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57 Possible Causes for Episodic Intrahepatic Cholestasis

  • Progressive Familial Intrahepatic Cholestasis

    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[metabolomicscentre.nl] […] or PFIC2 PFIC2 – Presents as severe intrahepatic cholestasis in infancy BRIC2 – Presents as recurrent episodes of pruritus, steatorrhea, nausea, vomiting, anorexia, right[basicmedicalkey.com] Some patients with two pathogenic ABCB11 variants will develop a disease known as benign recurrent intrahepatic cholestasis, type 2.[sema4genomics.com]

  • Alagille Syndrome

    Mutations in the ATP8B1 gene cause autosomal recessive disorders: cholestasis, benign recurrent intrahepatic, 1 (BRIC1; MIM 243300) and cholestasis, progressive familial intrahepatic[ctgt.net] In 70% of cases, the causal gene is JAG 1, located in chromosome 20. 1 Clinically, it appears with intermittent episodes of cholestasis that start in the neonatal period and[revespcardiol.org] BRIC1 is characterized by intermittent episodes of cholestasis without extrahepatic bile duct obstruction.[ctgt.net]

  • Benign Recurrent Intrahepatic Cholestasis

    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[metabolomicscentre.nl] Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodes of liver dysfunction called cholestasis.[ghr.nlm.nih.gov] Common Name(s) Benign Recurrent Intrahepatic Cholestasis 1 Benign recurrent intrahepatic cholestasis is characterized by intermittent episodes of cholestasis without extrahepatic[diseaseinfosearch.org]

  • Bile Acid Synthesis Defect with Cholestasis and Malabsorption

    CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 Is also known as byler disease Related symptoms: Intrahepatic cholestasis with episodic jaundice Fat malabsorption[mendelian.co] cholestasis with episodic jaundice 10% Weight loss 10% Severe short stature 10% Intermittent jaundice 10% Hepatocellular carcinoma 10% Death in childhood 10% Chronic hepatic[mendelian.co] Conjugated hyperbilirubinemia Cirrhosis Pruritus SOURCES: ORPHANET OMIM More info about CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 Browse more diseases High[mendelian.co]

  • Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

    Most of them showed evidence of biliary obstruction or severe intrahepatic cholestasis.[gmj.ir] Findings of liver biopsy may include cholestasis with multinucleate giant cell change of hepatocytes, intrahepatic biliary hypoplasia and lipofuscin deposition [9].[gmj.ir] One infant developed acute liver failure at the age of 6 weeks during an episode of sepsis.[gmj.ir]

  • Neonatal Scleroderma

    cholestasis with episodic jaundice Gene Set From HPO Gene-Disease Associations genes associated with the intrahepatic cholestasis with episodic jaundice phenotype by mapping[amp.pharm.mssm.edu] Associations genes associated with the intermittent jaundice phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. intrahepatic[amp.pharm.mssm.edu]

  • Benign Recurrent Intrahepatic Cholestasis Type 1

    Benign recurrent intrahepatic cholestasis (BRIC) is a hepatic disease characterized by episodes of hepatic dysfunction (cholestasis).[ivami.com] Mutations in ATP8B1 also cause benign recurrent intrahepatic cholestasis, a milder variant of the disease characterized by episodes of cholestasis.[thieme-connect.com] 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[metabolomicscentre.nl]

  • Acute Fatty Liver of Pregnancy

    In two patients, pruritus started two and four weeks before AFLP, suggesting that an intrahepatic cholestasis of pregnancy preceded AFLP in those patients.[gut.bmj.com] Polydipsia (in nine episodes) and skin pruritus (in seven episodes) were unusual clinical findings.[gut.bmj.com]

  • Citrin Deficiency

    NYS Dept. of Health Instructions New York Exemption Form VIEW TESTS The two phenotypes of citrin deficiency are citrullinemia type II (CTLN2) and neonatal intrahepatic cholestasis[genedx.com] CTLN2 typically presents in adulthood with recurring neuropsychiatric symptoms associated with episodic hyperammonemia, including disorientation, irritability, delusions,[genedx.com]

  • Cholestasis

    ), cholangiography (showing normal intra- and extrahepatic bile ducts), liver histology (revealing intrahepatic cholestasis with normal liver structure) and immunohistochemical[orpha.net] A subgroup of women with cholestasis of pregnancy have a family history of benign recurrent intrahepatic cholestasis (BRIC), a rare autosomal recessive condition in which[academic.oup.com] Benign recurrent intrahepatic cholestasis is characterized by episodic jaundice and pruritus lasting for several weeks to months, with long symptom-free intervals.[clevelandclinicmeded.com]

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