MCID: RNL078
MIFTS: 47

Renal Dysplasia malady

Nephrological, Fetal categories

Summaries for Renal Dysplasia

Sources:
64Wikipedia, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:64 Multicystic dysplastic kidney (MCDK) is a condition that results from the malformation of the kidney... more...

MalaCards: Renal Dysplasia is related to renal agenesis and wilms tumor. An important gene associated with Renal Dysplasia is GATA3 (GATA binding protein 3), and among its related pathways is Pathways in cancer. The compounds wortmannin and tgf beta1 have been mentioned in the context of this disorder. Affiliated tissues include kidney, lung and uterus, and related mouse phenotypes are limbs/digits/tail and endocrine/exocrine gland.

Aliases & Classifications for Renal Dysplasia

Sources:
49Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Nephrological


Aliases & Descriptions:

renal dysplasia 49


External Ids:

ICD10 via Orphanet26 Q61.4

Related Diseases for Renal Dysplasia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Renal Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 206)
idRelated DiseaseScoreTop Affiliating Genes
1renal agenesis30.6LHX1, SALL1, GDNF, RET
2wilms tumor30.3KRBOX4, GDNF, PDGFA
3adenoma30.0MMP7, RET, GDNF
4vesicoureteral reflux29.8UMOD
5urinary tract obstruction29.8GDNF, UMOD
6adenocarcinoma29.8MMP7, USF2, BMP2, PDGFA, HNF1B
7bilateral renal dysplasia10.6
8renal dysplasia, cystic10.5
9hypoparathyroidism10.5
10unilateral renal dysplasia10.5
11multicystic renal dysplasia, bilateral10.4
12torticollis keloids cryptorchidism renal dysplasia10.4
13renal dysplasia-limb defects syndrome10.4
14n syndrome10.4
15renal hypoplasia10.3
16situs inversus10.3
17renal dysplasia diffuse cystic10.3
18renal wilms' tumor10.2
19renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia10.2
20familial deafness10.2
21unilateral multicystic renal dysplasia10.2
22polydactyly10.2
23gigantism10.2
24posterior urethral valves10.2
25posterior valve urethra10.2
26posterior urethral valve10.2
27hydronephrosis10.1
28senior-loken syndrome10.1
29ureterocele10.1
30char syndrome10.1
31barakat syndrome10.1
32horseshoe kidney10.1
33renal dysplasia megalocystis sirenomelia10.1
34selig benacerraf greene syndrome10.1
35familial wilms tumor10.1
36senior-loken syndrome 110.1
37teratoma10.1
38unilateral renal agenesis10.1
39vacterl association10.0
40smith-lemli-opitz syndrome10.0
41ureteral obstruction10.0
42cryptorchidism10.0
43urethral syndrome10.0
44digeorge syndrome10.0
45esophageal atresia10.0
46imperforate anus10.0
47hypercalcemia10.0
48congenital hepatic fibrosis10.0
49prune belly syndrome10.0
50jejunal atresia10.0

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



Diseases related to renal dysplasia

Clinical Features for Renal Dysplasia

Drugs & Therapeutics for Renal Dysplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Renal Dysplasia

Drug clinical trials:

Search ClinicalTrials for Renal Dysplasia

Search NIH Clinical Center for Renal Dysplasia

Search CenterWatch for Renal Dysplasia

Genetic Tests for Renal Dysplasia

Anatomical Context for Renal Dysplasia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Renal Dysplasia:

33
Kidney, Lung, Uterus, Heart, Pancreas, Placenta, Testis, T cells, Fetal lung, Pituitary

Animal Models for Renal Dysplasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Renal Dysplasia

Sources:
51PubMed
See all sources

Articles related to Renal Dysplasia:

