RSC1A1, regulator of solute carriers 1, 6248

N. diseases: 14; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028754
Disease: Obesity
Obesity
0.200 Biomarker disease MGD Mice without the regulator gene Rsc1A1 exhibit increased Na+-D-glucose cotransport in small intestine and develop obesity. 15601832 2005
CUI: C0019212
Disease: Hepatorenal Syndrome
Hepatorenal Syndrome
0.050 GeneticVariation disease BEFREE Hepatorenal syndrome type 1 (HRS-1), which is a specific type of AKI that occurs in the context of advanced cirrhosis and portal hypertension, is associated with particularly high mortality. 31723234 2020
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.050 Biomarker disease BEFREE Moreover, histological evidence of morphological abnormalities in the kidneys of patients with cirrhosis and renal dysfunction has prompted the functional nature of HRS-1 to be re-examined. 31723234 2020
CUI: C0019212
Disease: Hepatorenal Syndrome
Hepatorenal Syndrome
0.050 GeneticVariation disease BEFREE Hepatorenal syndrome type 1 (HRS-1), a form of acute kidney injury (AKI) in cirrhosis, has a median survival of days to weeks if untreated. 30887050 2019
CUI: C0019212
Disease: Hepatorenal Syndrome
Hepatorenal Syndrome
0.050 Biomarker disease BEFREE Hepatorenal syndrome (HRS) has been defined as a purely "functional" type of renal failure that often occurs in patients with cirrhosis in the setting of marked abnormalities in arterial circulation, as well as overactivity of the endogenous vasoactive systems.<sup>4,5</sup> In 2007, the International Club of Ascites (ICA) classified HRS into types 1 and 2 (HRS-1 and HRS-2).<sup>5</sup> HRS-1 is characterised by a rapid deterioration of renal function that often occurs because of a precipitating event, while HRS-2 is a moderate and stable or slowly progressive renal dysfunction that often occurs without an obvious precipitant. 31302175 2019
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.050 Biomarker disease BEFREE A pilot observational study was conducted to determine the clinical utility of POCE-based examination of inferior vena cava diameter (IVCD) and collapsibility index (IVCCI) to assess intravascular volume status in patients with cirrhosis and AKI who had been deemed adequately volume-repleted and thereby assigned a clinical diagnosis of HRS-1. 31394538 2019
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.050 GeneticVariation disease BEFREE Hepatorenal syndrome type 1 (HRS-1), a form of acute kidney injury (AKI) in cirrhosis, has a median survival of days to weeks if untreated. 30887050 2019
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.050 Biomarker disease BEFREE Hepatorenal syndrome (HRS) has been defined as a purely "functional" type of renal failure that often occurs in patients with cirrhosis in the setting of marked abnormalities in arterial circulation, as well as overactivity of the endogenous vasoactive systems.<sup>4,5</sup> In 2007, the International Club of Ascites (ICA) classified HRS into types 1 and 2 (HRS-1 and HRS-2).<sup>5</sup> HRS-1 is characterised by a rapid deterioration of renal function that often occurs because of a precipitating event, while HRS-2 is a moderate and stable or slowly progressive renal dysfunction that often occurs without an obvious precipitant. 31302175 2019
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
0.050 Biomarker disease BEFREE HRS is divided into HRS I, which is rapidly progressive and mostly seen in patients with decompensated liver cirrhosis, and HRS II, which progresses more slowly and is always accompanied by gross ascites. 30474439 2019
CUI: C0019212
Disease: Hepatorenal Syndrome
Hepatorenal Syndrome
0.050 GeneticVariation disease BEFREE Hepatorenal syndrome type 1 (HRS1) is a functional, rapidly progressive, potentially reversible form of acute kidney injury occurring in patients with cirrhosis. 28052382 2017
CUI: C0019212
Disease: Hepatorenal Syndrome
Hepatorenal Syndrome
0.050 Biomarker disease BEFREE We evaluated the effect of SIRS on the response of hepatorenal syndrome type 1 (HRS-1) to terlipressin. 27464593 2017
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute
0.040 GeneticVariation disease BEFREE However, new insights suggest that non-haemodynamic tubulo-toxic factors, such as endotoxins and bile acids, might mediate parenchymal renal injury in patients with cirrhosis, suggesting that concurrent mechanisms, including those traditionally associated with HRS-1 and non-traditional factors, might contribute to the development of AKI in patients with cirrhosis. 31723234 2020
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
0.040 Biomarker disease BEFREE Moreover, histological evidence of morphological abnormalities in the kidneys of patients with cirrhosis and renal dysfunction has prompted the functional nature of HRS-1 to be re-examined. 31723234 2020
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute
0.040 Biomarker disease BEFREE A reduction in AKI stage, independent of HRS reversal, was sufficient to improve overall survival in patients with HRS-1. 30887050 2019
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute
0.040 Biomarker disease BEFREE A pilot observational study was conducted to determine the clinical utility of POCE-based examination of inferior vena cava diameter (IVCD) and collapsibility index (IVCCI) to assess intravascular volume status in patients with cirrhosis and AKI who had been deemed adequately volume-repleted and thereby assigned a clinical diagnosis of HRS-1. 31394538 2019
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute
0.040 Biomarker disease BEFREE In particular, the definitions and characterisation of acute kidney injury (AKI), acute kidney disease and chronic kidney disease have been introduced/refined.<sup>6</sup> Accordingly, a debate among hepatologists of the ICA led to a complete revision of the nomenclature and diagnosistic criteria for HRS-1, which was renamed HRS-AKI.<sup>7</sup> Additionally, over recent years, greater granularity has been gained regarding the pathogenesis of HRS; it is now increasingly recognised that it is not a purely "functional" entity with haemodynamic derangements, but that systemic inflammation, oxidative stress and bile salt-related tubular damage may contribute significantly to its development. 31302175 2019
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
0.040 Biomarker disease BEFREE A pilot observational study was conducted to determine the clinical utility of POCE-based examination of inferior vena cava diameter (IVCD) and collapsibility index (IVCCI) to assess intravascular volume status in patients with cirrhosis and AKI who had been deemed adequately volume-repleted and thereby assigned a clinical diagnosis of HRS-1. 31394538 2019
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
0.040 GeneticVariation disease BEFREE Hepatorenal syndrome type 1 (HRS-1), a form of acute kidney injury (AKI) in cirrhosis, has a median survival of days to weeks if untreated. 30887050 2019
CUI: C1623038
Disease: Cirrhosis
Cirrhosis
0.040 Biomarker disease BEFREE Hepatorenal syndrome (HRS) has been defined as a purely "functional" type of renal failure that often occurs in patients with cirrhosis in the setting of marked abnormalities in arterial circulation, as well as overactivity of the endogenous vasoactive systems.<sup>4,5</sup> In 2007, the International Club of Ascites (ICA) classified HRS into types 1 and 2 (HRS-1 and HRS-2).<sup>5</sup> HRS-1 is characterised by a rapid deterioration of renal function that often occurs because of a precipitating event, while HRS-2 is a moderate and stable or slowly progressive renal dysfunction that often occurs without an obvious precipitant. 31302175 2019
Dentatorubral-Pallidoluysian Atrophy
0.020 Biomarker disease BEFREE HRS is divided into HRS I, which is rapidly progressive and mostly seen in patients with decompensated liver cirrhosis, and HRS II, which progresses more slowly and is always accompanied by gross ascites. 30474439 2019
Dentatorubral-Pallidoluysian Atrophy
0.020 Biomarker disease BEFREE Because classification, nomenclature, diagnostic criteria and pathogenic theories have evolved over the years since the traditional classification of HRS-1 and HRS-2 was first described, it was considered that all these novel aspects be reviewed and summarised in a position paper. 31302175 2019
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked
0.020 Biomarker disease BEFREE These results support the use of rAAV2tYF-CB-hRS1 in clinical studies in patients with XLRS. 26390090 2015
CUI: C0271091
Disease: Retinoschisis, Juvenile, X-Linked
Retinoschisis, Juvenile, X-Linked
0.020 Biomarker disease BEFREE These results support the use of rAAV2tYF-CB-hRS1 in clinical studies in patients with XLRS. 26390091 2015
CUI: C0020541
Disease: Portal Hypertension
Portal Hypertension
0.010 Biomarker disease BEFREE Hepatorenal syndrome type 1 (HRS-1), which is a specific type of AKI that occurs in the context of advanced cirrhosis and portal hypertension, is associated with particularly high mortality. 31723234 2020
CUI: C1263666
Disease: Advanced cirrhosis
Advanced cirrhosis
0.010 Biomarker disease BEFREE Hepatorenal syndrome type 1 (HRS-1), which is a specific type of AKI that occurs in the context of advanced cirrhosis and portal hypertension, is associated with particularly high mortality. 31723234 2020