MCID: RNL025
MIFTS: 50

Renal Hypoplasia

Categories: Fetal diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Renal Hypoplasia

MalaCards integrated aliases for Renal Hypoplasia:

Name: Renal Hypoplasia 11 58 75 28 5 14

Characteristics:


Inheritance:

Autosomal dominant 58

Age Of Onset:

All ages 58

Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0080204
ICD10 via Orphanet 32 Q60.3 Q60.4 Q60.5
UMLS via Orphanet 72 C0266295 C2608080
Orphanet 58 ORPHA93101

Summaries for Renal Hypoplasia

Orphanet: 58 A congenital renal malformation characterized by abnormally small kidney(s) (kidney volume below two standard deviations of that of age-matched normal individuals or a combined kidney volume of less than half of what is normal for the patient's age) with normal corticomedullary differentiation 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 are Human Embryonic Stem Cell Pluripotency and WNT Signaling. Affiliated tissues include kidney, cortex and pancreatic islet, and related phenotypes are abnormal renal tubule morphology and chronic kidney disease

Disease Ontology: 11 A kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons.

Wikipedia: 75 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 172)
# Related Disease Score Top Affiliating Genes
1 oligomeganephronia 32.4 SALL1 PAX2 HNF1B EYA1
2 van maldergem syndrome 2 32.0 FAT4 DCHS1
3 van maldergem syndrome 1 31.8 FAT4 DCHS1
4 branchiootorenal syndrome 31.1 SIX2 SIX1 SALL1 PAX2 HNF1B EYA1
5 renal dysplasia 30.4 WNT9B LRRC37A2
6 renal agenesis, bilateral 30.2 WNT9B EYA1
7 papillorenal syndrome 30.2 SIX2 SIX1 SALL1 PAX2 HNF1B GDNF
8 hydronephrosis 30.2 SIX2 PAX2 HOXB7
9 coloboma of macula 30.1 SIX1 SALL1 PAX2 EYA1
10 chronic kidney disease 30.1 WNT9B PAX2 LRRC37A2 HNF1B
11 prune belly syndrome 29.9 SALL1 PAX2 HNF1B
12 cystic kidney disease 29.8 SIX2 PAX2 HNF1B FAT4
13 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 29.5 WNT9B WNT4 PAX2 LHX1 HNF1B
14 mayer-rokitansky-kuster-hauser syndrome 29.5 WNT9B WNT4 PAX2 LHX1 HNF1B
15 vesicoureteral reflux 29.4 SIX2 SIX1 SALL1 PAX2 KAT6B HOXB7
16 kidney disease 29.4 WNT9B WNT4 WNT11 SIX1 PAX2 HNF1B
17 wilms tumor 1 28.9 WNT4 SIX2 SIX1 SALL1 PAX2 LHX1
18 renal hypodysplasia/aplasia 1 28.5 WNT9B WNT4 WNT11 SIX2 SIX1 SALL1
19 cakut 28.0 WNT9B WNT4 WNT11 SIX2 SIX1 SALL1
20 stromme syndrome 11.4
21 renal hypoplasia, unilateral 11.4
22 renal hypoplasia, bilateral 11.4
23 smith-lemli-opitz syndrome 11.2
24 mitochondrial complex iv deficiency, nuclear type 10 11.0
25 tetrasomy 9p 11.0
26 cenani-lenz syndactyly syndrome 10.9
27 peters-plus syndrome 10.9
28 microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs 10.9
29 duane-radial ray syndrome 10.9
30 renal hypodysplasia/aplasia 4 10.9
31 ellis yale winter syndrome 10.9
32 distal trisomy 3p 10.9
33 van maldergem syndrome 10.3 FAT4 DCHS1
34 ureterocele 10.3 PAX2 LHX1
35 fallopian tube endometrioid adenocarcinoma 10.3 PAX2 HNF1B
36 hypoparathyroidism-deafness-renal disease syndrome 10.2 PAX2 EYA1
37 patulous eustachian tube 10.2 SIX1 EYA1
38 medullary sponge kidney 10.2 HNF1B GDNF
39 branchiootic syndrome 1 10.2 SIX1 EYA1
40 chromosome 17q12 duplication syndrome 10.2 LHX1 HNF1B
41 bladder exstrophy-epispadias-cloacal exstrophy complex 10.2 WNT9B LRRC37A2
42 hypogonadotropic hypogonadism 2 with or without anosmia 10.2 KAT6B FAT4
43 renal dysplasia, cystic 10.2 WNT9B LRRC37A2
44 chromosome 17q12 deletion syndrome 10.2 LHX1 HNF1B
45 bilateral renal aplasia 10.1 PAX2 HOXB7 EYA1
46 branchiootorenal syndrome 1 10.1 SIX1 EYA1
47 hermaphroditism 10.1 WNT4 KAT6B
48 polydactyly 10.1
49 pyelonephritis 10.1
50 mullerian aplasia and hyperandrogenism 10.1 WNT9B WNT4 PAX2 LHX1

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



Diseases related to Renal Hypoplasia

Symptoms & Phenotypes for Renal Hypoplasia

Human phenotypes related to Renal Hypoplasia:

58 30 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal renal tubule morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0000091
2 chronic kidney disease 58 30 Frequent (33%) Frequent (79-30%)
HP:0012622
3 decreased numbers of nephrons 58 30 Frequent (33%) Frequent (79-30%)
HP:0005563
4 glomerulomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0030162
5 hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000822
6 proteinuria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000093
7 dehydration 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001944
8 polydipsia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001959
9 vesicoureteral reflux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000076
10 hydronephrosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000126
11 recurrent urinary tract infections 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000010
12 pelvic kidney 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000125
13 premature birth 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001622
14 urethral valve 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010481
15 unilateral renal agenesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000122
16 small for gestational age 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001518
17 renal insufficiency 58 Frequent (79-30%)
18 abnormality of the ureter 58 Occasional (29-5%)
19 abnormal renal morphology 58 Frequent (79-30%)
20 abnormal renal cortex morphology 58 Frequent (79-30%)

GenomeRNAi Phenotypes related to Renal Hypoplasia according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.15 CITED1 COX14 DCHS1 DDX54 EYA1 FAT4
2 no effect GR00402-S-2 10.15 CITED1 COX14 DCHS1 EYA1 FAT4 GDNF

MGI Mouse Phenotypes related to Renal Hypoplasia:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.34 CITED1 DCHS1 DDX54 EYA1 FAT4 GDNF
2 renal/urinary system MP:0005367 10.32 CITED1 DCHS1 EYA1 FAT4 GDNF HNF1B
3 nervous system MP:0003631 10.24 DCHS1 EYA1 FAT4 GDNF KAT6B LHX1
4 embryo MP:0005380 10.15 CITED1 DCHS1 EYA1 FAT4 HNF1B LHX1
5 endocrine/exocrine gland MP:0005379 10.14 CITED1 EYA1 GDNF HNF1B HOXB7 LHX1
6 cellular MP:0005384 10.07 CITED1 EYA1 FAT4 GDNF HNF1B KAT6B
7 digestive/alimentary MP:0005381 10.02 DCHS1 EYA1 FAT4 GDNF HNF1B SALL1
8 hearing/vestibular/ear MP:0005377 10 DCHS1 EYA1 FAT4 KAT6B PAX2 SALL1
9 cardiovascular system MP:0005385 9.97 CITED1 DCHS1 DDX54 EYA1 FAT4 GDNF
10 skeleton MP:0005390 9.65 DCHS1 EYA1 FAT4 HOXB7 KAT6B PRMT7
11 mortality/aging MP:0010768 9.53 CITED1 DCHS1 DDX54 EYA1 FAT4 GDNF

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 28

Anatomical Context for Renal Hypoplasia

Organs/tissues related to Renal Hypoplasia:

MalaCards : Kidney, Cortex, Pancreatic Islet, Uterus, Heart, Bone Marrow, Testes

Publications for Renal Hypoplasia

Articles related to Renal Hypoplasia:

(show top 50) (show all 585)
# Title Authors PMID Year
1
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia. 62 5
34145744 2021
2
Targeted next-generation sequencing in a large series of fetuses with severe renal diseases. 5
35005812 2022
3
De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia. 62
36111525 2022
4
Evaluation of screening with urine dipsticks and renal ultrasonography for 3-year-olds in Chiba City over 30 years. 62
36056980 2022
5
Urinary extracellular vesicles signature for diagnosis of kidney disease. 62
36439984 2022
6
[Genetic analysis of a patient with Papillorenal syndrome due to variant of PAX2 gene]. 62
36184096 2022
7
Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia. 62
35756743 2022
8
Predicting factors of clinically significant urological anomalies after initial urinary tract infection among 2- to 24-month-old children. 62
35316554 2022
9
State of the Science for Kidney Disorders in Phelan-McDermid Syndrome: UPK3A, FBLN1, WNT7B, and CELSR1 as Candidate Genes. 62
35741804 2022
10
Identification of Recurrent Anatomical Clusters Using Three-dimensional Virtual Models for Complex Renal Tumors with an Imperative Indication for Nephron-sparing Surgery: New Technological Tools for Driving Decision-making. 62
35265865 2022
11
Immunohistochemical Expression Pattern of FGFR1, FGFR2, RIP5, and HIP2 in Developing and Postnatal Kidneys of Dab1-/- (yotari) Mice. 62
35216141 2022
12
A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract. 62
34525250 2022
13
Loss of Planar Cell Polarity Effector Fuzzy Causes Renal Hypoplasia by Disrupting Several Signaling Pathways. 62
35076510 2021
14
[Reinterpretation of the Malpighian body in light of the existence of a single glomerular arteriole (Trabucco and Marquez)]. 62
34544552 2021
15
Bilateral Renal Hypoplasia with High β2-Microglobulinuria in the Neonatal Period. 62
34344855 2021
16
Bilateral Morning Glory Anomaly With Optic Nerve Multiple Cysts. 62
33110006 2021
17
Laparoscopic pyeloureterostomy for ureteropelvic junction obstruction occurring in incomplete ureteral duplication of the solitary kidney. 62
33977247 2021
18
[Diagnosis and surgical treatment of hypospadia in girls]. 62
33960162 2021
19
DACH1 protects podocytes from experimental diabetic injury and modulates PTIP-H3K4Me3 activity. 62
33998601 2021
20
A Homozygous Dab1-/- Is a Potential Novel Cause of Autosomal Recessive Congenital Anomalies of the Mice Kidney and Urinary Tract. 62
33924028 2021
21
Pathophysiological clinical features of an infant with hypertension secondary to multicystic dysplastic kidney: a case report. 62
33546619 2021
22
Case Report: Candidate Genes Associated With Prenatal Ultrasound Anomalies in a Fetus With Prenatally Detected 1q23.3q31.2 Deletion. 62
34630509 2021
23
Inherited intragenic PBX1 deletion: Expanding the phenotype. 62
33098248 2021
24
Early Robotic-Assisted Laparoscopic Pyeloplasty for Infants Under 3 Months With Severe Ureteropelvic Junction Obstruction. 62
33777859 2021
25
[Computed tomography and positron emission tomography with 18F-FDG can help in the differential diagnosis of kidney hypoplasia and scarring]. 62
33185346 2020
26
Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome. 62
32450157 2020
27
The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome. 62
32643838 2020
28
A rare case of phakomatosis pigmentokeratotica associated with unilateral renal hypoplasia. 62
32769312 2020
29
Molecular basis of a new ovine model for human 3M syndrome-2. 62
32933480 2020
30
Renal hypoplasia can be the cause of membranous nephropathy-like lesions. 62
32424448 2020
31
Renal Hypoplasia, From Grossly Insufficient to Not Quite Enough: Consideration for Expanded Concepts Based Upon the Author's Perspective With Historical Review. 62
32520748 2020
32
The core SWI/SNF catalytic subunit Brg1 regulates nephron progenitor cell proliferation and differentiation. 62
32504627 2020
33
Kidney and inferior vena cava abnormalities with leg thromboses (KILT) syndrome: A case report and literature review. 62
32765161 2020
34
Reduced anogenital distance, hematuria and left renal hypoplasia in a patient with 13q33.1-34 deletion: case report and literature review. 62
32616040 2020
35
Winter syndrome: about an uncommon case report. 62
32316964 2020
36
Chronic Active Antibody-Mediated Rejection with Linear IgG Deposition on Glomerular Capillaries in a Kidney Transplant Recipient. 62
33238286 2020
37
Successful Treatment of Hepatitis C Virus Infection Using Direct-Acting Antiviral Agents (DAAs) in Adolescents with Kidney Transplantation: A Case Series. 62
32606888 2020
38
Deletion in the Cobalamin Synthetase W Domain-Containing Protein 1 Gene Is associated with Congenital Anomalies of the Kidney and Urinary Tract. 62
31862704 2020
39
Factors Associated With the Development of Chronic Kidney Disease in Children With Congenital Anomalies of the Kidney and Urinary Tract. 62
32612963 2020
40
Long-term outcome of kidney transplantation in patients with congenital anomalies of the kidney and urinary tract. 62
31309282 2019
41
Ask-Upmark Kidney, Imaging Features. 62
31880582 2019
42
Use of sildenafil in an infant with persistent pulmonary hypertension secondary to lung and renal hypoplasia - a case report. 62
31690278 2019
43
In vivo measurements of kidney glomerular number and size in healthy and Os/+ mice using MRI. 62
31339774 2019
44
[Congenital abnormalities of the optic disc]. 62
30935696 2019
45
RMND1 mutations in two siblings: Severe renal hypoplasia but different levels of extrarenal abnormality severity: The ethics of decision making. 62
31506229 2019
46
Urinary bladder agenesis and renal hypoplasia potentially related to in utero Zika virus infection. 62
31129423 2019
47
New insights into the role of HNF-1β in kidney (patho)physiology. 62
29961928 2019
48
Diverse phenotypes in children with PAX2-related disorder. 62
31060108 2019
49
SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes. 62
31005274 2019
50
Noncoding rare variants of TBX6 in congenital anomalies of the kidney and urinary tract. 62
30604070 2019

