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MCID: RNL078
MIFTS: 50

Renal Dysplasia

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

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MalaCards integrated aliases for Renal Dysplasia:

Name: Renal Dysplasia 58 29 54 6 32
Renal Cell Dysplasia 71

Characteristics:

Orphanet epidemiological data:

58
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: 32 33
Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 32 Q61.4
ICD10 via Orphanet 33 Q61.4
UMLS via Orphanet 72 C3536714
Orphanet 58 ORPHA93108
UMLS 71 C0235831
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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 multicystic dysplastic kidney. 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. The drugs leucovorin and Nitrofurantoin have been mentioned in the context of this disorder. Affiliated tissues include kidney, lung and uterus, and related phenotypes are mortality/aging and cardiovascular system

Wikipedia : 74 Multicystic dysplastic kidney (MCDK) is a condition that results from the malformation of the kidney... more...

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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 317)
# Related Disease Score Top Affiliating Genes
1 renal dysplasia, cystic 34.2 PKD1 BICC1
2 multicystic dysplastic kidney 32.1 REN PKD1 PAX2
3 potter's syndrome 32.1 REN AGT ACE
4 oligomeganephronia 31.5 PAX2 HNF1B
5 posterior urethral valves 30.8 AGTR1 AGT ACE
6 renal hypodysplasia/aplasia 1 30.7 SALL1 PAX2 HNF1B GDNF
7 congenital hepatic fibrosis 30.2 PKD1 AGTR1
8 horseshoe kidney 29.8 REN HNF1B
9 oligohydramnios 29.8 REN HNF1B AGTR1 AGT ACE
10 renal fibrosis 29.7 REN AGTR1 AGT
11 anuria 29.7 REN AGTR1 AGT ACE
12 malignant hypertension 29.7 REN AGTR1 AGT ACE
13 renovascular hypertension 29.7 REN PKD1 AGTR1 ACE
14 hypertensive heart disease 29.7 REN AGTR1 AGT ACE
15 interstitial nephritis 29.7 REN AGTR1 AGT ACE
16 congestive heart failure 29.6 REN AGTR1 AGT ACE
17 urinary tract obstruction 29.4 REN PAX2 GDNF AGTR1 ACE
18 polycystic kidney disease 29.1 REN PKD1 HNF1B AGTR1 AGT ACE
19 end stage renal disease 29.1 REN PKD1 PAX2 AGTR1 AGT ACE
20 caroli disease 28.9 PKD1 HNF1B
21 focal segmental glomerulosclerosis 28.8 PAX2 LMX1B AGTR1 ACE
22 chronic kidney disease 28.7 REN PKD1 HNF1B AGTR1 AGT ACE
23 townes-brocks syndrome 28.4 SALL1 PAX2 HNF1B
24 branchiootorenal syndrome 28.4 SALL1 PAX2 HNF1B
25 autosomal dominant polycystic kidney disease 28.3 REN PKD1 HNF1B BICC1 AGTR1 AGT
26 polycystic kidney disease 4 with or without polycystic liver disease 28.3 PKD1 PAX2 HNF1B BICC1
27 renal hypoplasia 28.2 SALL1 PAX2 HNF1B GDNF
28 cakut 28.0 SALL1 REN PAX2 HNF1B GDNF
29 papillorenal syndrome 27.9 SALL1 PAX2 HNF1B GDNF
30 cystic kidney disease 27.8 REN PKD1 PAX2 HNF1B BICC1 ACE
31 kidney disease 27.8 REN PKD1 PAX2 LMX1B HNF1B GATA3
32 vesicoureteral reflux 1 27.6 SALL1 REN PAX2 GDNF GATA3 EBF3
33 renal dysplasia-limb defects syndrome 12.6
34 torticollis, keloids, cryptorchidism, and renal dysplasia 12.6
35 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 12.5
36 renal dysplasia, unilateral 12.4
37 renal dysplasia, bilateral 12.3
38 hypoparathyroidism, sensorineural deafness, and renal disease 12.2
39 congenital anomalies of kidney and urinary tract 2 12.1
40 senior-loken syndrome 1 11.9
41 unilateral multicystic dysplastic kidney 11.7
42 bilateral multicystic dysplastic kidney 11.6
43 short-rib thoracic dysplasia 9 with or without polydactyly 11.6
44 perlman syndrome 11.5
45 renal hypodysplasia/aplasia 2 11.5
46 branchiootorenal syndrome 1 11.4
47 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 11.4
48 selig benacerraf greene syndrome 11.4
49 nail-patella syndrome 11.4
50 vater/vacterl association 11.4

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



Diseases related to Renal Dysplasia
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Symptoms & Phenotypes for Renal Dysplasia

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MGI Mouse Phenotypes related to Renal Dysplasia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.2 ACE AGT AGTR1 BICC1 CEP55 EBF3
2 cardiovascular system MP:0005385 10.17 ACE AGT AGTR1 BICC1 GATA3 GDNF
3 growth/size/body region MP:0005378 10.11 ACE AGT AGTR1 BICC1 GATA3 GDNF
4 embryo MP:0005380 10.01 ACE BICC1 GATA3 HNF1B LMX1B PAX2
5 nervous system MP:0003631 9.9 AGT AGTR1 EBF3 GATA3 GDNF LMX1B
6 muscle MP:0005369 9.8 AGT GATA3 GDNF HNF1B LMX1B PKD1
7 renal/urinary system MP:0005367 9.73 ACE AGT AGTR1 BICC1 GATA3 GDNF
8 reproductive system MP:0005389 9.28 ACE AGT BICC1 GATA3 GDNF PAX2
Sources

Drugs & Therapeutics for Renal Dysplasia

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Drugs for Renal Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 4 58-05-9 6006 143
2
Nitrofurantoin Approved, Vet_approved Phase 4 67-20-9 5353830
3
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
4
Sulfamethoxazole Approved Phase 4 723-46-6 5329
5
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
6 Cytochrome P-450 Enzyme Inhibitors Phase 4
7 Anti-Infective Agents Phase 4
8 Folic Acid Antagonists Phase 4
9 Anti-Bacterial Agents Phase 4
10 Vitamin B Complex Phase 4
11 Antiprotozoal Agents Phase 4
12 Folate Phase 4
13 Antiparasitic Agents Phase 4
14 Trimethoprim, Sulfamethoxazole Drug Combination Phase 4
15 Antibiotics, Antitubercular Phase 4
16 Vitamin B9 Phase 4
17 Antimalarials Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Antibiotic Prophylaxis After Acute Pyelonephritis for Prevention of Urinary Tract Infections in Children With Vesico-Ureteral Reflux. Completed NCT00382343 Phase 4 Sulfamethoxazole/trimethoprim

Search 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 ACE AGT AGTR1 REN
Sources

Anatomical Context for Renal Dysplasia

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MalaCards organs/tissues related to Renal Dysplasia:

40
Kidney, Lung, Uterus, Testis, Bone, Heart, Prostate
Sources

Publications for Renal Dysplasia

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Articles related to Renal Dysplasia:

(show top 50) (show all 1177)
# Title Authors PMID Year
1
HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication. 61 54
19659764 2009
2
HDR syndrome: a novel "de novo" mutation in GATA3 gene. 54 61
19248180 2009
3
10p12.1 deletion: HDR phenotype without DGS2 features. 61 54
19022243 2009
4
An unusual association of contralateral congenital small kidney, reduced renal function and hyperparathyroidism in sponge kidney patients: on the track of the molecular basis. 54 61
15814540 2005
5
Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome. 54 61
15705923 2005
6
Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney development. 54 61
12874457 2003
7
Glial cell line derived neurotrophic factor is expressed by epithelia of human renal dysplasia. 61 54
12441997 2002
8
Lack of aberrations of the BMP4, BMP2, and PTX1 genes in a patient with pituitary hypoplasia, os odontoideum, renal dysplasia, and right leg anomalies. 54 61
12165803 2002
9
Splice site mutation in the hepatocyte nuclear factor-1 beta gene, IVS2nt + 1G > A, associated with maturity-onset diabetes of the young, renal dysplasia and bicornuate uterus. 61 54
11317673 2001
10
Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene. 54 61
10654325 2000
11
Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330). 61 54
9760197 1998
12
Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. 54 61
9590287 1998
13
Neurturin, a novel neurotrophic factor, is localized to mouse chromosome 17 and human chromosome 19p13.3. 54 61
9286710 1997
14
Diagnosis of rhomboencephalosynapsis by MRI in a 5-year-old child. 61
32382369 2020
15
Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia. 61
32573094 2020
16
Sirenomelia (Mermaid Syndrome): A Case Report. 61
32525213 2020
17
Dietary sodium modulates nephropathy in Nedd4-2-deficient mice. 61
31802037 2020
18
Clinical Characteristics of Moyamoya Angiopathy in a Pediatric Cohort. 61
32089044 2020
19
Expanding the spectrum of CEP55-associated disease to viable phenotypes. 61
32100459 2020
20
[Ultrasonographic manifestation and genetic analysis of a fetus with nephronophthisis type 2]. 61
32335886 2020
21
Clinical and Pathological Features of a Newborn With Compound Heterozygous ANKS6 Variants. 61
31635528 2020
22
Hypoparathyroidism, deafness, and renal dysplasia syndrome: 20 Years after the identification of the first GATA3 mutations. 61
32442337 2020
23
Renal scarring is the most significant predictor of breakthrough febrile urinary tract infection in patients with simplex and duplex primary vesico-ureteral reflux. 61
31953013 2020
24
Overview of paediatric urology practice in lagos state university teaching hospital, Ikeja, Lagos, Nigeria. 61
32295945 2020
25
Renal dysplasia masquerading as a renal mass in a child on hemodialysis. 61
31975517 2020
26
Teriparatide (rhPTH 1-34) treatment in the pediatric age: long-term efficacy and safety data in a cohort with genetic hypoparathyroidism. 61
31705387 2020
27
Quercetin treatment reduces the severity of renal dysplasia in a beta-catenin dependent manner. 61
32555682 2020
28
Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA. 61
31433868 2019
29
Urinary apolipoprotein AI in children with kidney disease. 61
31230128 2019
30
Detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound. 61
31759543 2019
31
Familial congenital choanal atresia with GATA3 associated hypoparathyroidism-deafness-renal dysplasia syndrome unidentified on auditory brainstem response. 61
30396722 2019
32
Involvement of the centrosomal protein 55 (cep55) gene in zebrafish head formation. 61
31365163 2019
33
A Novel Role for GATA3 in Mesangial Cells in Glomerular Development and Injury. 61
31405951 2019
34
Immune-complex glomerulonephritis in cats: a retrospective study based on clinico-pathological data, histopathology and ultrastructural features. 61
31429743 2019
35
Congenital urinary tract obstruction. 61
30819578 2019
36
Multimodality depiction of findings in branchio-oto-renal syndrome: two case reports. 61
31384484 2019
37
A deadly trap for para-aortic lymph node dissection in patients with horseshoe kidney as a complication: a case report. 61
31109221 2019
38
Goldston syndrome with congenital hepatic fibrosis: A rare cause of neonatal cholestasis. 61
31218169 2019
39
Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood. 61
30327448 2019
40
Long-term growth in children with posterior urethral valves. 61
30948260 2019
41
A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia. 61
30791088 2019
42
[Genetic testing and pregnancy outcome of 337 fetuses with urinary system anomalies]. 61
30950013 2019
43
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. 61
30622327 2019
44
Videolaparoscopic lower pole heminephrectomy for treatment of a duplex kidney. 61
30661744 2019
45
Duplication of 10q24 locus: broadening the clinical and radiological spectrum. 61
30622331 2019
46
Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia. 61
30568244 2019
47
Current epidemiology and antenatal presentation of posterior urethral valves: Outcome of BAPS CASS National Audit. 61
30528204 2019
48
Analysis of 17 children with renal abscess. 61
31934162 2019
49
HDR Syndrome Accompanying Type 1 Diabetes Mellitus and Hypopituitarism. 61
31223507 2019
50
Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence? 61
31315107 2019
Sources

Variations for Renal Dysplasia

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ClinVar genetic disease variations for Renal Dysplasia:

6 (show top 50) (show all 350) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AGTR1 NM_031850.3(AGTR1):c.481C>T (p.Arg161Ter)SNV Pathogenic 50207 rs397514687 3:148459198-148459198 3:148741411-148741411
2 ACE NM_000789.4(ACE):c.1486C>T (p.Arg496Ter)SNV Pathogenic 50208 rs397514688 17:61560533-61560533 17:63483172-63483172
3 ACE NM_000789.4(ACE):c.2371C>T (p.Arg791Ter)SNV Pathogenic 50209 rs397514689 17:61566074-61566074 17:63488713-63488713
4 REN NM_000537.4(REN):c.127C>T (p.Arg43Ter)SNV Pathogenic 50210 rs397514690 1:204131263-204131263 1:204162135-204162135
5 REN NM_000537.4(REN):c.404C>A (p.Ser135Tyr)SNV Pathogenic 50211 rs397514691 1:204129776-204129776 1:204160648-204160648
6 REN NM_000537.4(REN):c.145C>T (p.Arg49Ter)SNV Pathogenic 13123 rs121917741 1:204131245-204131245 1:204162117-204162117
7 REN NM_000537.4(REN):c.689G>A (p.Arg230Lys)SNV Pathogenic 13124 rs121917742 1:204128527-204128527 1:204159399-204159399
8 ACE NM_000789.4(ACE):c.798C>G (p.Tyr266Ter)SNV Pathogenic 18063 rs121912704 17:61557840-61557840 17:63480479-63480479
9 ACE NM_000789.4(ACE):c.1319_1322del (p.Leu440fs)deletion Pathogenic 18064 rs387906576 17:61560027-61560030 17:63482666-63482669
10 AGT NM_000029.4(AGT):c.1124G>A (p.Arg375Gln)SNV Pathogenic 18070 rs74315283 1:230841679-230841679 1:230705933-230705933
11 AGT NM_000029.4(AGT):c.604C>T (p.Gln202Ter)SNV Pathogenic 18071 rs121912702 1:230845993-230845993 1:230710247-230710247
12 AGT NM_000029.4(AGT):c.1290del (p.Phe430fs)deletion Pathogenic 18072 rs387906578 1:230839055-230839055 1:230703309-230703309
13 AGTR1 NM_031850.3(AGTR1):c.215dup (p.Ile73fs)duplication Pathogenic 18066 rs387906577 3:148458931-148458932 3:148741144-148741145
14 AGTR1 NM_031850.3(AGTR1):c.950C>T (p.Thr317Met)SNV Pathogenic 18067 rs104893677 3:148459667-148459667 3:148741880-148741880
15 EBF3 NM_001005463.3(EBF3):c.512G>A (p.Gly171Asp)SNV Pathogenic 375375 rs1057519437 10:131755564-131755564 10:129957300-129957300
16 ACE NM_000789.4(ACE):c.12_31del (p.Ser5fs)deletion Pathogenic/Likely pathogenic 208559 rs797045079 17:61554467-61554486 17:63477106-63477125
17 ACE NM_000789.4(ACE):c.3503+1G>CSNV Likely pathogenic 559878 rs779188587 17:61573878-61573878 17:63496517-63496517
18 ACE NM_000789.4(ACE):c.2642-1G>ASNV Likely pathogenic 375298 rs778390161 17:61568314-61568314 17:63490953-63490953
19 ACE NM_000789.4(ACE):c.2858G>A (p.Arg953Gln)SNV Conflicting interpretations of pathogenicity 324409 rs143507892 17:61568688-61568688 17:63491327-63491327
20 ACE NM_000789.4(ACE):c.3132C>T (p.Ser1044=)SNV Conflicting interpretations of pathogenicity 718371 17:61571016-61571016 17:63493655-63493655
21 AGTR1 NM_031850.3(AGTR1):c.90G>A (p.Ser30=)SNV Conflicting interpretations of pathogenicity 732403 3:148458807-148458807 3:148741020-148741020
22 ACE NM_000789.4(ACE):c.3805C>T (p.Leu1269=)SNV Conflicting interpretations of pathogenicity 798009 17:61574611-61574611 17:63497250-63497250
23 REN NM_000537.4(REN):c.1118C>T (p.Pro373Leu)SNV Conflicting interpretations of pathogenicity 876615 1:204124247-204124247 1:204155119-204155119
24 REN NM_000537.4(REN):c.1032G>A (p.Thr344=)SNV Conflicting interpretations of pathogenicity 876616 1:204124975-204124975 1:204155847-204155847
25 ACE NM_000789.4(ACE):c.960G>A (p.Thr320=)SNV Conflicting interpretations of pathogenicity 729345 17:61558941-61558941 17:63481580-63481580
26 AGT NM_000029.4(AGT):c.696T>C (p.Pro232=)SNV Conflicting interpretations of pathogenicity 737578 1:230845901-230845901 1:230710155-230710155
27 REN NM_000537.4(REN):c.961-5C>ASNV Conflicting interpretations of pathogenicity 753683 1:204125051-204125051 1:204155923-204155923
28 REN NM_000537.4(REN):c.97C>T (p.Arg33Trp)SNV Conflicting interpretations of pathogenicity 873820 1:204135325-204135325 1:204166197-204166197
29 REN NM_000537.4(REN):c.45G>A (p.Leu15=)SNV Conflicting interpretations of pathogenicity 874781 1:204135377-204135377 1:204166249-204166249
30 ACE NM_000789.4(ACE):c.1522C>T (p.Arg508Ter)SNV Conflicting interpretations of pathogenicity 235336 rs367797185 17:61560855-61560855 17:63483494-63483494
31 REN NM_000537.4(REN):c.630C>T (p.Phe210=)SNV Conflicting interpretations of pathogenicity 294957 rs141706094 1:204128586-204128586 1:204159458-204159458
32 REN NM_000537.4(REN):c.492+12C>TSNV Conflicting interpretations of pathogenicity 294958 rs548625937 1:204129676-204129676 1:204160548-204160548
33 REN NM_000537.4(REN):c.1076A>T (p.Lys359Ile)SNV Conflicting interpretations of pathogenicity 294950 rs774166976 1:204124289-204124289 1:204155161-204155161
34 REN NM_000537.4(REN):c.744C>A (p.Asp248Glu)SNV Conflicting interpretations of pathogenicity 294954 rs747881047 1:204125879-204125879 1:204156751-204156751
35 REN NM_000537.4(REN):c.855C>T (p.Asp285=)SNV Conflicting interpretations of pathogenicity 294952 rs778959609 1:204125411-204125411 1:204156283-204156283
36 REN NM_000537.4(REN):c.398C>T (p.Ser133Leu)SNV Conflicting interpretations of pathogenicity 294960 rs756122840 1:204129782-204129782 1:204160654-204160654
37 REN NM_000537.4(REN):c.390C>T (p.Phe130=)SNV Conflicting interpretations of pathogenicity 294961 rs377092171 1:204129790-204129790 1:204160662-204160662
38 REN NM_000537.4(REN):c.663G>A (p.Glu221=)SNV Conflicting interpretations of pathogenicity 294955 rs34069565 1:204128553-204128553 1:204159425-204159425
39 REN NM_000537.4(REN):c.374-13G>ASNV Conflicting interpretations of pathogenicity 294962 rs201387583 1:204129819-204129819 1:204160691-204160691
40 ACE NM_000789.4(ACE):c.1872C>T (p.Pro624=)SNV Conflicting interpretations of pathogenicity 324388 rs138812566 17:61561853-61561853 17:63484492-63484492
41 ACE NM_000789.4(ACE):c.2299G>A (p.Glu767Lys)SNV Uncertain significance 324391 rs148995315 17:61564428-61564428 17:63487067-63487067
42 ACE NM_000789.4(ACE):c.2320A>G (p.Met774Val)SNV Uncertain significance 324393 rs559585445 17:61566023-61566023 17:63488662-63488662
43 ACE NM_000789.4(ACE):c.2415C>T (p.Tyr805=)SNV Uncertain significance 324394 rs761458810 17:61566118-61566118 17:63488757-63488757
44 ACE NM_000789.4(ACE):c.2460T>C (p.Asp820=)SNV Uncertain significance 324395 rs138035588 17:61566312-61566312 17:63488951-63488951
45 ACE NM_000789.4(ACE):c.2754G>A (p.Arg918=)SNV Uncertain significance 324406 rs145809210 17:61568584-61568584 17:63491223-63491223
46 ACE NM_000789.4(ACE):c.3038G>C (p.Gly1013Ala)SNV Uncertain significance 324412 rs540734174 17:61570922-61570922 17:63493561-63493561
47 ACE NM_000789.4(ACE):c.3133G>A (p.Asp1045Asn)SNV Uncertain significance 324415 rs140980792 17:61571017-61571017 17:63493656-63493656
48 ACE NM_000789.4(ACE):c.3721G>A (p.Gly1241Ser)SNV Uncertain significance 324418 rs367916721 17:61574527-61574527 17:63497166-63497166
49 ACE NM_000789.4(ACE):c.3769G>A (p.Val1257Met)SNV Uncertain significance 324419 rs759857038 17:61574575-61574575 17:63497214-63497214
50 ACE NM_000789.4(ACE):c.3884C>T (p.Pro1295Leu)SNV Uncertain significance 324422 rs886053226 17:61574690-61574690 17:63497329-63497329
Sources

Expression for Renal Dysplasia

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Search GEO for disease gene expression data for Renal Dysplasia.
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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 60
Show member pathways
 11.16 REN AGTR1 AGT ACE
2
Renin secretion 36
10.76 REN AGTR1 AGT ACE
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 nuclear chromatin GO:0000790 9.1 USF2 PAX2 LMX1B HNF1B GATA3 EBF3

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

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.98 USF2 SALL1 PAX2 HNF1B GATA3 EBF3
2 regulation of blood pressure GO:0008217 9.8 REN AGT ACE
3 branching involved in ureteric bud morphogenesis GO:0001658 9.72 SALL1 PAX2 GDNF
4 regulation of blood vessel diameter GO:0097746 9.67 AGTR1 ACE
5 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.67 AGTR1 AGT
6 cell fate determination GO:0001709 9.66 PAX2 GATA3
7 positive regulation of cellular protein metabolic process GO:0032270 9.66 AGTR1 AGT
8 sympathetic nervous system development GO:0048485 9.65 GDNF GATA3
9 amyloid-beta metabolic process GO:0050435 9.65 REN ACE
10 low-density lipoprotein particle remodeling GO:0034374 9.65 AGTR1 AGT
11 regulation of vasoconstriction GO:0019229 9.65 AGTR1 AGT ACE
12 positive regulation of transcription by RNA polymerase II GO:0045944 9.65 USF2 SALL1 PKD1 PAX2 LMX1B HNF1B
13 angiotensin maturation GO:0002003 9.64 REN ACE
14 metanephric collecting duct development GO:0072205 9.64 PKD1 PAX2
15 mesenchymal to epithelial transition GO:0060231 9.63 PAX2 GATA3
16 positive regulation of cholesterol esterification GO:0010873 9.63 AGTR1 AGT
17 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.63 PAX2 GDNF AGT
18 mesonephric tubule development GO:0072164 9.62 PKD1 HNF1B
19 positive regulation of NAD(P)H oxidase activity GO:0033864 9.61 AGTR1 AGT
20 mesonephric duct development GO:0072177 9.61 PKD1 HNF1B
21 pronephros development GO:0048793 9.6 PAX2 HNF1B
22 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.59 PAX2 GDNF
23 positive regulation of ureteric bud formation GO:0072107 9.58 GDNF GATA3
24 ureteric bud formation GO:0060676 9.58 GDNF GATA3
25 mesonephros development GO:0001823 9.58 REN PAX2 GATA3
26 regulation of renal sodium excretion GO:0035813 9.57 AGTR1 AGT
27 ureter maturation GO:0035799 9.56 PAX2 GATA3
28 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 9.54 PAX2 HNF1B
29 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.54 SALL1 PAX2 GDNF
30 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.52 AGTR1 AGT
31 regulation of blood volume by renin-angiotensin GO:0002016 9.51 REN AGT
32 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.5 AGTR1 AGT ACE
33 regulation of renal output by angiotensin GO:0002019 9.49 AGT ACE
34 renin-angiotensin regulation of aldosterone production GO:0002018 9.43 REN AGTR1 AGT
35 nephric duct formation GO:0072179 9.33 PAX2 HNF1B GATA3
36 kidney development GO:0001822 9.23 SALL1 REN PKD1 HNF1B GATA3 AGTR1

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.92 USF2 SALL1 PAX2 LMX1B HNF1B GATA3
2 DNA-binding transcription factor activity GO:0003700 9.7 USF2 SALL1 PAX2 LMX1B HNF1B GATA3
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.5 USF2 PAX2 LMX1B HNF1B GATA3 EBF3
4 proximal promoter sequence-specific DNA binding GO:0000987 9.43 PAX2 HNF1B GATA3
5 bradykinin receptor binding GO:0031711 8.62 AGTR1 ACE
Sources

Sources for Renal Dysplasia

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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
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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
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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