MUC1, mucin 1, cell surface associated, 4582

N. diseases: 594; N. variants: 18
Disease: Medullary cystic disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 GeneticVariation disease BEFREE Genetic Testing of the mucin 1 gene-Variable Number Tandem Repeat Single Cytosine Insertion Mutation in a Chinese Family with Medullary Cystic Kidney Disease. 29052568 2017
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 GeneticVariation disease BEFREE A frameshift mutation in MUC1 was recently identified as the genetic lesion causing medullary cystic kidney disease type 1, now appropriately renamed MUC1 Kidney Disease. 28622163 2017
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 Biomarker disease BEFREE Recently, mucin 1 (MUC1) was identified as a causal gene of medullary cystic kidney disease (ADTKD-MUC1). 29156055 2017
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 GeneticVariation disease BEFREE Medullary cystic kidney disease type 1 (MCKD1; OMIM #174000) is a familial progressive tubule-interstitial nephropathy belonging to the recently defined group of autosomal dominant tubulointerstitial kidney diseases (ADTKD). 26943180 2016
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 GeneticVariation disease BEFREE A case of sporadic medullary cystic kidney disease type 1 (MCKD1) with kidney enlargement complicated by IgA nephropathy. 25818408 2015
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 GeneticVariation disease BEFREE Multiple names have been proposed for these disorders, including 'Medullary Cystic Kidney Disease (MCKD) type 2', 'Familial Juvenile Hyperuricemic Nephropathy (FJHN)', or 'Uromodulin-Associated Kidney Disease (UAKD)' for UMOD-related diseases and 'MCKD type 1' for the disease caused by MUC1 mutations. 25738250 2015
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 GeneticVariation disease BEFREE Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1. 24509297 2014
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 GeneticVariation disease BEFREE We describe the illustrative case of the simple mendelian disorder medullary cystic kidney disease type 1 (MCKD1), mapped more than a decade ago to a 2-Mb region on chromosome 1. 23396133 2013
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 Biomarker disease BEFREE Medullary cystic kidney disease type 1 (MCKD1) is an autosomal dominant, tubulo-interstitial nephropathy that causes renal salt wasting and end-stage renal failure in the fourth to seventh decade of life.MCKD1 was localized to chromosome 1q21. 16738948 2006
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 Biomarker disease BEFREE Medullary cystic kidney disease/familial juvenile hyperuricemic nephropathy (MCKD/FJHN) are autosomal dominant renal disorders characterized by tubulo-interstitial fibrosis, hyperuricemia and medullary cysts. 17010121 2006
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 GeneticVariation disease BEFREE Autosomal-dominant juvenile hyperuricemia, gouty arthritis, medullary cysts, and progressive renal insufficiency are features associated with familial juvenile hyperuricemic nephropathy (FJHN), medullary cystic kidney disease type 1 (MCKD1) and type 2 (MCKD2). 16164624 2005
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 GeneticVariation disease BEFREE One family carrying no mutation in the UMOD gene showed no linkage to the medullary cystic kidney disease type 1 (MCKD1) locus, the genes of hepatocyte nuclear factor-1beta (HNF-1beta), or urate transporters URAT1 and hUAT. 15086896 2004
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 Biomarker disease BEFREE The disease complex medullary cystic disease/familial juvenile hyperuricemic nephropathy (MCKD/FJHN) is characterized by alteration of urinary concentrating ability, frequent hyperuricemia, tubulo-interstitial fibrosis, cysts at the cortico-medullary junction and renal failure. 14570709 2003
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 GeneticVariation disease BEFREE Autosomal-dominant medullary cystic kidney disease (ADMCKD), a hereditary chronic interstitial nephropathy, recently attracted attention because of the cloning or mapping of certain gene loci, namely NPHP1, NPHP2 and NPHP3 for familial juvenile nephronophthisis (NPH) and MCKD1 and MCKD2 for the adult form of medullary cystic kidney disease. 12234310 2002
CUI: C2939174
Disease: Medullary cystic disease
Medullary cystic disease 		0.100 GeneticVariation disease BEFREE This study locates the gene for ADMCKD1 close to a marker D1S1595 in a region <5 cM, and further confirms the existence of at least three loci for the medullary cystic kidney disease. 11576336 2001