Details of Disease

General Information of Disease (ID: DISMUZF4)

• Disease Name: Gilbert syndrome
• Synonyms: hyperbilirubinemia, Arias type; hyperbilirubinemia, Gilbert type; hyperbilirubinemia 1; Gilbert-Meulengracht syndrome; Gilbert syndrome; familial cholemia; hyperbilirubinemia type 1; Gilbert's disease; Gilbert's syndrome; Gilbert disease; constitutional hyperbilirubinemia; hereditary nonhemolytic jaundice
• Definition: An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DIS788JD: Hereditary hyperbilirubinemia
  DISMUZF4: Gilbert syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0007745
  MESH ID: D005878
  UMLS CUI: C0017551
  OMIM ID: 143500
  MedGen ID: 4891
  Orphanet ID: 357
  SNOMED CT ID: 27503000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
UGT1A1	OTH1C8OJ	Strong	Autosomal recessive	[1]
CNDP2	OTJR9436	Strong	Genetic Variation	[8]
CYP2D7	OTYJTL3S	Strong	Biomarker	[9]
IBSP	OT29944Y	Strong	Biomarker	[10]
NT5C3A	OT67KZJA	Strong	Genetic Variation	[11]

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ABCG5	TTKZ7WY	Strong	Genetic Variation	[2]
G6PD	TTKN8W0	Strong	Biomarker	[3]
SLC10A2	TTPI1M5	Strong	Genetic Variation	[2]
UGT1A1	TT34ZAF	Strong	Genetic Variation	[4]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC35A2	DT0567K	Limited	Genetic Variation	[5]

This Disease Is Related to 9 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
UGT1A3	DEF2WXN	moderate	Genetic Variation	[6]
UGT1A1	DEYGVN4	Strong	Autosomal recessive	[1]
UGT1A10	DEL5N6Y	Strong	Altered Expression	[7]
UGT1A4	DELOY3P	Strong	Altered Expression	[7]
UGT1A5	DEPF954	Strong	Genetic Variation	[6]
UGT1A6	DESD26P	Strong	Altered Expression	[7]
UGT1A7	DEZO4N3	Strong	Altered Expression	[7]
UGT1A8	DE2GB8N	Strong	Altered Expression	[7]
UGT1A9	DE85D2P	Strong	Genetic Variation	[6]

References

• [1] UGT1A1 genetic analysis as a diagnostic aid for individuals with unconjugated hyperbilirubinemia. J Pediatr. 2013 Jun;162(6):1146-52, 1152.e1-2. doi: 10.1016/j.jpeds.2012.11.042. Epub 2013 Jan 4.
• [2] Genetics of biliary lithiasis from an ethnic perspective.Clin Res Hepatol Gastroenterol. 2013 Apr;37(2):119-25. doi: 10.1016/j.clinre.2012.09.002. Epub 2013 Jan 20.
• [3] Disease-modifying influences of coexistent G6PD-deficiency, Gilbert syndrome and deletional alpha thalassemia in hereditary spherocytosis: A report of three cases.Clin Chim Acta. 2016 Jul 1;458:51-4. doi: 10.1016/j.cca.2016.04.020. Epub 2016 Apr 20.
• [4] Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next-generation sequencing: First South Asian study.Br J Haematol. 2020 Mar;188(5):784-795. doi: 10.1111/bjh.16244. Epub 2019 Oct 10.
• [5] Genetic susceptibility to Gilbert's syndrome in a valencian population; efficacy of the fasting test.Rev Clin Esp (Barc). 2017 Jan-Feb;217(1):1-6. doi: 10.1016/j.rce.2016.10.001. Epub 2016 Nov 17.
• [6] Developmental hyperbilirubinemia and CNS toxicity in mice humanized with the UDP glucuronosyltransferase 1 (UGT1) locus.Proc Natl Acad Sci U S A. 2010 Mar 16;107(11):5024-9. doi: 10.1073/pnas.0913290107. Epub 2010 Mar 1.
• [7] Effect of UDP-glucuronosyltransferase 1A1 activity on risk for developing Gilbert's syndrome.Kaohsiung J Med Sci. 2019 Jul;35(7):432-439. doi: 10.1002/kjm2.12077. Epub 2019 Apr 24.
• [8] Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II.Biochim Biophys Acta. 1998 Apr 28;1406(3):267-73. doi: 10.1016/s0925-4439(98)00013-1.
• [9] Disposition of propafenone in a poor metabolizer of CYP2D6 with Gilbert's syndrome.Ther Drug Monit. 2000 Jun;22(3):366-8. doi: 10.1097/00007691-200006000-00020.
• [10] Hepatic uptake of organic anions affects the plasma bilirubin level in subjects with Gilbert's syndrome mutations in UGT1A1.Hepatology. 2001 Mar;33(3):627-32. doi: 10.1053/jhep.2001.22499.
• [11] Pyrimidine-5'-nucleotidase Campinas, a new mutation (p.R56G) in the NT5C3 gene associated with pyrimidine-5'-nucleotidase type I deficiency and influence of Gilbert's Syndrome on clinical expression.Blood Cells Mol Dis. 2014 Dec;53(4):246-52. doi: 10.1016/j.bcmd.2014.05.009. Epub 2014 Aug 18.