MCKD2
MCID: ATS312
MIFTS: 17

Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related (MCKD2)

Categories: Genetic diseases, Nephrological diseases, Rare 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 25
Umod-Associated Kidney Disease 25 30
Adtkd-Umod 25 60
Umod-Related Autosomal Dominant Tubulointerstitial Kidney Disease 60
Autosomal Dominant Medullary Cystic Kidney Disease Type 2 60
Familial Juvenile Hyperuricemic Nephropathy 1 25
Medullary Cystic Kidney Disease Type 2 74
Medullary Cystic Kidney Disease 2 25
Uromodulin Kidney Disease 25
Familial Juvenile Gout 74
Umod-Related Adtkd 60
Mckd2 60

Characteristics:

GeneReviews:

25
Penetrance Penetrance appears to be complete, although some individuals (especially females) may not develop esrd until the sixth or seventh decade...

Classifications:

Orphanet: 60  
Rare renal diseases


External Ids:

ICD10 via Orphanet 35 Q61.5
Orphanet 60 ORPHA88950

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 autosomal dominant tubulointerstitial kidney disease due to umod mutations. 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,...

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 30

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

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

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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