CYSRD
MCID: RNL094
MIFTS: 38

Renal Dysplasia, Cystic (CYSRD)

Categories: Genetic diseases, Nephrological diseases

Aliases & Classifications for Renal Dysplasia, Cystic

MalaCards integrated aliases for Renal Dysplasia, Cystic:

Name: Renal Dysplasia, Cystic 57 75
Renal Dysplasia, Cystic, Susceptibility to 57 13
Multicystic Dysplastic Kidney 44 73
Cystic Renal Dysplasia 29 6
Cysrd 57 75
Dysplasia, Renal, Cystic, Susceptibility to 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



Summaries for Renal Dysplasia, Cystic

UniProtKB/Swiss-Prot : 75 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 kidney disease and autosomal dominant polycystic kidney disease. An important gene associated with Renal Dysplasia, Cystic is BICC1 (BicC Family RNA Binding Protein 1), and among its related pathways/superpathways is Organelle biogenesis and maintenance. Affiliated tissues include kidney, uterus and testis, and related phenotypes are renal insufficiency and vesicoureteral reflux

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:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 kidney disease 30.7 CEP290 PKD1
2 autosomal dominant polycystic kidney disease 29.7 BICC1 PKD1
3 renal dysplasia 29.6 BICC1 CEP290
4 multicystic dysplastic kidney 12.9
5 unilateral multicystic dysplastic kidney 12.6
6 bilateral multicystic dysplastic kidney 12.6
7 congenital anomalies of kidney and urinary tract 2 11.8
8 renal dysplasia diffuse cystic 11.7
9 campomelia, cumming type 11.7
10 say syndrome 11.4
11 renal-hepatic-pancreatic dysplasia 1 11.3
12 ritscher-schinzel syndrome 1 11.3
13 renal-hepatic-pancreatic dysplasia 2 11.3
14 meckel syndrome, type 7 11.1
15 vesicoureteral reflux 1 10.3
16 renal cell carcinoma, nonpapillary 10.3
17 ureterocele 10.2
18 renal hypodysplasia/aplasia 1 10.2
19 fibromuscular dysplasia 10.0
20 hirschsprung disease 1 10.0
21 down syndrome 10.0
22 waardenburg syndrome, type 1 10.0
23 endocardial fibroelastosis 10.0
24 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.0
25 gastroschisis 10.0
26 pyruvate kinase deficiency of red cells 10.0
27 caudal duplication anomaly 10.0
28 valproate embryopathy 10.0
29 wilms tumor 6 10.0
30 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.0
31 bartter disease 10.0
32 chronic kidney failure 10.0
33 hemangioma 10.0
34 polycystic kidney disease 10.0
35 hydronephrosis 10.0
36 pyelonephritis 10.0
37 oligohydramnios 10.0
38 kidney cancer 10.0
39 dermoid cyst 10.0
40 transitional cell carcinoma 10.0
41 turner syndrome 10.0
42 lymphocele 10.0
43 collecting duct carcinoma 10.0
44 cavernous hemangioma 10.0
45 cowden disease 10.0
46 waardenburg's syndrome 10.0
47 cleft lip 10.0
48 hydrocele 10.0
49 aortic coarctation 10.0
50 dandy-walker complex 10.0

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:

57
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

Human phenotypes related to Renal Dysplasia, Cystic:

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

MGI Mouse Phenotypes related to Renal Dysplasia, Cystic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 BICC1 CEP290 PKD1
2 liver/biliary system MP:0005370 9.33 BICC1 CEP290 PKD1
3 renal/urinary system MP:0005367 9.13 BICC1 CEP290 PKD1
4 reproductive system MP:0005389 8.8 BICC1 CEP290 PKD1

Drugs & Therapeutics for Renal Dysplasia, Cystic

Search Clinical Trials , 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 Cystic Renal Dysplasia 29

Anatomical Context for Renal Dysplasia, Cystic

MalaCards organs/tissues related to Renal Dysplasia, Cystic:

41
Kidney, Uterus, Testis

Publications for Renal Dysplasia, Cystic

Articles related to Renal Dysplasia, Cystic:

(show top 50) (show all 205)
# Title Authors Year
1
Predictors of poor neonatal outcomes in prenatally diagnosed multicystic dysplastic kidney disease. ( 29572458 )
2018
2
Applicability of Laparoscopic Nephrectomy in the Treatment of Multicystic Dysplastic Kidney: Sorting Out Surgical Indication. ( 29515943 )
2018
3
Pelvic dystopia of right rudimentary multicystic dysplastic kidney as a rare cause of bedwetting in a patient with aA single pelvic ectopic left kidney, and agenesis of theA uterus and vagina (Mayer-Rokitansky-KA1ster-Hauser syndrome): a case report. ( 29730988 )
2018
4
Clinical Features of Children with Multicystic Dysplastic Kidney. ( 29856512 )
2018
5
A refractory hypertensive patient with fibromuscular dysplasia and multicystic dysplastic kidney. ( 29796733 )
2018
6
Trajectory of Estimated Glomerular Filtration Rate Predicts Renal Injury in Children with Multicystic Dysplastic Kidney. ( 29879710 )
2018
7
Necessity of performing voiding cystourethrography for children with unilateral multicystic dysplastic kidney. ( 30255447 )
2018
8
Magnetic resonance imaging for evaluation of foetal multicystic dysplastic kidney. ( 30396644 )
2018
9
Evidence-based treatment of multicystic dysplastic kidney: a systematic review. ( 30396841 )
2018
10
A meta-analysis of the incidence and fate of contralateral vesicoureteral reflux in unilateral multicystic dysplastic kidney. ( 30482499 )
2018
11
Multicystic dysplastic kidney: Assessment of the need for renal scintigraphy and the safety of conservative treatment. ( 27666954 )
2017
12
Early Nephrectomy in Unilateral Multicystic Dysplastic Kidney in Children Cures Hypertension Early: An Observation. ( 28346956 )
2017
13
Cyst-to-kidney volume ratio in the sonographic diagnosis of unilateral multicystic dysplastic kidney in children. ( 28440349 )
2017
14
Multicystic dysplastic kidney: a new association of Wolcott-Rallison syndrome. ( 28955442 )
2017
15
Large Multicystic Dysplastic Kidney Mimicking a Large Cystic Renal Neoplasm. ( 28658845 )
2017
16
Copy number variations in multicystic dysplastic kidney: update for prenatal diagnosis and genetic counseling. ( 26941192 )
2016
17
Minimally invasive open nephrectomy on children with multicystic dysplastic kidney. ( 28101154 )
2016
18
Multicystic dysplastic kidney (MCDK) in the neonate: The role of the urologist. ( 26977201 )
2016
19
Prenatal diagnosis of fetal multicystic dysplastic kidney via high-resolution whole-genome array. ( 26932690 )
2016
20
Re: Multicystic Dysplastic Kidney: Is an Initial Voiding Cystourethrogram Necessary? ( 26853032 )
2016
21
Prenatal diagnosis of bilateral multicystic dysplastic kidney in three siblings. ( 26966031 )
2016
22
Dermoid Cyst in a Multicystic Dysplastic Kidney: A Case Report and Literature Review. ( 26342317 )
2015
23
Conservative Management of Segmental Multicystic Dysplastic Kidney in Children. ( 26277536 )
2015
24
Update on Multicystic Dysplastic Kidney. ( 26255066 )
2015
25
Uterus didelphys with obstructed hemivagina and contralateral multicystic dysplastic kidney. ( 28509270 )
2015
26
Testicular cavernous hemangioma presenting as an ipsilateral lesion in a child with multicystic dysplastic kidney. ( 27735807 )
2015
27
Caudal duplication with multicystic dysplastic kidney: a case report. ( 25304120 )
2015
28
Dyserythropoiesis in a child with pyruvate kinase deficiency and coexistent unilateral multicystic dysplastic kidney. ( 24481986 )
2014
29
Multicystic dysplastic kidney: Impact of imaging modality selection on the initial management and prognosis. ( 24731390 )
2014
30
Single center experience in patients with unilateral multicystic dysplastic kidney. ( 24873872 )
2014
31
Voiding cystourethrogram in multicystic dysplastic kidney: the pendulum has swung. ( 25347380 )
2014
32
The natural history of the multicystic dysplastic kidney - Is limited follow-up warranted? ( 25087179 )
2014
33
Multicystic dysplastic kidney: is an initial voiding cystourethrogram necessary? ( 25347379 )
2014
34
Normal non-atretic ureter in multicystic dysplastic kidney: Report of two cases. ( 24604989 )
2014
35
Multicystic dysplastic kidney: a retrospective study. ( 25128997 )
2014
36
Transcriptional dysregulation in the ureteric bud causes multicystic dysplastic kidney by branching morphogenesis defect. ( 25301096 )
2014
37
Ultrasound diagnosis of multicystic dysplastic kidney: Is a confirmatory nuclear medicine scan necessary? ( 24909606 )
2014
38
Unilateral multicystic dysplastic kidney in children. ( 24827951 )
2014
39
Prenatal diagnosis of multicystic dysplastic kidney disease in the second trimester screening. ( 23584791 )
2013
40
Re: Unilateral multicystic dysplastic kidney: does initial size matter? ( 24120811 )
2013
41
Multicystic dysplastic kidney complicated by pyelonephritis. ( 24349603 )
2013
42
Ultrasound diagnosis of central nervous system anomalies (bifid choroid plexus, ventriculomegaly, Dandy-Walker malformation) associated with multicystic dysplastic kidney disease in a trisomy 9 fetus: case report with literature review. ( 23055272 )
2013
43
Segmental multicystic dysplastic kidney in an adult: usefulness of enhanced CT in excretory phase. ( 22782317 )
2013
44
Re: Unilateral multicystic dysplastic kidney: does initial size matter? ( 23663641 )
2013
45
Autosomal dominant polycystic kidney disease with ectopic unilateral multicystic dysplastic kidney. ( 23413949 )
2013
46
Involution of multicystic dysplastic kidney: is it predictable? ( 22687342 )
2013
47
Antenatal three-dimensional sonographic features of multicystic dysplastic kidney. ( 27277112 )
2013
48
Cowden disease and multicystic dysplastic kidney: increased risk of renal cancer? ( 26019827 )
2012
49
Unilateral multicystic dysplastic kidney: does initial size matter? ( 22410799 )
2012
50
Single trocar retroperitoneoscopic nephrectomy for unilateral multicystic dysplastic kidney in children. ( 22290528 )
2012

Variations for Renal Dysplasia, Cystic

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

75
# Symbol AA change Variation ID SNP ID
1 BICC1 p.Glu932Gly VAR_066760 rs387907124

ClinVar genetic disease variations for Renal Dysplasia, Cystic:

6
# 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.259C> T (p.Gln87Ter) single nucleotide variant risk factor rs387907123 GRCh38 Chromosome 10, 58702095: 58702095
3 BICC1 NM_001080512.2(BICC1): c.2795A> G (p.Glu932Gly) single nucleotide variant risk factor rs387907124 GRCh37 Chromosome 10, 60588521: 60588521
4 BICC1 NM_001080512.2(BICC1): c.2795A> G (p.Glu932Gly) single nucleotide variant risk factor rs387907124 GRCh38 Chromosome 10, 58828761: 58828761
5 CEP290 NM_025114.3(CEP290): c.4882C> T (p.Gln1628Ter) single nucleotide variant Pathogenic rs376493409 GRCh38 Chromosome 12, 88083161: 88083161
6 CEP290 NM_025114.3(CEP290): c.4882C> T (p.Gln1628Ter) single nucleotide variant Pathogenic rs376493409 GRCh37 Chromosome 12, 88476938: 88476938
7 CEP290 NM_025114.3(CEP290): c.5710-3C> G single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 88465706: 88465706
8 CEP290 NM_025114.3(CEP290): c.5710-3C> G single nucleotide variant Likely pathogenic GRCh38 Chromosome 12, 88071929: 88071929
9 PKD1 NM_001009944.2(PKD1): c.5899_5901delGTG (p.Val1967del) deletion Pathogenic GRCh38 Chromosome 16, 2109266: 2109268
10 PKD1 NM_001009944.2(PKD1): c.5899_5901delGTG (p.Val1967del) deletion Pathogenic GRCh37 Chromosome 16, 2159267: 2159269

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
11.35 CEP290 PKD1

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 cilium GO:0005929 8.62 CEP290 PKD1

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

# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 8.62 BICC1 PKD1

Sources for Renal Dysplasia, Cystic

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
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