Variations for Renal Hypoplasia

ClinVar genetic disease variations for Renal Hypoplasia:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 50 genes GRCh37/hg19 4p16.3(chr4:388344-3872380) CN LOSS Pathogenic
1047903 GRCh37: 4:388344-3872380
GRCh38:
2 PRMT7 NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter) SNV Pathogenic
523434 rs1251713297 GRCh37: 16:68389688-68389688
GRCh38: 16:68355785-68355785
3 PRMT7 NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter) SNV Pathogenic
523435 rs1014959895 GRCh37: 16:68363008-68363008
GRCh38: 16:68329105-68329105
4 KAT6B NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs) DEL Likely Pathogenic
523499 rs1554844486 GRCh37: 10:76784742-76784745
GRCh38: 10:75024984-75024987
5 DDX54 NM_024072.4(DDX54):c.856G>A (p.Val286Met) SNV Likely Pathogenic
691939 rs148961522 GRCh37: 12:113612859-113612859
GRCh38: 12:113175054-113175054
6 PAX2 NM_000278.5(PAX2):c.576del (p.Ile193fs) DEL Likely Pathogenic
1328399 GRCh37: 10:102541079-102541079
GRCh38: 10:100781322-100781322
7 WNT9B, LRRC37A2 NM_003396.3(WNT9B):c.11dup (p.Pro5fs) DUP Likely Pathogenic
1344867 GRCh37: 17:44929009-44929010
GRCh38: 17:46851643-46851644
8 EYA1 NM_000503.6(EYA1):c.121G>C (p.Glu41Gln) SNV Uncertain Significance
242914 rs561111097 GRCh37: 8:72267020-72267020
GRCh38: 8:71354785-71354785

Copy number variations for Renal Hypoplasia from CNVD:

6
# 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
12.07 WNT9B WNT4 WNT11 HNF1B
2 12.05 WNT9B WNT4 WNT11 HNF1B DCHS1
3
Show member pathways
11.77 WNT9B WNT4 WNT11
4 11.72 WNT9B WNT4 WNT11
5
Show member pathways
11.61 WNT9B WNT4 WNT11
6 11.35 WNT11 SIX2 SIX1 SALL1 PAX2 GDNF
7 10.81 WNT4 SIX1 PAX2 LHX1 HNF1B GDNF
8 10.66 SALL1 PAX2 LHX1 GDNF FAT4 EYA1

