MCID: RNL094
MIFTS: 35

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


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 : 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 renal dysplasia and multicystic dysplastic kidney. 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 and uterus, and related phenotypes are vesicoureteral reflux and renal insufficiency

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 all 12)
# Related Disease Score Top Affiliating Genes
1 renal dysplasia 29.1 BICC1 CEP290
2 multicystic dysplastic kidney 12.7
3 unilateral multicystic dysplastic kidney 12.5
4 bilateral multicystic dysplastic kidney 12.5
5 campomelia, cumming type 11.6
6 renal dysplasia diffuse cystic 11.6
7 say syndrome 11.3
8 congenital anomalies of kidney and urinary tract 2 11.3
9 nephronophthisis 9.3 CEP290 PKD1
10 autosomal dominant polycystic kidney disease 9.3 BICC1 PKD1
11 kidney disease 9.2 CEP290 PKD1
12 bardet-biedl syndrome 9.0 CEP290 PKD1

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
Cardiovascular Vascular:
arterial hypertension (in 1 patient)

Genitourinary Bladder:
vesicoureteral reflux (in 1 patient)

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


Clinical features from OMIM:

601331

Human phenotypes related to Renal Dysplasia, Cystic:

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

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

Publications for Renal Dysplasia, Cystic

Articles related to Renal Dysplasia, Cystic:

(show top 50) (show all 83)
# 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
Multicystic dysplastic kidney: Assessment of the need for renal scintigraphy and the safety of conservative treatment. ( 27666954 )
2017
8
Early Nephrectomy in Unilateral Multicystic Dysplastic Kidney in Children Cures Hypertension Early: An Observation. ( 28346956 )
2017
9
Cyst-to-kidney volume ratio in the sonographic diagnosis of unilateral multicystic dysplastic kidney in children. ( 28440349 )
2017
10
Multicystic dysplastic kidney: a new association of Wolcott-Rallison syndrome. ( 28955442 )
2017
11
Large Multicystic Dysplastic Kidney Mimicking a Large Cystic Renal Neoplasm. ( 28658845 )
2017
12
Copy number variations in multicystic dysplastic kidney: update for prenatal diagnosis and genetic counseling. ( 26941192 )
2016
13
Minimally invasive open nephrectomy on children with multicystic dysplastic kidney. ( 28101154 )
2016
14
Multicystic dysplastic kidney (MCDK) in the neonate: The role of the urologist. ( 26977201 )
2016
15
Prenatal diagnosis of fetal multicystic dysplastic kidney via high-resolution whole-genome array. ( 26932690 )
2016
16
Re: Multicystic Dysplastic Kidney: Is an Initial Voiding Cystourethrogram Necessary? ( 26853032 )
2016
17
Prenatal diagnosis of bilateral multicystic dysplastic kidney in three siblings. ( 26966031 )
2016
18
Dermoid Cyst in a Multicystic Dysplastic Kidney: A Case Report and Literature Review. ( 26342317 )
2015
19
Conservative Management of Segmental Multicystic Dysplastic Kidney in Children. ( 26277536 )
2015
20
Update on Multicystic Dysplastic Kidney. ( 26255066 )
2015
21
Uterus didelphys with obstructed hemivagina and contralateral multicystic dysplastic kidney. ( 28509270 )
2015
22
Testicular cavernous hemangioma presenting as an ipsilateral lesion in a child with multicystic dysplastic kidney. ( 27735807 )
2015
23
Dyserythropoiesis in a child with pyruvate kinase deficiency and coexistent unilateral multicystic dysplastic kidney. ( 24481986 )
2014
24
Multicystic dysplastic kidney: Impact of imaging modality selection on the initial management and prognosis. ( 24731390 )
2014
25
Single center experience in patients with unilateral multicystic dysplastic kidney. ( 24873872 )
2014
26
Voiding cystourethrogram in multicystic dysplastic kidney: the pendulum has swung. ( 25347380 )
2014
27
The natural history of the multicystic dysplastic kidney - Is limited follow-up warranted? ( 25087179 )
2014
28
Multicystic dysplastic kidney: is an initial voiding cystourethrogram necessary? ( 25347379 )
2014
29
Normal non-atretic ureter in multicystic dysplastic kidney: Report of two cases. ( 24604989 )
2014
30
Multicystic dysplastic kidney: a retrospective study. ( 25128997 )
2014
31
Transcriptional dysregulation in the ureteric bud causes multicystic dysplastic kidney by branching morphogenesis defect. ( 25301096 )
2014
32
Ultrasound diagnosis of multicystic dysplastic kidney: Is a confirmatory nuclear medicine scan necessary? ( 24909606 )
2014
33
Unilateral multicystic dysplastic kidney in children. ( 24827951 )
2014
34
Caudal duplication with multicystic dysplastic kidney: a case report. ( 25304120 )
2014
35
Prenatal diagnosis of multicystic dysplastic kidney disease in the second trimester screening. ( 23584791 )
2013
36
Re: Unilateral multicystic dysplastic kidney: does initial size matter? ( 24120811 )
2013
37
Multicystic dysplastic kidney complicated by pyelonephritis. ( 24349603 )
2013
38
Different phenotypes of HNF1A9 deletion mutants in familial multicystic dysplastic kidneys. ( 23725647 )
2013
39
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
40
Segmental multicystic dysplastic kidney in an adult: usefulness of enhanced CT in excretory phase. ( 22782317 )
2013
41
Re: Unilateral multicystic dysplastic kidney: does initial size matter? ( 23663641 )
2013
42
Autosomal dominant polycystic kidney disease with ectopic unilateral multicystic dysplastic kidney. ( 23413949 )
2013
43
Cowden disease and multicystic dysplastic kidney: increased risk of renal cancer? ( 26019827 )
2012
44
Unilateral multicystic dysplastic kidney: does initial size matter? ( 22410799 )
2012
45
Single trocar retroperitoneoscopic nephrectomy for unilateral multicystic dysplastic kidney in children. ( 22290528 )
2012
46
Prenatal diagnosis of fetal multicystic dysplastic kidney in the era of three-dimensional ultrasound: 10-year experience. ( 23276564 )
2012
47
Severe fetal valproate syndrome: combination of complex cardiac defect, multicystic dysplastic kidney, and trigonocephaly. ( 21291342 )
2011
48
Long-term risk of chronic kidney disease in unilateral multicystic dysplastic kidney. ( 21240528 )
2011
49
Bilateral congenital midureteric strictures associated with multicystic dysplastic kidney and hydronephrosis: evaluation with MR urography. ( 20714713 )
2011
50
Unilateral multicystic dysplastic kidney with progressive infundibular stenosis in the contralateral kidney: experience at 1 center and review of literature. ( 21784480 )
2011

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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