MCID: RNL025
MIFTS: 42

Renal Hypoplasia

Categories: Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Renal Hypoplasia

MalaCards integrated aliases for Renal Hypoplasia:

Name: Renal Hypoplasia 12 74 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 2. An important gene associated with Renal Hypoplasia is PRMT7 (Protein Arginine Methyltransferase 7), and among its related pathways/superpathways is WNT Signaling. Affiliated tissues include kidney, heart and colon, and related phenotypes are cardiovascular system and growth/size/body region

Wikipedia : 74 Renal hypoplasia is an abnormality that a person is born with in which one or both of the kidneys are... more...

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 2 32.4 FAT4 DCHS1
3 van maldergem syndrome 1 31.7 FAT4 DCHS1
4 coloboma of macula 30.1 SALL1 PAX2 FREM2 EYA1
5 chromosome 2q35 duplication syndrome 30.0 SALL1 GREM1 FREM2
6 papillorenal syndrome 30.0 SIX2 SIX1 SALL1 ROBO2 PAX2 HNF1B
7 renal dysplasia 29.8 SALL1 PAX2 HNF1B GDNF
8 kidney disease 29.4 SIX1 PAX2 HNF1B GREM1 EYA1
9 wilms tumor 1 28.9 SIX2 SIX1 PAX2 EYA1 CITED1
10 vesicoureteral reflux 1 28.0 WNT9B WNT11 SIX2 SIX1 SALL1 ROBO2
11 renal hypodysplasia/aplasia 1 27.3 WNT9B WNT11 SIX2 SIX1 SALL1 ROBO2
12 cakut 27.1 WNT9B WNT11 SIX2 SIX1 SALL1 ROBO2
13 renal hypoplasia, unilateral 12.4
14 renal hypoplasia, bilateral 12.4
15 smith-lemli-opitz syndrome 11.6
16 cenani-lenz syndactyly syndrome 11.5
17 stromme syndrome 11.3
18 ritscher-schinzel syndrome 1 11.0
19 split-hand/foot malformation 3 11.0
20 ellis yale winter syndrome 11.0
21 tetrasomy 9p 11.0
22 bilateral renal aplasia 10.4 PAX2 EYA1
23 van maldergem syndrome 10.4 FAT4 DCHS1
24 acrorenal syndrome 10.4 FREM2 FMN1
25 congenital anomalies of kidney and urinary tract 2 10.3 ROBO2 PAX2 EYA1
26 branchiootorenal spectrum disorder 10.2 SIX1 EYA1
27 fallopian tube endometrioid adenocarcinoma 10.2 PAX2 HNF1B
28 telecanthus 10.2 SALL1 KAT6B
29 polycystic kidney disease 4 with or without polycystic liver disease 10.2 PAX2 HNF1B FAT4
30 cryptophthalmos, unilateral or bilateral, isolated 10.1 FREM2 FMN1
31 mayer-rokitansky-kuster-hauser syndrome 10.1 WNT9B PAX2 HNF1B
32 synostosis 10.1 GREM1 FREM2 FMN1
33 chronic kidney disease 10.1
34 fraser syndrome 1 10.0 SIX1 FREM2 EYA1
35 deafness, autosomal dominant 10 10.0 SIX1 EYA1
36 wilson-turner x-linked mental retardation syndrome 10.0 SIX2 SIX1 FAT4
37 polydactyly 10.0
38 pyelonephritis 10.0
39 norrie disease 10.0 WNT9B WNT11 GREM1
40 hydronephrosis 10.0
41 oligohydramnios 10.0
42 autosomal dominant nonsyndromic deafness 9.9 SIX1 FMN1 EYA1
43 end stage renal disease 9.9
44 pax2-related disorder 9.9
45 branchiootorenal syndrome 2 9.9 SIX1 EYA1
46 orofacial cleft 9.8 WNT9B WNT11 GREM1 EYA1
47 diaphragmatic hernia, congenital 9.8
48 pulmonary hypertension 9.8
49 malignant hypertension 9.8
50 acute cystitis 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 cardiovascular system MP:0005385 10.38 CITED1 DCHS1 DDX54 EYA1 FAT4 FREM2
2 growth/size/body region MP:0005378 10.35 CITED1 DCHS1 DDX54 EYA1 FAT4 FREM2
3 cellular MP:0005384 10.34 CITED1 EYA1 FAT4 FMN1 GDNF GREM1
4 mortality/aging MP:0010768 10.33 CITED1 DCHS1 DDX54 EYA1 FAT4 FMN1
5 embryo MP:0005380 10.31 CITED1 DCHS1 DDX54 EYA1 FAT4 FREM2
6 digestive/alimentary MP:0005381 10.16 DCHS1 EYA1 FAT4 GDNF ROBO2 SALL1
7 renal/urinary system MP:0005367 10.16 CITED1 DCHS1 EYA1 FAT4 FMN1 FREM2
8 nervous system MP:0003631 10.06 DCHS1 EYA1 FAT4 FREM2 GDNF GREM1
9 hearing/vestibular/ear MP:0005377 10 DCHS1 EYA1 FAT4 FREM2 PAX2 SALL1
10 limbs/digits/tail MP:0005371 9.98 DCHS1 FAT4 FMN1 FREM2 GREM1 SALL1
11 muscle MP:0005369 9.91 EYA1 FREM2 GDNF HNF1B PRMT7 ROBO2
12 reproductive system MP:0005389 9.81 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 (disease) 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 551)
# Title Authors PMID Year
1
Renal Hypoplasia, From Grossly Insufficient to Not Quite Enough: Consideration for Expanded Concepts Based Upon the Author's Perspective With Historical Review. 61
32520748 2020
2
The core SWI/SNF catalytic subunit Brg1 regulates nephron progenitor cell proliferation and differentiation. 61
32504627 2020
3
Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome. 61
32450157 2020
4
Renal hypoplasia can be the cause of membranous nephropathy-like lesions. 61
32424448 2020
5
Winter syndrome: about an uncommon case report. 61
32316964 2020
6
Deletion in the Cobalamin Synthetase W Domain-Containing Protein 1 Gene Is associated with Congenital Anomalies of the Kidney and Urinary Tract. 61
31862704 2020
7
Use of sildenafil in an infant with persistent pulmonary hypertension secondary to lung and renal hypoplasia - a case report. 61
31690278 2019
8
Ask-Upmark Kidney, Imaging Features. 61
31880582 2019
9
Long-term outcome of kidney transplantation in patients with congenital anomalies of the kidney and urinary tract. 61
31309282 2019
10
In vivo measurements of kidney glomerular number and size in healthy and Os/+ mice using MRI. 61
31339774 2019
11
RMND1 mutations in two siblings: Severe renal hypoplasia but different levels of extrarenal abnormality severity: The ethics of decision making. 61
31506229 2019
12
[Congenital abnormalities of the optic disc]. 61
30935696 2019
13
New insights into the role of HNF-1β in kidney (patho)physiology. 61
29961928 2019
14
Urinary bladder agenesis and renal hypoplasia potentially related to in utero Zika virus infection. 61
31129423 2019
15
SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes. 61
31005274 2019
16
Diverse phenotypes in children with PAX2-related disorder. 61
31060108 2019
17
Noncoding rare variants of TBX6 in congenital anomalies of the kidney and urinary tract. 61
30604070 2019
18
Prenatal findings and molecular cytogenetic analyses of a de novo interstitial deletion of 1q23.3 encompassing PBX1 gene. 61
30910156 2019
19
Unilateral renal artery stenosis presented with hyponatremic-hypertensive syndrome - case report and literature review. 61
30791890 2019
20
DNA Methyltransferase 1 Controls Nephron Progenitor Cell Renewal and Differentiation. 61
30518531 2019
21
Hypertension secondary to renal hypoplasia presenting as acute heart failure in a newborn. 61
31061719 2019
22
Persistent Primary Cytomegalovirus Infection After Deceased Donor Kidney Transplant: Ganciclovir Susceptibility of Human Cytomegalovirus With UL97 D605E Mutation: A Case Report. 61
30577289 2018
23
Development of antibody mediated rejection shortly after acute cellular rejection in a pediatric kidney transplantation recipient. 61
29949115 2018
24
Could the interaction between LMX1B and PAX2 influence the severity of renal symptoms? 61
29973660 2018
25
New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature. 61
30241513 2018
26
Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling. 61
29808250 2018
27
Centrosome amplification disrupts renal development and causes cystogenesis. 61
29895697 2018
28
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
29
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
30
Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature. 61
29199884 2018
31
[Fanconi-Bickel-Syndrom: a novel genetic disease in Original Braunvieh]. 61
29509141 2018
32
[Infrequent mutation in renal-coloboma syndrome: case report and review]. 61
29333833 2018
33
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
34
Outcomes of renal replacement therapy in boys with prune belly syndrome: findings from the ESPN/ERA-EDTA Registry. 61
28779237 2018
35
Renal insufficiency mimicking glutaric acidemia type 1 on newborn screening. 61
29059480 2018
36
Unusual cause of anemia in a child with end-stage renal disease: Questions. 61
28255802 2017
37
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
38
[Renal abnormalities in Down syndrome: A review]. 61
28893484 2017
39
Successful Treatment of Transplant Renal Artery Thrombosis With Systemic Infusion of Recombinant-Tissue-Plasminogen Activator After Renal Transplant. 61
26325476 2017
40
Doxycycline treatment in dialysis related amyloidosis: discrepancy between antalgic effect and inflammation, studied with FDG-positron emission tomography: a case report. 61
28874122 2017
41
A Sall1-NuRD interaction regulates multipotent nephron progenitors and is required for loop of Henle formation. 61
28760814 2017
42
Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms. 61
28559208 2017
43
PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans. 61
28270404 2017
44
KILT (Kidney and IVC Abnormalities with Leg Thrombosis) Syndrome in a 41-Years-Old Man with Loin Pain and Fever. 61
28224089 2017
45
Transient Fanconi syndrome in two preterm infants with hydronephrosis and urinary tract infection. 61
28509132 2017
46
Chronic kidney disease in the neonate: etiologies, management, and outcomes. 61
27733241 2017
47
Osteogenesis imperfecta complicated with renal hypoplasia leads to chronic kidney disease. 61
28317307 2017
48
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
49
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
50
Constitutive Activation of Smoothened in the Renal Collecting Ducts Leads to Renal Hypoplasia, Hydronephrosis, and Hydroureter. 61
28564646 2017

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_019023.5(PRMT7):c.1713C>A (p.Cys571Ter)SNV Pathogenic 523434 rs1251713297 16:68389688-68389688 16:68355785-68355785
2 PRMT7 NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter)SNV Pathogenic/Likely pathogenic 523435 rs1014959895 16:68363008-68363008 16:68329105-68329105
3 KAT6B NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs)deletion Likely pathogenic 523499 rs1554844486 10:76784742-76784745 10:75024984-75024987
4 DDX54 NM_024072.4(DDX54):c.856G>A (p.Val286Met)SNV Likely pathogenic 691939 12:113612859-113612859 12:113175054-113175054
5 EYA1 NM_000503.6(EYA1):c.121G>C (p.Glu41Gln)SNV Conflicting interpretations of pathogenicity 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 11.32 WNT9B WNT11 HNF1B DCHS1

GO Terms for Renal Hypoplasia

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

(show top 50) (show all 54)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.18 WNT11 ROBO2 PRMT7 PAX2 EYA1 CITED1
2 multicellular organism development GO:0007275 10.16 WNT9B WNT11 SIX2 SIX1 ROBO2 PAX2
3 positive regulation of transcription by RNA polymerase II GO:0045944 10.15 SIX2 SIX1 SALL1 PAX2 KAT6B HNF1B
4 negative regulation of apoptotic process GO:0043066 10.06 WNT11 SIX1 PAX2 HNF1B GREM1 GDNF
5 negative regulation of transcription, DNA-templated GO:0045892 10.06 WNT11 SIX2 SIX1 SALL1 PAX2 KAT6B
6 positive regulation of transcription, DNA-templated GO:0045893 10.02 WNT11 SIX1 SALL1 PAX2 KAT6B HNF1B
7 anatomical structure morphogenesis GO:0009653 9.89 SIX2 EYA1 DCHS1
8 cellular response to retinoic acid GO:0071300 9.87 WNT9B WNT11 PAX2
9 cell fate commitment GO:0045165 9.86 WNT9B WNT11 EYA1
10 inner ear morphogenesis GO:0042472 9.85 SIX1 PAX2 EYA1
11 neurogenesis GO:0022008 9.85 SIX1 FAT4 DCHS1
12 anatomical structure development GO:0048856 9.84 SIX2 SIX1 EYA1
13 pattern specification process GO:0007389 9.84 SIX1 EYA1 DCHS1
14 embryonic skeletal system morphogenesis GO:0048704 9.83 SIX2 SIX1 EYA1
15 outflow tract morphogenesis GO:0003151 9.83 WNT11 SIX1 EYA1
16 limb development GO:0060173 9.81 SALL1 GREM1 FMN1
17 kidney development GO:0001822 9.76 WNT9B WNT11 SIX2 SIX1 SALL1 HNF1B
18 embryonic cranial skeleton morphogenesis GO:0048701 9.75 WNT9B SIX2 SIX1
19 cochlea morphogenesis GO:0090103 9.72 SIX1 PAX2 EYA1
20 ureteric bud development GO:0001657 9.72 SIX1 SALL1 ROBO2 GDNF EYA1
21 adrenal gland development GO:0030325 9.71 WNT11 SALL1
22 pharyngeal system development GO:0060037 9.71 SIX1 EYA1
23 embryonic digestive tract morphogenesis GO:0048557 9.71 SIX2 HNF1B
24 neuron fate specification GO:0048665 9.71 SIX1 EYA1
25 middle ear morphogenesis GO:0042474 9.71 SIX2 SIX1 EYA1
26 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.71 SIX1 PAX2 GREM1 GDNF
27 aorta morphogenesis GO:0035909 9.7 SIX1 EYA1
28 kidney morphogenesis GO:0060993 9.7 WNT9B HNF1B
29 organ induction GO:0001759 9.7 SIX1 GDNF
30 mesenchymal to epithelial transition GO:0060231 9.7 PAX2 CITED1
31 nephron development GO:0072006 9.7 SIX2 FAT4 DCHS1
32 outer ear morphogenesis GO:0042473 9.69 SALL1 EYA1
33 metanephric mesenchyme development GO:0072075 9.68 SIX1 PAX2
34 otic vesicle development GO:0071599 9.68 SIX1 EYA1
35 ossification involved in bone maturation GO:0043931 9.68 FAT4 DCHS1
36 mesonephric tubule development GO:0072164 9.67 WNT9B HNF1B
37 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.65 PAX2 FAT4
38 mesonephric duct development GO:0072177 9.65 WNT11 HNF1B
39 mesodermal cell fate specification GO:0007501 9.65 SIX2 PAX2 EYA1
40 metanephros development GO:0001656 9.65 SIX2 ROBO2 GDNF EYA1 CITED1
41 pronephros development GO:0048793 9.64 PAX2 HNF1B
42 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.63 PAX2 GDNF
43 positive regulation of ureteric bud formation GO:0072107 9.63 SIX1 GDNF
44 ureteric bud formation GO:0060676 9.62 GREM1 GDNF
45 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 9.62 PAX2 HNF1B
46 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.61 SIX1 EYA1
47 nephric duct formation GO:0072179 9.61 PAX2 HNF1B
48 condensed mesenchymal cell proliferation GO:0072137 9.61 SIX2 FAT4 DCHS1
49 regulation of branch elongation involved in ureteric bud branching GO:0072095 9.6 SIX1 HNF1B
50 ureteric bud invasion GO:0072092 9.59 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 sequence-specific DNA binding GO:0000976 9.26 WNT11 SIX2 SIX1 PAX2
2 transcription regulatory region DNA binding GO:0044212 8.92 WNT11 SIX1 PAX2 HNF1B

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
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