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MCID: RNL078
MIFTS: 47

Renal Dysplasia

Categories: Fetal diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways
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Aliases & Classifications for Renal Dysplasia

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MalaCards integrated aliases for Renal Dysplasia:

Name: Renal Dysplasia 59 29 55 6
Renal Cell Dysplasia 73

Characteristics:

Orphanet epidemiological data:

59
renal dysplasia
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: All ages,Antenatal; Age of death: any age;

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 34 33
Orphanet: 59  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 59 ORPHA93108
UMLS via Orphanet 74 C3536714
ICD10 via Orphanet 34 Q61.4
ICD10 33 Q61.4
UMLS 73 C0235831
Sources

Summaries for Renal Dysplasia

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MalaCards based summary : Renal Dysplasia, also known as renal cell dysplasia, is related to renal dysplasia, cystic and senior-loken syndrome 1. An important gene associated with Renal Dysplasia is REN (Renin), and among its related pathways/superpathways are Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics and Renin secretion. Affiliated tissues include kidney, uterus and lung, and related phenotypes are cardiovascular system and mortality/aging

Wikipedia : 76 Multicystic dysplastic kidney (MCDK) is a condition that results from the malformation of the kidney... more...

Sources

Related Diseases for Renal Dysplasia

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

(show top 50) (show all 191)
# Related Disease Score Top Affiliating Genes
1 renal dysplasia, cystic 33.8 BICC1 CEP290
2 senior-loken syndrome 1 32.3 CEP290 IFT140 NPHP4 SDCCAG8
3 multicystic dysplastic kidney 31.9 PAX2 REN
4 renal hypodysplasia/aplasia 1 31.6 GDNF PAX2 SALL1
5 oligomeganephronia 30.9 GDNF HNF1B PAX2
6 posterior urethral valves 30.1 ACE AGT AGTR1
7 congenital hepatic fibrosis 29.9 AGTR1 REN
8 oligohydramnios 29.8 ACE AGT AGTR1 REN
9 hypertensive heart disease 29.7 ACE AGT AGTR1
10 malignant hypertension 29.5 ACE AGT AGTR1 REN
11 vesicoureteral reflux 1 29.4 AGT AGTR1 PAX2 REN
12 stroke, ischemic 29.3 ACE AGTR1 GDNF REN
13 renal dysplasia-limb defects syndrome 12.5
14 torticollis, keloids, cryptorchidism, and renal dysplasia 12.4
15 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 12.3
16 renal dysplasia diffuse cystic 12.2
17 renal dysplasia, unilateral 12.1
18 renal dysplasia, bilateral 12.1
19 congenital anomalies of kidney and urinary tract 2 12.0
20 renal dysplasia diffuse autosomal recessive 11.9
21 hypoparathyroidism, sensorineural deafness, and renal disease 11.8
22 bilateral multicystic dysplastic kidney 11.4
23 short-rib thoracic dysplasia 9 with or without polydactyly 11.4
24 unilateral multicystic dysplastic kidney 11.3
25 selig benacerraf greene syndrome 11.2
26 perlman syndrome 11.2
27 nail-patella syndrome 11.2
28 say syndrome 11.2
29 vater/vacterl association 11.2
30 bardet-biedl syndrome 10 11.2
31 renal hypodysplasia/aplasia 2 11.0
32 brachymesomelia-renal syndrome 10.9
33 branchiootorenal syndrome 1 10.9
34 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 10.9
35 branchiootorenal syndrome 2 10.9
36 fraser jequier chen syndrome 10.9
37 urethral obstruction sequence 10.9
38 alagille syndrome 1 10.9
39 pallister-hall syndrome 10.9
40 acrocephalopolydactylous dysplasia 10.9
41 meckel syndrome, type 7 10.9
42 corpus callosum, agenesis of, with abnormal genitalia 10.9
43 fanconi anemia, complementation group b 10.9
44 bifid nose with or without anorectal and renal anomalies 10.9
45 culler-jones syndrome 10.9
46 thauvin-robinet-faivre syndrome 10.9
47 renal-hepatic-pancreatic dysplasia 10.9
48 fibular hemimelia 10.9
49 hypoparathyroidism 10.4
50 pediatric hypertension 10.3 ACE AGT

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



Diseases related to Renal Dysplasia
Sources

Symptoms & Phenotypes for Renal Dysplasia

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MGI Mouse Phenotypes related to Renal Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.27 ACE AGT AGTR1 BICC1 CEP290 GATA3
2 mortality/aging MP:0010768 10.2 ACE AGT AGTR1 BICC1 CEP290 EBF3
3 growth/size/body region MP:0005378 10.18 ACE AGT AGTR1 BICC1 CEP290 GATA3
4 cellular MP:0005384 10.13 BICC1 CEP290 GATA3 GDNF IFT140 LMX1B
5 homeostasis/metabolism MP:0005376 10.11 ACE AGT AGTR1 BICC1 CEP290 GATA3
6 nervous system MP:0003631 10.07 AGT AGTR1 CEP290 EBF3 GATA3 GDNF
7 renal/urinary system MP:0005367 10.03 ACE AGT AGTR1 BICC1 CEP290 GATA3
8 reproductive system MP:0005389 9.61 ACE AGT BICC1 CEP290 GATA3 GDNF
9 vision/eye MP:0005391 9.17 CEP290 GATA3 IFT140 LMX1B NPHP4 PAX2
Sources

Drugs & Therapeutics for Renal Dysplasia

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Search Clinical Trials , NIH Clinical Center for Renal Dysplasia

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Genetic Tests for Renal Dysplasia

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Genetic tests related to Renal Dysplasia:

# Genetic test Affiliating Genes
1 Renal Dysplasia 29
Sources

Anatomical Context for Renal Dysplasia

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MalaCards organs/tissues related to Renal Dysplasia:

41
Kidney, Uterus, Lung, Heart, Pituitary, Pancreas, Placenta
Sources

Publications for Renal Dysplasia

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Articles related to Renal Dysplasia:

(show top 50) (show all 366)
# Title Authors Year
1
Constitutive metanephric mesenchyme-specific expression of interferon-gamma causes renal dysplasia by regulating Sall1 expression. ( 29771971 )
2018
2
Lung squamous cell carcinoma associated with hypoparathyroidism with sensorineural deafness and renal dysplasia syndrome: a case report. ( 29593425 )
2018
3
The hypoparathyroidism-deafness-renal dysplasia syndrome: A case report. ( 29398643 )
2018
4
Familial congenital choanal atresia with GATA3 associated hypoparathyroidism-deafness-renal dysplasia syndrome unidentified on auditory brainstem response. ( 30396722 )
2018
5
A splice site variant in INPP5E causes diffuse cystic renal dysplasia and hepatic fibrosis in dogs. ( 30235266 )
2018
6
Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome. ( 28303854 )
2017
7
Unilateral multicystic renal dysplasia: Prenatal diagnosis on ultrasound. ( 28748898 )
2017
8
Hypoparathyroidism, Deafness & Renal Dysplasia (HDR) Syndrome & GATA3. ( 29025137 )
2017
9
Renal dysplasia characterized by prominent cartilaginous metaplasia lesions in VACTERL association: A case report. ( 28403078 )
2017
10
A questionnaire survey of radiological diagnosis and management of renal dysplasia in children. ( 28647851 )
2017
11
Unusual Proliferative Glomerulonephritis in a Patient Diagnosed to Have Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome with a Novel Mutation in the GATA3 Gene. ( 28566604 )
2017
12
A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome. ( 28524840 )
2017
13
Renal dysplasia in the neonate. ( 26849006 )
2016
14
A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene. ( 27183861 )
2016
15
EP10.04: Congenital dwarfism with renal dysplasia: case report. ( 27645547 )
2016
16
Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome. ( 27387476 )
2016
17
Stromal I^-catenin overexpression contributes to the pathogenesis of renal dysplasia. ( 26956838 )
2016
18
Unilateral congenital giant megaureter with renal dysplasia compressing contralateral ureter and causing bilateral hydronephrosis: a case report and literature review. ( 26860315 )
2016
19
A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome. ( 26777049 )
2015
20
Renal dysplasia. ( 25822765 )
2015
21
Tumoral calcinosis in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome undergoing hemodialysis. ( 25767699 )
2015
22
Bilateral Renal Dysplasia, Nephroblastomatosis, and Bronchial Stenosis. A New Syndrome? ( 25871299 )
2015
23
A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome. ( 26514990 )
2015
24
Potential Usefulness of 99mTc-DMSA for Radio-Guided Surgery in Pediatric Renal Dysplasia. ( 26462041 )
2015
25
Renal dysplasia in Bardet-Biedl syndrome. ( 26076793 )
2015
26
The Syndrome of Familial Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia. ( 26710407 )
2015
27
The Good and Bad of I^-Catenin in Kidney Development and Renal Dysplasia. ( 26734608 )
2015
28
The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome. ( 26316437 )
2015
29
Bilateral renal dysplasia, hydronephrosis, and hydroureter in a septic neonatal foal. ( 25750445 )
2015
30
GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome. ( 25124981 )
2014
31
Allelic variation in the canine Cox-2 promoter causes hypermethylation of the canine Cox-2 promoter in clinical cases of renal dysplasia. ( 24708682 )
2014
32
Non-invasive renal artery embolization for renal dysplasia accompanied by hypertension. ( 24548196 )
2014
33
Ectopic ureter, renal dysplasia, and recurrent epididymitis in an infant: case report and review of the literature. ( 25356227 )
2014
34
Spontaneous unilateral renal dysplasia in a clinically healthy cynomolgus monkey (Macaca fascicularis). ( 25053241 )
2014
35
I^-catenin overexpression in the metanephric mesenchyme leads to renal dysplasia genesis via cell-autonomous and non-cell-autonomous mechanisms. ( 24637293 )
2014
36
Fetal and Postnatal Magnetic Resonance Imaging of Unilateral Cystic Renal Dysplasia in a Neonate with Tuberous Sclerosis. ( 24495558 )
2014
37
Renal dysplasia with the ipsilateral ectopic ureter mimicking abscess of the prostate. ( 24665582 )
2014
38
Neonatal diagnosis of a patient with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome associated with cerebral infarction. ( 24859509 )
2014
39
TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia. ( 24382792 )
2014
40
Bilateral diffuse cystic renal dysplasia in a 9-day-old Thoroughbred filly. ( 24489392 )
2014
41
The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. ( 24166810 )
2013
42
Ahsa1 and Hsp90 activity confers more severe craniofacial phenotypes in a zebrafish model of hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR). ( 23720234 )
2013
43
Parathyroid hormone-independent hypercalcemia in an infant with renal dysplasia: possible role of PTHrP. ( 23327815 )
2013
44
A novel GATA3 nonsense mutation in a newly diagnosed adult patient of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. ( 23186964 )
2013
45
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation. ( 21845392 )
2013
46
Transumbilical multiport laparoscopic nephroureterectomy for congenital renal dysplasia in children: midterm follow-up from a single institution. ( 24400291 )
2013
47
A rare case of renal dysplasia: prenatal and postnatal management. ( 23688419 )
2013
48
Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia. ( 23262432 )
2013
49
Primary intra-renal teratoma associated with renal dysplasia: an unusual entity. ( 24426520 )
2013
50
Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia. ( 21922595 )
2012
Sources

Variations for Renal Dysplasia

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ClinVar genetic disease variations for Renal Dysplasia:

6 (show top 50) (show all 402)
# Gene Variation Type Significance SNP ID Assembly Location
1 REN NM_000537.3(REN): c.145C> T (p.Arg49Ter) single nucleotide variant Pathogenic rs121917741 GRCh37 Chromosome 1, 204131245: 204131245
2 REN NM_000537.3(REN): c.145C> T (p.Arg49Ter) single nucleotide variant Pathogenic rs121917741 GRCh38 Chromosome 1, 204162117: 204162117
3 REN NM_000537.3(REN): c.689G> A (p.Arg230Lys) single nucleotide variant Pathogenic rs121917742 GRCh37 Chromosome 1, 204128527: 204128527
4 REN NM_000537.3(REN): c.689G> A (p.Arg230Lys) single nucleotide variant Pathogenic rs121917742 GRCh38 Chromosome 1, 204159399: 204159399
5 ACE NM_000789.3(ACE): c.798C> G (p.Tyr266Ter) single nucleotide variant Pathogenic rs121912704 GRCh37 Chromosome 17, 61557840: 61557840
6 ACE NM_000789.3(ACE): c.798C> G (p.Tyr266Ter) single nucleotide variant Pathogenic rs121912704 GRCh38 Chromosome 17, 63480479: 63480479
7 ACE NM_000789.3(ACE): c.1319_1322delTGGA (p.Leu440Profs) deletion Pathogenic rs387906576 GRCh37 Chromosome 17, 61560027: 61560030
8 ACE NM_000789.3(ACE): c.1319_1322delTGGA (p.Leu440Profs) deletion Pathogenic rs387906576 GRCh38 Chromosome 17, 63482666: 63482669
9 AGTR1 NM_031850.3(AGTR1): c.*86A> C single nucleotide variant Benign rs5186 GRCh37 Chromosome 3, 148459988: 148459988
10 AGTR1 NM_031850.3(AGTR1): c.*86A> C single nucleotide variant Benign rs5186 GRCh38 Chromosome 3, 148742201: 148742201
11 AGTR1 NM_031850.3(AGTR1): c.215dupT (p.Ile73Hisfs) duplication Pathogenic rs387906577 GRCh37 Chromosome 3, 148458932: 148458932
12 AGTR1 NM_031850.3(AGTR1): c.215dupT (p.Ile73Hisfs) duplication Pathogenic rs387906577 GRCh38 Chromosome 3, 148741145: 148741145
13 AGTR1 NM_031850.3(AGTR1): c.950C> T (p.Thr317Met) single nucleotide variant Pathogenic rs104893677 GRCh37 Chromosome 3, 148459667: 148459667
14 AGTR1 NM_031850.3(AGTR1): c.950C> T (p.Thr317Met) single nucleotide variant Pathogenic rs104893677 GRCh38 Chromosome 3, 148741880: 148741880
15 AGT NM_000029.3(AGT): c.803T> C (p.Met268Thr) single nucleotide variant Benign rs699 GRCh37 Chromosome 1, 230845794: 230845794
16 AGT NM_000029.3(AGT): c.803T> C (p.Met268Thr) single nucleotide variant Benign rs699 GRCh38 Chromosome 1, 230710048: 230710048
17 AGT NM_000029.3(AGT): c.1124G> A (p.Arg375Gln) single nucleotide variant Pathogenic rs74315283 GRCh37 Chromosome 1, 230841679: 230841679
18 AGT NM_000029.3(AGT): c.1124G> A (p.Arg375Gln) single nucleotide variant Pathogenic rs74315283 GRCh38 Chromosome 1, 230705933: 230705933
19 AGT NM_000029.3(AGT): c.604C> T (p.Gln202Ter) single nucleotide variant Pathogenic rs121912702 GRCh37 Chromosome 1, 230845993: 230845993
20 AGT NM_000029.3(AGT): c.604C> T (p.Gln202Ter) single nucleotide variant Pathogenic rs121912702 GRCh38 Chromosome 1, 230710247: 230710247
21 AGT NM_000029.3(AGT): c.1290delT (p.Phe430Leufs) deletion Pathogenic rs387906578 GRCh37 Chromosome 1, 230839055: 230839055
22 AGT NM_000029.3(AGT): c.1290delT (p.Phe430Leufs) deletion Pathogenic rs387906578 GRCh38 Chromosome 1, 230703309: 230703309
23 AGTR1 NM_031850.3(AGTR1): c.356G> A (p.Trp119Ter) single nucleotide variant Likely pathogenic rs398122935 GRCh37 Chromosome 3, 148459073: 148459073
24 AGTR1 NM_031850.3(AGTR1): c.356G> A (p.Trp119Ter) single nucleotide variant Likely pathogenic rs398122935 GRCh38 Chromosome 3, 148741286: 148741286
25 AGTR1 NM_031850.3(AGTR1): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs397514687 GRCh37 Chromosome 3, 148459198: 148459198
26 AGTR1 NM_031850.3(AGTR1): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs397514687 GRCh38 Chromosome 3, 148741411: 148741411
27 ACE NM_000789.3(ACE): c.1486C> T (p.Arg496Ter) single nucleotide variant Pathogenic rs397514688 GRCh37 Chromosome 17, 61560533: 61560533
28 ACE NM_000789.3(ACE): c.1486C> T (p.Arg496Ter) single nucleotide variant Pathogenic rs397514688 GRCh38 Chromosome 17, 63483172: 63483172
29 ACE NM_000789.3(ACE): c.2371C> T (p.Arg791Ter) single nucleotide variant Pathogenic rs397514689 GRCh37 Chromosome 17, 61566074: 61566074
30 ACE NM_000789.3(ACE): c.2371C> T (p.Arg791Ter) single nucleotide variant Pathogenic rs397514689 GRCh38 Chromosome 17, 63488713: 63488713
31 REN NM_000537.3(REN): c.127C> T (p.Arg43Ter) single nucleotide variant Pathogenic rs397514690 GRCh37 Chromosome 1, 204131263: 204131263
32 REN NM_000537.3(REN): c.127C> T (p.Arg43Ter) single nucleotide variant Pathogenic rs397514690 GRCh38 Chromosome 1, 204162135: 204162135
33 REN NM_000537.3(REN): c.404C> A (p.Ser135Tyr) single nucleotide variant Pathogenic rs397514691 GRCh37 Chromosome 1, 204129776: 204129776
34 REN NM_000537.3(REN): c.404C> A (p.Ser135Tyr) single nucleotide variant Pathogenic rs397514691 GRCh38 Chromosome 1, 204160648: 204160648
35 ACE NM_000789.3(ACE): c.12_31del20 (p.Ser5Alafs) deletion Pathogenic/Likely pathogenic rs797045079 GRCh37 Chromosome 17, 61554467: 61554486
36 ACE NM_000789.3(ACE): c.12_31del20 (p.Ser5Alafs) deletion Pathogenic/Likely pathogenic rs797045079 GRCh38 Chromosome 17, 63477106: 63477125
37 ACE NM_000789.3(ACE): c.1522C> T (p.Arg508Ter) single nucleotide variant Pathogenic/Likely pathogenic rs367797185 GRCh37 Chromosome 17, 61560855: 61560855
38 ACE NM_000789.3(ACE): c.1522C> T (p.Arg508Ter) single nucleotide variant Pathogenic/Likely pathogenic rs367797185 GRCh38 Chromosome 17, 63483494: 63483494
39 REN NM_000537.3(REN): c.204A> C (p.Thr68=) single nucleotide variant Benign rs5705 GRCh37 Chromosome 1, 204131186: 204131186
40 REN NM_000537.3(REN): c.204A> C (p.Thr68=) single nucleotide variant Benign rs5705 GRCh38 Chromosome 1, 204162058: 204162058
41 AGT NM_000029.3(AGT): c.1116A> G (p.Leu372=) single nucleotide variant Benign rs7080 GRCh38 Chromosome 1, 230705941: 230705941
42 AGT NM_000029.3(AGT): c.1116A> G (p.Leu372=) single nucleotide variant Benign rs7080 GRCh37 Chromosome 1, 230841687: 230841687
43 AGTR1 NM_000685.4(AGTR1): c.573C> T (p.Leu191=) single nucleotide variant Benign rs5182 GRCh37 Chromosome 3, 148459395: 148459395
44 AGTR1 NM_000685.4(AGTR1): c.573C> T (p.Leu191=) single nucleotide variant Benign rs5182 GRCh38 Chromosome 3, 148741608: 148741608
45 AGTR1 NM_000685.4(AGTR1): c.1062A> G (p.Pro354=) single nucleotide variant Benign rs5183 GRCh37 Chromosome 3, 148459884: 148459884
46 AGTR1 NM_000685.4(AGTR1): c.1062A> G (p.Pro354=) single nucleotide variant Benign rs5183 GRCh38 Chromosome 3, 148742097: 148742097
47 ACE NM_000789.3(ACE): c.582C> T (p.Asn194=) single nucleotide variant Benign rs4298 GRCh38 Chromosome 17, 63479839: 63479839
48 ACE NM_000789.3(ACE): c.582C> T (p.Asn194=) single nucleotide variant Benign rs4298 GRCh37 Chromosome 17, 61557200: 61557200
49 ACE NM_000789.3(ACE): c.655+13C> T single nucleotide variant Benign/Likely benign rs4300 GRCh38 Chromosome 17, 63479925: 63479925
50 ACE NM_000789.3(ACE): c.655+13C> T single nucleotide variant Benign/Likely benign rs4300 GRCh37 Chromosome 17, 61557286: 61557286
Sources

Expression for Renal Dysplasia

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Search GEO for disease gene expression data for Renal Dysplasia.
Sources

Pathways for Renal Dysplasia

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Pathways related to Renal Dysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics 61
Show member pathways
 11.16 ACE AGT AGTR1 REN
2
Renin secretion 37
10.74 ACE AGT AGTR1 REN
Sources

GO Terms for Renal Dysplasia

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

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body GO:0036064 9.33 CEP290 IFT140 NPHP4
2 photoreceptor connecting cilium GO:0032391 9.13 CEP290 IFT140 NPHP4
3 centriolar satellite GO:0034451 8.8 CEP290 PAX2 SDCCAG8

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

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.98 AGT CEP290 EBF3 GATA3 HNF1B PAX2
2 heart development GO:0007507 9.93 BICC1 GATA3 IFT140 SALL1
3 ciliary basal body-plasma membrane docking GO:0097711 9.82 CEP290 NPHP4 SDCCAG8
4 regulation of blood pressure GO:0008217 9.79 ACE AGT REN
5 branching involved in ureteric bud morphogenesis GO:0001658 9.77 GDNF PAX2 SALL1
6 renal system development GO:0072001 9.68 GATA3 IFT140
7 positive regulation of blood pressure GO:0045777 9.68 ACE AGT
8 hindbrain development GO:0030902 9.67 CEP290 HNF1B
9 cell fate determination GO:0001709 9.67 GATA3 PAX2
10 positive regulation of cellular protein metabolic process GO:0032270 9.67 AGT AGTR1
11 regulation of vasoconstriction GO:0019229 9.67 ACE AGT AGTR1
12 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.66 AGT AGTR1
13 sympathetic nervous system development GO:0048485 9.66 GATA3 GDNF
14 amyloid-beta metabolic process GO:0050435 9.65 ACE REN
15 low-density lipoprotein particle remodeling GO:0034374 9.65 AGT AGTR1
16 regulation of blood vessel diameter GO:0097746 9.65 ACE AGTR1
17 angiotensin maturation GO:0002003 9.64 ACE REN
18 photoreceptor cell outer segment organization GO:0035845 9.63 IFT140 NPHP4
19 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.63 AGT GDNF PAX2
20 mesenchymal to epithelial transition GO:0060231 9.62 GATA3 PAX2
21 positive regulation of cholesterol esterification GO:0010873 9.62 AGT AGTR1
22 positive regulation of NAD(P)H oxidase activity GO:0033864 9.61 AGT AGTR1
23 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.59 GDNF PAX2
24 positive regulation of ureteric bud formation GO:0072107 9.58 GATA3 GDNF
25 regulation of renal sodium excretion GO:0035813 9.58 AGT AGTR1
26 mesonephros development GO:0001823 9.58 GATA3 PAX2 REN
27 ureter maturation GO:0035799 9.57 GATA3 PAX2
28 ureteric bud formation GO:0060676 9.56 GATA3 GDNF
29 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 9.55 HNF1B PAX2
30 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.54 AGT AGTR1
31 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.54 GDNF PAX2 SALL1
32 regulation of blood volume by renin-angiotensin GO:0002016 9.52 AGT REN
33 regulation of renal output by angiotensin GO:0002019 9.51 ACE AGT
34 pronephros development GO:0048793 9.5 CEP290 HNF1B PAX2
35 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.43 ACE AGT AGTR1
36 renin-angiotensin regulation of aldosterone production GO:0002018 9.33 AGT AGTR1 REN
37 kidney development GO:0001822 9.17 ACE AGT AGTR1 GATA3 HNF1B REN
38 nephric duct formation GO:0072179 9.13 GATA3 HNF1B PAX2
39 positive regulation of transcription by RNA polymerase II GO:0045944 10.08 CDC5L EBF3 GATA3 GDNF HNF1B LMX1B

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 CDC5L EBF3 GATA3 HNF1B LMX1B PAX2
2 proximal promoter sequence-specific DNA binding GO:0000987 9.13 GATA3 HNF1B PAX2
3 bradykinin receptor binding GO:0031711 8.62 ACE AGTR1
Sources

Sources for Renal Dysplasia

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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