HYPERBILIRUBINEMIA, ROTOR TYPE (HBLRR)

Question 1

What is  HYPERBILIRUBINEMIA, ROTOR TYPE (HBLRR)?

Accepted Answer

rare

digenic recessive

mutations in the SLCO1B1 (604843) and SLCO1B3 (605495) genes

Rotor syndrome is a benign disease with no effect on life expectancy [Kumar A 2020]

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 237450

Question 3

Which enzymes are involved?

Accepted Answer

Solute carrier organic anion transporter family member 1B3, 1B1

Disease	HYPERBILIRUBINEMIA, ROTOR TYPE (HBLRR)
OMIM	237450 OMIM = Online Mendelian Inheritance of Men
Orphanet	3111
Protein (UniProt)	Solute carrier organic anion transporter family member 1B3, 1B1
Gene locus	12p12.1, 12p12.2
ICD	E80.6
Summary	rare digenic recessive mutations in the SLCO1B1 (604843) and SLCO1B3 (605495) genes Rotor syndrome is a benign disease with no effect on life expectancy [Kumar A 2020]
Laboratory findings	Bilirubin, conjugated inc (serum) Coproporphyrin I inc (urine)
Symptoms	jaundice onset, childhood onset, infancy