MCID: RNL094
MIFTS: 25

Renal Dysplasia, Cystic

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Renal Dysplasia, Cystic

MalaCards integrated aliases for Renal Dysplasia, Cystic:

Name: Renal Dysplasia, Cystic 54 71
Renal Dysplasia, Cystic, Susceptibility to 24 13
Multicystic Dysplastic Kidney 42 69
Cysrd 24 71
Cystic Renal Dysplasia 29

Characteristics:

OMIM:

54
Miscellaneous:
onset in utero
two unrelated patients with confirmed mutations have been reported (as of january 2012)

Inheritance:
autosomal dominant


HPO:

32
renal dysplasia, cystic:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Renal Dysplasia, Cystic

UniProtKB/Swiss-Prot : 71 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 multicystic dysplastic kidney and unilateral multicystic dysplastic kidney, and has symptoms including pulmonary hypoplasia, renal insufficiency and vesicoureteral reflux. An important gene associated with Renal Dysplasia, Cystic is BICC1 (BicC Family RNA Binding Protein 1). The drugs Ropivacaine and Ibuprofen have been mentioned in the context of this disorder. Affiliated tissues include kidney.

Description 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:

id Related Disease Score Top Affiliating Genes
1 multicystic dysplastic kidney 12.6
2 unilateral multicystic dysplastic kidney 12.3
3 bilateral multicystic dysplastic kidney 12.3
4 say syndrome 11.2
5 congenital anomalies of kidney and urinary tract 2 11.2
6 renal dysplasia diffuse cystic 11.1
7 renal dysplasia 9.8

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



Diseases related to Renal Dysplasia, Cystic

Symptoms & Phenotypes for Renal Dysplasia, Cystic

Symptoms via clinical synopsis from OMIM:

54

Genitourinary- Kidneys:
decreased renal function
hyperechogenic kidneys
renal cysts
renal dysplasia

Cardiovascular- Vascular:
arterial hypertension (in 1 patient)

Genitourinary- Bladder:
vesicoureteral reflux (in 1 patient)


Clinical features from OMIM:

601331

Human phenotypes related to Renal Dysplasia, Cystic:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 pulmonary hypoplasia 32 HP:0002089
2 renal insufficiency 32 HP:0000083
3 vesicoureteral reflux 32 occasional (7.5%) HP:0000076
4 renal dysplasia 32 HP:0000110
5 hyperechogenic kidneys 32 HP:0004719
6 cystic renal dysplasia 32 HP:0000800

Drugs & Therapeutics for Renal Dysplasia, Cystic

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

(show all 14)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ropivacaine Approved 84057-95-4 71273 175805
2
Ibuprofen Approved 15687-27-1 3672
3 Anesthetics
4 Anesthetics, Local
5 Central Nervous System Depressants
6 Peripheral Nervous System Agents
7 Analgesics
8 Analgesics, Non-Narcotic
9 Anti-Inflammatory Agents
10 Anti-Inflammatory Agents, Non-Steroidal
11 Antirheumatic Agents
12 Cyclooxygenase Inhibitors
13 diuretics
14 Natriuretic Agents

Interventional clinical trials:


id 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
3 Dismembered Pyeloplasty With and Without After Coming Stent Completed NCT02138877
4 The Efficacy and Safety of Local Anesthetic Infusion With Ropivacaine Completed NCT00930046
5 Indwelling Double-J Ureteral Stent Versus Externalized Modified-Salle Stent for Pyeloplasty Recruiting NCT02713633
6 Randomized Trial of NSAID vs Placebo Prior to Ureteral Stent Removal Recruiting NCT02140970 Ibuprofen;Placebo
7 Diagnostic Relevance of Laser Confocal Microscopy for the Screening of Upper Urinary Tract Tumors Active, not recruiting NCT02276924
8 Ambulatory Blood Pressure Measurement in Children With Congenital Urine Flow Obstruction Available NCT00764543
9 CTT on Renogram as an Early Marker of Significant Obstruction in Uretero-pelvic Junction Syndrome Not yet recruiting NCT02812212

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:

id Genetic test Affiliating Genes
1 Cystic Renal Dysplasia 29
2 Renal Dysplasia, Cystic, Susceptibility to 24 BICC1

Anatomical Context for Renal Dysplasia, Cystic

MalaCards organs/tissues related to Renal Dysplasia, Cystic:

39
Kidney

Publications for Renal Dysplasia, Cystic

Variations for Renal Dysplasia, Cystic

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

71
id Symbol AA change Variation ID SNP ID
1 BICC1 p.Glu932Gly VAR_066760 rs387907124

ClinVar genetic disease variations for Renal Dysplasia, Cystic:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 BICC1 NM_001080512.2(BICC1): c.259C> T (p.Gln87Ter) single nucleotide variant risk factor rs387907123 GRCh37 Chromosome 10, 60461855: 60461855
2 BICC1 NM_001080512.2(BICC1): c.2795A> G (p.Glu932Gly) single nucleotide variant risk factor rs387907124 GRCh37 Chromosome 10, 60588521: 60588521

Expression for Renal Dysplasia, Cystic

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

Pathways for Renal Dysplasia, Cystic

GO Terms for Renal Dysplasia, Cystic

Sources for Renal Dysplasia, Cystic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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