Disease Information for Rotor syndrome

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Clinical Manifestations
Signs & Symptoms
Yellow skin discoloration
Abdominal Pain
Abdominal Pain in Children
Abdominal Pain in Infant/Newborn
Diffuse Abdominal Pain
Recurrent Abdominal Pain
Recurrent Abdominal Pain in Children
Choluria/Biliuria in Children
Choluria/Biluria/Bilirubin urine
Jaundice/Yellow skin and eyes
Yellow eyeballs/Scleral icterus
Dark urine
Fever
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Exacerbation/remission
Course/Mild illness
Demographics & Risk Factors
Travel, Geographic & Climate Related Factors
Residence/travel/Phillipines
Population Group
Child
Population/Pediatrics population
Family History
Family history/Liver disease
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Direct bilirubin inc/normal indirect (Lab)
Enzyme Assay plasma/tissue/fibroblast abnormal
Liver Functions Abnormal (Lab)
URINE Color Brown
Abnormal Lab Findings - Increased
Bilirubin, serum (Lab)
Coproporphyrin (Lab)
URINE Bilirubin
Diagnostic Test Results
Other Tests & Procedures
TEST/BSP retention Normal
Pathology
BX/Liver biopsy/Normal
PATH/Tissue biopsy/Enzyme assay abnormal
X-RAY With contrast
GBS/Normal visualization gallbladder (Xray)
Associated Diseases & Rule outs
Rule Outs
Dubin-Johnson Syndrome
Associated Disease & Complications
Bilirubinemia
Neonatal hyperbilirubinemia
Rotor syndrome
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Liver involvement/disorder (ex)
CLASS/Liver/gallbladder/ducts (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Episodic disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Inherited bilirubin metabolism disorder (ex)
Synonyms
Synonym
Hyperbilirubinaemia type I, HYPERBILIRUBINEMIA IDIOPATHIC, Hyperbilirubinemia type I, Rotor, Rotor syndrome, Rotor syndrome (disorder), Rotor's syndrome, Syndrome Rotor, Synonym/Hepatic Storage Disease (France), Synonym/Manahan Florentine Syndrome
Definition

Rotor is an autosomal recessive syndrome that presents with jaundice ,very familiar to Dubin Johnson disease . except having NO pigmentation in liver .---------

Also known as: Rotor’s type of bilirubinaemia, Rotor, Manahan and Florentin syndrome;

A rare idiopathic form of hyperbilirubinaemia affecting both sexes, with onset shortly after birth or in childhood. It is characterised by nonhaemolytic jaundice, attacks of intermittent epigastric discomfort and occasionally abdominal pain, and fever. Pathological findings include low-grade pigment deposition, dissociation of liver cells, occasional necrotic foci, and fibrin precipitation. Aetiology unknown. Possibly, autosomal recessive inheritance. It is due to a defect in the excretion of unconjugated bilirubin into the biliary caniculi with the bilirubin being absorbed into the blood and excreted in the urine. Primarily reported in patients from the Philippines.

Rotor’s syndrome is similar to the Dubin-Johnson syndrome, except that the gall bladder is usually visualised on an oral cholecystogram and there is no secondary appearance of the dye during the performance of bromsulphaphtalien. May be the same condition as hepatic storage disease reported in Japan and France. [Whonamedit.com 2009 ONLINE

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External Links Related to Rotor syndrome
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Wikipedia
Merck
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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