MCID: GLM024
MIFTS: 16

Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria malady

Genetic diseases (common) category

Aliases & Classifications for Glomerulocystic Kidney Disease with Hyperuricemia and...

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Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria, Aliases & Descriptions:

Name: Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 45 10 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 609886

Summaries for Glomerulocystic Kidney Disease with Hyperuricemia and...

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OMIM:45 Glomerulocystic kidney disease is characterized by cystic dilatation of the Bowman space and the initial proximal... (609886) more...

MalaCards based summary: Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria is related to kidney disease and hyperuricemic nephropathy, familial juvenile 1, and has symptoms including autosomal dominant inheritance, renal insufficiency and abnormality of the renal tubule. An important gene associated with Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria is UMOD (uromodulin). Affiliated tissues include kidney.

Related Diseases for Glomerulocystic Kidney Disease with Hyperuricemia and...

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Diseases related to Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1kidney disease10.1UMOD
2hyperuricemic nephropathy, familial juvenile 19.8UMOD, MCKD2
3medullary cystic kidney disease 29.7UMOD, MCKD2

Symptoms for Glomerulocystic Kidney Disease with Hyperuricemia and...

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Clinical features from OMIM:

609886

HPO human phenotypes related to Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 renal insufficiency HP:0000083
3 abnormality of the renal tubule HP:0000091
4 hyperuricemia HP:0002149

Drugs & Therapeutics for Glomerulocystic Kidney Disease with Hyperuricemia and...

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Drug clinical trials:

Search ClinicalTrials for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria

Search NIH Clinical Center for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria

Genetic Tests for Glomerulocystic Kidney Disease with Hyperuricemia and...

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Genetic tests related to Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:

id Genetic test Affiliating Genes
1 Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria22

Anatomical Context for Glomerulocystic Kidney Disease with Hyperuricemia and...

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MalaCards organs/tissues related to Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:

31
Kidney

Animal Models for Glomerulocystic Kidney Disease with Hyperuricemia and... or affiliated genes

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Publications for Glomerulocystic Kidney Disease with Hyperuricemia and...

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Variations for Glomerulocystic Kidney Disease with Hyperuricemia and...

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UniProtKB/Swiss-Prot genetic disease variations for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:

62
id Symbol AA change Variation ID SNP ID
1UMODp.Cys315ArgVAR_025961

Clinvar genetic disease variations for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria:

6
id Gene Variation Type Significance SNP ID Assembly Location
1UMODNM_003361.3(UMOD): c.943T> C (p.Cys315Arg)single nucleotide variantPathogenicrs121917773GRCh37Chr 16, 20359575: 20359575

Expression for genes affiliated with Glomerulocystic Kidney Disease with Hyperuricemia and...

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Search GEO for disease gene expression data for Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria.

Pathways for genes affiliated with Glomerulocystic Kidney Disease with Hyperuricemia and...

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Compounds for genes affiliated with Glomerulocystic Kidney Disease with Hyperuricemia and...

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GO Terms for genes affiliated with Glomerulocystic Kidney Disease with Hyperuricemia and...

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Products for genes affiliated with Glomerulocystic Kidney Disease with Hyperuricemia and...

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

Sources for Glomerulocystic Kidney Disease with Hyperuricemia and...

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet