Comprehensive, easy-to-understand information about this condition
How we create this content →Documentation for PFIC11 is limited primarily because it is a rare condition, affecting a small number of individuals worldwide. The genetic basis was only recently identified, and ongoing clinical studies are necessary to fully characterize its phenotypic spectrum. This rarity hampers the availability of comprehensive clinical data.
Key clinical features of PFIC11 include elevated serum levels of alanine aminotransferase, aspartate aminotransferase, and bile acids, which are present in all affected individuals. These abnormalities suggest significant liver dysfunction, although specific symptoms and their frequency in the patient population require further investigation.
To navigate PFIC11, consider consulting a hepatologist with expertise in liver diseases, particularly those that are genetically driven. Genetic counseling is also recommended to discuss the implications of SEMA7A variants for family members. Although there are no identified patient organizations for PFIC11, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Participating in clinical trials may also be an option to explore.
Currently, there are no orphan drugs designated for PFIC11, but there is one active clinical trial investigating potential treatments. For more information on ongoing research, you can visit ClinicalTrials.gov and search for cholestasis, progressive familial intrahepatic, 11: https://clinicaltrials.gov/search?cond=cholestasis%2C%20progressive%20familial%20intrahepatic%2C%2011. Participation in clinical trials may provide access to new therapies and contribute to the understanding of this condition.
Actionable guidance for navigating care for cholestasis, progressive familial intrahepatic, 11
To navigate PFIC11, consider consulting a hepatologist with expertise in liver diseases, particularly those that are genetically driven. Genetic counseling is also recommended to discuss the implications of SEMA7A variants for family members. Although there are no identified patient organizations for PFIC11, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Participating in clinical trials may also be an option to explore.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation for PFIC11 is limited primarily because it is a rare condition, affecting a small number of individuals worldwide. The genetic basis was only recently identified, and ongoing clinical studies are necessary to fully characterize its phenotypic spectrum. This rarity hampers the availability of comprehensive clinical data.
Key clinical features of PFIC11 include elevated serum levels of alanine aminotransferase, aspartate aminotransferase, and bile acids, which are present in all affected individuals. These abnormalities suggest significant liver dysfunction, although specific symptoms and their frequency in the patient population require further investigation.
To navigate PFIC11, consider consulting a hepatologist with expertise in liver diseases, particularly those that are genetically driven. Genetic counseling is also recommended to discuss the implications of SEMA7A variants for family members. Although there are no identified patient organizations for PFIC11, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Participating in clinical trials may also be an option to explore.
Currently, there are no orphan drugs designated for PFIC11, but there is one active clinical trial investigating potential treatments. For more information on ongoing research, you can visit ClinicalTrials.gov and search for cholestasis, progressive familial intrahepatic, 11: https://clinicaltrials.gov/search?cond=cholestasis%2C%20progressive%20familial%20intrahepatic%2C%2011. Participation in clinical trials may provide access to new therapies and contribute to the understanding of this condition.
Actionable guidance for navigating care for cholestasis, progressive familial intrahepatic, 11
To navigate PFIC11, consider consulting a hepatologist with expertise in liver diseases, particularly those that are genetically driven. Genetic counseling is also recommended to discuss the implications of SEMA7A variants for family members. Although there are no identified patient organizations for PFIC11, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Participating in clinical trials may also be an option to explore.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation for PFIC11 is limited primarily because it is a rare condition, affecting a small number of individuals worldwide. The genetic basis was only recently identified, and ongoing clinical studies are necessary to fully characterize its phenotypic spectrum. This rarity hampers the availability of comprehensive clinical data.
Key clinical features of PFIC11 include elevated serum levels of alanine aminotransferase, aspartate aminotransferase, and bile acids, which are present in all affected individuals. These abnormalities suggest significant liver dysfunction, although specific symptoms and their frequency in the patient population require further investigation.
To navigate PFIC11, consider consulting a hepatologist with expertise in liver diseases, particularly those that are genetically driven. Genetic counseling is also recommended to discuss the implications of SEMA7A variants for family members. Although there are no identified patient organizations for PFIC11, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Participating in clinical trials may also be an option to explore.
Currently, there are no orphan drugs designated for PFIC11, but there is one active clinical trial investigating potential treatments. For more information on ongoing research, you can visit ClinicalTrials.gov and search for cholestasis, progressive familial intrahepatic, 11: https://clinicaltrials.gov/search?cond=cholestasis%2C%20progressive%20familial%20intrahepatic%2C%2011. Participation in clinical trials may provide access to new therapies and contribute to the understanding of this condition.
Actionable guidance for navigating care for cholestasis, progressive familial intrahepatic, 11
To navigate PFIC11, consider consulting a hepatologist with expertise in liver diseases, particularly those that are genetically driven. Genetic counseling is also recommended to discuss the implications of SEMA7A variants for family members. Although there are no identified patient organizations for PFIC11, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Participating in clinical trials may also be an option to explore.
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 8, 2026
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
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