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MCID: RNL078
MIFTS: 46

Renal Dysplasia

Categories: Nephrological diseases, Fetal 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 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

About this section
MalaCards based summary : Renal Dysplasia, also known as renal cell dysplasia, is related to renal dysplasia, cystic and senior-løken syndrome. An important gene associated with Renal Dysplasia is ACE (Angiotensin I Converting Enzyme), and among its related pathways/superpathways are Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics and Renin secretion. The drugs Ropivacaine and Ibuprofen have been mentioned in the context of this disorder. Affiliated tissues include kidney, uterus and testis, 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 194)
# Related Disease Score Top Affiliating Genes
1 renal dysplasia, cystic 34.3 BICC1 CEP290
2 senior-løken syndrome 32.6 CEP290 NPHP4
3 senior-loken syndrome 1 32.4 CEP290 IFT140 NPHP4 SDCCAG8
4 multicystic dysplastic kidney 31.7 PAX2 REN
5 oligomeganephronia 30.6 HNF1B PAX2
6 posterior urethral valves 30.6 ACE AGT AGTR1
7 renal hypodysplasia/aplasia 1 30.6 GDNF PAX2 SALL1
8 congenital hepatic fibrosis 30.3 AGTR1 REN
9 hypertensive heart disease 30.1 ACE AGT AGTR1
10 oligohydramnios 29.9 ACE AGT AGTR1 REN
11 malignant hypertension 29.7 ACE AGT AGTR1 REN
12 stroke, ischemic 29.3 ACE AGTR1 GDNF REN
13 vesicoureteral reflux 1 29.0 AGT AGTR1 PAX2 REN
14 renal dysplasia-limb defects syndrome 12.3
15 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 12.1
16 renal dysplasia diffuse cystic 12.0
17 torticollis, keloids, cryptorchidism, and renal dysplasia 12.0
18 renal dysplasia, unilateral 11.9
19 renal dysplasia, bilateral 11.9
20 congenital anomalies of kidney and urinary tract 2 11.8
21 renal dysplasia diffuse autosomal recessive 11.8
22 hypoparathyroidism, sensorineural deafness, and renal disease 11.6
23 bilateral multicystic dysplastic kidney 11.3
24 short-rib thoracic dysplasia 9 with or without polydactyly 11.2
25 unilateral multicystic dysplastic kidney 11.1
26 selig benacerraf greene syndrome 11.1
27 perlman syndrome 11.1
28 vater/vacterl association 11.0
29 bardet-biedl syndrome 10 11.0
30 nail-patella syndrome 11.0
31 say syndrome 11.0
32 joubert syndrome with oculorenal anomalies 10.9 CEP290 NPHP4
33 pediatric hypertension 10.9 ACE AGT
34 renal hypodysplasia/aplasia 2 10.9
35 hyporeninemic hypoaldosteronism 10.8 ACE REN
36 renal artery obstruction 10.8 ACE REN
37 urethral obstruction sequence 10.8
38 brachymesomelia-renal syndrome 10.8
39 branchiootorenal syndrome 2 10.8
40 branchiootorenal syndrome 1 10.8
41 fraser jequier chen syndrome 10.8
42 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 10.8
43 bifid nose with or without anorectal and renal anomalies 10.7
44 alagille syndrome 1 10.7
45 corpus callosum, agenesis of, with abnormal genitalia 10.7
46 fanconi anemia, complementation group b 10.7
47 culler-jones syndrome 10.7
48 acrocephalopolydactylous dysplasia 10.7
49 pallister-hall syndrome 10.7
50 renal-hepatic-pancreatic dysplasia 10.7

