CYSRD
MCID: RNL094
MIFTS: 42

Renal Dysplasia, Cystic (CYSRD)

Categories: Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Renal Dysplasia, Cystic

MalaCards integrated aliases for Renal Dysplasia, Cystic:

Name: Renal Dysplasia, Cystic 57 72
Renal Dysplasia, Cystic, Susceptibility to 57 29 13 6
Diffuse Cystic Renal Dysplasia 12 20 15
Cysrd 57 12 72
Renal Dysplasia Diffuse Cystic 12 20
Multicystic Dysplastic Kidney 44 70
Cystic Renal Dysplasia 29 6
Dysplasia, Renal, Cystic, Susceptibility to 39
Susceptibility to Cystic Renal Dysplasia 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in utero
two unrelated patients with confirmed mutations have been reported (as of january 2012)


HPO:

31
renal dysplasia, cystic:
Inheritance autosomal dominant inheritance
Onset and clinical course antenatal onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111682
OMIM® 57 601331
MeSH 44 D021782
UMLS 70 C3714581

Summaries for Renal Dysplasia, Cystic

UniProtKB/Swiss-Prot : 72 Renal dysplasia, cystic: An anomaly of the kidney characterized by numerous renal cysts and apparent disorder of differentiation of the renal parenchyma. Kidney of affected individuals lack the normal renal bean shape, and the collection drainage system. The cystic, dysplastic kidney contains undifferentiated mesenchyme, cartilaginous tissue, and immature collecting ducts.

MalaCards based summary : Renal Dysplasia, Cystic, also known as renal dysplasia, cystic, susceptibility to, is related to renal dysplasia and cystic kidney disease. An important gene associated with Renal Dysplasia, Cystic is BICC1 (BicC Family RNA Binding Protein 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. The drugs Pharmaceutical Solutions and Ibuprofen have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related phenotypes are vesicoureteral reflux and renal insufficiency

Disease Ontology : 12 A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has material basis in heterozygous mutation in BICC1 on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder.

More information from OMIM: 601331

Related Diseases for Renal Dysplasia, Cystic

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

(show top 50) (show all 175)
# Related Disease Score Top Affiliating Genes
1 renal dysplasia 30.8 PKD1 BICC1
2 cystic kidney disease 30.5 PKD1 NPHP3 CEP290
3 caroli disease 30.2 PKD1 NPHP3
4 kidney disease 30.0 PKD1 NPHP3 CEP290 CASR
5 asphyxiating thoracic dystrophy 29.6 TULP3 NPHP3 CEP290
6 polycystic kidney disease 4 with or without polycystic liver disease 29.6 PKD1 NPHP3 CEP290 BICC1
7 polycystic kidney disease 1 with or without polycystic liver disease 29.4 TULP3 PKD1 NPHP3 CEP290 BICC1
8 polycystic kidney disease 29.3 PKD1 NPHP3 INPP5E CEP290 CASR
9 bardet-biedl syndrome 29.3 TULP3 PKD1 NPHP3 INPP5E CEP290
10 multicystic dysplastic kidney 11.9
11 unilateral multicystic dysplastic kidney 11.6
12 congenital anomalies of kidney and urinary tract 2 11.4
13 bilateral multicystic dysplastic kidney 11.4
14 cakut 11.3
15 ritscher-schinzel syndrome 1 11.2
16 say syndrome 11.1
17 meckel syndrome, type 7 11.1
18 vesicoureteral reflux 1 10.8
19 urinary tract infection 10.7
20 hydronephrosis 10.6
21 ureterocele 10.5
22 proteinuria, chronic benign 10.5
23 renal hypodysplasia/aplasia 1 10.5
24 acute cystitis 10.5
25 autosomal dominant tubulointerstitial kidney disease 10.4
26 renal cell carcinoma, nonpapillary 10.3
27 renal hypoplasia 10.3
28 nephronophthisis 1 10.2 PKD1 NPHP3
29 coarctation of aorta 10.2
30 neural tube defects 10.2
31 williams-beuren syndrome 10.2
32 hypospadias 10.2
33 pyelonephritis 10.2
34 oligohydramnios 10.2
35 heart septal defect 10.2
36 turner syndrome 10.2
37 bartter disease 10.2
38 ureteral obstruction 10.2
39 chronic kidney disease 10.2
40 polyhydramnios 10.2
41 48,xyyy 10.2
42 horseshoe kidney 10.2
43 nephronophthisis 7 10.2 NPHP3 CEP290
44 ciliopathy 10.2
45 retinal ciliopathy 10.2 INPP5E CEP290
46 nephronophthisis 11 10.2 NPHP3 CEP290
47 joubert syndrome 8 10.1 NPHP3 CEP290
48 nephronophthisis 14 10.1 NPHP3 CEP290
49 nephronophthisis 19 10.1 NPHP3 CEP290
50 nephronophthisis 12 10.1 NPHP3 CEP290

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



Diseases related to Renal Dysplasia, Cystic

Symptoms & Phenotypes for Renal Dysplasia, Cystic

Human phenotypes related to Renal Dysplasia, Cystic:

31
# Description HPO Frequency HPO Source Accession
1 vesicoureteral reflux 31 occasional (7.5%) HP:0000076
2 renal insufficiency 31 HP:0000083
3 renal dysplasia 31 HP:0000110
4 cystic renal dysplasia 31 HP:0000800
5 hyperechogenic kidneys 31 HP:0004719

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Kidneys:
renal dysplasia
hyperechogenic kidneys
renal cysts
decreased renal function

Genitourinary Bladder:
vesicoureteral reflux (in 1 patient)

Cardiovascular Vascular:
arterial hypertension (in 1 patient)

Clinical features from OMIM®:

601331 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Renal Dysplasia, Cystic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.08 BICC1 CASR CEP290 INPP5E NPHP3 PKD1
2 craniofacial MP:0005382 10 BICC1 CASR CEP290 INPP5E NPHP3 PKD1
3 growth/size/body region MP:0005378 9.97 BICC1 CASR CEP290 INPP5E NPHP3 PKD1
4 embryo MP:0005380 9.88 BICC1 CASR INPP5E NPHP3 PKD1 TULP3
5 hematopoietic system MP:0005397 9.87 BICC1 CASR CEP290 NPHP3 PKD1 SLC7A11
6 homeostasis/metabolism MP:0005376 9.86 BICC1 CASR CEP290 NPHP3 NT5C1A PKD1
7 digestive/alimentary MP:0005381 9.83 BICC1 CASR INPP5E PKD1 TULP3
8 nervous system MP:0003631 9.7 BICC1 CASR CEP290 INPP5E NPHP3 PKD1
9 renal/urinary system MP:0005367 9.5 BICC1 CASR CEP290 INPP5E NPHP3 PKD1
10 skeleton MP:0005390 9.1 CASR CEP290 INPP5E NPHP3 PKD1 TULP3

Drugs & Therapeutics for Renal Dysplasia, Cystic

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 1
2
Ibuprofen Approved 15687-27-1 3672
3
Ropivacaine Approved 84057-95-4 71273 175805
4 diuretics
5 Analgesics, Non-Narcotic
6 Analgesics
7 Antirheumatic Agents
8 Cyclooxygenase Inhibitors
9 Anti-Inflammatory Agents
10 Anti-Inflammatory Agents, Non-Steroidal
11 Anesthetics
12 Anesthetics, Local

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Renal Anhydramnios Fetal Therapy (RAFT) Trial Recruiting NCT03101891 Phase 1 Isotonic fluid
2 Ureteropelvic Junction Obstruction in Early Childhood: Comparison of Surgical Therapy and Surveillance in Children With Scintigraphically Prooved Obstruction. A Prospective, Randomized, Controlled Multi-Center Study Unknown status NCT00444431
3 Cortical Transit Time on Diuretic Renogram as an Early Marker of Significant Obstruction in Antenatally Detected Uretero-pelvic Junction Syndrome Unknown status NCT02812212
4 The Correlation Between Renal Injury and Biomarkers in Pediatric Ureteropelvic Junction Obstruction Patients Unknown status NCT01711996
5 Double-blind, Placebo-controlled Randomized Controlled Trial of NSAID Prior to Ureteral Stent Removal in a Pediatric Population Recruiting NCT02140970 Ibuprofen;Placebo
6 Ambulatory Blood Pressure Measurement in Children With Congenital Urine Flow Obstruction No longer available NCT00764543
7 Prospective Randomized Trial of Indwelling Double-J Ureteral Stent Versus Externalized Modified-Salle Stent for Pyeloplasty Terminated NCT02713633
8 The Efficacy and Safety of Local Anesthetic Infusion With Ropivacaine for the Management of Pain After Surgical Correction of Ureteropelvic Junction Stenosis Terminated NCT00930046

Search NIH Clinical Center for Renal Dysplasia, Cystic

Cochrane evidence based reviews: multicystic dysplastic kidney

Genetic Tests for Renal Dysplasia, Cystic

Genetic tests related to Renal Dysplasia, Cystic:

# Genetic test Affiliating Genes
1 Renal Dysplasia, Cystic, Susceptibility to 29 BICC1
2 Cystic Renal Dysplasia 29

Anatomical Context for Renal Dysplasia, Cystic

MalaCards organs/tissues related to Renal Dysplasia, Cystic:

40
Kidney

Publications for Renal Dysplasia, Cystic

Articles related to Renal Dysplasia, Cystic:

# Title Authors PMID Year
1
Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia. 57 6
21922595 2012
2
Diffuse cystic renal dysplasia: nonsyndromal familial case. 57
8725780 1996
3
Bilateral renal dysplasia in three siblings: report of a survivor. 57
1253459 1976
4
[Neonatal uro-haematoma secondary to posterior urethral valve]. 61
15822395 2005
5
Case report: cystic partially differentiated nephroblastoma (Wilms tumor). 61
219264 1979

Variations for Renal Dysplasia, Cystic

ClinVar genetic disease variations for Renal Dysplasia, Cystic:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PKD1 NM_001009944.3(PKD1):c.5896_5898GTG[1] (p.Val1967del) Microsatellite Pathogenic 523387 rs1555454847 GRCh37: 16:2159267-2159269
GRCh38: 16:2109266-2109268
2 BICC1 NM_001080512.3(BICC1):c.199G>T (p.Glu67Ter) SNV Pathogenic 997450 GRCh37: 10:60380623-60380623
GRCh38: 10:58620863-58620863
3 CEP290 NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter) SNV Pathogenic 217635 rs376493409 GRCh37: 12:88476938-88476938
GRCh38: 12:88083161-88083161
4 CEP290 NM_025114.4(CEP290):c.5710-3C>G SNV Likely pathogenic 523535 rs1555202126 GRCh37: 12:88465706-88465706
GRCh38: 12:88071929-88071929
5 BICC1 NM_001080512.3(BICC1):c.259C>T (p.Gln87Ter) SNV risk factor 31153 rs387907123 GRCh37: 10:60461855-60461855
GRCh38: 10:58702095-58702095
6 BICC1 NM_001080512.3(BICC1):c.2795A>G (p.Glu932Gly) SNV risk factor 31154 rs387907124 GRCh37: 10:60588521-60588521
GRCh38: 10:58828761-58828761
7 BICC1 NM_001080512.3(BICC1):c.933G>A (p.Met311Ile) SNV Uncertain significance 830010 rs1348392909 GRCh37: 10:60549579-60549579
GRCh38: 10:58789819-58789819
8 UNC13C NM_001080534.3(UNC13C):c.283C>T (p.Arg95Ter) SNV Uncertain significance 982686 GRCh37: 15:54305383-54305383
GRCh38: 15:54013186-54013186
9 BICC1 NM_001080512.3(BICC1):c.937A>G (p.Arg313Gly) SNV Uncertain significance 992392 GRCh37: 10:60549583-60549583
GRCh38: 10:58789823-58789823
10 BICC1 NM_001080512.3(BICC1):c.1733A>C (p.Asp578Ala) SNV Uncertain significance 973896 GRCh37: 10:60559961-60559961
GRCh38: 10:58800201-58800201
11 BICC1 NM_001080512.3(BICC1):c.1718A>G (p.His573Arg) SNV Uncertain significance 992901 GRCh37: 10:60559005-60559005
GRCh38: 10:58799245-58799245

UniProtKB/Swiss-Prot genetic disease variations for Renal Dysplasia, Cystic:

72
# Symbol AA change Variation ID SNP ID
1 BICC1 p.Glu932Gly VAR_066760 rs387907124

Expression for Renal Dysplasia, Cystic

Search GEO for disease gene expression data for Renal Dysplasia, Cystic.

Pathways for Renal Dysplasia, Cystic

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.98 PKD1 NPHP3 INPP5E CEP290
2
Show member pathways
10.83 PKD1 NPHP3 INPP5E

GO Terms for Renal Dysplasia, Cystic

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

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.35 TULP3 PKD1 NPHP3 INPP5E CEP290
2 cilium GO:0005929 9.02 TULP3 PKD1 NPHP3 INPP5E CEP290

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

# Name GO ID Score Top Affiliating Genes
1 limb development GO:0060173 9.26 TULP3 SLC7A11
2 neural tube development GO:0021915 9.16 TULP3 PKD1
3 branching morphogenesis of an epithelial tube GO:0048754 8.96 PKD1 CASR
4 kidney development GO:0001822 8.8 PKD1 NPHP3 BICC1

Sources for Renal Dysplasia, Cystic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....