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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Rotor syndrome


Other Names for this Disease
  • Hyperbilirubinemia, Rotor type
  • Rotor-type hyperbilirubinemia
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Symptoms

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What are the signs and symptoms of Rotor syndrome?

Jaundice, characterized by yellowing of the skin and/or whites of the eyes (conjunctival icterus), is usually the only symptom of Rotor syndrome. Jaundice usually begins shortly after birth or in childhood and may come and go.[1]
Last updated: 4/9/2015

The Human Phenotype Ontology provides the following list of signs and symptoms for Rotor syndrome. 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)
Abnormality of the liver 90%
Abdominal pain 7.5%
Abnormality of temperature regulation 7.5%
Abnormality of the gastric mucosa 7.5%
Abnormality of skin pigmentation -
Abnormality of the skeletal system -
Autosomal recessive inheritance -
Conjugated hyperbilirubinemia -
Jaundice -

Last updated: 4/1/2015

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. Milan Jirsa, AS Knisely, Alfred Schinkel, and Stanislav Kmoch. Rotor Syndrome. GeneReviews. December 13, 2012; http://www.ncbi.nlm.nih.gov/books/NBK114805/.


Other Names for this Disease
  • Hyperbilirubinemia, Rotor type
  • Rotor-type hyperbilirubinemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.