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Rotor syndrome(HBLRR)

MedGen UID:
67435
Concept ID:
C0220991
Disease or Syndrome
Synonyms: HBLRR; Hyperbilirubinemia, Rotor type; HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC
SNOMED CT: Hyperbilirubinemia type I (32891000); Rotor syndrome (32891000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Genes (locations): SLCO1B1 (12p12.1); SLCO1B3 (12p12.2)
 
Monarch Initiative: MONDO:0009379
OMIM®: 237450
Orphanet: ORPHA3111

Disease characteristics

Excerpted from the GeneReview: Rotor Syndrome
Rotor syndrome is characterized by mild conjugated and unconjugated hyperbilirubinemia that usually begins shortly after birth or in childhood. Jaundice may be intermittent. Conjunctival icterus may be the only clinical manifestation. [from GeneReviews]
Authors:
Milan Jirsa  |  AS Knisely  |  Alfred Schinkel, et. al.   view full author information

Additional descriptions

From OMIM
The Rotor type of hyperbilirubinemia is an autosomal recessive form of primary conjugated hyperbilirubinemia. It is similar to Dubin-Johnson syndrome (DJS; 237500) in that affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. However, Rotor syndrome can be distinguished from DJS by a lack of hepatocyte pigment deposits, delayed plasma clearance of the unconjugated anionic dye bromsulfthalein, poor hepatic visualization on certain radiographic imaging studies, and prominent urinary excretion of coproporphyrin I (summary by van de Steeg et al., 2012).  http://www.omim.org/entry/237450
From MedlinePlus Genetics
Rotor syndrome is a relatively mild condition characterized by elevated levels of a substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down. It has an orange-yellow tint, and buildup of this substance can cause yellowing of the skin or whites of the eyes (jaundice). In people with Rotor syndrome, jaundice is usually evident shortly after birth or in childhood and may come and go; yellowing of the whites of the eyes (also called conjunctival icterus) is often the only symptom.

There are two forms of bilirubin in the body: a toxic form called unconjugated bilirubin and a nontoxic form called conjugated bilirubin. People with Rotor syndrome have a buildup of both unconjugated and conjugated bilirubin in their blood, but the majority is conjugated.  https://medlineplus.gov/genetics/condition/rotor-syndrome

Clinical features

From HPO
Jaundice
MedGen UID:
43987
Concept ID:
C0022346
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Abnormality of the skeletal system
MedGen UID:
867418
Concept ID:
C4021790
Anatomical Abnormality
An abnormality of the skeletal system.
Conjugated hyperbilirubinemia
MedGen UID:
82787
Concept ID:
C0268307
Disease or Syndrome
Abnormally high level of conjugated bilirubin in the blood.
Abnormality of skin pigmentation
MedGen UID:
224697
Concept ID:
C1260926
Finding
An abnormality of the pigmentation of the skin.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Rotor syndrome in Orphanet.

Professional guidelines

PubMed

Hahn JW, Lee H, Shin M, Seong MW, Moon JS, Ko JS
J Gastroenterol Hepatol 2024 May;39(5):964-974. Epub 2024 Feb 7 doi: 10.1111/jgh.16505. PMID: 38323732

Recent clinical studies

Etiology

Auwerx C, Lepamets M, Sadler MC, Patxot M, Stojanov M, Baud D, Mägi R; Estonian Biobank Research Team, Porcu E, Reymond A, Kutalik Z
Am J Hum Genet 2022 Apr 7;109(4):647-668. Epub 2022 Mar 2 doi: 10.1016/j.ajhg.2022.02.010. PMID: 35240056Free PMC Article
Erlinger S, Arias IM, Dhumeaux D
Gastroenterology 2014 Jun;146(7):1625-38. Epub 2014 Apr 1 doi: 10.1053/j.gastro.2014.03.047. PMID: 24704527
Sticova E, Jirsa M
World J Gastroenterol 2013 Oct 14;19(38):6398-407. doi: 10.3748/wjg.v19.i38.6398. PMID: 24151358Free PMC Article
Cichoz-Lach H, Celiński K, Słomka M
Ann Univ Mariae Curie Sklodowska Med 2004;59(1):449-52. PMID: 16146029
Nowicki MJ, Poley JR
Baillieres Clin Gastroenterol 1998 Jun;12(2):355-67. doi: 10.1016/s0950-3528(98)90139-7. PMID: 9890077

Diagnosis

Cheng YY, Chang KC, Chen PL, Yeung CY, Liou BY, Chen HL
J Formos Med Assoc 2023 Jul;122(7):648-652. Epub 2023 Mar 23 doi: 10.1016/j.jfma.2023.03.003. PMID: 36964102
Kimura A, Kagawa T, Takei H, Maruo Y, Sakugawa H, Sasaki T, Murai T, Naritaka N, Takikawa H, Nittono H
Hepatol Commun 2021 Apr;5(4):629-633. Epub 2020 Dec 31 doi: 10.1002/hep4.1660. PMID: 33860121Free PMC Article
Memon N, Weinberger BI, Hegyi T, Aleksunes LM
Pediatr Res 2016 Mar;79(3):378-86. Epub 2015 Nov 23 doi: 10.1038/pr.2015.247. PMID: 26595536Free PMC Article
van Dijk R, Beuers U, Bosma PJ
Clin Rev Allergy Immunol 2015 Jun;48(2-3):243-53. doi: 10.1007/s12016-014-8454-7. PMID: 25315738
Strassburg CP
Best Pract Res Clin Gastroenterol 2010 Oct;24(5):555-71. doi: 10.1016/j.bpg.2010.07.007. PMID: 20955959

Therapy

Stránecký V, Neřoldová M, Hodaňová K, Hartmannová H, Piherová L, Zemánková P, Přistoupilová A, Vrablík M, Adámková V, Kmoch S, Jirsa M
Physiol Res 2016 Dec 13;65(6):1005-1011. Epub 2016 Aug 19 doi: 10.33549/physiolres.933284. PMID: 27539103
Helmy H, El-Dib N, Mogahed E, Yasin N, El-Karaksy H
J Egypt Soc Parasitol 2011 Aug;41(2):417-22. PMID: 21980780
Strassburg CP
Best Pract Res Clin Gastroenterol 2010 Oct;24(5):555-71. doi: 10.1016/j.bpg.2010.07.007. PMID: 20955959
Ohkubo H, Okuda K
Hepatology 1984 Nov-Dec;4(6):1206-8. doi: 10.1002/hep.1840040618. PMID: 6500512

Prognosis

Gupta N, Chaudhary R, Krishnamoorthy P, Mahajan S, Bodin R, Sule S
Am J Ther 2017 Nov-Dec;24(6):e653-e658. doi: 10.1097/MJT.0000000000000343. PMID: 26448335
Stránecký V, Neřoldová M, Hodaňová K, Hartmannová H, Piherová L, Zemánková P, Přistoupilová A, Vrablík M, Adámková V, Kmoch S, Jirsa M
Physiol Res 2016 Dec 13;65(6):1005-1011. Epub 2016 Aug 19 doi: 10.33549/physiolres.933284. PMID: 27539103
van de Steeg E, Stránecký V, Hartmannová H, Nosková L, Hřebíček M, Wagenaar E, van Esch A, de Waart DR, Oude Elferink RP, Kenworthy KE, Sticová E, al-Edreesi M, Knisely AS, Kmoch S, Jirsa M, Schinkel AH
J Clin Invest 2012 Feb;122(2):519-28. Epub 2012 Jan 9 doi: 10.1172/JCI59526. PMID: 22232210Free PMC Article
Cichoz-Lach H, Celiński K, Słomka M
Ann Univ Mariae Curie Sklodowska Med 2004;59(1):449-52. PMID: 16146029

Clinical prediction guides

Hahn JW, Lee H, Shin M, Seong MW, Moon JS, Ko JS
J Gastroenterol Hepatol 2024 May;39(5):964-974. Epub 2024 Feb 7 doi: 10.1111/jgh.16505. PMID: 38323732
Gupta N, Chaudhary R, Krishnamoorthy P, Mahajan S, Bodin R, Sule S
Am J Ther 2017 Nov-Dec;24(6):e653-e658. doi: 10.1097/MJT.0000000000000343. PMID: 26448335
Stránecký V, Neřoldová M, Hodaňová K, Hartmannová H, Piherová L, Zemánková P, Přistoupilová A, Vrablík M, Adámková V, Kmoch S, Jirsa M
Physiol Res 2016 Dec 13;65(6):1005-1011. Epub 2016 Aug 19 doi: 10.33549/physiolres.933284. PMID: 27539103
van de Steeg E, Stránecký V, Hartmannová H, Nosková L, Hřebíček M, Wagenaar E, van Esch A, de Waart DR, Oude Elferink RP, Kenworthy KE, Sticová E, al-Edreesi M, Knisely AS, Kmoch S, Jirsa M, Schinkel AH
J Clin Invest 2012 Feb;122(2):519-28. Epub 2012 Jan 9 doi: 10.1172/JCI59526. PMID: 22232210Free PMC Article
Fretzayas AM, Garoufi AI, Moutsouris CX, Karpathios TE
J Nucl Med 1994 Jun;35(6):1048-50. PMID: 8195868

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