Gilbert syndrome

Preferred Label : Gilbert syndrome;

CISMeF acronym : HBLRG;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperbilirubinemia I; Hyperbilirubinemia, arias type; Hyperbilirubinemia, gilbert type; HBLRG;

Description : The hereditary hyperbilirubinemias (Wolkoff et al., 1983) include (1) those resulting in predominantly unconjugated hyperbilirubinemia: Gilbert or Arias syndrome, Crigler-Najjar syndrome type I (218800), and Crigler-Najjar syndrome type II (606785); and (2) those resulting in predominantly conjugated hyperbilirubinemia: Dubin-Johnson syndrome (237500), Rotor syndrome (237450), and several forms of intrahepatic cholestasis (147480, 211600, 214950, 243300). Detailed studies show that patients with Gilbert syndrome have reduced activity of bilirubin glucuronosyltransferase (Bosma et al., 1995, Koiwai et al., 1995). - Genetic Heterogeneity of Hyperbilirubinemia See also Crigler-Najjar syndrome type I (HBLRCN1; 218800), Crigler-Najjar syndrome type II (HBLRCN2; 606785), and transient familial neonatal hyperbilirubinemia (HBLRTFN; 237900), all caused by mutation in the UGT1A1 gene (191740) on chromosome 2q37; Dubin-Johnson syndrome (DJS, HBLRDJ; 237500), caused by mutation in the ABCC2 gene (601107) on chromosome 10q24; and Rotor syndrome (HBLRR; 237450), caused by digenic mutation in the SLCO1B1 (604843) and SLCOB3 (605495) genes, both on chromosome 12p.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the uridine diphosphate glycosyltransferase 1 gene (UGT1A1, 191740.0010);

Laboratory abnormalities : Decreased hepatic UDP-glucuronyl-transferase activity; Hyperbilirubinemia, non-hemolytic unconjugated (may rise with fasting or dehydration); Normal liver function test;

Prefixed ID : #143500;

Details

Origin ID

143500;

UMLS CUI

C0017551;

Automatic exact mappings (from CISMeF team)
- Gilbert syndrome [DO Concept]
- Hyperbilirubinemia [PASCAL descriptor]
- Hyperbilirubinemia [NCIt concept]
- hyperbilirubinemia [MeSH Descriptor]
- hyperbilirubinemia [MeSH concept]
Currated CISMeF NLP mapping
- Gilbert Meulengracht Syndrome [Disease (Nov.)]
- Gilbert Syndrome [NCIt concept]
- Gilbert syndrome [ICD-10 Sub-category]
- Gilbert syndrome [ICD-11 Sub-sub category]
- Gilbert syndrome [ORDO Disease]
- Gilbert's syndrome [MedDRA Preferred Term]
- Gilbert's syndrome (disorder) [SNOMED CT concept]
- Gilberts syndrome [ICD-10 Sub-category (who)]
- gilbert disease [MeSH Descriptor]
- gilbert disease [MeSH concept]
- gilbert's syndrome [SNOMED Notion]
DO Cross reference
- Gilbert syndrome [DO Concept]
Genes related to phenotype
- Udp-glycosyltransferase 1 family, polypeptide a1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Dehydration [HPO term]
- Jaundice [HPO term]
- Unconjugated hyperbilirubinemia [HPO term]
Not associated HPO term(s)
- Hepatic failure [HPO term]
ORDO concept(s)
- Gilbert syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gilbert Meulengracht Syndrome [Disease (Nov.)]
- Gilbert Syndrome [NCIt concept]
- Gilbert syndrome [ORDO Disease]
- Gilbert syndrome [ICD-10 Sub-category]
- Gilbert syndrome [DO Concept]
- Gilbert syndrome [ICD-11 Sub-sub category]
- Gilbert's syndrome [MedDRA Preferred Term]
- Gilbert's syndrome (disorder) [SNOMED CT concept]
- Gilberts syndrome [ICD-10 Sub-category (who)]
- gilbert disease [MeSH Descriptor]
- gilbert disease [MeSH concept]
- gilbert's syndrome [SNOMED Notion]

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