A rare, biliary tract disease characterized by progressive obliterative cholangiopathy of the intra- and extrahepatic bile ducts, occurring in the embryonic/ perinatal period, leading to severe and pe...
Comprehensive, easy-to-understand information about this condition
How we create this content →Documentation on biliary atresia is limited primarily due to its rarity, affecting fewer than 9 in 100,000 individuals. This low prevalence restricts the scope of systematic clinical studies, making comprehensive data collection challenging. Additionally, the lack of identified genetic factors and established inheritance patterns complicates the understanding of the disease, contributing to the documentation gaps.
The clinical features of biliary atresia predominantly include failure to thrive (80-99%), cholestasis (80-99%), and jaundice (80-99%). Other symptoms may include dark yellow urine (30-79%), atretic gallbladder (30-79%), acholic stools (30-79%), and elevated gamma-glutamyltransferase levels (30-79%). Decreased liver function and hepatomegaly are also common in affected infants. Early diagnosis and intervention are crucial for managing these symptoms effectively.
To navigate biliary atresia, it is essential to seek a pediatric gastroenterologist or hepatologist with experience in liver diseases in infants. These specialists can provide tailored management and support for your child's condition. Additionally, consider participating in clinical trials, which may offer access to new therapies. You can explore clinical trial opportunities at ClinicalTrials.gov. For further information on rare diseases, you can visit the Genetic and Rare Diseases Information Center at https://rarediseases.info.nih.gov.
Currently, there are two orphan drugs in development for biliary atresia: maralixibat and odevixibat. These drugs aim to address the underlying cholestatic symptoms of the disease. Additionally, there are 25 active clinical trials investigating various aspects of biliary atresia. For more details on ongoing trials, you can visit ClinicalTrials.gov at https://clinicaltrials.gov/search?cond=biliary%20atresia.
Actionable guidance for navigating care for biliary atresia
To navigate biliary atresia, it is essential to seek a pediatric gastroenterologist or hepatologist with experience in liver diseases in infants. These specialists can provide tailored management and support for your child's condition. Additionally, consider participating in clinical trials, which may offer access to new therapies. You can explore clinical trial opportunities at ClinicalTrials.gov. For further information on rare diseases, you can visit the Genetic and Rare Diseases Information Center at https://rarediseases.info.nih.gov.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation on biliary atresia is limited primarily due to its rarity, affecting fewer than 9 in 100,000 individuals. This low prevalence restricts the scope of systematic clinical studies, making comprehensive data collection challenging. Additionally, the lack of identified genetic factors and established inheritance patterns complicates the understanding of the disease, contributing to the documentation gaps.
The clinical features of biliary atresia predominantly include failure to thrive (80-99%), cholestasis (80-99%), and jaundice (80-99%). Other symptoms may include dark yellow urine (30-79%), atretic gallbladder (30-79%), acholic stools (30-79%), and elevated gamma-glutamyltransferase levels (30-79%). Decreased liver function and hepatomegaly are also common in affected infants. Early diagnosis and intervention are crucial for managing these symptoms effectively.
To navigate biliary atresia, it is essential to seek a pediatric gastroenterologist or hepatologist with experience in liver diseases in infants. These specialists can provide tailored management and support for your child's condition. Additionally, consider participating in clinical trials, which may offer access to new therapies. You can explore clinical trial opportunities at ClinicalTrials.gov. For further information on rare diseases, you can visit the Genetic and Rare Diseases Information Center at https://rarediseases.info.nih.gov.
Currently, there are two orphan drugs in development for biliary atresia: maralixibat and odevixibat. These drugs aim to address the underlying cholestatic symptoms of the disease. Additionally, there are 25 active clinical trials investigating various aspects of biliary atresia. For more details on ongoing trials, you can visit ClinicalTrials.gov at https://clinicaltrials.gov/search?cond=biliary%20atresia.
Actionable guidance for navigating care for biliary atresia
To navigate biliary atresia, it is essential to seek a pediatric gastroenterologist or hepatologist with experience in liver diseases in infants. These specialists can provide tailored management and support for your child's condition. Additionally, consider participating in clinical trials, which may offer access to new therapies. You can explore clinical trial opportunities at ClinicalTrials.gov. For further information on rare diseases, you can visit the Genetic and Rare Diseases Information Center at https://rarediseases.info.nih.gov.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation on biliary atresia is limited primarily due to its rarity, affecting fewer than 9 in 100,000 individuals. This low prevalence restricts the scope of systematic clinical studies, making comprehensive data collection challenging. Additionally, the lack of identified genetic factors and established inheritance patterns complicates the understanding of the disease, contributing to the documentation gaps.
The clinical features of biliary atresia predominantly include failure to thrive (80-99%), cholestasis (80-99%), and jaundice (80-99%). Other symptoms may include dark yellow urine (30-79%), atretic gallbladder (30-79%), acholic stools (30-79%), and elevated gamma-glutamyltransferase levels (30-79%). Decreased liver function and hepatomegaly are also common in affected infants. Early diagnosis and intervention are crucial for managing these symptoms effectively.
To navigate biliary atresia, it is essential to seek a pediatric gastroenterologist or hepatologist with experience in liver diseases in infants. These specialists can provide tailored management and support for your child's condition. Additionally, consider participating in clinical trials, which may offer access to new therapies. You can explore clinical trial opportunities at ClinicalTrials.gov. For further information on rare diseases, you can visit the Genetic and Rare Diseases Information Center at https://rarediseases.info.nih.gov.
Currently, there are two orphan drugs in development for biliary atresia: maralixibat and odevixibat. These drugs aim to address the underlying cholestatic symptoms of the disease. Additionally, there are 25 active clinical trials investigating various aspects of biliary atresia. For more details on ongoing trials, you can visit ClinicalTrials.gov at https://clinicaltrials.gov/search?cond=biliary%20atresia.
Actionable guidance for navigating care for biliary atresia
To navigate biliary atresia, it is essential to seek a pediatric gastroenterologist or hepatologist with experience in liver diseases in infants. These specialists can provide tailored management and support for your child's condition. Additionally, consider participating in clinical trials, which may offer access to new therapies. You can explore clinical trial opportunities at ClinicalTrials.gov. For further information on rare diseases, you can visit the Genetic and Rare Diseases Information Center at https://rarediseases.info.nih.gov.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 30, 2026
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.
Organizations with orphan designations or approved therapies for this disease