Hereditary Hyperbilirubinemia (Rotor Syndrome)

Inborn errors of bilirubin metabolism resulting in excessive amounts of bilirubin in the circulating blood, either because of increased bilirubin production or because of delayed clearance of bilirubin from the blood.

Also Known As:

Networked: 22 relevant articles (2 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Chronic Idiopathic Jaundice (Dubin Johnson Syndrome)
2.	Hyperbilirubinemia
3.	Gilbert Disease
4.	Crigler-Najjar Syndrome (Syndrome, Crigler-Najjar)
5.	Stroke (Strokes)

Experts

1.	Dhumeaux, Daniel: 2 articles (06/2014 - 02/2013)
2.	Erlinger, Serge: 2 articles (06/2014 - 02/2013)
3.	Jirsa, Milan: 2 articles (10/2013 - 02/2012)
4.	Beuers, Ulrich: 1 article (06/2015)
5.	Bosma, Piter J: 1 article (06/2015)
6.	van Dijk, Remco: 1 article (06/2015)
7.	Zemojtel, Tomasz: 1 article (03/2015)
8.	Sakugawa, Hiroshi: 1 article (03/2015)
9.	Kawabe, Noboru: 1 article (03/2015)
10.	Kobayashi, Yoshinao: 1 article (03/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hereditary Hyperbilirubinemia:

1.	Technetium Tc 99m LidofeninIBA 03/01/1982 - "It is concluded that 99mTc-HIDA cholescintigraphy may be helpful in the diagnosis of Dubin-Johnson syndrome and Rotor syndrome and in the differential diagnosis between these two conditions." 06/01/1994 - "In three patients with chronic conjugated hyperbilirubinemia who carried the diagnosis of Rotor syndrome, 99mTc-HIDA cholescintigraphy was performed. " 03/01/1982 - "99mTc-HIDA cholescintigraphy was performed in 6 patients with Dubin-Johnson syndrome and 1 patient with Rotor syndrome. "
2.	diisopropylamine dichloroacetate (DIPA)IBA 05/01/1997 - "It is concluded that Tc-99m DIPA cholescintigraphy may be helpful in the diagnosis of Rotor syndrome." 05/01/1997 - "A 2-year-old boy with Rotor syndrome was studied with Tc-99m N-(di-isopropylphenyl carbamoylmethyl) iminodiacetic acid (DIPA). "
3.	BilirubinIBA 06/01/2014 - "Reductions in uptake could increase levels of unconjugated or conjugated bilirubin (Rotor syndrome). " 10/14/2013 - "In this review, we discuss the recent data on liver bilirubin handling based on the discovery of the molecular basis of Rotor syndrome. " 02/01/2012 - "Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver." 11/01/1994 - "Bilirubin metabolism and the hereditary hyperbilirubinemias." 01/01/1979 - "Current concepts of bilirubin metabolism and hereditary hyperbilirubinemia."
4.	PeptidesIBA 02/01/2013 - "Here, we analyzed 8 Rotor-syndrome families and found that Rotor syndrome was linked to mutations predicted to cause complete and simultaneous deficiencies of the organic anion transporting polypeptides OATP1B1 and OATP1B3. " 02/01/2012 - "Here, we analyzed 8 Rotor-syndrome families and found that Rotor syndrome was linked to mutations predicted to cause complete and simultaneous deficiencies of the organic anion transporting polypeptides OATP1B1 and OATP1B3. " 03/01/2015 - "It has been recently shown that the homozygous inactivation of two adjacent genes SLCO1B1 and SLCO1B3 encoding organic anion transporting polypeptides OATP1B1 and OATP1B3 causes a benign recessive disease presenting with conjugated hyperbilirubinemia, Rotor syndrome. "
5.	Glutathione (Reduced Glutathione)IBA 08/01/1989 - "Hepatobiliary transport of glutathione and glutathione conjugate in rats with hereditary hyperbilirubinemia." 04/01/1992 - "Erythrocyte membrane transport of glutathione conjugates and oxidized glutathione in the Dubin-Johnson syndrome and in rats with hereditary hyperbilirubinemia." 01/01/1975 - "Sulfobromophthalein (BSP) and its three major forms of conjugates were determined in bile or duodenal aspitate, plasma and urine following intravenous administration of free BSP and synthetic BSP-glutathione (BSP-GSH) in five patients with the Dubin-Johnson syndrome and two patients with the Rotor syndrome, using alumina column chromatography. "
6.	bilirubin glucuronateIBA 02/01/2013 - "Thus, disruption of hepatic reuptake of bilirubin glucuronide due to coexisting OATP1B1 and OATP1B3 deficiencies explains Rotor-type hyperbilirubinemia.Moreover" 02/01/2012 - "Thus, disruption of hepatic reuptake of bilirubin glucuronide due to coexisting OATP1B1 and OATP1B3 deficiencies explains Rotor-type hyperbilirubinemia. "
7.	Glutathione Disulfide (GSSG)FDA LinkGeneric 04/01/1992 - "Erythrocyte membrane transport of glutathione conjugates and oxidized glutathione in the Dubin-Johnson syndrome and in rats with hereditary hyperbilirubinemia."
8.	Ursodeoxycholic Acid (Urso)FDA LinkGeneric 07/01/1981 - "An oral tolerance test using a 25-mg dose of ursodeoxycholic acid was carried out in 46 patients with constitutional hyperbilirubinemias: 26 with Gilbert's syndrome, 9 with Dubin-Johnson syndrome, 7 with Rotor Syndrome, 3 with constitutional indocyanine green intolerance, and 1 with Crigler-Najjar syndrome type II; they were compared with 14 healthy control subjects. "
9.	Sulfobromophthalein (Sulfobromophthalein Sodium)IBA 01/01/1975 - "Sulfobromophthalein (BSP) and its three major forms of conjugates were determined in bile or duodenal aspitate, plasma and urine following intravenous administration of free BSP and synthetic BSP-glutathione (BSP-GSH) in five patients with the Dubin-Johnson syndrome and two patients with the Rotor syndrome, using alumina column chromatography. "
10.	Retinaldehyde (Retinal)IBA 12/01/1988 - " Hormonal contraceptives should be prescribed only after examination to rule out well known contraindications such as pregnancy, preexisting thrombosis and embolisms (including retinal thromboses), tendency toward myocardial infarct, tendency toward strokes, blood pressure above 140/90 mm Hg (untreated), acute diabetes mellitus with vascular changes heavy smoking above age 35, potential estrogen-dependent tumors (mammary carcinoma and hepatocellular adenoma), acute and progressive chronic hepatopathy, familial or congenital disorders of bilirubin metabolism (for example, Dubin-Johnson syndrome and rotor syndrome), and longterm immobilization."

Therapies and Procedures

1.	Oral Administration 07/01/1981 - "The integrated area under the curve of increments of serum UDCA above the base line between 0 and 2 h after oral administration was significantly increased in patients with Gilbert's syndrome and Dubin-Johnson syndrome, whereas it was normal in patients with Rotor syndrome and constitutional indocyanine green intolerance. "