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Progressive familial intrahepatic cholestasis (PFIC) is a group of familial cholestatic conditions caused by defects in biliary epithelial transporters. The clinical presentation usually occurs first in childhood with progressive cholestasis. This usually leads to failure to thrive, cirrhosis, and the need for liver transplantation. [citation ...
ABCB11 is a gene associated with progressive familial intrahepatic cholestasis type 2 (PFIC2). [5] [11] [12] [13] PFIC2 caused by mutations in the ABCB11 gene increases the risk of hepatocellular carcinoma in early life. [14] Benign recurrent intrahepatic cholestasis (BRIC) is associated with episodic cholestatic jaundice and mutations in ...
Familial intrahepatic cholestasis (FIH) is a group of disorders that lead to intrahepatic cholestasis in children. [47] Most often, FIH occurs during the first year of life, with an incidence rate of 1/50,000 to 1/100,000. [ 48 ]
Progressive familial intrahepatic cholestasis, a disease This page was last edited on 19 May 2023, at 21:31 (UTC). Text is available under the Creative Commons ...
Odevixibat, sold under the brand name Bylvay among others, is a medication for the treatment of progressive familial intrahepatic cholestasis. [5] [9] It is taken by mouth. [5] Odevixibat is a reversible, potent, selective inhibitor of the ileal bile acid transporter (IBAT). [9] [10] [11] It was developed by Albireo Pharma. [12]
[5] [6] [7] ABCB4 is associated with progressive familial intrahepatic cholestasis type 3 and intrahepatic cholestasis of pregnancy. The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes.
5205 54670 Ensembl ENSG00000081923 ENSMUSG00000039529 UniProt O43520 Q148W0 RefSeq (mRNA) NM_005603 NM_001374385 NM_001374386 NM_001001488 RefSeq (protein) NP_005594 NP_001001488 Location (UCSC) Chr 18: 57.65 – 57.8 Mb Chr 18: 64.66 – 64.79 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Probable phospholipid-transporting ATPase IC is an enzyme that in humans is encoded by the ...
The differential diagnoses are extensive and include: Alagille syndrome, alpha-1-antitrypsin deficiency, Byler disease (progressive familial intrahepatic cholestasis), Caroli disease, choledochal cyst, cholestasis, congenital cytomegalovirus disease, congenital herpes simplex virus infection, congenital rubella, congenital syphilis, congenital ...