(show top 50)    (show all 538)
idTitleAuthorsYear
1
Fibromuscular dysplasia of the renal artery: an underdiagnosed cause of severe hypertension. (23684605)
2013
2
Treatment for renovascular hypertension due to fibromuscular dysplasia of renal arteries with renal autotransplantation. (23511770)
2013
3
A normotensive patient with fibromuscular dysplasia presenting as unilateral renal infarction. (23841252)
2013
4
Renal artery fibromuscular dysplasia: in vivo optical coherence tomography insights. (23990603)
2013
5
Parathyroid hormone-independent hypercalcemia in an infant with renal dysplasia: possible role of PTHrP. (23327815)
2013
6
Matrilysin (MMP-7) inhibition of BMP-7 induced renal tubular branching morphogenesis suggests a role in the pathogenesis of human renal dysplasia. (22215634)
2012
7
Fibromuscular dysplasia of the renal artery in a kidney donor may cause long-term complications. (23216568)
2012
8
Short- and long-term outcomes of percutaneous transluminal angioplasty/stenting of renal fibromuscular dysplasia over a ten-year period. (22112553)
2012
9
A unique case of renal artery fibromuscular dysplasia. (21547993)
2011
10
Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutation. (21051477)
2011
11
Fibromuscular dysplasia presenting as a renal infarction: a case report. (20591148)
2010
12
Editorial comment to Retrovesical cystic lesions in female patients with unilateral renal agenesis or dysplasia. (20482666)
2010
13
Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. (20007846)
2010
14
Renal cystic dysplasia, paucity of bile ducts, situs inversus, bowing of the femora in two siblings in the Reunion Island: a ciliopathy? (19550299)
2009
15
CTA and 2D-3D post-processing: radiological signs of fibromuscular dysplasia of renal artery. (18648722)
2009
16
Angioplasty for renal artery fibromuscular dysplasia in older hypertensive patients. (19625271)
2009
17
Fibromuscular dysplasia of the renal arteries: a radiological review. (17031504)
2007
18
Renal-hepatic-pancreatic dysplasia syndrome (Ivemark's syndrome). (17605805)
2007
19
FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association? (17375526)
2006
20
Fibromuscular dysplasia of renal arteries: percutaneous revascularization based on hemodynamic assessment with a pressure measurement guidewire. (16475187)
2006
21
Renal dysplasia with unilateral renal agenesis in a dog. (15899491)
2005
22
Agenesis of the bladder with solitary renal dysplasia: management of a challenging condition. (15182414)
2004
23
Cystic dysplasia of the testis associated with ipsilateral renal agenesis and contralateral crossed ectopia. (12137846)
2002
24
Treatment of renal artery fibromuscular dysplasia with balloon angioplasty: a prospective follow-up study. (11863332)
2002
25
Lack of aberrations of the BMP4, BMP2, and PTX1 genes in a patient with pituitary hypoplasia, os odontoideum, renal dysplasia, and right leg anomalies. (12165803)
2002
26
Antenatal diagnosis of Multicystic Renal Dysplasia. (11558015)
2001
27
Polymorphisms of the renin-angiotensin system in patients with multifocal renal arterial fibromuscular dysplasia. (11317203)
2001
28
An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. (10633131)
2000
29
Renal dysplasia: the risks and consequences of leaving dysplastic tissue in situ. (9763067)
1998
30
Renal dysplasia: an autopsy study of associated congenital malformations. (10771978)
1998
31
Rupture of a hepatic artery aneurysm and renal infarction: 2 complications of fibromuscular dysplasia that mimic vasculitis. (9779860)
1998
32
Renal artery aneurysm and fibromuscular dysplasia. (9175076)
1997
33
A control of a golden retriever with renal dysplasia. (9362046)
1997
34
Single ectopic ureterocele associated with ipsilateral renal dysplasia and undescended testis. (9458519)
1997
35
Partial renal embolization for pediatric renovascular hypertension secondary to fibromuscular dysplasia. (9271651)
1997
36
Renal dysplasia, situs inversus totalis, and multisystem fibrosis: a new syndrome. (1570238)
1992
37
Harlequin fetus with polydactyly and renal dysplasia. (2279815)
1990
38
Renal dysplasia with multisystem malformation--a study of 9 cases. (2807474)
1989
39
Renal dysplasia in a pig. (3168470)
1988
40
Renal dysplasia--a clinicopathological review. (3293687)
1988
41
Bilateral renal dysplasia and hypoplasia in a foal with an imperforate anus. (3354168)
1988
42
Renal dysplasia in a standardbred colt. (3363799)
1988
43
Fetal renal dysplasia: sonographic visualisation of six characteristic patterns with histological correlation. (3530100)
1986
44
Ligating the embryonic ureter facilitates the induction of renal dysplasia. (3749203)
1986
45
Ask-Upmark kidney with contralateral renal artery fibromuscular dysplasia. (4083318)
1985
46
Renal dysplasia and asplenia in two sibs. (729198)
1978
47
Spectrum of multicystic renal dysplasia: diagnosis and management. (675897)
1978
48
Renal hypoplasia and dysplasia: a radiological and pathological correlation. (1233441)
1975
49
A new probably X-linked inherited syndrome: congenital muscular torticollis, multiple keloids cryptorchidism and renal dysplasia. (4387470)
1968
50
Renal dysplasia. (6057865)
1967

Genetic Variations for Renal Dysplasia

Expression for genes affiliated with Renal Dysplasia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Renal Dysplasia

Search GEO for disease gene expression data for Renal Dysplasia.

Pathways for genes affiliated with Renal Dysplasia

Sources:
30KEGG
See all sources

Pathways related to Renal Dysplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9RET, SHH, BMP2, PDGFA

Compounds for genes affiliated with Renal Dysplasia

Sources:
45Novoseek, 24HMDB
See all sources

Compounds related to Renal Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1wortmannin459.9MST1R, RET, GDNF, BMP2
2tgf beta1459.8GDNF, GATA3, BMP2, PDGFA
3pd 98,059459.8PDGFA, BMP2, GDNF, RET, MST1R
4zinc45 2410.6SALL1, PDGFA, GATA3, GDNF, MMP7, LMX1B
5retinoic acid45 2410.6HNF1B, PDGFA, BMP2, GATA3, GDNF, RET
6ribonucleic acid459.5PDGFA, BMP2, RET, MMP7
7oligonucleotide459.5KRBOX4, HNF1B, PDGFA, BMP2, GATA3, GDNF
8glucose459.4HNF1B, UMOD, BMP2, USF2, GDNF, MMP7
9tyrosine459.3PDGFA, BMP2, GATA3, GDNF, RET, MMP7

GO Terms for genes affiliated with Renal Dysplasia

Sources:
16Gene Ontology
See all sources

Biological processes related to Renal Dysplasia according to GeneCards/GeneDecks:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1nephric duct morphogenesisGO:07217810.6LHX1, GATA3
2positive regulation of ureteric bud formationGO:07210710.6GATA3, GDNF
3ureteric bud formationGO:06067610.6GATA3, GDNF
4telencephalon regionalizationGO:02197810.6BMP2, SHH
5anatomical structure formation involved in morphogenesisGO:04864610.5LHX1, GATA3
6pronephros developmentGO:04879310.5HNF1B, LHX1
7ureter maturationGO:03579910.5GATA3, RET
8mesenchymal to epithelial transition involved in metanephros morphogenesisGO:00333710.5SALL1, GDNF
9uterus developmentGO:06006510.5GATA3, LHX1
10positive regulation of Wnt receptor signaling pathwayGO:03017710.5SHH, BMP2, SALL1
11dorsal/ventral pattern formationGO:00995310.5LMX1B, SHH, LHX1
12neural crest cell migrationGO:00175510.4SHH, GDNF, RET
13ventricular septum developmentGO:00328110.4GATA3, SALL1
14ureteric bud developmentGO:00165710.4LHX1, SALL1, RET
15inner ear developmentGO:04883910.4SHH, BMP2, PDGFA
16kidney developmentGO:00182210.4HNF1B, LHX1, SALL1, GATA3
17negative regulation of canonical Wnt receptor signaling pathwayGO:09009010.4BICC1, SHH, BMP2
18cellular response to BMP stimulusGO:07177310.4GATA3, BMP2
19anterior/posterior pattern specificationGO:00995210.3HNF1B, LHX1, SHH
20positive regulation of protein kinase B signaling cascadeGO:05189710.3MST1R, GATA3, PDGFA
21telencephalon developmentGO:02153710.3LHX1, BMP2
22branching involved in ureteric bud morphogenesisGO:00165810.2GDNF, SHH, BMP2, SALL1, LHX1
23embryo developmentGO:00979010.2PDGFA, BMP2, SHH
24positive regulation of branching involved in ureteric bud morphogenesisGO:09019010.2GDNF, LHX1
25organ morphogenesisGO:00988710.2BMP2, PDGFA, LHX1
26hindbrain developmentGO:03090210.1HNF1B, SHH
27cell-cell signalingGO:00726710.1LHX1, PDGFA, BMP2, SHH
28positive regulation of cell migrationGO:03033510.0RET, BMP2, PDGFA
29positive regulation of transcription, DNA-dependentGO:04589310.0HNF1B, LHX1, SALL1, BMP2, GATA3, SHH
30enteric nervous system developmentGO:0484849.9RET, GDNF
31positive regulation of transcription from RNA polymerase II promoterGO:0459449.8HNF1B, SALL1, BMP2, GATA3, USF2, SHH

Molecular functions related to Renal Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein heterodimerization activityGO:0469829.8USF2, BMP2, PDGFA, HNF1B
2sequence-specific DNA binding transcription factor activityGO:0037009.4LMX1B, HNF1B, LHX1, SALL1, GATA3, USF2

Products for genes affiliated with Renal Dysplasia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Renal Dysplasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet