26 DCHS1 FAT4
15 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.16 FAT4 PAX2
16 condensed mesenchymal cell proliferation GO:0072137 8.96 DCHS1 FAT4
17 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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