MCID: RNL025
MIFTS: 43

Renal Hypoplasia

Categories: Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Renal Hypoplasia

MalaCards integrated aliases for Renal Hypoplasia:

Name: Renal Hypoplasia 12 58 29 6 15

Characteristics:

Orphanet epidemiological data:

58
renal hypoplasia
Inheritance: Autosomal dominant,Not applicable; Age of onset: All ages; Age of death: any age;

Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080204
ICD10 via Orphanet 33 Q60.3 Q60.4 Q60.5
UMLS via Orphanet 72 C0266295 C2608080
Orphanet 58 ORPHA93101

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 oligomeganephronia and van maldergem syndrome 1. An important gene associated with Renal Hypoplasia is PRMT7 (Protein Arginine Methyltransferase 7), and among its related pathways/superpathways are Human Embryonic Stem Cell Pluripotency and WNT Signaling. Affiliated tissues include kidney, heart and colon, and related phenotypes are mortality/aging and cardiovascular system

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 129)
# Related Disease Score Top Affiliating Genes
1 oligomeganephronia 33.8 PAX2 HNF1B EYA1
2 van maldergem syndrome 1 32.4 FAT4 DCHS1
3 coloboma of macula 30.1 SALL1 PAX2 FREM2 EYA1
4 papillorenal syndrome 29.9 SIX2 SIX1 SALL1 ROBO2 PAX2 HNF1B
5 chromosome 2q35 duplication syndrome 29.9 SALL1 GREM1 FREM2
6 renal dysplasia 29.8 SALL1 PAX2 HNF1B GDNF
7 prune belly syndrome 29.7 SALL1 PAX2 HNF1B
8 kidney disease 29.5 SIX1 PAX2 HNF1B GREM1 EYA1
9 cystic kidney disease 29.5 WNT9B PAX2 HNF1B FAT4
10 wilms tumor 1 29.0 WNT4 SIX2 SIX1 PAX2 EYA1
11 vesicoureteral reflux 1 28.1 WNT9B WNT11 SIX2 SIX1 SALL1 ROBO2
12 renal hypodysplasia/aplasia 1 27.3 WNT9B WNT4 WNT11 SIX2 SIX1 SALL1
13 cakut 26.7 WNT9B WNT4 WNT11 SIX2 SIX1 SALL1
14 renal hypoplasia, unilateral 12.4
15 renal hypoplasia, bilateral 12.4
16 smith-lemli-opitz syndrome 11.6
17 cenani-lenz syndactyly syndrome 11.5
18 stromme syndrome 11.3
19 van maldergem syndrome 2 11.2
20 ritscher-schinzel syndrome 1 11.0
21 split-hand/foot malformation 3 11.0
22 ellis yale winter syndrome 11.0
23 tetrasomy 9p 11.0
24 van maldergem syndrome 10.4 FAT4 DCHS1
25 acrorenal syndrome 10.4 FREM2 FMN1
26 congenital anomalies of kidney and urinary tract 2 10.3 ROBO2 PAX2 EYA1
27 branchiootorenal spectrum disorder 10.3 SIX1 EYA1
28 branchiootorenal syndrome 1 10.2 SIX1 EYA1
29 endometrial clear cell adenocarcinoma 10.2 PAX2 HNF1B
30 lacrimal duct obstruction 10.2 SIX1 EYA1
31 deafness, autosomal dominant 23 10.1 SIX1 EYA1
32 telecanthus 10.1 SALL1 KAT6B
33 synostosis 10.0 GREM1 FREM2 FMN1
34 polydactyly 10.0
35 pyelonephritis 10.0
36 hydronephrosis 10.0
37 oligohydramnios 10.0
38 chronic kidney disease 10.0
39 deafness, autosomal dominant 10 10.0 SIX1 EYA1
40 norrie disease 9.9 WNT4 WNT11 GREM1
41 end stage renal failure 9.9
42 pax2-related disorder 9.9
43 autosomal dominant nonsyndromic deafness 9.9 SIX1 FMN1 EYA1
44 orofacial cleft 9.9 WNT9B WNT11 GREM1 EYA1
45 diaphragmatic hernia, congenital 9.8
46 pulmonary hypertension 9.8
47 malignant hypertension 9.8
48 acute cystitis 9.8
49 glomerulonephritis 9.8
50 holoprosencephaly 9.8

