MCID: ATS312
MIFTS: 14

Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related malady

Categories: Genetic diseases (common), Nephrological diseases

Aliases & Classifications for Autosomal Dominant Tubulointerstitial Kidney Disease,...

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Aliases & Descriptions for Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related:

Name: Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related 23
Umod-Associated Kidney Disease 23 24 27
Familial Juvenile Hyperuricemic Nephropathy Type 1 24
Familial Juvenile Hyperuricemic Nephropathy 1 23
Medullary Cystic Kidney Disease Type 2 68
Uromodulin-Associated Kidney Disease 24
Familial Juvenile Gouty Nephropathy 24
 
Medullary Cystic Kidney Disease 2 23
Familial Nephropathy with Gout 24
Uromodulin Storage Disease 24
Uromodulin Kidney Disease 23
Familial Juvenile Gout 68
Adtkd-Umod 23

Characteristics:

GeneReviews:

23
Penetrance: penetrance appears to be complete, although some individuals (especially females) may not develop esrd until the sixth or seventh decade...


Classifications:



Summaries for Autosomal Dominant Tubulointerstitial Kidney Disease,...

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

GeneReviews for NBK1356

Related Diseases for Autosomal Dominant Tubulointerstitial Kidney Disease,...

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Graphical network of diseases related to Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related:



Diseases related to autosomal dominant tubulointerstitial kidney disease, umod-related

Symptoms & Phenotypes for Autosomal Dominant Tubulointerstitial Kidney Disease,...

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Drugs & Therapeutics for Autosomal Dominant Tubulointerstitial Kidney Disease,...

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related

Genetic Tests for Autosomal Dominant Tubulointerstitial Kidney Disease,...

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Genetic tests related to Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related:

id Genetic test Affiliating Genes
1 Umod-Associated Kidney Disease27 24 UMOD

Anatomical Context for Autosomal Dominant Tubulointerstitial Kidney Disease,...

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MalaCards organs/tissues related to Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related:

36
Kidney

Publications for Autosomal Dominant Tubulointerstitial Kidney Disease,...

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Variations for Autosomal Dominant Tubulointerstitial Kidney Disease,...

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Clinvar genetic disease variations for Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related:

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1UMODUMOD, 27-BP DEL, NT1966deletionPathogenicChr na, -1: -1
2UMODNM_003361.3(UMOD): c.443G> A (p.Cys148Tyr)SNVPathogenicrs28934582GRCh37Chr 16, 20360180: 20360180
3UMODNM_003361.3(UMOD): c.649T> C (p.Cys217Arg)SNVPathogenicrs28934583GRCh37Chr 16, 20359974: 20359974
4UMODNM_003361.3(UMOD): c.230G> A (p.Cys77Tyr)SNVPathogenicrs121917768GRCh37Chr 16, 20360393: 20360393
5UMODNM_003361.3(UMOD): c.376T> C (p.Cys126Arg)SNVPathogenicrs121917769GRCh37Chr 16, 20360247: 20360247
6UMODNM_003361.3(UMOD): c.383A> G (p.Asn128Ser)SNVPathogenicrs121917770GRCh37Chr 16, 20360240: 20360240
7UMODNM_003361.3(UMOD): c.764G> A (p.Cys255Tyr)SNVPathogenicrs121917771GRCh37Chr 16, 20359859: 20359859
8UMODNM_003361.3(UMOD): c.898T> G (p.Cys300Gly)SNVPathogenicrs121917772GRCh37Chr 16, 20359620: 20359620
9UMODNM_003361.3(UMOD): c.817G> T (p.Val273Phe)SNVPathogenicrs121917774GRCh37Chr 16, 20359806: 20359806
10UMODNM_003361.3(UMOD): c.744C> G (p.Cys248Trp)SNVPathogenicrs886043751GRCh37Chr 16, 20359879: 20359879
11UMODNM_003361.3(UMOD): c.649T> G (p.Cys217Gly)SNVPathogenicrs28934583GRCh37Chr 16, 20359974: 20359974
12UMODNM_003361.3(UMOD): c.743G> C (p.Cys248Ser)SNVPathogenicrs398122388GRCh37Chr 16, 20359880: 20359880

Expression for genes affiliated with Autosomal Dominant Tubulointerstitial Kidney Disease,...

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Search GEO for disease gene expression data for Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related.

Pathways for genes affiliated with Autosomal Dominant Tubulointerstitial Kidney Disease,...

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GO Terms for genes affiliated with Autosomal Dominant Tubulointerstitial Kidney Disease,...

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Sources for Autosomal Dominant Tubulointerstitial Kidney Disease,...

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet