MCID: UMD001
MIFTS: 15

Umod-Associated Kidney Disease malady

Genetic diseases (common), Nephrological diseases categories

Aliases & Classifications for Umod-Associated Kidney Disease

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Umod-Associated Kidney Disease, Aliases & Descriptions:

Name: Umod-Associated Kidney Disease 19 20 22
Familial Juvenile Hyperuricemic Nephropathy 1 19
Medullary Cystic Kidney Disease Type 2 60
 
Medullary Cystic Kidney Disease 2 19
Uromodulin Storage Disease 19
Familial Juvenile Gout 60


Classifications:

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


Summaries for Umod-Associated Kidney Disease

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MalaCards based summary: Umod-Associated Kidney Disease, also known as familial juvenile hyperuricemic nephropathy 1, is related to medullary cystic kidney disease 2 and cystic kidney. An important gene associated with Umod-Associated Kidney Disease is UMOD (uromodulin). Affiliated tissues include kidney.

GeneReviews summary for mckd2

Related Diseases for Umod-Associated Kidney Disease

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Diseases related to Umod-Associated Kidney Disease via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1medullary cystic kidney disease 210.8
2cystic kidney10.3
3familial juvenile hyperuricaemic nephropathy10.3
4kidney disease10.3

Symptoms for Umod-Associated Kidney Disease

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Drugs & Therapeutics for Umod-Associated Kidney Disease

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Drug clinical trials:

Search ClinicalTrials for Umod-Associated Kidney Disease

Search NIH Clinical Center for Umod-Associated Kidney Disease

Genetic Tests for Umod-Associated Kidney Disease

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Genetic tests related to Umod-Associated Kidney Disease:

id Genetic test Affiliating Genes
1 Umod-Associated Kidney Disease20 22 UMOD

Anatomical Context for Umod-Associated Kidney Disease

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MalaCards organs/tissues related to Umod-Associated Kidney Disease:

31
Kidney

Animal Models for Umod-Associated Kidney Disease or affiliated genes

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Publications for Umod-Associated Kidney Disease

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Articles related to Umod-Associated Kidney Disease:

idTitleAuthorsYear
1
UMOD-Associated Kidney Disease (20301530)
1993

Variations for Umod-Associated Kidney Disease

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Clinvar genetic disease variations for Umod-Associated Kidney Disease:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1UMODNM_003361.3(UMOD): c.443G> A (p.Cys148Tyr)single nucleotide variantPathogenicrs28934582GRCh37Chr 16, 20360180: 20360180
2UMODNM_003361.3(UMOD): c.649T> C (p.Cys217Arg)single nucleotide variantPathogenicrs28934583GRCh37Chr 16, 20359974: 20359974
3UMODNM_003361.3(UMOD): c.307G> T (p.Gly103Cys)single nucleotide variantPathogenicrs28934584GRCh37Chr 16, 20360316: 20360316
4UMODNM_003361.3(UMOD): c.230G> A (p.Cys77Tyr)single nucleotide variantPathogenicrs121917768GRCh37Chr 16, 20360393: 20360393
5UMODNM_003361.3(UMOD): c.376T> C (p.Cys126Arg)single nucleotide variantPathogenicrs121917769GRCh37Chr 16, 20360247: 20360247
6UMODNM_003361.3(UMOD): c.383A> G (p.Asn128Ser)single nucleotide variantPathogenicrs121917770GRCh37Chr 16, 20360240: 20360240
7UMODNM_003361.3(UMOD): c.764G> A (p.Cys255Tyr)single nucleotide variantPathogenicrs121917771GRCh37Chr 16, 20359859: 20359859
8UMODNM_003361.3(UMOD): c.898T> G (p.Cys300Gly)single nucleotide variantPathogenicrs121917772GRCh37Chr 16, 20359620: 20359620
9UMODNM_003361.3(UMOD): c.817G> T (p.Val273Phe)single nucleotide variantPathogenicrs121917774GRCh37Chr 16, 20359806: 20359806
10UMODNM_003361.3(UMOD): c.649T> G (p.Cys217Gly)single nucleotide variantPathogenicrs28934583GRCh37Chr 16, 20359974: 20359974
11UMODNM_003361.3(UMOD): c.743G> C (p.Cys248Ser)single nucleotide variantPathogenicrs398122388GRCh37Chr 16, 20359880: 20359880

Expression for genes affiliated with Umod-Associated Kidney Disease

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Search GEO for disease gene expression data for Umod-Associated Kidney Disease.

Pathways for genes affiliated with Umod-Associated Kidney Disease

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Compounds for genes affiliated with Umod-Associated Kidney Disease

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GO Terms for genes affiliated with Umod-Associated Kidney Disease

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Products for genes affiliated with Umod-Associated Kidney Disease

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

Sources for Umod-Associated Kidney Disease

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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