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:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.36 DCHS1 DDX54 EYA1 FAT4 FMN1 FREM2
2 cardiovascular system MP:0005385 10.35 DCHS1 DDX54 EYA1 FAT4 FREM2 GDNF
3 growth/size/body region MP:0005378 10.32 DCHS1 DDX54 EYA1 FAT4 FREM2 GDNF
4 embryo MP:0005380 10.31 DCHS1 DDX54 EYA1 FAT4 FREM2 GREM1
5 cellular MP:0005384 10.3 EYA1 FAT4 FMN1 GDNF GREM1 PAX2
6 digestive/alimentary MP:0005381 10.16 DCHS1 EYA1 FAT4 GDNF ROBO2 SALL1
7 renal/urinary system MP:0005367 10.16 DCHS1 EYA1 FAT4 FMN1 FREM2 GDNF
8 nervous system MP:0003631 10.1 DCHS1 EYA1 FAT4 FREM2 GDNF GREM1
9 limbs/digits/tail MP:0005371 10.03 DCHS1 FAT4 FMN1 FREM2 GREM1 SALL1
10 hearing/vestibular/ear MP:0005377 10 DCHS1 EYA1 FAT4 FREM2 PAX2 SALL1
11 muscle MP:0005369 9.91 EYA1 FREM2 GDNF HNF1B PRMT7 ROBO2
12 reproductive system MP:0005389 9.85 EYA1 FMN1 FREM2 GDNF GREM1 PAX2
13 respiratory system MP:0005388 9.5 DCHS1 EYA1 FAT4 FREM2 GREM1 ROBO2
14 skeleton MP:0005390 9.28 DCHS1 EYA1 FAT4 FMN1 FREM2 GREM1

Drugs & Therapeutics for Renal Hypoplasia

Search Clinical Trials , 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:

40
Kidney, Heart, Colon, Uterus, Testes, Eye, Lung

Publications for Renal Hypoplasia

Articles related to Renal Hypoplasia:

(show top 50) (show all 544)
# Title Authors PMID Year
1
Use of sildenafil in an infant with persistent pulmonary hypertension secondary to lung and renal hypoplasia - a case report. 61
31690278 2019
2
Long-term outcome of kidney transplantation in patients with congenital anomalies of the kidney and urinary tract. 61
31309282 2019
3
In vivo measurements of kidney glomerular number and size in healthy and Os/+ mice using MRI. 61
31339774 2019
4
RMND1 mutations in two siblings: Severe renal hypoplasia but different levels of extrarenal abnormality severity: The ethics of decision making. 61
31506229 2019
5
[Congenital abnormalities of the optic disc]. 61
30935696 2019
6
New insights into the role of HNF-1β in kidney (patho)physiology. 61
29961928 2019
7
Urinary bladder agenesis and renal hypoplasia potentially related to in utero Zika virus infection. 61
31129423 2019
8
SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes. 61
31005274 2019
9
Diverse phenotypes in children with PAX2-related disorder. 61
31060108 2019
10
Noncoding rare variants of TBX6 in congenital anomalies of the kidney and urinary tract. 61
30604070 2019
11
Prenatal findings and molecular cytogenetic analyses of a de novo interstitial deletion of 1q23.3 encompassing PBX1 gene. 61
30910156 2019
12
Unilateral renal artery stenosis presented with hyponatremic-hypertensive syndrome - case report and literature review. 61
30791890 2019
13
DNA Methyltransferase 1 Controls Nephron Progenitor Cell Renewal and Differentiation. 61
30518531 2019
14
Hypertension secondary to renal hypoplasia presenting as acute heart failure in a newborn. 61
31061719 2019
15
Persistent Primary Cytomegalovirus Infection After Deceased Donor Kidney Transplant: Ganciclovir Susceptibility of Human Cytomegalovirus With UL97 D605E Mutation: A Case Report. 61
30577289 2018
16
Development of antibody mediated rejection shortly after acute cellular rejection in a pediatric kidney transplantation recipient. 61
29949115 2018
17
Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms? 61
29973660 2018
18
New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature. 61
30241513 2018
19
Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling. 61
29808250 2018
20
Centrosome amplification disrupts renal development and causes cystogenesis. 61
29895697 2018
21
Obstetric outcomes and effects on babies born to women treated for epilepsy during pregnancy in a resource limited setting: a comparative cohort study. 61
29898689 2018
22
A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure. 61
29318530 2018
23
Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature. 61
29199884 2018
24
[Fanconi-Bickel-Syndrom: a novel genetic disease in Original Braunvieh]. 61
29509141 2018
25
[Infrequent mutation in renal-coloboma syndrome: case report and review]. 61
29333833 2018
26
Rethinking genotype-phenotype correlations in papillorenal syndrome: a case report on an unusual congenital camptodactyly and skeletal deformity with a heterogeneous PAX2 mutation of hexanucleotide duplication. 61
29054766 2018
27
Outcomes of renal replacement therapy in boys with prune belly syndrome: findings from the ESPN/ERA-EDTA Registry. 61
28779237 2018
28
Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening. 61
29059480 2018
29
Unusual cause of anemia in a child with end-stage renal disease: Questions. 61
28255802 2017
30
De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects. 61
29036646 2017
31
[Renal abnormalities in Down syndrome: A review]. 61
28893484 2017
32
Successful Treatment of Transplant Renal Artery Thrombosis With Systemic Infusion of Recombinant-Tissue-Plasminogen Activator After Renal Transplant. 61
26325476 2017
33
A Sall1-NuRD interaction regulates multipotent nephron progenitors and is required for loop of Henle formation. 61
28760814 2017
34
Doxycycline treatment in dialysis related amyloidosis: discrepancy between antalgic effect and inflammation, studied with FDG-positron emission tomography: a case report. 61
28874122 2017
35
Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms. 61
28559208 2017
36
PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans. 61
28270404 2017
37
KILT (Kidney and IVC Abnormalities with Leg Thrombosis) Syndrome in a 41-Years-Old Man with Loin Pain and Fever. 61
28224089 2017
38
Transient Fanconi syndrome in two preterm infants with hydronephrosis and urinary tract infection. 61
28509132 2017
39
Chronic kidney disease in the neonate: etiologies, management, and outcomes. 61
27733241 2017
40
Osteogenesis imperfecta complicated with renal hypoplasia leads to chronic kidney disease. 61
28317307 2017
41
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. 61
28116109 2017
42
Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles. 61
29226118 2017
43
Constitutive Activation of Smoothened in the Renal Collecting Ducts Leads to Renal Hypoplasia, Hydronephrosis, and Hydroureter. 61
28564646 2017
44
Partitioning-Defective 1a/b Depletion Impairs Glomerular and Proximal Tubule Development. 61
27185860 2016
45
Six2creFrs2α knockout mice are a novel model of renal cystogenesis. 61
27853247 2016
46
Gata3 Hypomorphic Mutant Mice Rescued with a Yeast Artificial Chromosome Transgene Suffer a Glomerular Mesangial Cell Defect. 61
27296697 2016
47
Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability. 61
27255444 2016
48
Ocular manifestations of X-linked dominant FAM58A mutation in toe syndactyly, telecanthus, anogenital, and renal malformations ('STAR') syndrome. 61
26882209 2016
49
ROBO2 gene variants in children with primary nonsyndromic vesicoureteral reflux with or without renal hypoplasia/dysplasia. 61
27002985 2016
50
[Acute colonic pseudo-obstruction (Ogilvie syndrome) post-renal transplant]. 61
29421388 2016

