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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
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Hyperbilirubinemia type I (32891000); Rotor syndrome (32891000)
 
Genes (locations): SLCO1B1 (12p12.1); SLCO1B3 (12p12.2)
OMIM®: 237450
Orphanet: ORPHA3111

Definition

Rotor syndrome is characterized by mild conjugated and unconjugated hyperbilirubinemia which usually begins shortly after birth or in childhood. Jaundice may be intermittent. Conjunctival icterus may be the only clinical manifestation. [from GTR]

Additional descriptions

From GeneReviews
Rotor syndrome is characterized by mild conjugated and unconjugated hyperbilirubinemia which usually begins shortly after birth or in childhood. Jaundice may be intermittent. Conjunctival icterus may be the only clinical manifestation.  https://www.ncbi.nlm.nih.gov/books/NBK114805
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 GHR
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://ghr.nlm.nih.gov/condition/rotor-syndrome

Clinical features

Jaundice
MedGen UID:
43987
Concept ID:
C0022346
Sign or Symptom
A clinical manifestation of HYPERBILIRUBINEMIA, characterized by the yellowish staining of the SKIN; MUCOUS MEMBRANE; and SCLERA. Clinical jaundice usually is a sign of LIVER dysfunction.
Conjugated hyperbilirubinemia
MedGen UID:
82787
Concept ID:
C0268307
Disease or Syndrome
Abnormally high level of conjugated bilirubin in the blood.(NICHD)
Abnormality of the skeletal system
MedGen UID:
867418
Concept ID:
C4021790
Anatomical Abnormality
An abnormality of the skeletal system.
Jaundice
MedGen UID:
43987
Concept ID:
C0022346
Sign or Symptom
A clinical manifestation of HYPERBILIRUBINEMIA, characterized by the yellowish staining of the SKIN; MUCOUS MEMBRANE; and SCLERA. Clinical jaundice usually is a sign of LIVER dysfunction.
Abnormality of skin pigmentation
MedGen UID:
224697
Concept ID:
C1260926
Finding
An abnormality in the formation or distribution of pigment in the skin, hair or nails.

Term Hierarchy

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

Recent clinical studies

Etiology

Sticova E, Lodererova A, van de Steeg E, Frankova S, Kollar M, Lanska V, Kotalova R, Dedic T, Schinkel AH, Jirsa M
Int J Clin Exp Pathol 2015;8(5):5252-62. Epub 2015 May 1 PMID: 26191226Free 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
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

Diagnosis

Sirucek P, Sulakova A, Jirsa M, Mrhac L, Havel M, Kraft O
Pediatr Int 2015 Oct;57(5):981-5. doi: 10.1111/ped.12676. PMID: 26508179
Kagawa T, Oka A, Kobayashi Y, Hiasa Y, Kitamura T, Sakugawa H, Adachi Y, Anzai K, Tsuruya K, Arase Y, Hirose S, Shiraishi K, Shiina T, Sato T, Wang T, Tanaka M, Hayashi H, Kawabe N, Robinson PN, Zemojtel T, Mine T
Hum Mutat 2015 Mar;36(3):327-32. doi: 10.1002/humu.22745. PMID: 25546334
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
Teh CP, Nevard CH, Lawson N
Pediatr Nephrol 1999 Sep;13(7):627-8. PMID: 10507830

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 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. PMID: 6500512

Prognosis

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 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

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 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
Ohkubo H, Okuda K
Hepatology 1984 Nov-Dec;4(6):1206-8. PMID: 6500512

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