MCID: ATS312
MIFTS: 17

Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related

Categories: Rare diseases, Genetic diseases, Nephrological diseases

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

MalaCards integrated aliases for Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related:

Name: Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related 23 49
Umod-Associated Kidney Disease 23 49 28
Adtkd-Umod 23 49 55
Umod-Related Autosomal Dominant Tubulointerstitial Kidney Disease 49 55
Autosomal Dominant Medullary Cystic Kidney Disease Type 2 49 55
Familial Juvenile Hyperuricemic Nephropathy 1 23 49
Medullary Cystic Kidney Disease 2 23 49
Uromodulin Kidney Disease 23 49
Umod-Related Adtkd 49 55
Mckd2 49 55
Medullary Cystic Kidney Disease 2, Autosomal Dominant 49
Medullary Cystic Kidney Disease Type 2 69
Familial Juvenile Gout 69
Admckd2 49

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:

Orphanet: 55  
Rare renal diseases


External Ids:

Orphanet 55 ORPHA88950
ICD10 via Orphanet 33 Q61.5

Summaries for Autosomal Dominant Tubulointerstitial Kidney Disease,...

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Autosomal dominant tubulointerstitial kidney disease.

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: NBK1356

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

Diseases related to Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 medullary cystic kidney disease 2 12.7
2 hyperuricemic nephropathy, familial juvenile, 1 12.1
3 nephronophthisis 11.0
4 cystic kidney disease 9.9
5 kidney disease 9.9
6 familial juvenile hyperuricaemic nephropathy 9.9

Graphical network of the top 20 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,...

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

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

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

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

# Genetic test Affiliating Genes
1 Umod-Associated Kidney Disease 28

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

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

38
Kidney

Publications for Autosomal Dominant Tubulointerstitial Kidney Disease,...

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

# Title Authors Year
1
UMOD-Associated Kidney Disease ( 20301530 )
1993

Variations for Autosomal Dominant Tubulointerstitial Kidney Disease,...

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 UMOD NM_003361.3(UMOD): c.307G> T (p.Gly103Cys) single nucleotide variant Pathogenic rs28934584 GRCh37 Chromosome 16, 20360316: 20360316
2 UMOD NM_003361.3(UMOD): c.278_289delTCTGCCCCGAAGinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys) indel Pathogenic rs878855325 GRCh38 Chromosome 16, 20349012: 20349023
3 UMOD NM_003361.3(UMOD): c.744C> G (p.Cys248Trp) single nucleotide variant Pathogenic rs886043751 GRCh37 Chromosome 16, 20359879: 20359879
4 UMOD NM_003361.3(UMOD): c.947A> C (p.Gln316Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 20359571: 20359571

Expression for Autosomal Dominant Tubulointerstitial Kidney Disease,...

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

Pathways for Autosomal Dominant Tubulointerstitial Kidney Disease,...

GO Terms for Autosomal Dominant Tubulointerstitial Kidney Disease,...

Sources for Autosomal Dominant Tubulointerstitial Kidney Disease,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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