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 10.25 ACE AGT AGTR1 BICC1 CEP290 GATA3
2 mortality/aging MP:0010768 10.2 GDNF HNF1B IFT140 LMX1B PAX2 REN
3 growth/size/body region MP:0005378 10.15 ACE AGT AGTR1 BICC1 CEP290 GATA3
4 cellular MP:0005384 10.1 BICC1 CEP290 GATA3 GDNF IFT140 LMX1B
5 nervous system MP:0003631 10.07 AGT AGTR1 CEP290 EBF3 GATA3 GDNF
6 renal/urinary system MP:0005367 10.03 GDNF HNF1B IFT140 LMX1B NPHP4 PAX2
7 reproductive system MP:0005389 9.61 GDNF NPHP4 PAX2 REN ACE AGT
8 vision/eye MP:0005391 9.17 CEP290 GATA3 IFT140 LMX1B NPHP4 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 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ropivacaine Approved Not Applicable 84057-95-4 71273 175805
2
Ibuprofen Approved Not Applicable 15687-27-1 3672
3 Central Nervous System Depressants Not Applicable
4 Anesthetics Not Applicable
5 Anesthetics, Local Not Applicable
6 Peripheral Nervous System Agents Not Applicable
7 Analgesics Not Applicable
8 Cyclooxygenase Inhibitors Not Applicable
9 Analgesics, Non-Narcotic Not Applicable
10 Anti-Inflammatory Agents Not Applicable
11 Anti-Inflammatory Agents, Non-Steroidal Not Applicable
12 Antirheumatic Agents Not Applicable
13 diuretics Not Applicable
14 Natriuretic Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Correlation Between Renal Injury and Biomarkers in Pediatric Ureteropelvic Junction Obstruction Patients Unknown status NCT01711996
2 Ureteropelvic Junction Obstruction in Early Childhood: Comparison of Surgical Therapy and Surveillance. A Prospective, Randomized, Controlled Multi-Center Study Unknown status NCT00444431 Not Applicable
3 The Efficacy and Safety of Local Anesthetic Infusion With Ropivacaine Completed NCT00930046 Not Applicable
4 Dismembered Pyeloplasty With and Without After Coming Stent Completed NCT02138877 Not Applicable
5 Randomized Trial of NSAID vs Placebo Prior to Ureteral Stent Removal Recruiting NCT02140970 Not Applicable Ibuprofen;Placebo
6 Diagnostic Relevance of Laser Confocal Microscopy for the Screening of Upper Urinary Tract Tumors Active, not recruiting NCT02276924 Not Applicable
7 Ambulatory Blood Pressure Measurement in Children With Congenital Urine Flow Obstruction Available NCT00764543
8 CTT on Renogram as an Early Marker of Significant Obstruction in Uretero-pelvic Junction Syndrome Not yet recruiting NCT02812212 Not Applicable
9 Indwelling Double-J Ureteral Stent Versus Externalized Modified-Salle Stent for Pyeloplasty Terminated NCT02713633 Not Applicable

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:

41
Kidney, Uterus, Testis, Pituitary, Prostate, Placenta, Pancreas
Sources

Publications for Renal Dysplasia

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Articles related to Renal Dysplasia:

(show top 50) (show all 358)
# 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
Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome. ( 28303854 )
2017
5
Unilateral multicystic renal dysplasia: Prenatal diagnosis on ultrasound. ( 28748898 )
2017
6
Hypoparathyroidism, Deafness & Renal Dysplasia (HDR) Syndrome & GATA3. ( 29025137 )
2017
7
Renal dysplasia characterized by prominent cartilaginous metaplasia lesions in VACTERL association: A case report. ( 28403078 )
2017
8
A questionnaire survey of radiological diagnosis and management of renal dysplasia in children. ( 28647851 )
2017
9
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
10
A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome. ( 28524840 )
2017
11
Renal dysplasia in the neonate. ( 26849006 )
2016
12
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
13
EP10.04: Congenital dwarfism with renal dysplasia: case report. ( 27645547 )
2016
14
Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome. ( 27387476 )
2016
15
Stromal I^-catenin overexpression contributes to the pathogenesis of renal dysplasia. ( 26956838 )
2016
16
Unilateral congenital giant megaureter with renal dysplasia compressing contralateral ureter and causing bilateral hydronephrosis: a case report and literature review. ( 26860315 )
2016
17
A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome. ( 26777049 )
2015
18
Renal dysplasia. ( 25822765 )
2015
19
Tumoral calcinosis in a patient with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome undergoing hemodialysis. ( 25767699 )
2015
20
Bilateral Renal Dysplasia, Nephroblastomatosis, and Bronchial Stenosis. A New Syndrome? ( 25871299 )
2015
21
A novel loss-of-function mutation of GATA3 (p.R299Q) in a Japanese family with Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) syndrome. ( 26514990 )
2015
22
Potential Usefulness of 99mTc-DMSA for Radio-Guided Surgery in Pediatric Renal Dysplasia. ( 26462041 )
2015
23
Renal dysplasia in Bardet-Biedl syndrome. ( 26076793 )
2015
24
The Syndrome of Familial Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia. ( 26710407 )
2015
25
The Good and Bad of I^-Catenin in Kidney Development and Renal Dysplasia. ( 26734608 )
2015
26
The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome. ( 26316437 )
2015
27
Bilateral renal dysplasia, hydronephrosis, and hydroureter in a septic neonatal foal. ( 25750445 )
2015
28
GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome. ( 25124981 )
2014
29
Allelic variation in the canine Cox-2 promoter causes hypermethylation of the canine Cox-2 promoter in clinical cases of renal dysplasia. ( 24708682 )
2014
30
Non-invasive renal artery embolization for renal dysplasia accompanied by hypertension. ( 24548196 )
2014
31
Ectopic ureter, renal dysplasia, and recurrent epididymitis in an infant: case report and review of the literature. ( 25356227 )
2014
32
Spontaneous unilateral renal dysplasia in a clinically healthy cynomolgus monkey (Macaca fascicularis). ( 25053241 )
2014
33
I^-catenin overexpression in the metanephric mesenchyme leads to renal dysplasia genesis via cell-autonomous and non-cell-autonomous mechanisms. ( 24637293 )
2014
34
Fetal and Postnatal Magnetic Resonance Imaging of Unilateral Cystic Renal Dysplasia in a Neonate with Tuberous Sclerosis. ( 24495558 )
2014
35
Renal dysplasia with the ipsilateral ectopic ureter mimicking abscess of the prostate. ( 24665582 )
2014
36
Neonatal diagnosis of a patient with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome associated with cerebral infarction. ( 24859509 )
2014
37
TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia. ( 24382792 )
2014
38
Bilateral diffuse cystic renal dysplasia in a 9-day-old Thoroughbred filly. ( 24489392 )
2014
39
The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. ( 24166810 )
2013
40
Ahsa1 and Hsp90 activity confers more severe craniofacial phenotypes in a zebrafish model of hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR). ( 23720234 )
2013
41
Parathyroid hormone-independent hypercalcemia in an infant with renal dysplasia: possible role of PTHrP. ( 23327815 )
2013
42
A novel GATA3 nonsense mutation in a newly diagnosed adult patient of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. ( 23186964 )
2013
43
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation. ( 21845392 )
2013
44
Transumbilical multiport laparoscopic nephroureterectomy for congenital renal dysplasia in children: midterm follow-up from a single institution. ( 24400291 )
2013
45
Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia. ( 23262432 )
2013
46
Primary intra-renal teratoma associated with renal dysplasia: an unusual entity. ( 24426520 )
2013
47
Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia. ( 21922595 )
2012
48
Pediatric hydronephrotic segmental renal dysplasia with ipsilateral ureterovesical obstruction--rare coincidence or a consequence? ( 22414265 )
2012
49
Matrilysin (MMP-7) inhibition of BMP-7 induced renal tubular branching morphogenesis suggests a role in the pathogenesis of human renal dysplasia. ( 22215634 )
2012
50
Segmental renal dysplasia presenting as a solid mass on sonography. ( 22368144 )
2012
Sources

Variations for Renal Dysplasia

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ClinVar genetic disease variations for Renal Dysplasia:

6
(show top 50) (show all 396)
# 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.215dupT (p.Ile73Hisfs) duplication Pathogenic rs387906577 GRCh37 Chromosome 3, 148458932: 148458932
10 AGTR1 NM_031850.3(AGTR1): c.215dupT (p.Ile73Hisfs) duplication Pathogenic rs387906577 GRCh38 Chromosome 3, 148741145: 148741145
11 AGTR1 NM_031850.3(AGTR1): c.950C> T (p.Thr317Met) single nucleotide variant Pathogenic rs104893677 GRCh37 Chromosome 3, 148459667: 148459667
12 AGTR1 NM_031850.3(AGTR1): c.950C> T (p.Thr317Met) single nucleotide variant Pathogenic rs104893677 GRCh38 Chromosome 3, 148741880: 148741880
13 AGT NM_000029.3(AGT): c.1124G> A (p.Arg375Gln) single nucleotide variant Pathogenic rs74315283 GRCh37 Chromosome 1, 230841679: 230841679
14 AGT NM_000029.3(AGT): c.1124G> A (p.Arg375Gln) single nucleotide variant Pathogenic rs74315283 GRCh38 Chromosome 1, 230705933: 230705933
15 AGT NM_000029.3(AGT): c.604C> T (p.Gln202Ter) single nucleotide variant Pathogenic rs121912702 GRCh37 Chromosome 1, 230845993: 230845993
16 AGT NM_000029.3(AGT): c.604C> T (p.Gln202Ter) single nucleotide variant Pathogenic rs121912702 GRCh38 Chromosome 1, 230710247: 230710247
17 AGT NM_000029.3(AGT): c.1290delT (p.Phe430Leufs) deletion Pathogenic rs387906578 GRCh37 Chromosome 1, 230839055: 230839055
18 AGT NM_000029.3(AGT): c.1290delT (p.Phe430Leufs) deletion Pathogenic rs387906578 GRCh38 Chromosome 1, 230703309: 230703309
19 AGTR1 NM_031850.3(AGTR1): c.356G> A (p.Trp119Ter) single nucleotide variant Likely pathogenic rs398122935 GRCh37 Chromosome 3, 148459073: 148459073
20 AGTR1 NM_031850.3(AGTR1): c.356G> A (p.Trp119Ter) single nucleotide variant Likely pathogenic rs398122935 GRCh38 Chromosome 3, 148741286: 148741286
21 AGTR1 NM_031850.3(AGTR1): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs397514687 GRCh37 Chromosome 3, 148459198: 148459198
22 AGTR1 NM_031850.3(AGTR1): c.481C> T (p.Arg161Ter) single nucleotide variant Pathogenic rs397514687 GRCh38 Chromosome 3, 148741411: 148741411
23 ACE NM_000789.3(ACE): c.1486C> T (p.Arg496Ter) single nucleotide variant Pathogenic rs397514688 GRCh37 Chromosome 17, 61560533: 61560533
24 ACE NM_000789.3(ACE): c.1486C> T (p.Arg496Ter) single nucleotide variant Pathogenic rs397514688 GRCh38 Chromosome 17, 63483172: 63483172
25 ACE NM_000789.3(ACE): c.2371C> T (p.Arg791Ter) single nucleotide variant Pathogenic rs397514689 GRCh37 Chromosome 17, 61566074: 61566074
26 ACE NM_000789.3(ACE): c.2371C> T (p.Arg791Ter) single nucleotide variant Pathogenic rs397514689 GRCh38 Chromosome 17, 63488713: 63488713
27 REN NM_000537.3(REN): c.127C> T (p.Arg43Ter) single nucleotide variant Pathogenic rs397514690 GRCh37 Chromosome 1, 204131263: 204131263
28 REN NM_000537.3(REN): c.127C> T (p.Arg43Ter) single nucleotide variant Pathogenic rs397514690 GRCh38 Chromosome 1, 204162135: 204162135
29 REN NM_000537.3(REN): c.404C> A (p.Ser135Tyr) single nucleotide variant Pathogenic rs397514691 GRCh37 Chromosome 1, 204129776: 204129776
30 REN NM_000537.3(REN): c.404C> A (p.Ser135Tyr) single nucleotide variant Pathogenic rs397514691 GRCh38 Chromosome 1, 204160648: 204160648
31 ACE NM_000789.3(ACE): c.12_31del20 (p.Ser5Alafs) deletion Pathogenic/Likely pathogenic rs797045079 GRCh37 Chromosome 17, 61554467: 61554486
32 ACE NM_000789.3(ACE): c.12_31del20 (p.Ser5Alafs) deletion Pathogenic/Likely pathogenic rs797045079 GRCh38 Chromosome 17, 63477106: 63477125
33 ACE NM_000789.3(ACE): c.1522C> T (p.Arg508Ter) single nucleotide variant Pathogenic/Likely pathogenic rs367797185 GRCh37 Chromosome 17, 61560855: 61560855
34 ACE NM_000789.3(ACE): c.1522C> T (p.Arg508Ter) single nucleotide variant Pathogenic/Likely pathogenic rs367797185 GRCh38 Chromosome 17, 63483494: 63483494
35 REN NM_000537.3(REN): c.204A> C (p.Thr68=) single nucleotide variant Benign rs5705 GRCh37 Chromosome 1, 204131186: 204131186
36 REN NM_000537.3(REN): c.204A> C (p.Thr68=) single nucleotide variant Benign rs5705 GRCh38 Chromosome 1, 204162058: 204162058
37 AGT NM_000029.3(AGT): c.1116A> G (p.Leu372=) single nucleotide variant Benign rs7080 GRCh38 Chromosome 1, 230705941: 230705941
38 AGT NM_000029.3(AGT): c.1116A> G (p.Leu372=) single nucleotide variant Benign rs7080 GRCh37 Chromosome 1, 230841687: 230841687
39 AGTR1 NM_000685.4(AGTR1): c.573C> T (p.Leu191=) single nucleotide variant Benign rs5182 GRCh37 Chromosome 3, 148459395: 148459395
40 AGTR1 NM_000685.4(AGTR1): c.573C> T (p.Leu191=) single nucleotide variant Benign rs5182 GRCh38 Chromosome 3, 148741608: 148741608
41 AGTR1 NM_000685.4(AGTR1): c.1062A> G (p.Pro354=) single nucleotide variant Benign rs5183 GRCh37 Chromosome 3, 148459884: 148459884
42 AGTR1 NM_000685.4(AGTR1): c.1062A> G (p.Pro354=) single nucleotide variant Benign rs5183 GRCh38 Chromosome 3, 148742097: 148742097
43 ACE NM_000789.3(ACE): c.582C> T (p.Asn194=) single nucleotide variant Benign rs4298 GRCh38 Chromosome 17, 63479839: 63479839
44 ACE NM_000789.3(ACE): c.582C> T (p.Asn194=) single nucleotide variant Benign rs4298 GRCh37 Chromosome 17, 61557200: 61557200
45 ACE NM_000789.3(ACE): c.655+13C> T single nucleotide variant Likely benign rs4300 GRCh38 Chromosome 17, 63479925: 63479925
46 ACE NM_000789.3(ACE): c.655+13C> T single nucleotide variant Likely benign rs4300 GRCh37 Chromosome 17, 61557286: 61557286
47 ACE NM_000789.3(ACE): c.1215C> T (p.Pro405=) single nucleotide variant Benign rs4309 GRCh38 Chromosome 17, 63482562: 63482562
48 ACE NM_000789.3(ACE): c.1215C> T (p.Pro405=) single nucleotide variant Benign rs4309 GRCh37 Chromosome 17, 61559923: 61559923
49 ACE NM_000789.3(ACE): c.2193A> G (p.Ala731=) single nucleotide variant Benign rs4331 GRCh38 Chromosome 17, 63486691: 63486691
50 ACE NM_000789.3(ACE): c.2193A> G (p.Ala731=) single nucleotide variant Benign rs4331 GRCh37 Chromosome 17, 61564052: 61564052
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 38)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.94 BICC1 GATA3 IFT140 SALL1
2 ciliary basal body-plasma membrane docking GO:0097711 9.82 CEP290 NPHP4 SDCCAG8
3 regulation of blood pressure GO:0008217 9.79 ACE AGT REN
4 branching involved in ureteric bud morphogenesis GO:0001658 9.78 GDNF PAX2 SALL1
5 regulation of vasoconstriction GO:0019229 9.69 ACE AGT AGTR1
6 renal system development GO:0072001 9.68 GATA3 IFT140
7 hindbrain development GO:0030902 9.67 CEP290 HNF1B
8 cell fate determination GO:0001709 9.67 GATA3 PAX2
