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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Benign recurrent intrahepatic cholestasis 1


Other Names for this Disease

  • BRIC1
  • Cholestasis, benign recurrent intrahepatic 1
  • Recurrent familial intrahepatic cholestasis 1
  • Summerskill syndrome
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Symptoms

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What are the symptoms of benign recurrent intrahepatic cholestasis 1 (BRIC1)?

Most people with BRIC1 have their first episode of cholestasis in their teens or twenties. Symptoms often present with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. Other general signs and symptoms that occur during these episodes include a vague feeling of discomfort, irritability, nausea, vomiting, and a lack of appetite. A common feature of BRIC1 is the reduced absorption of fat in the body, which leads to excess fat in the feces (steatorrhea). Because of a lack of fat absorption and loss of appetite, affected individuals often lose weight during episodes of cholestasis.[1]
Last updated: 1/14/2013

The Human Phenotype Ontology provides the following list of signs and symptoms for Benign recurrent intrahepatic cholestasis 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Autosomal recessive inheritance -
Biliary cirrhosis -
Conjugated hyperbilirubinemia -
Hepatomegaly -
Intermittent jaundice -
Intrahepatic cholestasis -
Pancreatitis -
Pruritus -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Benign recurrent intrahepatic cholestasis. Genetics Home Reference (GHR). April 2012; http://ghr.nlm.nih.gov/condition/benign-recurrent-intrahepatic-cholestasis. Accessed 1/14/2013.


Other Names for this Disease
  • BRIC1
  • Cholestasis, benign recurrent intrahepatic 1
  • Recurrent familial intrahepatic cholestasis 1
  • Summerskill syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.