MCID: RNL025
MIFTS: 39

Renal Hypoplasia

Categories: Nephrological diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Renal Hypoplasia

MalaCards integrated aliases for Renal Hypoplasia:

Name: Renal Hypoplasia 12 59 29 6

Characteristics:

Orphanet epidemiological data:

59
renal hypoplasia
Inheritance: Autosomal dominant,Not applicable; Age of onset: All ages; Age of death: any age;

Classifications:



External Ids:

Disease Ontology 12 DOID:0080204
Orphanet 59 ORPHA93101
UMLS via Orphanet 74 C0266295 C2608080
ICD10 via Orphanet 34 Q60.3 Q60.4 Q60.5

Summaries for Renal Hypoplasia

Disease Ontology : 12 A kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons.

MalaCards based summary : Renal Hypoplasia is related to van maldergem syndrome 1 and vesicoureteral reflux 1. An important gene associated with Renal Hypoplasia is PRMT7 (Protein Arginine Methyltransferase 7), and among its related pathways/superpathways is Hippo signaling pathway - multiple species. Affiliated tissues include kidney, uterus and tongue, and related phenotypes are cardiovascular system and cellular

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 58)
# Related Disease Score Top Affiliating Genes
1 van maldergem syndrome 1 31.7 DCHS1 FAT4
2 vesicoureteral reflux 1 29.6 PAX2 ROBO2
3 renal hypodysplasia/aplasia 1 29.1 EYA1 PAX2
4 renal hypoplasia, unilateral 12.0
5 renal hypoplasia, bilateral 12.0
6 oligomeganephronia 12.0
7 papillorenal syndrome 11.3
8 ring chromosome 10 11.0
9 stromme syndrome 11.0
10 smith-lemli-opitz syndrome 11.0
11 cenani-lenz syndactyly syndrome 10.9
12 van maldergem syndrome 2 10.9
13 ritscher-schinzel syndrome 1 10.7
14 acro-pectoro-renal field defect 10.7
15 ellis yale winter syndrome 10.7
16 kidney disease 10.5
17 van maldergem syndrome 10.2 DCHS1 FAT4
18 hennekam syndrome 10.2 DCHS1 FAT4
19 deafness, autosomal dominant 10 10.2 EYA1 PAX2
20 branchiootorenal syndrome 10.1 EYA1 PAX2
21 ureteral disease 10.1 PAX2 ROBO2
22 polydactyly 9.7
23 hydronephrosis 9.7
24 urethritis 9.7
25 vaginitis 9.7
26 situs inversus 9.7
27 dextrocardia with situs inversus 9.7
28 periventricular nodular heterotopia 9.7 DCHS1 FAT4
29 prune belly syndrome 9.5
30 ear malformation 9.5
31 frontonasal dysplasia 1 9.5
32 cerebellar hypoplasia 9.5
33 mohr syndrome 9.5
34 hirschsprung disease 2 9.5
35 brittle bone disorder 9.5
36 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.5
37 chronic kidney failure 9.5
38 end stage renal failure 9.5
39 glomerulonephritis 9.5
40 paraganglioma 9.5
41 porencephaly 9.5
42 interstitial nephritis 9.5
43 renal hypertension 9.5
44 megacolon 9.5
45 pyelonephritis 9.5
46 oligohydramnios 9.5
47 hypothyroidism 9.5
48 urethral stricture 9.5
49 hypogonadism 9.5
50 pyelitis 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:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.97 DCHS1 EYA1 FAT4 PAX2 PRMT7 ROBO2
2 cellular MP:0005384 9.95 EYA1 FAT4 FMN1 GREM1 PAX2 ROBO2
3 embryo MP:0005380 9.93 GREM1 PAX2 PRMT7 DCHS1 EYA1 FAT4
4 mortality/aging MP:0010768 9.91 DCHS1 EYA1 FAT4 FMN1 GREM1 PAX2
5 nervous system MP:0003631 9.87 DCHS1 EYA1 FAT4 GREM1 PAX2 PRMT7
6 renal/urinary system MP:0005367 9.8 DCHS1 EYA1 FAT4 FMN1 GREM1 PAX2
7 hearing/vestibular/ear MP:0005377 9.73 EYA1 FAT4 PAX2 DCHS1
8 limbs/digits/tail MP:0005371 9.71 DCHS1 FAT4 FMN1 GREM1
9 reproductive system MP:0005389 9.55 EYA1 FMN1 GREM1 PAX2 ROBO2
10 respiratory system MP:0005388 9.35 DCHS1 EYA1 FAT4 GREM1 ROBO2
11 skeleton MP:0005390 9.1 DCHS1 EYA1 FAT4 FMN1 GREM1 PRMT7

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 Not Applicable
2 Are the Stone Density and Location Useful Parameters for Small Kidney Stones? Completed NCT03503539 Not Applicable
3 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 Not Applicable
4 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 Not Applicable
5 Contrast-enhanced Ultrasound for Follow-up After Radiofrequency Ablation of Kidney Lesions Recruiting NCT01141816 Not Applicable
6 Differences in Immunologic Response to Cryoablation Versus Radiofrequency Ablation in the Treatment of Renal Cell Carcinoma Active, not recruiting NCT03409224
7 Robot-Assisted Ultrasound for Thermal Ablative Therapy in Treating Patients With Small Kidney Masses Undergoing Surgery Withdrawn NCT02370342 Not Applicable

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 29

Anatomical Context for Renal Hypoplasia

MalaCards organs/tissues related to Renal Hypoplasia:

41
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
Renal Function and Hematology in Rats with Congenital Renal Hypoplasia. ( 26884405 )
2016
6
ROBO2 gene variants in children with primary nonsyndromic vesicoureteral reflux with or without renal hypoplasia/dysplasia. ( 27002985 )
2016
7
A paraganglioma in a hypertensive patient with unilateral renal hypoplasia. ( 25899634 )
2015
8
The MURCS Association: Mullerian Duct Aplasia, Renal Hypoplasia and Cervicothoracic Somite Dysplasia - A Case Report. ( 26329962 )
2015
9
Laparoscopic simple nephrectomy patient with situs inversus totalis and left renal hypoplasia: A case report. ( 26279730 )
2015
10
Brachygnathia, cardiomegaly and renal hypoplasia syndrome (BCRHS) in Merino sheep maps to a 1.1-megabase region on ovine chromosome OAR2. ( 22762779 )
2013
11
Left renal hypoplasia with ureteral ectopia to the seminal vesicle. ( 24231304 )
2013
12
Outcome following prenatal diagnosis of severe bilateral renal hypoplasia. ( 23943585 )
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
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation. ( 18348270 )
2008
19
Cenani-Lenz syndactyly with facial dysmorphism, hypothyroidism, and renal hypoplasia: a case report. ( 18978656 )
2008
20
Rescue of renal hypoplasia and cystic dysplasia in Bcl-2 -/- mice expressing Bcl-2 in ureteric bud derived epithelia. ( 18729219 )
2008
21
Misexpression of Six2 is associated with heritable frontonasal dysplasia and renal hypoplasia in 3H1 Br mice. ( 18570229 )
2008
22
Autosomal dominant inheritance of non-syndromic renal hypoplasia and dysplasia: dramatic variation in clinical severity in a single kindred. ( 16998226 )
2007
23
Embryonic pathogenesis of hypogonadism and renal hypoplasia in hgn/hgn rats characterized by male sterility, reduced female fertility and progressive renal insufficiency. ( 17300688 )
2007
24
Renal hypoplasia without optic coloboma associated with PAX2 gene deletion. ( 17403695 )
2007
25
Renal hypoplasia and dysplasia: starting to put the puzzle together. ( 16959822 )
2006
26
Renal hypoplasia: lessons from Pax2. ( 16273412 )
2006
27
Altered renin-angiotensin system gene expression causes renal hypoplasia in the rats with nitrofen-induced diaphragmatic hernia. ( 16292651 )
2006
28
Poststreptococcal acute glomerulonephritis superimposed on bilateral renal hypoplasia. ( 15960150 )
2005
29
Renal hypoplasia and situs inversus totalis. ( 15877680 )
2005
30
Unilateral renal hypoplasia associated with bicuspid aortic valve. ( 15731545 )
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
Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN. ( 11260233 )
2001
35
Renal hypoplasia and dysplasia in an American miniature foal. ( 11548957 )
2001
36
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
37
PAX2 gene mutation in a family with isolated renal hypoplasia. ( 11461952 )
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
Immunohistochemical localization of Pax2 and associated proteins in the developing kidney of mice with renal hypoplasia. ( 11511678 )
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
Unilateral renal hypoplasia and contralateral renal agenesis: a new association with 45,X/46,XY mosaicism. ( 8048981 )
1994
48
A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia. ( 7837258 )
1994
49
Renal hypoplasia, Gartner's duct cyst and imperforated hemivagina: report of a case. ( 7858446 )
1994
50
Renal hypoplasia and postnatally acquired cortical loss in children with vesicoureteral reflux. ( 1457324 )
1992