GO Terms for Renal Hypoplasia

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

(show top 50) (show all 52)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.57 CITED1 EYA1 GDNF HNF1B HOXB7 KAT6B
2 positive regulation of DNA-templated transcription GO:0045893 10.43 CITED1 EYA1 HNF1B KAT6B LHX1 PAX2
3 negative regulation of DNA-templated transcription GO:0045892 10.42 CITED1 DDX54 KAT6B LHX1 PAX2 SALL1
4 cell differentiation GO:0030154 10.35 CITED1 EYA1 LHX1 PAX2 PRMT7 WNT11
5 neuron differentiation GO:0030182 10.31 WNT9B WNT4 WNT11 LHX1
6 anatomical structure morphogenesis GO:0009653 10.23 DCHS1 EYA1 LHX1 SIX2
7 cellular response to retinoic acid GO:0071300 10.18 WNT9B WNT11 PAX2
8 outflow tract morphogenesis GO:0003151 10.17 WNT11 SIX1 EYA1
9 pattern specification process GO:0007389 10.17 SIX1 LHX1 EYA1 DCHS1
10 embryonic cranial skeleton morphogenesis GO:0048701 10.14 WNT9B SIX2 SIX1
11 cell fate commitment GO:0045165 10.14 WNT9B WNT4 WNT11 EYA1
12 cochlea morphogenesis GO:0090103 10.12 SIX1 PAX2 EYA1
13 embryonic skeletal system morphogenesis GO:0048704 10.12 EYA1 HOXB7 SIX1 SIX2
14 adrenal gland development GO:0030325 10.11 WNT4 WNT11 SALL1
15 neurogenesis GO:0022008 10.1 SIX1 FAT4 DCHS1
16 inner ear morphogenesis GO:0042472 10.1 SIX1 PAX2 EYA1
17 middle ear morphogenesis GO:0042474 10.09 SIX2 SIX1 EYA1
18 anatomical structure development GO:0048856 10.08 WNT4 SIX1 PAX2 EYA1
19 ureteric bud development GO:0001657 10.03 SIX1 SALL1 LHX1 GDNF EYA1
20 mesenchymal to epithelial transition GO:0060231 10.02 WNT4 PAX2 CITED1
21 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 10.02 SIX1 PAX2 LHX1 HOXB7 GDNF
22 organ induction GO:0001759 10.01 SIX1 GDNF
23 mesodermal cell fate specification GO:0007501 10.01 EYA1 PAX2 SIX2
24 metanephric mesenchyme development GO:0072075 10 SIX1 PAX2
25 pronephros development GO:0048793 10 PAX2 LHX1 HNF1B
26 metanephric mesenchymal cell differentiation GO:0072162 9.98 WNT4 PAX2
27 paramesonephric duct development GO:0061205 9.98 LHX1 WNT4
28 positive regulation of ureteric bud formation GO:0072107 9.97 GDNF SIX1
29 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.97 GDNF PAX2
30 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.97 EYA1 SIX1
31 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.97 GDNF PAX2 SALL1 SIX2
32 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 9.96 PAX2 HNF1B
33 regulation of branch elongation involved in ureteric bud branching GO:0072095 9.96 SIX1 HNF1B
34 branching morphogenesis of an epithelial tube GO:0048754 9.95 HNF1B WNT4 WNT9B
35 mesenchymal stem cell maintenance involved in nephron morphogenesis GO:0072038 9.93 SIX2 WNT9B
36 metanephric tubule formation GO:0072174 9.93 WNT4 WNT9B
37 mesonephric duct formation GO:0072181 9.92 HNF1B WNT9B
38 multicellular organism development GO:0007275 9.91 WNT9B WNT4 WNT11 DCHS1
39 mesonephric duct development GO:0072177 9.91 WNT11 LHX1 HNF1B
40 ossification involved in bone maturation GO:0043931 9.89 FAT4 DCHS1
41 mesonephros development GO:0001823 9.88 WNT4 PAX2 LHX1
42 condensed mesenchymal cell proliferation GO:0072137 9.88 SIX2 FAT4 DCHS1
43 epithelium development GO:0060429 9.87 LHX1 HNF1B
44 otic vesicle development GO:0071599 9.86 SIX1 EYA1
45 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.86 PAX2 FAT4
46 kidney development GO:0001822 9.86 WNT9B WNT4 WNT11 SIX2 SIX1 SALL1
47 nephric duct formation GO:0072179 9.82 PAX2 HNF1B
48 metanephros development GO:0001656 9.81 CITED1 EYA1 GDNF LHX1 SIX2 WNT4
49 nephron development GO:0072006 9.8 WNT4 SIX2 FAT4 DCHS1
50 kidney morphogenesis GO:0060993 9.73 WNT9B WNT4 HNF1B

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.73 SIX2 SIX1 PAX2 LHX1 HOXB7 HNF1B
2 cis-regulatory region sequence-specific DNA binding GO:0000987 9.55 PAX2 LHX1 HNF1B
3 frizzled binding GO:0005109 9.1 WNT9B WNT4 WNT11

Sources for Renal Hypoplasia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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