U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hereditary hyperbilirubinemia

MedGen UID:
6963
•Concept ID:
C0020435
•
Disease or Syndrome
Synonyms: Hereditary Hyperbilirubinemia; Hereditary Hyperbilirubinemias; Hyperbilirubinemia, Hereditary; Hyperbilirubinemias, Hereditary
 
Monarch Initiative: MONDO:0002408
OMIM® Phenotypic series: PS237450

Definition

An inherited disorder affecting the metabolism of bilirubin. It results in increased levels of bilirubin in the blood. Representative examples of this condition include Gilbert syndrome and Crigler-Najjar syndrome. [from NCI]

Professional guidelines

PubMed

Diagnostic criteria and contributors to Gilbert's syndrome.
Wagner KH, Shiels RG, Lang CA, Seyed Khoei N, Bulmer AC
Crit Rev Clin Lab Sci 2018 Mar;55(2):129-139. Epub 2018 Feb 1 doi: 10.1080/10408363.2018.1428526. PMID: 29390925
Genetic Testing in Liver Disease: What to Order, in Whom, and When.
Schonfeld EA, Brown RS Jr
Clin Liver Dis 2017 Nov;21(4):673-686. Epub 2017 Jul 29 doi: 10.1016/j.cld.2017.06.001. PMID: 28987255
Postoperative jaundice. Mechanism, diagnosis and treatment.
Van Thiel DH, Lester R
Surg Clin North Am 1975 Apr;55(2):409-18. doi: 10.1016/s0039-6109(16)40589-x. PMID: 1093267

Recent clinical studies

Etiology

Genes for jaundice.
Hardikar W
J Paediatr Child Health 1999 Dec;35(6):522-4. doi: 10.1046/j.1440-1754.1999.00431.x. PMID: 10620165
New insights into the classification and mechanisms of hereditary, chronic, non-haemolytic hyperbilirubinaemias.
Berthelot P, Dhumeaux D
Gut 1978 Jun;19(6):474-80. doi: 10.1136/gut.19.6.474. PMID: 98393Free PMC Article
Neonatal jaundice and phototherapy.
Lucey JF
Pediatr Clin North Am 1972 Nov;19(4):827-39. doi: 10.1016/s0031-3955(16)32768-7. PMID: 4564822
Genetics and gastroenterology.
McConnell RB
Gut 1971 Jul;12(7):592-8. doi: 10.1136/gut.12.7.592. PMID: 4934411Free PMC Article
The newer hyperbilirubinemias.
Harris RC
Dis Mon 1968 Mar:1-32. doi: 10.1016/s0011-5029(68)80008-2. PMID: 4968708

Diagnosis

Inherited disorders of bilirubin clearance.
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
Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome).
Strassburg CP
Best Pract Res Clin Gastroenterol 2010 Oct;24(5):555-71. doi: 10.1016/j.bpg.2010.07.007. PMID: 20955959
Genes for jaundice.
Hardikar W
J Paediatr Child Health 1999 Dec;35(6):522-4. doi: 10.1046/j.1440-1754.1999.00431.x. PMID: 10620165
Neonatal nonhemolytic jaundice.
Johnson JD
N Engl J Med 1975 Jan 23;292(4):194-7. doi: 10.1056/NEJM197501232920406. PMID: 803225
Gilbert's syndrome.
Arias IM
Br Med J 1968 Jun 15;2(5606):702. doi: 10.1136/bmj.2.5606.702. PMID: 5658426Free PMC Article

Therapy

Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome).
Strassburg CP
Best Pract Res Clin Gastroenterol 2010 Oct;24(5):555-71. doi: 10.1016/j.bpg.2010.07.007. PMID: 20955959
Neonatal nonhemolytic jaundice.
Johnson JD
N Engl J Med 1975 Jan 23;292(4):194-7. doi: 10.1056/NEJM197501232920406. PMID: 803225
Neonatal jaundice.
Scheig R
Am Fam Physician 1974 Oct;10(4):158-64. PMID: 4414786
Neonatal jaundice and phototherapy.
Lucey JF
Pediatr Clin North Am 1972 Nov;19(4):827-39. doi: 10.1016/s0031-3955(16)32768-7. PMID: 4564822
The newer hyperbilirubinemias.
Harris RC
Dis Mon 1968 Mar:1-32. doi: 10.1016/s0011-5029(68)80008-2. PMID: 4968708

Prognosis

Coronary Artery Disease in Patients With Disorders of Bilirubin Excretion.
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
The familial unconjugated hyperbilirubinemias.
Semin Liver Dis 1994 Nov;14(4):356-85. doi: 10.1055/s-2007-1007328. PMID: 7855631
Gilbert's syndrome: report of a case and review of literature.
Cowsill LJ
J Am Osteopath Assoc 1979 May;78(9):631-6. PMID: 376493
Erythroblastosis fetalis and hyperbilirubinemia. A five-year follow-up with neurological, psychological, and audiological evaluation.
Johnston WH, Angara V, Baumal R, Hawke WA, Johnson RH, Keet S, Wood M
Pediatrics 1967 Jan;39(1):88-92. PMID: 6066698
Icterus and pregnancy.
Friedlaender P, Osler M
Am J Obstet Gynecol 1967 Apr 1;97(7):894-900. doi: 10.1016/0002-9378(67)90513-3. PMID: 6021104

Clinical prediction guides

Complete Absence of the Extrahepatic Biliary Tree in a Newborn With Pigmented Stools.
Hartmann P, Carter R, Keller B, Saenz NC, Schwarz KB
Pediatrics 2021 Jul;148(1) Epub 2021 Jun 18 doi: 10.1542/peds.2020-038596. PMID: 34398808
The novel bilirubin/phenol UDP-glucuronosyltransferase UGT1 gene locus: implications for multiple nonhemolytic familial hyperbilirubinemia phenotypes.
Owens IS, Ritter JK
Pharmacogenetics 1992 Jun;2(3):93-108. doi: 10.1097/00008571-199206000-00001. PMID: 1306114
Relevance of urinary coproporphyrin isomers in hereditary hyperbilirubinemias.
Frank M, Doss MO
Clin Biochem 1989 Jun;22(3):221-2. doi: 10.1016/s0009-9120(89)80080-3. PMID: 2736773
New insights into the classification and mechanisms of hereditary, chronic, non-haemolytic hyperbilirubinaemias.
Berthelot P, Dhumeaux D
Gut 1978 Jun;19(6):474-80. doi: 10.1136/gut.19.6.474. PMID: 98393Free PMC Article
Unconjugated hyperbilirubinaemia in achalasia.
Fevery J, Heirwegh KP, De Groote J
Gut 1974 Feb;15(2):121-4. doi: 10.1136/gut.15.2.121. PMID: 4820636Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...