Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Dubin-Johnson syndrome

Dubin-Johnson syndrome is an autsomal recessive liver disease characterized by benign hyperbilirubinemia and deleyed degradation of some metabolites.

Systematic

Genetic hyperbilirubinemia
Crigler-Najjar syndrome 1
Crigler-Najjar syndrome 2
Dubin-Johnson syndrome
ABCC2
Familial transient neonatal hyperbilirubinemia
Gilbert syndrome
Rotor type hyperbilirubinemia

References:

1.

None (1993) Dubin-Johnson and Rotor syndromes: molecular basis and pathogenesis.

external link
2.

WOLF RL et al. (1960) Chronic idiopathic jaundice. A study of two afflicted families.

external link
3.

CALDERON A et al. (1961) Chronic idiopathic jaundice. A case report.

external link
4.

BEKER S et al. (1958) Familial DubinJohnson syndrome.

external link
5.

DUBIN IN et al. (1954) Chronic idiopathic jaundice with unidentified pigment in liver cells; a new clinicopathologic entity with a report of 12 cases.

external link
6.

Kartenbeck J et al. (1996) Absence of the canalicular isoform of the MRP gene-encoded conjugate export pump from the hepatocytes in Dubin-Johnson syndrome.

external link
7.

Mayer R et al. (1995) Expression of the MRP gene-encoded conjugate export pump in liver and its selective absence from the canalicular membrane in transport-deficient mutant hepatocytes.

external link
8.

Du JN et al. (1967) Dubin-Johnson syndrome: a family with three affected sisters.

external link
9.

Butt HR et al. (1966) Studies of chronic idiopathic jaundice (Dubin-Johnson syndrome). II. Evaluation of a large family with the trait.

external link
10.

Seligsohn U et al. (1970) Dubin-Johnson syndrome in Israel. II. Association with factor-VII deficiency.

external link
11.

None (1971) Inheritable and congenital hyperbilirubinemia. Models for the study of drug metabolism.

external link
12.

Wolkoff AW et al. (1973) Inheritance of the Dubin-Johnson syndrome.

external link
13.

Swartz HM et al. (1987) Further evidence that the pigment in the Dubin-Johnson syndrome is not melanin.

external link
14.

None (1975) Inheritance of the Dubin-Johnson-Sprinz syndrome.

external link
15.

Nakata F et al. (1979) Dubin-Johnson syndrome in a neonate.

external link
16.

Pacifico L et al. (2010) Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome.

external link
17.

Mor-Cohen R et al. (2001) Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome.

external link
18.

Toh S et al. (1999) Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome.

external link
19.

Kajihara S et al. (1998) A splice mutation in the human canalicular multispecific organic anion transporter gene causes Dubin-Johnson syndrome.

external link
20.

Wada M et al. (1998) Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome.

external link
21.

van Kuijck MA et al. (1997) Assignment of the canalicular multispecific organic anion transporter gene (CMOAT) to human chromosome 10q24 and mouse chromosome 19D2 by fluorescent in situ hybridization.

external link
22.

Ito K et al. (1997) Molecular cloning of canalicular multispecific organic anion transporter defective in EHBR.

external link
23.

Paulusma CC et al. (1996) Congenital jaundice in rats with a mutation in a multidrug resistance-associated protein gene.

external link
24.

Shani M et al. (1970) Dubin-Johnson syndrome in Israel. I. Clinical, laboratory, and genetic aspects of 101 cases.

external link
25.

Orphanet article

Orphanet ID 234 external link
26.

OMIM.ORG article

Omim 237500 external link
27.

Wikipedia article

Wikipedia EN (Dubin–Johnson_syndrome) external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits