MCID: RNL094
MIFTS: 29

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 53 71
Renal Dysplasia, Cystic, Susceptibility to 53 13
Multicystic Dysplastic Kidney 41 69
Cysrd 53 71
Cystic Renal Dysplasia 28

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
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 renal insufficiency, vesicoureteral reflux and pulmonary hypoplasia. An important gene associated with Renal Dysplasia, Cystic is BICC1 (BicC Family RNA Binding Protein 1). 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:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 multicystic dysplastic kidney 12.5
2 unilateral multicystic dysplastic kidney 12.5
3 bilateral multicystic dysplastic kidney 12.5
4 campomelia, cumming type 11.6
5 renal dysplasia diffuse cystic 11.5
6 congenital anomalies of kidney and urinary tract 2 11.3
7 say syndrome 11.3
8 renal-hepatic-pancreatic dysplasia 1 11.2
9 ritscher-schinzel syndrome 1 11.2
10 renal-hepatic-pancreatic dysplasia 2 11.2
11 kidney disease 10.3
12 ureterocele 10.1
13 polykaryocytosis inducer 9.9
14 chromosome 2q35 duplication syndrome 9.9
15 down syndrome 9.9
16 renal hypodysplasia/aplasia 1 9.9
17 endocardial fibroelastosis 9.9
18 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 9.9
19 gastroschisis 9.9
20 hydrocephalus, nonsyndromic, autosomal recessive 1 9.9
21 pyruvate kinase deficiency of red cells 9.9
22 valproate embryopathy 9.9
23 hydrocephalus, nonsyndromic, autosomal recessive 2 9.9
24 chronic kidney failure 9.9
25 hemangioma 9.9
26 hydronephrosis 9.9
27 pyelonephritis 9.9
28 choroiditis 9.9
29 oligohydramnios 9.9
30 congenital ichthyosiform erythroderma 9.9
31 vaginitis 9.9
32 cervicitis 9.9
33 dermoid cyst 9.9
34 turner syndrome 9.9
35 lymphocele 9.9
36 collecting duct carcinoma 9.9
37 cavernous hemangioma 9.9
38 cowden disease 9.9
39 autosomal dominant polycystic kidney disease 9.9
40 cleft lip 9.9
41 hydrocele 9.9
42 polycystic kidney disease 9.9
43 aortic coarctation 9.9
44 schinzel giedion syndrome 9.9
45 vaginal atresia 9.9
46 fibrosis of extraocular muscles, congenital, 1 9.7
47 renal dysplasia 9.7

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:

53
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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 renal insufficiency 31 HP:0000083
2 vesicoureteral reflux 31 occasional (7.5%) HP:0000076
3 pulmonary hypoplasia 31 HP:0002089
4 renal dysplasia 31 HP:0000110
5 cystic renal dysplasia 31 HP:0000800
6 hyperechogenic kidneys 31 HP:0004719

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 28

Anatomical Context for Renal Dysplasia, Cystic

MalaCards organs/tissues related to Renal Dysplasia, Cystic:

38
Kidney

Publications for Renal Dysplasia, Cystic

Articles related to Renal Dysplasia, Cystic:

(show top 50) (show all 76)
# Title Authors Year
1
Early Nephrectomy in Unilateral Multicystic Dysplastic Kidney in Children Cures Hypertension Early: An Observation. ( 28346956 )
2017
2
Multicystic dysplastic kidney: Assessment of the need for renal scintigraphy and the safety of conservative treatment. ( 27666954 )
2017
3
Cyst-to-kidney volume ratio in the sonographic diagnosis of unilateral multicystic dysplastic kidney in children. ( 28440349 )
2017
4
Large Multicystic Dysplastic Kidney Mimicking a Large Cystic Renal Neoplasm. ( 28658845 )
2017
5
Multicystic dysplastic kidney: a new association of Wolcott-Rallison syndrome. ( 28955442 )
2017
6
Minimally invasive open nephrectomy on children with multicystic dysplastic kidney. ( 28101154 )
2016
7
Prenatal diagnosis of bilateral multicystic dysplastic kidney in three siblings. ( 26966031 )
2016
8
Prenatal diagnosis of fetal multicystic dysplastic kidney via high-resolution whole-genome array. ( 26932690 )
2016
9
Copy number variations in multicystic dysplastic kidney: update for prenatal diagnosis and genetic counseling. ( 26941192 )
2016
10
Re: Multicystic Dysplastic Kidney: Is an Initial Voiding Cystourethrogram Necessary? ( 26853032 )
2016
11
Multicystic dysplastic kidney (MCDK) in the neonate: The role of the urologist. ( 26977201 )
2016
12
Uterus didelphys with obstructed hemivagina and contralateral multicystic dysplastic kidney. ( 28509270 )
2015
13
Testicular cavernous hemangioma presenting as an ipsilateral lesion in a child with multicystic dysplastic kidney. ( 27735807 )
2015
14
Update on Multicystic Dysplastic Kidney. ( 26255066 )
2015
15
Dermoid Cyst in a Multicystic Dysplastic Kidney: A Case Report and Literature Review. ( 26342317 )
2015
16
Conservative Management of Segmental Multicystic Dysplastic Kidney in Children. ( 26277536 )
2015
17
The natural history of the multicystic dysplastic kidney - Is limited follow-up warranted? ( 25087179 )
2014
18
Voiding cystourethrogram in multicystic dysplastic kidney: the pendulum has swung. ( 25347380 )
2014
19
Single center experience in patients with unilateral multicystic dysplastic kidney. ( 24873872 )
2014
20
Dyserythropoiesis in a child with pyruvate kinase deficiency and coexistent unilateral multicystic dysplastic kidney. ( 24481986 )
2014
21
Multicystic dysplastic kidney: Impact of imaging modality selection on the initial management and prognosis. ( 24731390 )
2014
22
Ultrasound diagnosis of multicystic dysplastic kidney: Is a confirmatory nuclear medicine scan necessary? ( 24909606 )
2014
23
Unilateral multicystic dysplastic kidney in children. ( 24827951 )
2014
24
Normal non-atretic ureter in multicystic dysplastic kidney: Report of two cases. ( 24604989 )
2014
25
Caudal duplication with multicystic dysplastic kidney: a case report. ( 25304120 )
2014
26
Transcriptional dysregulation in the ureteric bud causes multicystic dysplastic kidney by branching morphogenesis defect. ( 25301096 )
2014
27
Multicystic dysplastic kidney: is an initial voiding cystourethrogram necessary? ( 25347379 )
2014
28
Multicystic dysplastic kidney: a retrospective study. ( 25128997 )
2014
29
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
30
Multicystic dysplastic kidney complicated by pyelonephritis. ( 24349603 )
2013
31
Prenatal diagnosis of multicystic dysplastic kidney disease in the second trimester screening. ( 23584791 )
2013
32
Different phenotypes of HNF1A9 deletion mutants in familial multicystic dysplastic kidneys. ( 23725647 )
2013
33
Re: Unilateral multicystic dysplastic kidney: does initial size matter? ( 23663641 )
2013
34
Segmental multicystic dysplastic kidney in an adult: usefulness of enhanced CT in excretory phase. ( 22782317 )
2013
35
Re: Unilateral multicystic dysplastic kidney: does initial size matter? ( 24120811 )
2013
36
Autosomal dominant polycystic kidney disease with ectopic unilateral multicystic dysplastic kidney. ( 23413949 )
2013
37
Cowden disease and multicystic dysplastic kidney: increased risk of renal cancer? ( 26019827 )
2012
38
Prenatal diagnosis of fetal multicystic dysplastic kidney in the era of three-dimensional ultrasound: 10-year experience. ( 23276564 )
2012
39
Single trocar retroperitoneoscopic nephrectomy for unilateral multicystic dysplastic kidney in children. ( 22290528 )
2012
40
Unilateral multicystic dysplastic kidney: does initial size matter? ( 22410799 )
2012
41
Uterus didelphys with unilateral vaginal atresia: multicystic dysplastic kidney is the precursor of "renal agenesis" and the key to early diagnosis of this genital anomaly. ( 21717167 )
2011
42
Bilateral congenital midureteric strictures associated with multicystic dysplastic kidney and hydronephrosis: evaluation with MR urography. ( 20714713 )
2011
43
Long-term risk of chronic kidney disease in unilateral multicystic dysplastic kidney. ( 21240528 )
2011
44
Severe fetal valproate syndrome: combination of complex cardiac defect, multicystic dysplastic kidney, and trigonocephaly. ( 21291342 )
2011
45
Unilateral multicystic dysplastic kidney with progressive infundibular stenosis in the contralateral kidney: experience at 1 center and review of literature. ( 21784480 )
2011
46
A Turner syndrome case associated with anal atresia, interrupted aortic arch and multicystic dysplastic kidney. ( 20560264 )
2010
47
Nephrectomy for multicystic dysplastic kidney and renal hypodysplasia in children: where do we stand? ( 20339852 )
2010
48
Cross ectopic multicystic dysplastic kidney with ureterocele in nonectopic site. ( 23293688 )
2010
49
Unilateral multicystic dysplastic kidney: single-center experience. ( 18696120 )
2009
50
Unilateral multicystic dysplastic kidney: a meta-analysis of observational studies on the incidence, associated urinary tract malformations and the contralateral kidney. ( 19171687 )
2009

Variations for Renal Dysplasia, Cystic

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

71
# 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.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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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