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GTR Home > Conditions/Phenotypes > Benign recurrent intrahepatic cholestasis type 1

Benign recurrent intrahepatic cholestasis type 1

Synonyms
Recurrent familial intrahepatic cholestasis 1; Summerskill syndrome

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

35 tests are in the database for this condition.

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Clinical tests (35 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ATPIC, BRIC, FIC1, ICP1, PFIC, PFIC1, ATP8B1
    Summary: ATPase phospholipid transporting 8B1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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