MCKD1
MCID: ATS310
MIFTS: 18

Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related (MCKD1)

Categories: Genetic diseases, Nephrological diseases, Rare diseases

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

MalaCards integrated aliases for Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related:

Name: Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related 24
Medullary Cystic Kidney Disease Type 1 24 53 25 73
Medullary Cystic Kidney Disease 1 53 73
Adtkd-Muc1 24 53
Mckd1 24 53
Autosomal Dominant Tubulointerstitial Kidney Disease Due to Muc1 Mutations 53
Muc1-Related Autosomal Dominant Tubulointerstitial Kidney Disease 53
Muc1-Related Autosomal Dominant Medullary Cystic Kidney Disease 53
Autosomal Dominant Medullary Cystic Kidney Disease 25
Autosomal Dominant Interstitial Kidney Disease 25
Kidney Disease, Cystic, Medullary, Type 1 40
Medullary Cystic Kidney Disease Type I 73
Polycystic Kidneys, Medullary Type 25
Adtkd Due to Muc1 Mutations 53
Mucin-1 Kidney Disease 53
Muci-Related Adtkd 53

Characteristics:

GeneReviews:

24
Penetrance Ckd occurs in all affected individuals; however, the age of onset of esrd ranges from age 20 years to older than 70 years...

Classifications:



External Ids:

Summaries for Autosomal Dominant Tubulointerstitial Kidney Disease,...

MalaCards based summary : Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related, also known as medullary cystic kidney disease type 1, is related to autosomal dominant tubulointerstitial kidney disease, umod-related and medullary cystic kidney disease 1. Affiliated tissues include kidney.

GeneReviews: NBK153723

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

Diseases related to Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant tubulointerstitial kidney disease, umod-related 11.6
2 medullary cystic kidney disease 1 11.6
3 autosomal dominant tubulointerstitial kidney disease 11.4
4 nephronophthisis 11.2
5 medullary cystic kidney disease 2 11.1
6 hyperuricemic nephropathy, familial juvenile, 1 10.3
7 cystic kidney disease 10.2
8 kidney disease 10.2
9 bipolar disorder 10.1
10 iga glomerulonephritis 10.0

Graphical network of the top 20 diseases related to Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related:



Diseases related to Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-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, Muc1-Related

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

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

MalaCards organs/tissues related to Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related:

41
Kidney

Publications for Autosomal Dominant Tubulointerstitial Kidney Disease,...

Articles related to Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related:

(show all 11)
# Title Authors Year
1
A case of sporadic medullary cystic kidney disease type 1 (MCKD1) with kidney enlargement complicated by IgA nephropathy. ( 25818408 )
2015
2
Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1. ( 24509297 )
2014
3
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. ( 23396133 )
2013
4
Renal graft outcome in autosomal dominant medullary cystic kidney disease type 1. ( 23475468 )
2013
5
Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing. ( 16738948 )
2006
6
Medullary cystic kidney disease type 1 in a large Native-American kindred. ( 15384011 )
2004
7
The quest for the gene responsible for medullary cystic kidney disease type 1. ( 15253745 )
2004
8
Outcome of kidney transplantation in autosomal dominant medullary cystic kidney disease type 1. ( 13679497 )
2003
9
Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. ( 12234310 )
2002
10
Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region. ( 11401443 )
2001
11
Medullary Cystic Kidney Disease Type 1 ( 23946964 )
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, Muc1-Related.

Pathways for Autosomal Dominant Tubulointerstitial Kidney Disease,...

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

Sources for Autosomal Dominant Tubulointerstitial Kidney Disease,...

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7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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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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