GILBERT SYNDROME

Question 1

What is  GILBERT SYNDROME?

Accepted Answer

rare

autosomal recessive

mutation in the UDP-glucuronosyltransferase gene (UGT1A1)

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 143500

Question 3

Which enzymes are involved?

Accepted Answer

UDP-glucuronosyltransferase 1-1

Disease	GILBERT SYNDROME
OMIM	143500 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	UDP-glucuronosyltransferase 1-1
ExPASy	2.4.1.17; 2.4.1.95
Gene locus	2q37.1
ICD
Summary	rare autosomal recessive mutation in the UDP-glucuronosyltransferase gene (UGT1A1)
Laboratory findings	Bilirubin inc (serum)
Symptoms	hyperbilirubinemia