Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 13/02/2008

Symbol	DJS
Location	10q24.2
Name	Dubin-Johnson syndrome
Other name(s)	hyperbilirubinemia II
Corresponding gene	ABCC2
Main clinical features	hyperbilirubinemia, deposition of melanin-like pigment in otherwise normal liver cells, in some cases hepatomegaly and abdominal pain, prolonged retention of sulfobromophthalein, increased excretion of coproporphyrin I, and lysosomal accumulation of black pigment in liver urinary coproporphyrin I is a good indicator of the homozygote and heterozygote states in the Dubin-Johnson syndrome
Genetic determination	autosomal recessive
Function/system disorder	digestive tract/liver and annex
Type	disease

Gene product

Name	canalicular multispecific organic anion transporter (ABCC2)

Remark(s)

mutations involving one of the two ATP-binding cassettes (ABC) of the MRP2, have neonatal DJS