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Progressive familial intrahepatic cholestasis type 2

Summary

Excerpted from the GeneReview: ATP8B1 Deficiency
The phenotypic spectrum of ATP8B1 deficiency ranges from severe through moderate to mild. Severe ATP8B1 deficiency is characterized by infantile-onset cholestasis that progresses to cirrhosis, hepatic failure, and early death. Although mild-to-moderate ATP8B1 deficiency initially was thought to involve intermittent symptomatic cholestasis with a lack of hepatic fibrosis, it is now known that hepatic fibrosis may be present early in the disease course. Furthermore, in some persons with ATP8B1 deficiency the clinical findings can span the phenotypic spectrum, shifting over time from the mild end of the spectrum (episodic cholestasis) to the severe end of the spectrum (persistent cholestasis). Sensorineural hearing loss (SNHL) is common across the phenotypic spectrum.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Laura N Bull
Raffaella Morotti
James E Squires
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Available tests

57 tests are in the database for this condition.

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Clinical tests (57 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABC16, BRIC2, BSEP, PFIC-2, PFIC2, PGY4, SPGP, ABCB11
    Summary: ATP binding cassette subfamily B member 11

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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