|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in hepatocyte nuclear factor 1β (HNF1β) cause autosomal dominant tubulointerstitial kidney disease (ADTKD-HNF1β), and patients tend to develop renal cysts, maturity-onset diabetes of the young (MODY), and suffer from electrolyte disturbances, including hypomagnesemia, hypokalemia, and hypocalciuria.
|
29561186 |
2018 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the HNF1B gene have been shown to cause renal malformations, hypomagnesemia, and MODY.
|
24204001 |
2014 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding hepatocyte nuclear factor (HNF)1beta result in maturity-onset diabetes of the young-(MODY)5, by impairing insulin secretory responses and, possibly, by reducing beta-cell mass.
|
16837621 |
2006 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene encoding the hepatocyte nuclear factor (HNF)-1beta are associated with a subtype of maturity-onset diabetes of the young (MODY 5) characterized by urogenital abnormalities.
|
14583183 |
2004 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the genes encoding transcriptional regulators HNF1beta (TCF2), HNF1alpha (TCF1), and HNF4alpha cause autosomal dominant diabetes (also known as maturity-onset diabetes of the young).
|
17923767 |
2007 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the hepatocyte nuclear factor (HNF)-1beta gene (TCF2) are responsible for a syndrome characterized by maturity-onset diabetes of the young, a nondiabetic renal disease, genital malformations, and liver dysfunction.
|
12148114 |
2002 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the hepatocyte nuclear factor 1-alpha (HNF1A), glucokinase, hepatocyte nuclear factor 4-alpha, and hepatocyte nuclear factor 1-beta genes are the mutations most frequently observed in cases of MODY.
|
31098941 |
2019 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in the homeobox gene vHnf1 are associated with human diseases MODY5 (maturity-onset diabetes of the young, type V) and familial GCKD (glomerulocystic kidney disease).
|
11731484 |
2001 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the homeodomain-containing transcription factor hepatocyte nuclear factor (HNF)-1beta are the cause of one form of maturity-onset diabetes of the young (MODY), type 5 (MODY5).
|
10484768 |
1999 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in the human genes encoding the tissue-specific transcription factors hepatocyte nuclear factor (HNF)1alpha, HNF1beta and HNF4alpha are responsible for maturity onset diabetes of the young (MODY), a monogenic dominant inherited form of diabetes mellitus characterized by defective insulin secretion of the pancreatic beta-cells.
|
11463573 |
2001 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Promoter-specific repression of hepatocyte nuclear factor (HNF)-1 beta and HNF-1 alpha transcriptional activity by an HNF-1 beta missense mutant associated with Type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations.
|
15001636 |
2004 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These clinical characteristics, in spite of the absence of a family history of diabetes, prompted us to make the diagnosis of maturity-onset diabetes of the young 5 (MODY 5).
|
31391355 |
2019 |
|
Maturity onset diabetes mellitus in young
|
0.500 |
Biomarker
|
disease |
BEFREE |
To date, mutations in genes of five proteins have been shown to cause MODY: glucokinase (MODY2), hepatic nuclear factor-1 alpha (HNF-1 alpha) (MODY3), hepatic nuclear factor-4 alpha (HNF-4 alpha) (MODY1), insulin promoter factor 1 (IPF-1) (MODY4) and hepatic nuclear factor-1 beta (HNF-1 beta) (MODY5), but other MODY genes still await elucidation.
|
10417964 |
1999 |