9 positive regulation of cellular protein metabolic process GO:0032270 9.67 AGT AGTR1
10 sympathetic nervous system development GO:0048485 9.66 GATA3 GDNF
11 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.66 AGT AGTR1
12 amyloid-beta metabolic process GO:0050435 9.65 ACE REN
13 regulation of blood vessel diameter GO:0097746 9.65 ACE AGTR1
14 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.65 AGT GDNF PAX2
15 low-density lipoprotein particle remodeling GO:0034374 9.64 AGT AGTR1
16 photoreceptor cell outer segment organization GO:0035845 9.63 IFT140 NPHP4
17 mesenchymal to epithelial transition GO:0060231 9.63 GATA3 PAX2
18 positive regulation of cholesterol esterification GO:0010873 9.62 AGT AGTR1
19 positive regulation of NAD(P)H oxidase activity GO:0033864 9.61 AGT AGTR1
20 mesonephros development GO:0001823 9.61 GATA3 PAX2 REN
21 positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0072108 9.6 GDNF PAX2
22 ureter maturation GO:0035799 9.59 GATA3 PAX2
23 regulation of renal sodium excretion GO:0035813 9.58 AGT AGTR1
24 positive regulation of ureteric bud formation GO:0072107 9.58 GATA3 GDNF
25 angiotensin maturation GO:0002003 9.58 ACE AGT REN
26 ureteric bud formation GO:0060676 9.57 GATA3 GDNF
27 negative regulation of mesenchymal cell apoptotic process involved in metanephros development GO:1900212 9.56 HNF1B PAX2
28 regulation of blood vessel diameter by renin-angiotensin GO:0002034 9.55 AGT AGTR1
29 regulation of blood volume by renin-angiotensin GO:0002016 9.54 AGT REN
30 mesenchymal to epithelial transition involved in metanephros morphogenesis GO:0003337 9.54 GDNF PAX2 SALL1
31 regulation of renal output by angiotensin GO:0002019 9.52 ACE AGT
32 pronephros development GO:0048793 9.5 CEP290 HNF1B PAX2
33 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.43 ACE AGT AGTR1
34 renin-angiotensin regulation of aldosterone production GO:0002018 9.33 AGT AGTR1 REN
35 kidney development GO:0001822 9.17 ACE AGT AGTR1 GATA3 HNF1B REN
36 nephric duct formation GO:0072179 9.13 GATA3 HNF1B PAX2
37 positive regulation of transcription by RNA polymerase II GO:0045944 10.1 CDC5L EBF3 GATA3 GDNF HNF1B LMX1B
38 positive regulation of transcription, DNA-templated GO:0045893 10 AGT CEP290 EBF3 GATA3 HNF1B PAX2

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.87 CDC5L EBF3 GATA3 HNF1B LMX1B PAX2
2 sequence-specific DNA binding GO:0043565 9.77 CDC5L GATA3 HNF1B LMX1B SALL1
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.56 CDC5L GATA3 HNF1B LMX1B
4 transcription regulatory region DNA binding GO:0044212 9.35 CDC5L GATA3 HNF1B PAX2 SALL1
5 proximal promoter sequence-specific DNA binding GO:0000987 9.33 GATA3 HNF1B PAX2
6 bradykinin receptor binding GO:0031711 8.62 ACE AGTR1
Sources

Sources for Renal Dysplasia

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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
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40 LOVD
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51 NDF-RT
54 NINDS
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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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