ATP8B1, ATPase phospholipid transporting 8B1, 5205

N. diseases: 70; N. variants: 38
Disease: Benign recurrent intrahepatic cholestasis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0149841
Disease: Benign recurrent intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis 		0.100 GeneticVariation disease BEFREE Mutation of ATP8B1 cause progressive familial Intrahepatic Cholestasis type 1 (PFIC1)and benign recurrent intrahepatic cholestasis type 1 (BRIC 1). 26045263 2015
CUI: C0149841
Disease: Benign recurrent intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis 		0.100 Biomarker disease BEFREE Deficiency of the phospholipid flippase ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1) causes progressive familial intrahepatic cholestasis type 1 (PFIC1) and benign recurrent intrahepatic cholestasis type 1 (BRIC1). 25239307 2014
CUI: C0149841
Disease: Benign recurrent intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis 		0.100 GeneticVariation disease BEFREE Benign recurrent intrahepatic cholestasis type 1 (BRIC-1), a rare autosomal recessive disorder characterized by recurrent episodes of jaundice and pruritus, is caused by mutations in the ATP8B1 gene. 22525741 2012
CUI: C0149841
Disease: Benign recurrent intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis 		0.100 GeneticVariation disease BEFREE Mutations in ABCB4 can result in progressive cholestatic disease, while mutations in ATP8B1 and ABCB11 can result both in episodic cholestasis, referred to as benign recurrent intrahepatic cholestasis (BRIC) type 1 and 2, as well as in progressive cholestatic disease. 20955958 2010
CUI: C0149841
Disease: Benign recurrent intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis 		0.100 GeneticVariation disease BEFREE Mutations in ATP8B1 also cause benign recurrent intrahepatic cholestasis, a milder variant of the disease characterized by episodes of cholestasis. 20422494 2010
CUI: C0149841
Disease: Benign recurrent intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis 		0.100 GeneticVariation disease BEFREE Mutations in ATP8B1 (FIC1) underlie cases of cholestatic disease, ranging from chronic and progressive (progressive familial intrahepatic cholestasis) to intermittent (benign recurrent intrahepatic cholestasis). 20126555 2010
CUI: C0149841
Disease: Benign recurrent intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis 		0.100 GeneticVariation disease BEFREE Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1. 19731236 2009
CUI: C0149841
Disease: Benign recurrent intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis 		0.100 GeneticVariation disease BEFREE Homozygous mutations in the ATP8B1 gene cause cholestasis with a normal serum gamma-glutamyl transpeptidase (gamma-GT), and have been reported in two forms of cholestasis: progressive familial intrahepatic cholestasis type 1 (PFIC1) and benign recurrent intrahepatic cholestasis (BRIC). 15888793 2005
CUI: C0149841
Disease: Benign recurrent intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis 		0.100 GeneticVariation disease BEFREE We report the genomic organization of ATP8B1 and mutation analyses of 180 families with PFIC or BRIC that identified 54 distinct disease mutations, including 10 mutations predicted to disrupt splicing, 6 nonsense mutations, 11 small insertion or deletion mutations predicted to induce frameshifts, 1 large genomic deletion, 2 small inframe deletions, and 24 missense mutations. 15239083 2004
CUI: C0149841
Disease: Benign recurrent intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis 		0.100 Biomarker disease BEFREE In contrast, cholelithiasis was observed in 7 of 11 BRIC patients with mutations in ABCB11, but has not been described in ATP8B1-affected BRIC patients. 15300568 2004
CUI: C0149841
Disease: Benign recurrent intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis 		0.100 Biomarker disease BEFREE FIC1 (familial intrahepatic cholestasis 1) is affected in two clinically distinct forms of hereditary cholestasis, namely progressive familial intrahepatic cholestasis type 1 (PFIC1) and benign recurrent intrahepatic cholestasis. 11682026 2001
CUI: C0149841
Disease: Benign recurrent intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis 		0.100 GeneticVariation disease BEFREE Recurrent intrahepatic cholestasis (previously benign recurrent cholestasis), is also linked to specific mutations in the FIC1 gene. 10975791 2000
CUI: C0149841
Disease: Benign recurrent intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis 		0.100 GeneticVariation disease BEFREE We investigated the possibility that Greenland familial cholestasis is caused by a mutation in FIC1, the gene defective in patients with progressive familial intrahepatic cholestasis type 1 and many cases of benign recurrent intrahepatic cholestasis. 11093741 2000
CUI: C0149841
Disease: Benign recurrent intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis 		0.100 GeneticVariation disease BEFREE Moreover, we identified one family in which the BRIC gene seems to be unlinked to the 18q21 region, or that represents incomplete penetrance of the BRIC genotype. 9272159 1997