Variations for Renal Hypoplasia

ClinVar genetic disease variations for Renal Hypoplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EYA1 NM_172058.3(EYA1): c.121G> C (p.Glu41Gln) single nucleotide variant Uncertain significance rs561111097 GRCh38 Chromosome 8, 71354785: 71354785
2 EYA1 NM_172058.3(EYA1): c.121G> C (p.Glu41Gln) single nucleotide variant Uncertain significance rs561111097 GRCh37 Chromosome 8, 72267020: 72267020
3 KAT6B NM_012330.3(KAT6B): c.3399_3402delGGGT (p.Arg1133Serfs) deletion Likely pathogenic GRCh37 Chromosome 10, 76784742: 76784745
4 KAT6B NM_012330.3(KAT6B): c.3399_3402delGGGT (p.Arg1133Serfs) deletion Likely pathogenic GRCh38 Chromosome 10, 75024984: 75024987
5 PRMT7 NM_001290018.1(PRMT7): c.322G> T (p.Glu108Ter) single nucleotide variant Pathogenic rs1014959895 GRCh37 Chromosome 16, 68363008: 68363008
6 PRMT7 NM_001290018.1(PRMT7): c.322G> T (p.Glu108Ter) single nucleotide variant Pathogenic rs1014959895 GRCh38 Chromosome 16, 68329105: 68329105
7 PRMT7 NM_001290018.1(PRMT7): c.1713C> A (p.Cys571Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 68389688: 68389688
8 PRMT7 NM_001290018.1(PRMT7): c.1713C> A (p.Cys571Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 68355785: 68355785

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 8.96 DCHS1 FAT4
2 protein-DNA complex GO:0032993 8.62 EYA1 PAX2

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.92 EYA1 PAX2 PRMT7 ROBO2
2 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.63 DCHS1 FAT4 ROBO2
3 neurogenesis GO:0022008 9.61 DCHS1 FAT4
4 inner ear morphogenesis GO:0042472 9.61 EYA1 PAX2
5 kidney development GO:0001822 9.61 DCHS1 FAT4 ROBO2
6 positive regulation of epithelial cell proliferation GO:0050679 9.6 EYA1 PAX2
7 pattern specification process GO:0007389 9.59 DCHS1 EYA1
8 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.58 DCHS1 FAT4
9 heart morphogenesis GO:0003007 9.58 DCHS1 FAT4
10 ureteric bud development GO:0001657 9.57 EYA1 ROBO2
11 digestive tract development GO:0048565 9.56 DCHS1 FAT4
12 limb development GO:0060173 9.55 FMN1 GREM1
13 metanephros development GO:0001656 9.54 EYA1 ROBO2
14 hippo signaling GO:0035329 9.52 DCHS1 FAT4
15 cochlea development GO:0090102 9.51 DCHS1 PAX2
16 cochlea morphogenesis GO:0090103 9.49 EYA1 PAX2
17 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.48 GREM1 PAX2
18 nephron development GO:0072006 9.4 DCHS1 FAT4
19 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.37 GREM1 PAX2
20 ossification involved in bone maturation GO:0043931 9.32 DCHS1 FAT4
21 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.26 FAT4 PAX2
22 mesodermal cell fate specification GO:0007501 9.16 EYA1 PAX2
23 branching involved in ureteric bud morphogenesis GO:0001658 9.02 DCHS1 EYA1 FAT4 GREM1 PAX2
24 condensed mesenchymal cell proliferation GO:0072137 8.96 DCHS1 FAT4

Sources for Renal Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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