MCID: PLV005
MIFTS: 30

Pelviureteric Junction Obstruction malady

Rare diseases, Nephrological diseases, Fetal diseases categories

Summaries for Pelviureteric Junction Obstruction

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MalaCards based summary: Pelviureteric Junction Obstruction, also known as bilateral multicystic dysplastic kidney, is related to multicystic dysplastic kidney and hydronephrosis, and has symptoms including multicystic kidney dysplasia, autosomal dominant inheritance and ureteropelvic junction obstruction. An important gene associated with Pelviureteric Junction Obstruction is HNF1B (HNF1 homeobox B). Affiliated tissues include kidney.

Description from OMIM:47 143400

Aliases & Classifications for Pelviureteric Junction Obstruction

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Sources:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 49Orphanet, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet, 27ICD10
See all sources

Pelviureteric Junction Obstruction, Aliases & Descriptions:

Name: Pelviureteric Junction Obstruction 47 11
Bilateral Multicystic Dysplastic Kidney 43 49
Multicystic Renal Dysplasia, Bilateral 47 43
Bilateral Multicystic Renal Dysplasia 43 49
Bilateral Mcdk 43 49
 
Pelvi-Ureteric Junction Obstruction 43
Hydronephrosis Due to Pujo 43
Pujo 43
Mrd 43


Classifications:

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


External Ids:

OMIM47 143400
Orphanet49 97364
MESH via Orphanet36 C537373, D021782
ICD10 via Orphanet28 Q61.4
UMLS via Orphanet63 C1567427, C1840451

Related Diseases for Pelviureteric Junction Obstruction

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Diseases related to Pelviureteric Junction Obstruction via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 22)
idRelated DiseaseScoreTop Affiliating Genes
1multicystic dysplastic kidney10.6
2hydronephrosis10.5
3renal dysplasia10.4
4leukemia10.4
5obesity10.4
6mantle cell lymphoma10.4
7nephrolithiasis10.4
8anuria10.4
9polycystic kidney disease10.4
10achalasia10.4
11disseminated intravascular coagulation10.4
12kidney disease10.4
13horseshoe kidney10.4
14gastroschisis10.3
15oligohydramnios10.3
16mayer-rokitansky-kuster-hauser syndrome10.3
17myeloid leukemia10.3
18penile agenesis10.3
19lymphoblastic leukemia10.2
20breast cancer10.0
21wilms tumor10.0
22lymphoblastic lymphoma10.0

Graphical network of the top 20 diseases related to Pelviureteric Junction Obstruction:



Diseases related to pelviureteric junction obstruction

Symptoms for Pelviureteric Junction Obstruction

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Symptoms by clinical synopsis from OMIM:

143400

Clinical features from OMIM:

143400

HPO human phenotypes related to Pelviureteric Junction Obstruction:

(show all 7)
id Description Frequency HPO Source Accession
1 multicystic kidney dysplasia HP:0000003
2 autosomal dominant inheritance HP:0000006
3 ureteropelvic junction obstruction HP:0000074
4 nephrotic syndrome HP:0000100
5 hydronephrosis HP:0000126
6 renal sarcoma HP:0008663
7 congenital megaureter HP:0008676

Drugs & Therapeutics for Pelviureteric Junction Obstruction

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Drug clinical trials:

Search ClinicalTrials for Pelviureteric Junction Obstruction

Search NIH Clinical Center for Pelviureteric Junction Obstruction

Genetic Tests for Pelviureteric Junction Obstruction

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Anatomical Context for Pelviureteric Junction Obstruction

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MalaCards organs/tissues related to Pelviureteric Junction Obstruction:

33
Kidney

Animal Models for Pelviureteric Junction Obstruction or affiliated genes

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Publications for Pelviureteric Junction Obstruction

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Articles related to Pelviureteric Junction Obstruction:

idTitleAuthorsYear
1
Early alteration of urinary exosomal aquaporin 1 and transforming growth factor I^1 after release of unilateral pelviureteral junction obstruction. (22901921)
2012
2
Management of an unusual case of atypical Mayer-Rokitansky-Kuster-Hauser syndrome, with unilateral gonadal agenesis, solitary ectopic pelvic kidney, and pelviureteric junction obstruction. (17093891)
2007
3
Glial cell line-derived neurotrophic factor and synaptophysin expression in pelviureteral junction obstruction. (16461096)
2006
4
Pelviureteral junction obstruction: correlation of renal cell apoptosis and differential renal function. (12771794)
2003
5
Survival in second trimester oligohydramnios secondary to bilateral pelviureteral junction obstruction. (12736042)
2003

Variations for Pelviureteric Junction Obstruction

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Expression for genes affiliated with Pelviureteric Junction Obstruction

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Search GEO for disease gene expression data for Pelviureteric Junction Obstruction.

Pathways for genes affiliated with Pelviureteric Junction Obstruction

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Compounds for genes affiliated with Pelviureteric Junction Obstruction

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GO Terms for genes affiliated with Pelviureteric Junction Obstruction

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Products for genes affiliated with Pelviureteric Junction Obstruction

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Pelviureteric Junction Obstruction

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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