Rotor syndrome

Rotor syndrome
Bilirubin
Classification and external resources
Specialty	endocrinology
ICD-10	E80.6
ICD-9-CM	277.4
OMIM	237450
DiseasesDB	11671
MeSH	D006933

Rotor syndrome, also called Rotor type hyperbilirubinemia,^[1] is a rare, relatively benign autosomal recessive^[2] bilirubin disorder. It is a distinct, yet similar disorder to Dubin–Johnson syndrome^[1] — both diseases cause an increase in conjugated bilirubin.

Signs and symptoms

Rotor syndrome has many features in common with Dubin–Johnson syndrome, an exception being that the liver cells are not pigmented. The main symptom is a non-itching jaundice. There is a rise in bilirubin in the patient's serum, mainly of the conjugated type.

It can be differentiated from Dubin–Johnson syndrome in the following ways:

	Rotor syndrome	Dubin–Johnson syndrome
appearance of liver	normal histology and appearance	liver has black pigmentation
gallbladder visualization	gallbladder can be visualized by oral cholecystogram	gallbladder cannot be visualized
total urine coproporphyrin content	high with <70% being isomer 1	normal with >80% being isomer 1 (normal urine contains more of isomer 3 than isomer 1)

Genetics

Rotor syndrome has an autosomal recessive pattern of inheritance.

Rotor syndrome is inherited in an autosomal recessive manner.^[2]

The SLCO1B1 and SLCO1B3 genes are involved in Rotor syndrome. Mutations in both genes are required for the condition to occur. The SLCO1B1 and SLCO1B3 genes provide instructions for making similar proteins, called organic anion transporting polypeptide 1B1 (OATP1B1) and organic anion transporting polypeptide 1B3 (OATP1B3), respectively. Both proteins are found in liver cells; they transport bilirubin and other compounds from the blood into the liver so that they can be cleared from the body. In the liver, bilirubin is dissolved in a digestive fluid called bile and then excreted from the body. The SLCO1B1 and SLCO1B3 gene mutations that cause Rotor syndrome lead to abnormally short, nonfunctional OATP1B1 and OATP1B3 proteins or an absence of these proteins. Without the function of either transport protein, bilirubin is less efficiently taken up by the liver and removed from the body. The buildup of this substance leads to jaundice in people with Rotor syndrome.^[3]

Eponym

Rotor syndrome is named after the Filipino internist, Arturo Belleza Rotor (1907–1988).^[4]

References

1 2 Online 'Mendelian Inheritance in Man' (OMIM) 237450
1 2 Wolkoff AW, Wolpert E, Pascasio FN, Arias IM (February 1976). "Rotor's syndrome. A distinct inheritable pathophysiologic entity". The American Journal of Medicine 60 (2): 173–179. doi:10.1016/0002-9343(76)90426-5. PMID 766621.
↑ http://ghr.nlm.nih.gov/condition/rotor-syndrome
↑ synd/2296 at Who Named It?

External links

Hyperbilirubinemia, Conjugated at eMedicine
Rotor syndrome at NIH's Office of Rare Diseases
Mentioned in MedlinePlus Encyclopedia Jaundice – yellow skin

Heme metabolism disorders (E80, 277.1, 277.4)

Porphyria,
hepatic and erythropoietic
(porphyrin)

early mitochondrial:	ALAD porphyria Acute intermittent porphyria

cytoplasmic:	Gunther disease/congenital erythropoietic porphyria Porphyria cutanea tarda/Hepatoerythropoietic porphyria

late mitochondrial:	Hereditary coproporphyria Harderoporphyria Variegate porphyria Erythropoietic protoporphyria

Hereditary hyperbilirubinemia
(bilirubin)

unconjugated:	Gilbert's syndrome Crigler–Najjar syndrome Lucey–Driscoll syndrome

conjugated:	Dubin–Johnson syndrome Rotor syndrome

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