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Summary
DUBIN-JOHNSON SYNDROME (DJS)
237500
OMIM = Online Medalian Inheritance of Men
234
10q24.2
rare
autosomal recessive
mutation in the CMOAT gene (ABCC2)
symptoms
cholestasis
jaundice
no consistent clinical signs or symptoms
onset, adolescent
onset, childhood
laboratory finding
Bilirubin, conjugated +€mol/lserum
Literature
Arends M,et al.Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort studyJ Inherit Metab Dis411141-1492018
Schwartz IVD,et al.Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome SurveyMol Genet Metab Rep14073-792017
Yuzyuk T,et al.Biochemical changes and clinical outcomes in 34 patients with classic galactosemiaJ Inherit Metab Dis412197-2082018
Sondheimer N,et al.Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiencyMol Genet Metab Rep12023-272017