MCID: RNL078
MIFTS: 47

Renal Dysplasia malady

Genetic diseases, Nephrological diseases, Fetal diseases, Rare diseases categories
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Summaries for Renal Dysplasia

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Sources:
65Wikipedia, 33MalaCards
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Wikipedia:65 Multicystic dysplastic kidney (MCDK) is a condition that results from the malformation of the kidney... more...

MalaCards: Renal Dysplasia is related to hypoparathyroidism and polydactyly. An important gene associated with Renal Dysplasia is GATA3 (GATA binding protein 3), and among its related pathways is SIDS Susceptibility Pathways. The compounds retinoic acid and oligonucleotide have been mentioned in the context of this disorder. Affiliated tissues include kidney, uterus and heart, and related mouse phenotypes are hearing/vestibular/ear and muscle.

Aliases & Classifications for Renal Dysplasia

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49Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
renal dysplasia:
Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

renal dysplasia 49


External Ids:

ICD10 via Orphanet26 Q61.4

Related Diseases for Renal Dysplasia

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17GeneCards, 18GeneDecks
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Diseases in the Chronic Kidney Failure family:

Acute Kidney Failure Kidney Disease
Renal Infectious Disease Ren-Related Kidney Disease
renal dysplasia

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

(show top 50)    (show all 201)
idRelated DiseaseScoreTop Affiliating Genes
1hypoparathyroidism30.8GATA3, RET
2polydactyly30.2SHH, SALL1
3renal agenesis30.2SALL1, RET
4bilateral renal dysplasia10.5
5renal dysplasia-limb defects syndrome10.4
6torticollis keloids cryptorchidism renal dysplasia10.4
7unilateral renal dysplasia10.4
8multicystic renal dysplasia, bilateral10.3
9urethritis10.3
10situs inversus10.3
11vaginitis10.2
12hypertension10.2
13pancreatitis10.2
14wilms tumor10.2
15gigantism10.2
16posterior urethral valves10.2
17renal dysplasia diffuse cystic10.2
18renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia10.2
19posterior urethral valve10.2
20ureteral obstruction10.1
21ureterocele10.1
22hydronephrosis10.1
23senior-loken syndrome10.1
24hepatitis10.1
25pyelonephritis10.1
26barakat syndrome10.1
27horseshoe kidney10.1
28selig benacerraf greene syndrome10.1
29senior-loken syndrome 110.1
30teratoma10.1
31unilateral renal agenesis10.1
32vesicoureteral reflux10.0
33imperforate anus10.0
34hypercalcemia10.0
35cryptorchidism10.0
36digeorge syndrome10.0
37smith-lemli-opitz syndrome10.0
38vacterl association10.0
39adenoma10.0
40cystic teratoma10.0
41esophagitis10.0
42nephroblastoma10.0
43nephrotic syndrome10.0
44oligohydramnios10.0
45retinitis10.0
46congenital hepatic fibrosis10.0
47chondrodysplasia10.0
48jejunal atresia10.0
49prune belly syndrome10.0
50renal dysplasia diffuse autosomal recessive10.0

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



Diseases related to renal dysplasia

Symptoms for Renal Dysplasia

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Drugs & Therapeutics for Renal Dysplasia

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Renal Dysplasia

Search NIH Clinical Center for Renal Dysplasia

Genetic Tests for Renal Dysplasia

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Anatomical Context for Renal Dysplasia

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33MalaCards
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MalaCards organs/tissues related to Renal Dysplasia:

33
Kidney, Uterus, Heart, Placenta, Pancreas, Testis, Pituitary

Animal Models for Renal Dysplasia or affiliated genes

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37MGI
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Publications for Renal Dysplasia

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52PubMed
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Articles related to Renal Dysplasia:

(show top 50)    (show all 314)
idTitleAuthorsYear
1
Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia. (23262432)
2013
2
Transumbilical multiport laparoscopic nephroureterectomy for congenital renal dysplasia in children: midterm follow-up from a single institution. (24400291)
2013
3
Ahsa1 and Hsp90 activity confers more severe craniofacial phenotypes in a zebrafish model of hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR). (23720234)
2013
4
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation. (21845392)
2013
5
Matrilysin (MMP-7) inhibition of BMP-7 induced renal tubular branching morphogenesis suggests a role in the pathogenesis of human renal dysplasia. (22215634)
2012
6
Segmental renal dysplasia presenting as a solid mass on sonography. (22368144)
2012
7
Multicystic renal dysplasia: a diagnostic dilemma. (22696732)
2011
8
Squamous cysts arising from segmental renal dysplasia. (21603906)
2011
9
Ultrasonographic findings in Cairn Terriers with preclinical renal dysplasia. (20806879)
2010
10
HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication. (19659764)
2009
11
Evaluation of reflux nephropathy, pyelonephritis and renal dysplasia. (18071688)
2008
12
Fetal magnetic resonance imaging of bilateral cystic renal dysplasia. (18936010)
2008
13
Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations. (17309062)
2007
14
Bilateral multicystic renal dysplasia with potter sequence. A case with penile agenesis. (17106555)
2006
15
FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association? (17375526)
2006
16
Renal dysplasia and urinary tract infection in a Bull Mastiff puppy. (15080453)
2003
17
Bilateral renal dysplasia and situs inversus totalis in an infant girl. (12605452)
2003
18
Multicystic renal dysplasia. (11479648)
2001
19
Ectopic ureter associated with renal dysplasia. (10589172)
1999
20
Short-rib polydactyly syndrome, Beemer-Langer type, with bilateral huge polycystic renal dysplasia: an autopsy case. (9610623)
1998
21
Renal dysplasia: the risks and consequences of leaving dysplastic tissue in situ. (9763067)
1998
22
Clinical features of unilateral multicystic renal dysplasia in children. (9727853)
1998
23
Involution rate of multicystic renal dysplasia. (9832601)
1998
24
Increased expression of platelet-derived growth factor A and collagenous matrix proteins in congenital multicystic renal dysplasia. (9200407)
1997
25
Say syndrome: a new case with cystic renal dysplasia in discordant monozygotic twins. (9182773)
1997
26
Renal dysplasia: an autopsy study of 36 cases. (8972160)
1996
27
Structure, sequence, and chromosome 19 localization of human USF2 and its rearrangement in a patient with multicystic renal dysplasia. (8954795)
1996
28
Renal dysplasia in a Rhodesian ridgeback dog. (8934429)
1996
29
Gartner's duct cyst with a single vaginal ectopic ureter and associated renal dysplasia or agenesis. (8301720)
1993
30
Renal dysplasia, megalocystis, and sirenomelia in four siblings. (8475459)
1993
31
Pathology of renal dysplasia and bladder aplasia-hypoplasia in a flock of sheep. (8286460)
1993
32
Calcium phosphate urolithiasis and renal dysplasia in a young dog. (1612988)
1992
33
Hereditary retinal-renal dysplasia. (1459706)
1992
34
Harlequin fetus with polydactyly and renal dysplasia. (2279815)
1990
35
Renal dysplasia in a pig. (3168470)
1988
36
Mosaic trisomy 7 and renal dysplasia. (3812554)
1987
37
Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism, and multiple congenital anomalies. (3024486)
1986
38
Fetal renal dysplasia: sonographic visualisation of six characteristic patterns with histological correlation. (3530100)
1986
39
Correction of congenital hydronephrosis in utero IV: in utero decompression prevents renal dysplasia. (6520669)
1984
40
Primitive ducts of renal dysplasia induced by culturing ureteral buds denuded of condensed renal mesenchyme. (6823548)
1983
41
Renal dysplasia of the sacral region: metanephric dysplastic hamartoma of the sacral region. (6419458)
1983
42
Chronic renal failure due to unilateral renal agenesis and total renal dysplasia (= aplasia). Report of three cases. (6873081)
1983
43
The pathogenesis of renal dysplasia. III. Complete and incomplete urinary obstruction. (7196894)
1981
44
Parenchymal reflux in renal dysplasia. (7302223)
1981
45
Nodular renal blastema, renal dysplasia and duplicated collecting systems. (6243367)
1980
46
Ectopic ureterocele, hydroureter, and renal dysplasia: an embryogenic triad. (628989)
1978
47
The Smith-Lemli-Opitz syndrome. Report of a consanguineous Arab infant with bilateral focal renal dysplasia. (862305)
1977
48
Bilateral renal dysplasia in three siblings: report of a survivor. (1253459)
1976
49
Duplex kidneys: a correlation of renal dysplasia with position of the ureteral orifice. (1171997)
1975
50
Roentgen diagnosis of multicystic renal dysplasia in infancy by high dose urography. (5082756)
1972

Variations for Renal Dysplasia

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Expression for genes affiliated with Renal Dysplasia

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2BioGPS, 15Gene Expression Omnibus DataSets
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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

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50PathCards, 38NCBI BioSystems Database
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Pathways related to Renal Dysplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4GATA3, RET

Compounds for genes affiliated with Renal Dysplasia

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45Novoseek, 24HMDB
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Compounds related to Renal Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1retinoic acid45 249.9GATA3, HNF1B, RET
2oligonucleotide458.8GATA3, HNF1B, RET
3arginine458.2HNF1B, RET, SALL1

GO Terms for genes affiliated with Renal Dysplasia

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16Gene Ontology
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Cellular components related to Renal Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1membrane raftGO:0451219.4RET, SHH

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1thymus developmentGO:0485389.8SHH, GATA3
2hindbrain developmentGO:0309029.8HNF1B, SHH
3ureter maturationGO:0357999.8RET, GATA3
4embryonic digestive tract morphogenesisGO:0485579.8HNF1B, SHH
5branching morphogenesis of an epithelial tubeGO:0487549.7HNF1B, SHH
6neural crest cell migrationGO:0017559.6RET, SHH
7ventricular septum developmentGO:0032819.5GATA3, SALL1
8positive regulation of Wnt signaling pathwayGO:0301779.4SHH, SALL1
9negative regulation of canonical Wnt signaling pathwayGO:0900909.4SHH, BICC1
10embryonic digit morphogenesisGO:0427339.3SALL1, SHH
11branching involved in ureteric bud morphogenesisGO:0016589.3SHH, SALL1
12anterior/posterior pattern specificationGO:0099529.2HNF1B, SHH
13heart developmentGO:0075079.2SALL1, SHH
14ureteric bud developmentGO:0016579.2SALL1, RET
15kidney developmentGO:0018229.0GATA3, HNF1B, SALL1
16negative regulation of transcription from RNA polymerase II promoterGO:0001228.7HNF1B, SALL1, SHH
17positive regulation of transcription from RNA polymerase II promoterGO:0459448.6SHH, SALL1, HNF1B, GATA3
18positive regulation of transcription, DNA-templatedGO:0458938.0GATA3, HNF1B, RET, SALL1, SHH

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

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:0442129.4GATA3, HNF1B
2sequence-specific DNA binding transcription factor activityGO:0037008.4GATA3, HNF1B, SALL1
3protein bindingGO:0055157.6SALL1, RET, HNF1B, GATA3, SHH

Products for genes affiliated with Renal Dysplasia

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  • Antibodies
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  • Antibodies

Sources for Renal Dysplasia

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet