Overview
MYO5B-related progressive familial intrahepatic cholestasis (also called PFIC type 6 or MYO5B-PFIC) is a rare inherited liver disease caused by changes in the MYO5B gene. This gene provides instructions for making a protein called myosin Vb, which helps move important proteins to the right places inside liver cells. When myosin Vb does not work properly, bile — a digestive fluid made by the liver — cannot flow out of liver cells normally. Bile then builds up inside the liver, causing damage over time. This condition belongs to a group of diseases called progressive familial intrahepatic cholestasis (PFIC). The disease usually appears in infancy or early childhood. The most noticeable symptom is intense, persistent itching caused by bile acids building up in the blood. Children may also develop yellowing of the skin and eyes (jaundice), poor growth, and liver scarring (cirrhosis) if untreated. Some children with MYO5B mutations also have a gut condition called microvillus inclusion disease (MVID), which causes severe watery diarrhea from birth. Treatment options include medications to improve bile flow, surgical procedures to divert bile away from the liver, and in severe cases, liver transplantation. Newer targeted medications are being studied and some have shown promise. Early diagnosis and treatment are important to slow liver damage and improve quality of life.
Also known as:
Key symptoms:
Severe, persistent itching all over the bodyYellowing of the skin and whites of the eyes (jaundice)Poor weight gain and slow growth in infants and childrenEnlarged liver and spleenPale or clay-colored stoolsDark urineFatigue and low energyLiver scarring (cirrhosis) over timeElevated liver enzymes on blood testsFat-soluble vitamin deficiencies (vitamins A, D, E, K)Bone thinning due to vitamin D and calcium problemsIn some cases, severe watery diarrhea from birth (if microvillus inclusion disease is also present)
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for MYO5B-related progressive familial intrahepatic cholestasis.
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Specialists
View all specialists →No specialists are currently listed for MYO5B-related progressive familial intrahepatic cholestasis.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to MYO5B-related progressive familial intrahepatic cholestasis.
Community
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Caregiver Resources
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What stage is my child's liver disease at right now, and how quickly might it progress?,Which treatments are most appropriate for my child's specific MYO5B mutation and symptoms?,Should we consider surgical bile diversion, and what are the risks and benefits?,At what point would you recommend evaluation for liver transplantation?,Does my child need to be tested for microvillus inclusion disease as well?,What vitamins and nutritional supplements does my child need, and how do we monitor them?,Are there any clinical trials for MYO5B-related PFIC that my child might be eligible for?
Common questions about MYO5B-related progressive familial intrahepatic cholestasis
What is MYO5B-related progressive familial intrahepatic cholestasis?
MYO5B-related progressive familial intrahepatic cholestasis (also called PFIC type 6 or MYO5B-PFIC) is a rare inherited liver disease caused by changes in the MYO5B gene. This gene provides instructions for making a protein called myosin Vb, which helps move important proteins to the right places inside liver cells. When myosin Vb does not work properly, bile — a digestive fluid made by the liver — cannot flow out of liver cells normally. Bile then builds up inside the liver, causing damage over time. This condition belongs to a group of diseases called progressive familial intrahepatic choles
How is MYO5B-related progressive familial intrahepatic cholestasis inherited?
MYO5B-related progressive familial intrahepatic cholestasis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does MYO5B-related progressive familial intrahepatic cholestasis typically begin?
Typical onset of MYO5B-related progressive familial intrahepatic cholestasis is infantile. Age of onset can vary across affected individuals.