MCID: ATS312
MIFTS: 16

Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related

Categories: Rare diseases, Nephrological diseases, Genetic 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 24 53
Umod-Associated Kidney Disease 24 53 29
Adtkd-Umod 24 53 59
Umod-Related Autosomal Dominant Tubulointerstitial Kidney Disease 53 59
Autosomal Dominant Medullary Cystic Kidney Disease Type 2 53 59
Familial Juvenile Hyperuricemic Nephropathy 1 24 53
Medullary Cystic Kidney Disease 2 24 53
Uromodulin Kidney Disease 24 53
Umod-Related Adtkd 53 59
Mckd2 53 59
Medullary Cystic Kidney Disease 2, Autosomal Dominant 53
Medullary Cystic Kidney Disease Type 2 73
Familial Juvenile Gout 73
Admckd2 53

Characteristics:

GeneReviews:

24
Penetrance Penetrance appears to be complete, although some individuals (especially females) may not develop esrd until the sixth or seventh decade...

Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

Orphanet 59 ORPHA88950
ICD10 via Orphanet 34 Q61.5

Summaries for 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 in the Autosomal Dominant Tubulointerstitial Kidney Disease family:

Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related Autosomal Dominant Tubulointerstitial Kidney Disease, Ren-Related
Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related Autosomal Dominant Tubulointerstitial Kidney Disease Due to Ren Mutations

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 autosomal dominant tubulointerstitial kidney disease 11.0
5 cystic kidney disease 9.9
6 kidney disease 9.9
7 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 29

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

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

41
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,...

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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