Comprehensive, easy-to-understand information about this condition
How we create this content →Inheritance patterns describe how genetic conditions are passed from parents to children.
Inheritance patterns describe how genetic conditions are passed from parents to children.
The documentation surrounding benign recurrent intrahepatic cholestasis type 2 is limited due to its rarity and the recent identification of its genetic basis. Conditions like BRIC2 affect a small number of individuals worldwide, which restricts the scope of systematic clinical studies. Additionally, the phenotypic variability and overlap with other cholestatic disorders complicate the characterization of this condition.
The primary clinical feature of BRIC2 is intrahepatic cholestasis, which occurs in approximately 5-29% of affected individuals. Patients may experience recurrent episodes of jaundice, itching, and discomfort due to bile accumulation in the liver. These symptoms can vary in frequency and severity, and patients may have periods of normal liver function between episodes.
To navigate your care effectively, consider consulting a hepatologist with expertise in cholestatic liver diseases. Genetic counseling may also be beneficial, as it can provide insights into the implications of ABCB11 gene variants for you and your family. While there are currently no known patient organizations specifically for BRIC2, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer support and information. Additionally, inquire about participation in clinical trials to contribute to the understanding of this condition.
Currently, there is one active clinical trial investigating benign recurrent intrahepatic cholestasis type 2. This trial may offer insights into the management and treatment of the condition. For more information on participation, you can search for ongoing studies at ClinicalTrials.gov using the following link: https://clinicaltrials.gov/search?cond=benign%20recurrent%20intrahepatic%20cholestasis%20type%202.
Actionable guidance for navigating care for benign recurrent intrahepatic cholestasis type 2
To navigate your care effectively, consider consulting a hepatologist with expertise in cholestatic liver diseases. Genetic counseling may also be beneficial, as it can provide insights into the implications of ABCB11 gene variants for you and your family. While there are currently no known patient organizations specifically for BRIC2, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer support and information. Additionally, inquire about participation in clinical trials to contribute to the understanding of this condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 7, 2026
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
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