DUBIN-JOHNSON SYNDROME (DJS)

Question 1

What is  DUBIN-JOHNSON SYNDROME (DJS)?

Accepted Answer

rare

autosomal recessive

mutation in the CMOAT gene (ABCC2)

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 237500

Question 3

Which enzymes are involved?

Accepted Answer

Canalicular multispecific organic anion transporter 1

Disease	DUBIN-JOHNSON SYNDROME (DJS)
OMIM	237500 OMIM = Online Mendelian Inheritance of Men
Orphanet	234
Protein (UniProt)	Canalicular multispecific organic anion transporter 1
Gene locus	10q24.2
ICD	E80.6
Summary	rare autosomal recessive mutation in the CMOAT gene (ABCC2)
Laboratory findings	Bilirubin, conjugated normal/inc (serum)
Symptoms	cholestasis jaundice no clinical symptoms (probably) onset, adolescent onset, childhood