Rare Hematology News

Disease Profile

Benign recurrent intrahepatic cholestasis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

All ages

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ICD-10

K83.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

BRIC; Summerskill-Walshe-Tygstrup syndrome

Summary

Benign recurrent intrahepatic cholestasis (BRIC) is a rare condition that affects the liver. People with this condition experience episodes of cholestasis, during which the liver cells have a reduced ability to release bile (a digestive fluid). Episodes generally begin in the late teens or early twenties and may be accompanied by jaundice, severe itchiness, a vague feeling of discomfort (malaise), irritability, nausea, vomiting, and a lack of appetite. There are two forms of BRIC which are classified based on the genetic cause of the condition. BRIC1 is caused by changes (mutations) in the ATP8B1 gene and BRIC2 is caused by mutations in the ABCB11 gene. Both follow an autosomal recessive pattern of inheritance.[1] Treatment of BRIC may include medications to manage symptoms and specialized therapies (i.e. nasobiliary drainage) to shorten episodes.[2][3]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Acholic stools
Clay colored stools
0011985
Anorexia
0002039
Cholestatic liver disease
0002611
Elevated hepatic transaminase
High liver enzymes
0002910
Fatigue
Tired
Tiredness

[ more ]

0012378
Jaundice
Yellow skin
Yellowing of the skin

[ more ]

0000952
Pruritus
Itching
Itchy skin
Skin itching

[ more ]

0000989
Weight loss
0001824
30%-79% of people have these symptoms
Nausea and vomiting
0002017
5%-29% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Cholelithiasis
Gallstones
0001081
Chronic diarrhea
0002028
Cirrhosis
Scar tissue replaces healthy tissue in the liver
0001394
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Hepatocellular carcinoma
0001402
Pancreatitis
Pancreatic inflammation
0001733

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • MedlinePlus Genetics contains information on Benign recurrent intrahepatic cholestasis. This website is maintained by the National Library of Medicine.
    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

        References

        1. Benign recurrent intrahepatic cholestasis. MedlinePlus Genetics. April 2012; https://ghr.nlm.nih.gov/condition/benign-recurrent-intrahepatic-cholestasis#.
        2. Low Gamma-GT Familial Intrahepatic Cholestasis. National Organization for Rare Disorders. 2011; https://rarediseases.org/rare-diseases/low-gamma-gt-familial-intrahepatic-cholestasis/.
        3. AS Knisely, MD, Laura N Bull, PhD, and Benjamin L Shneider, MD. ATP8B1 Deficiency. GeneReviews. March 2014; https://www.ncbi.nlm.nih.gov/books/NBK1297.