MCID: RNL078
MIFTS: 52

Renal Dysplasia malady

Nephrological diseases, Fetal diseases, Rare diseases categories

Summaries for Renal Dysplasia

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

MalaCards based summary: 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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Sources:
49Orphanet, 24GTR, 62UMLS, 28ICD10 via Orphanet, 27ICD10
See all sources

Renal Dysplasia, Aliases & Descriptions:

Name: Renal Dysplasia 49 24 62


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
renal dysplasia:
Inheritance: Not applicable; Prevalence: 1-5/10000 (Europe); Age of onset: All ages,Antenatal; Age of death: any age


External Ids:

Orphanet49 93108
ICD10 via Orphanet28 Q61.4
ICD1027 Q61.4

Related Diseases for Renal Dysplasia

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

(show top 50)    (show all 202)
idRelated DiseaseScoreTop Affiliating Genes
1hypoparathyroidism30.9GATA3, RET
2polydactyly30.3SHH, SALL1
3renal hypodysplasia/aplasia 130.3SALL1, RET
4bilateral renal dysplasia10.5
5pelviureteric junction obstruction10.5
6hypoparathyroidism, sensorineural deafness, and renal dysplasia10.4
7renal dysplasia-limb defects syndrome10.4
8torticollis keloids cryptorchidism renal dysplasia10.4
9unilateral renal dysplasia10.4
10urethritis10.3
11situs inversus10.3
12short-rib thoracic dysplasia 9 with or without polydactyly10.3
13renal dysplasia megalocystis sirenomelia10.3
14renal dysplasia, cystic10.3
15vaginitis10.3
16perlman syndrome10.2
17wilms tumor10.2
18senior-loken syndrome-110.2
19hydronephrosis10.2
20pancreatitis10.2
21gigantism10.2
22posterior urethral valves10.2
23renal dysplasia diffuse cystic10.2
24vacterl association10.1
25hepatitis10.1
26ureteral obstruction10.1
27ureterocele10.1
28pyelonephritis10.1
29horseshoe kidney10.1
30unilateral renal agenesis10.1
31unilateral multicystic dysplastic kidney10.1
32renal hypodysplasia/aplasia 210.1
33smith-lemli-opitz syndrome10.1
34townes-brocks syndrome10.1
35digeorge syndrome10.1
36cryptorchidism10.1
37alagille syndrome10.1
38eagle-barrett syndrome10.1
39keloids10.1
40imperforate anus10.1
41hypercalcemia10.1
42cerebritis10.1
43renal-hepatic-pancreatic dysplasia10.1
44simpson-golabi-behmel syndrome10.1
45adenoma10.1
46cystic teratoma10.1
47esophagitis10.1
48nephrotic syndrome10.1
49oligohydramnios10.1
50retinitis10.1

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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Drug clinical trials:

Search ClinicalTrials for Renal Dysplasia

Search NIH Clinical Center for Renal Dysplasia

Genetic Tests for Renal Dysplasia

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Genetic tests related to Renal Dysplasia:

id Genetic test Affiliating Genes
1 Renal Dysplasia24

Anatomical Context for Renal Dysplasia

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MalaCards organs/tissues related to Renal Dysplasia:

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

Animal Models for Renal Dysplasia or affiliated genes

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Publications for Renal Dysplasia

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Articles related to Renal Dysplasia:

(show top 50)    (show all 323)
idTitleAuthorsYear
1
Fetal and Postnatal Magnetic Resonance Imaging of Unilateral Cystic Renal Dysplasia in a Neonate with Tuberous Sclerosis. (24495558)
2014
2
Allelic variation in the canine Cox-2 promoter causes hypermethylation of the canine Cox-2 promoter in clinical cases of renal dysplasia. (24708682)
2014
3
I^-catenin overexpression in the metanephric mesenchyme leads to renal dysplasia genesis via cell-autonomous and non-cell-autonomous mechanisms. (24637293)
2014
4
Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia. (23262432)
2013
5
Transumbilical multiport laparoscopic nephroureterectomy for congenital renal dysplasia in children: midterm follow-up from a single institution. (24400291)
2013
6
Ahsa1 and Hsp90 activity confers more severe craniofacial phenotypes in a zebrafish model of hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR). (23720234)
2013
7
Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation. (21845392)
2013
8
Matrilysin (MMP-7) inhibition of BMP-7 induced renal tubular branching morphogenesis suggests a role in the pathogenesis of human renal dysplasia. (22215634)
2012
9
Multicystic renal dysplasia: a diagnostic dilemma. (22696732)
2011
10
Squamous cysts arising from segmental renal dysplasia. (21603906)
2011
11
Ultrasonographic findings in Cairn Terriers with preclinical renal dysplasia. (20806879)
2010
12
HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication. (19659764)
2009
13
Evaluation of reflux nephropathy, pyelonephritis and renal dysplasia. (18071688)
2008
14
Fetal magnetic resonance imaging of bilateral cystic renal dysplasia. (18936010)
2008
15
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
16
Bilateral multicystic renal dysplasia with potter sequence. A case with penile agenesis. (17106555)
2006
17
FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association? (17375526)
2006
18
Renal dysplasia and urinary tract infection in a Bull Mastiff puppy. (15080453)
2003
19
Bilateral renal dysplasia and situs inversus totalis in an infant girl. (12605452)
2003
20
Multicystic renal dysplasia. (11479648)
2001
21
Ectopic ureter associated with renal dysplasia. (10589172)
1999
22
Short-rib polydactyly syndrome, Beemer-Langer type, with bilateral huge polycystic renal dysplasia: an autopsy case. (9610623)
1998
23
Renal dysplasia: the risks and consequences of leaving dysplastic tissue in situ. (9763067)
1998
24
Clinical features of unilateral multicystic renal dysplasia in children. (9727853)
1998
25
Involution rate of multicystic renal dysplasia. (9832601)
1998
26
Increased expression of platelet-derived growth factor A and collagenous matrix proteins in congenital multicystic renal dysplasia. (9200407)
1997
27
Say syndrome: a new case with cystic renal dysplasia in discordant monozygotic twins. (9182773)
1997
28
Renal dysplasia: an autopsy study of 36 cases. (8972160)
1996
29
Structure, sequence, and chromosome 19 localization of human USF2 and its rearrangement in a patient with multicystic renal dysplasia. (8954795)
1996
30
Renal dysplasia in a Rhodesian ridgeback dog. (8934429)
1996
31
Gartner's duct cyst with a single vaginal ectopic ureter and associated renal dysplasia or agenesis. (8301720)
1993
32
Renal dysplasia, megalocystis, and sirenomelia in four siblings. (8475459)
1993
33
Pathology of renal dysplasia and bladder aplasia-hypoplasia in a flock of sheep. (8286460)
1993
34
Calcium phosphate urolithiasis and renal dysplasia in a young dog. (1612988)
1992
35
Hereditary retinal-renal dysplasia. (1459706)
1992
36
Harlequin fetus with polydactyly and renal dysplasia. (2279815)
1990
37
Renal dysplasia in a pig. (3168470)
1988
38
Mosaic trisomy 7 and renal dysplasia. (3812554)
1987
39
Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism, and multiple congenital anomalies. (3024486)
1986
40
Correction of congenital hydronephrosis in utero IV: in utero decompression prevents renal dysplasia. (6520669)
1984
41
Primitive ducts of renal dysplasia induced by culturing ureteral buds denuded of condensed renal mesenchyme. (6823548)
1983
42
Renal dysplasia of the sacral region: metanephric dysplastic hamartoma of the sacral region. (6419458)
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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Search GEO for disease gene expression data for Renal Dysplasia.

Pathways for genes affiliated with Renal Dysplasia

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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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Sources:
45Novoseek, 26HMDB
See all sources

Compounds related to Renal Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1retinoic acid45 269.9GATA3, HNF1B, RET
2oligonucleotide458.8GATA3, HNF1B, RET
3arginine458.2HNF1B, RET, SALL1

GO Terms for genes affiliated with Renal Dysplasia

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Cellular components related to Renal Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1membrane raftGO:00451219.4RET, SHH

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1thymus developmentGO:00485389.8SHH, GATA3
2hindbrain developmentGO:00309029.8HNF1B, SHH
3ureter maturationGO:00357999.8RET, GATA3
4embryonic digestive tract morphogenesisGO:00485579.8HNF1B, SHH
5branching morphogenesis of an epithelial tubeGO:00487549.7HNF1B, SHH
6neural crest cell migrationGO:00017559.6RET, SHH
7ventricular septum developmentGO:00032819.5GATA3, SALL1
8positive regulation of Wnt signaling pathwayGO:00301779.4SHH, SALL1
9negative regulation of canonical Wnt signaling pathwayGO:00900909.4SHH, BICC1
10embryonic digit morphogenesisGO:00427339.3SALL1, SHH
11branching involved in ureteric bud morphogenesisGO:00016589.3SHH, SALL1
12anterior/posterior pattern specificationGO:00099529.2HNF1B, SHH
13heart developmentGO:00075079.2SALL1, SHH
14ureteric bud developmentGO:00016579.2SALL1, RET
15kidney developmentGO:00018229.0GATA3, HNF1B, SALL1
16negative regulation of transcription from RNA polymerase II promoterGO:00001228.7HNF1B, SALL1, SHH
17positive regulation of transcription from RNA polymerase II promoterGO:00459448.6SHH, SALL1, HNF1B, GATA3
18positive regulation of transcription, DNA-templatedGO:00458938.0GATA3, HNF1B, RET, SALL1, SHH

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

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:00442129.4HNF1B, GATA3
2sequence-specific DNA binding transcription factor activityGO:00037008.4GATA3, SALL1, HNF1B
3protein bindingGO:00055157.6GATA3, HNF1B, SALL1, SHH, RET

Products for genes affiliated with Renal Dysplasia

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Sources for Renal Dysplasia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet