MCID: UMD001
MIFTS: 19

Umod-Associated Kidney Disease malady

Genetic diseases, Nephrological diseases, Metabolic diseases, Rare diseases categories

Aliases & Classifications for Umod-Associated Kidney Disease

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Aliases & Descriptions for Umod-Associated Kidney Disease:

Name: Umod-Associated Kidney Disease 21 22 24
Familial Juvenile Hyperuricemic Nephropathy 1 21 22
Familial Juvenile Gouty Nephropathy 22 51
Familial Nephropathy with Gout 22 51
Uromodulin Storage Disease 21 22
Umod-Associated Familial Juvenile Hyperuricemic Nephropathy 51
Familial Juvenile Hyperuricemic Nephropathy Type 1 51
 
Medullary Cystic Kidney Disease Type 2 65
Uromodulin-Associated Kidney Disease 22
Medullary Cystic Kidney Disease 2 21
Familial Juvenile Gout 65
Umod-Associated Fjhn 51
Fjhn Type 1 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
familial juvenile gouty nephropathy:
Inheritance: Autosomal dominant; Age of onset: All ages


External Ids:

Orphanet51 209886

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 hyperuricemic nephropathy, familial juvenile 1. 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
2hyperuricemic nephropathy, familial juvenile 110.6
3cystic kidney10.3
4familial juvenile hyperuricaemic nephropathy10.3
5kidney disease10.3

Graphical network of diseases related to Umod-Associated Kidney Disease:



Diseases related to umod-associated kidney disease

Symptoms for Umod-Associated Kidney Disease

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Drugs & Therapeutics for Umod-Associated Kidney Disease

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Interventional clinical trials:

Search ClinicalTrials, 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 Disease22 24 UMOD
2 Familial Juvenile Hyperuricemic Nephropathy Type 122 UMOD

Anatomical Context for Umod-Associated Kidney Disease

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

33
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:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1UMODUMOD, 27-BP DEL, NT1966deletionPathogenic
2UMODNM_003361.3(UMOD): c.443G> A (p.Cys148Tyr)single nucleotide variantPathogenicrs28934582GRCh37Chr 16, 20360180: 20360180
3UMODNM_003361.3(UMOD): c.649T> C (p.Cys217Arg)single nucleotide variantPathogenicrs28934583GRCh37Chr 16, 20359974: 20359974
4UMODNM_003361.3(UMOD): c.307G> T (p.Gly103Cys)single nucleotide variantPathogenicrs28934584GRCh37Chr 16, 20360316: 20360316
5UMODNM_003361.3(UMOD): c.230G> A (p.Cys77Tyr)single nucleotide variantPathogenicrs121917768GRCh37Chr 16, 20360393: 20360393
6UMODNM_003361.3(UMOD): c.376T> C (p.Cys126Arg)single nucleotide variantPathogenicrs121917769GRCh37Chr 16, 20360247: 20360247
7UMODNM_003361.3(UMOD): c.383A> G (p.Asn128Ser)single nucleotide variantPathogenicrs121917770GRCh37Chr 16, 20360240: 20360240
8UMODNM_003361.3(UMOD): c.764G> A (p.Cys255Tyr)single nucleotide variantPathogenicrs121917771GRCh37Chr 16, 20359859: 20359859
9UMODNM_003361.3(UMOD): c.898T> G (p.Cys300Gly)single nucleotide variantPathogenicrs121917772GRCh37Chr 16, 20359620: 20359620
10UMODNM_003361.3(UMOD): c.817G> T (p.Val273Phe)single nucleotide variantPathogenicrs121917774GRCh37Chr 16, 20359806: 20359806
11UMODNM_003361.3(UMOD): c.649T> G (p.Cys217Gly)single nucleotide variantPathogenicrs28934583GRCh37Chr 16, 20359974: 20359974
12UMODNM_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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GO Terms for genes affiliated with Umod-Associated Kidney Disease

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Sources for Umod-Associated Kidney Disease

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet