PFIC Network, Inc.

Cycle 2
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Progressive Familial Intrahepatic Cholestasis (PFIC) is a general term that represents a group of rare genetic (inherited) disorders that cause increasingly severe liver disease and can lead to cirrhosis and end-stage liver disease. There are over six different types of PFIC. While the different types of PFIC have overlapping symptoms, each one is unique and can differ in disease presentation and prognosis. Often the hallmark feature of this disorder is severe and debilitating pruritus (itching). The disease typically presents in infancy or early childhood.

Last updated 04/30/2025

Clinical
Disease Class
Genetic diseases
Hepatic diseases
Body Systems
Digestive
Integumentary / Exocrine
Metabolic
Organs
Bowel
Liver
Known Genetic Link
Yes, one or more genes directly cause the condition
causative_genes
ABCB11
ABCB4
ATP8B1
KIF12
MYO5B
NR1H4
SEMA7A
SLC51A
TJP2
USP53
VPS33B
ZFYVE19
contributory_genes
None specified / unknown
Type of Inheritance
Autosomal recessive
Newborn Screening
No
Disease Mechanism(s)
Abnormal protein degradation
Inherited metabolic disorder
Pathogenic mutation
Protein misfolding
Transport defect
Age of Onset
Adolescence (12-17)
Adulthood (age 18-64)
Early childhood (age 1+-5)
Infancy (age 0-1)
Middle childhood (6-11)
Average Age at Diagnosis
Early childhood (age 1+-5)
Infancy (age 0-1)
Life Expectancy
Adolescence (12-17)
Adulthood (age 18-64)
Early childhood (age 1+-5)
Infancy (age 0-1)
Middle childhood (6-11)
Affected Sex(es)
Female
Male
National Prevalence
1001-10000
Global Prevalence
1001-10000
National Incidence
Less than 10
Global Incidence
Less than 10
Populations and/or ancestry with higher prevalence
Amish community, regions with high consanguinity, Middle East.
Symptoms / Phenotypes
cancer / carcinoma / tumor / malignancy, unspecified
diarrhea
enlarged liver / hepatomegaly
failure to thrive
gallstones / cholelithiasis
hearing loss / hearing impairment
jaundice
liver disease
pancreatitis
pruritus / itching
teeth discoloration
vitamin deficiency
Biomarkers
Therapeutic
· Bile Salts
Existing Therapies
FDA-Approved for Symptom Relief
· maralixibat, odevixibat
Off-Label Drug Use
Organizational & Research
Cell Lines
None
Cell Lines, Institution
None
Cell Lines, share
N/A
Disease Model
None
Disease Model, share
N/A
Clinical Trial Role
Meeting with regulators
Recruitment and outreach, patients
Biobank, Institution
None
Center of Excellence, Institution
None
Registry
Yes, we have a registry that we created
Data Collected, Registry
Longitudinal natural history data
Medication usage
Patient contact info
Patient-reported data
Data Entered by, Registry
Patients
Platform, Registry
REDCap
Natural History Study
No, we do not have a natural history study and have no plans to create or collaborate on one
FDA Patient Listening Session
Yes
FDA Patient-Focused Drug Development (PFDD) Program
No
ICD Codes
Yes, we have an ICD-11 code specific to our exact disease
Diagnostic Guidelines
No
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Does not have a CRN
Research Roadmap
We don't have a Research Roadmap
International Chapters
Asia
Europe
North America
Oceania
International Partners
Europe