Variations for Renal Hypoplasia

ClinVar genetic disease variations for Renal Hypoplasia:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRMT7 NM_019023.4(PRMT7):c.1713C>A (p.Cys571Ter)SNV Pathogenic 523434 rs1251713297 16:68389688-68389688 16:68355785-68355785
2 PRMT7 NM_019023.4(PRMT7):c.322G>T (p.Glu108Ter)SNV Pathogenic/Likely pathogenic 523435 rs1014959895 16:68363008-68363008 16:68329105-68329105
3 DDX54 NM_001111322.2(DDX54):c.856G>A (p.Val286Met)SNV Likely pathogenic 691939 12:113612859-113612859 12:113175054-113175054
4 KAT6B NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs)deletion Likely pathogenic 523499 rs1554844486 10:76784742-76784745 10:75024984-75024987
5 EYA1 NM_000503.6(EYA1):c.121G>C (p.Glu41Gln)SNV Uncertain significance 242914 rs561111097 8:72267020-72267020 8:71354785-71354785

Copy number variations for Renal Hypoplasia from CNVD:

7
# CNVD ID Chromosome 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
Show member pathways
11.9 WNT9B WNT4 WNT11 HNF1B
2 11.42 WNT9B WNT4 WNT11 HNF1B DCHS1
3
Show member pathways
10.87 WNT9B WNT4 WNT11

GO Terms for Renal Hypoplasia

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

(show top 50) (show all 58)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.2 SIX2 SIX1 SALL1 PAX2 KAT6B HNF1B
2 multicellular organism development GO:0007275 10.19 WNT9B WNT4 WNT11 SIX2 SIX1 ROBO2
3 negative regulation of apoptotic process GO:0043066 10.13 WNT11 SIX1 PAX2 HNF1B GREM1 GDNF
4 negative regulation of transcription, DNA-templated GO:0045892 10.06 WNT4 WNT11 SIX2 SIX1 SALL1 PAX2
5 positive regulation of transcription, DNA-templated GO:0045893 10.02 WNT4 WNT11 SIX1 SALL1 PAX2 KAT6B
6 anatomical structure morphogenesis GO:0009653 9.9 SIX2 EYA1 DCHS1
7 cellular response to retinoic acid GO:0071300 9.88 WNT9B WNT11 PAX2
8 canonical Wnt signaling pathway GO:0060070 9.88 WNT9B WNT4 WNT11
9 inner ear morphogenesis GO:0042472 9.87 SIX1 PAX2 EYA1
10 neurogenesis GO:0022008 9.87 SIX1 FAT4 DCHS1
11 cell fate commitment GO:0045165 9.87 WNT9B WNT4 WNT11 EYA1
12 pattern specification process GO:0007389 9.86 SIX1 EYA1 DCHS1
13 outflow tract morphogenesis GO:0003151 9.86 WNT11 SIX1 EYA1
14 embryonic skeletal system morphogenesis GO:0048704 9.85 SIX2 SIX1 EYA1
15 limb development GO:0060173 9.84 SALL1 GREM1 FMN1
16 anatomical structure development GO:0048856 9.83 WNT4 SIX2 SIX1 EYA1
17 embryonic cranial skeleton morphogenesis GO:0048701 9.82 WNT9B SIX2 SIX1
18 metanephros development GO:0001656 9.8 SIX2 ROBO2 GDNF EYA1
19 branching morphogenesis of an epithelial tube GO:0048754 9.79 WNT9B WNT4 HNF1B
20 cochlea morphogenesis GO:0090103 9.77 SIX1 PAX2 EYA1
21 adrenal gland development GO:0030325 9.76 WNT4 WNT11 SALL1
22 middle ear morphogenesis GO:0042474 9.75 SIX2 SIX1 EYA1
23 kidney morphogenesis GO:0060993 9.73 WNT9B WNT4 HNF1B
24 pharyngeal system development GO:0060037 9.72 SIX1 EYA1
25 embryonic digestive tract morphogenesis GO:0048557 9.72 SIX2 HNF1B
26 neuron fate specification GO:0048665 9.72 SIX1 EYA1
27 aorta morphogenesis GO:0035909 9.72 SIX1 EYA1
28 mesonephros development GO:0001823 9.71 WNT4 PAX2
29 organ induction GO:0001759 9.71 SIX1 GDNF
30 mesenchymal to epithelial transition GO:0060231 9.71 WNT4 PAX2
31 outer ear morphogenesis GO:0042473 9.71 SALL1 EYA1
32 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.71 SIX1 PAX2 GREM1 GDNF
33 metanephric mesenchyme development GO:0072075 9.7 SIX1 PAX2
34 ossification involved in bone maturation GO:0043931 9.7 FAT4 DCHS1
35 otic vesicle development GO:0071599 9.69 SIX1 EYA1
36 mesonephric tubule development GO:0072164 9.69 WNT9B WNT4 HNF1B
37 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.68 PAX2 FAT4
38 mesonephric duct development GO:0072177 9.68 WNT11 HNF1B
39 pronephros development GO:0048793 9.68 PAX2 HNF1B
40 metanephric mesenchymal cell differentiation GO:0072162 9.67 WNT4 PAX2
41 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.66 PAX2 GDNF
42 positive regulation of ureteric bud formation GO:0072107 9.66 SIX1 GDNF
43 ureteric bud formation GO:0060676 9.65 GREM1 GDNF
44 mesodermal cell fate specification GO:0007501 9.65 SIX2 PAX2 EYA1
45 ureteric bud development GO:0001657 9.65 SIX1 SALL1 ROBO2 GDNF EYA1
46 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 9.64 PAX2 HNF1B
47 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.64 SIX1 EYA1
48 nephric duct formation GO:0072179 9.63 PAX2 HNF1B
49 regulation of branch elongation involved in ureteric bud branching GO:0072095 9.63 SIX1 HNF1B
50 ureteric bud invasion GO:0072092 9.62 SALL1 FMN1

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

# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region DNA binding GO:0044212 9.56 WNT11 SIX1 PAX2 HNF1B
2 signaling receptor binding GO:0005102 9.55 WNT9B WNT4 WNT11 GDNF DDX54
3 frizzled binding GO:0005109 9.13 WNT9B WNT4 WNT11
4 receptor ligand activity GO:0048018 8.8 WNT9B WNT4 GREM1

Sources for Renal Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....