MCKD1
MCID: ATS310
MIFTS: 21

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

Categories: Blood diseases, Endocrine diseases, Fetal diseases, 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 71
Medullary Cystic Kidney Disease Type I 71
Medullary Cystic Kidney Disease 1 71
Adtkd-Muc1 24
Mckd1 24

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:

UMLS 71 C1868139 C2919861 C4054549

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 medullary cystic kidney disease 1 and medullary cystic kidney disease 2. An important gene associated with Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related is MUC1 (Mucin 1, Cell Surface Associated). The drugs Ergocalciferol and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include kidney and testes.

GeneReviews: NBK153723

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

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,...

Drugs for Autosomal Dominant Tubulointerstitial Kidney Disease, Muc1-Related (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ergocalciferol Approved, Nutraceutical Early Phase 1 50-14-6 5280793
2
Vitamin D Approved, Nutraceutical, Vet_approved Early Phase 1 1406-16-2
3
Vitamin D3 Approved, Nutraceutical Early Phase 1 67-97-0 6221 5280795
4
Calcium Approved, Nutraceutical Early Phase 1 7440-70-2 271
5 Micronutrients Early Phase 1
6 Vitamins Early Phase 1
7 Trace Elements Early Phase 1
8 Nutrients Early Phase 1
9 Ergocalciferols Early Phase 1
10 Vitamin D2 Early Phase 1
11 Calcium, Dietary Early Phase 1
12 Calciferol Early Phase 1
13 Hormones Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of the Effect of Ergocalciferol on Plasma and Urinary Mucin-1 Levels in Healthy Individuals and Individuals With Autosomal Dominant Tubulo-Interstitial Kidney Disease Due to MUC1 Mutations (ADTKD-MUC1) Recruiting NCT03747523 Early Phase 1 Ergocalciferol

Search 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:

40
Kidney, Testes

Publications for Autosomal Dominant Tubulointerstitial Kidney Disease,...

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

(show all 27)
# Title Authors PMID Year
1
Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1. 61 24
24509297 2014
2
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. 61 24
23396133 2013
3
Medullary cystic kidney disease type 1 in a large Native-American kindred. 61 24
15384011 2004
4
Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. 61 24
12234310 2002
5
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. 24
25738250 2015
6
Nephronophthisis. 24
20652329 2011
7
Hereditary interstitial kidney disease. 24
20807609 2010
8
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. 24
19664745 2009
9
Lithiasis in cystic kidney disease and malformations of the urinary tract. 24
16416113 2006
10
Cosegregation of bipolar disorder and autosomal-dominant medullary cystic kidney disease in a large family. 24
16199849 2005
11
The nephronophthisis complex: clinical and genetic aspects. 24
1450635 1992
12
Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation. 61
29217307 2018
13
Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein. 61
29156055 2017
14
Novel roles for mucin 1 in the kidney. 61
28622163 2017
15
Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease. 61
27157321 2016
16
Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease. 61
26943180 2016
17
A case of sporadic medullary cystic kidney disease type 1 (MCKD1) with kidney enlargement complicated by IgA nephropathy. 61
25818408 2015
18
Autosomal Dominant Tubulointerstitial Kidney Disease, MUC1-Related 61
23946964 2013
19
Renal graft outcome in autosomal dominant medullary cystic kidney disease type 1. 61
23475468 2013
20
Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing. 61
16738948 2006
21
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. 61
16164624 2005
22
Telomeric refinement of the MCKD1 locus on chromosome 1q21. 61
15253709 2004
23
The quest for the gene responsible for medullary cystic kidney disease type 1. 61
15253745 2004
24
Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. 61
15086896 2004
25
Outcome of kidney transplantation in autosomal dominant medullary cystic kidney disease type 1. 61
13679497 2003
26
Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing. 61
12911527 2003
27
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. 61
11401443 2001

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,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....