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Dubin-Johnson syndrome
1 OMIM reference -
1 associated gene
15 connected diseases
10 signs/symptoms
Disease Type of connection
Isolated NADH-CoQ reductase deficiency
Leigh syndrome with leukodystrophy
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Autosomal recessive primary microcephaly
Monosomy 22q13
Premature chromosome condensation with microcephaly and intellectual deficit
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Autosomal recessive distal renal tubular acidosis with deafness
Autosomal recessive malignant osteopetrosis
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Lethal acantholytic epidermolysis bullosa
Naxos disease
Precursor T-cell acute lymphoblastic leukemia
Synonym(s):
- Dubin-Sprinz disease
- Hyperbilirubinemia type 2
- Sprinz-Nelson syndrome
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D007566
Gene symbol UniProt reference OMIM reference
ABCC2 Q92887601107
Very frequent
- Abnormal colour of the urine / cholic / dark urines
- Autosomal recessive inheritance
- Hepatitis / icterus / cholestasis
- Structural anomalies of the liver and the biliary tract

Frequent
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis

Occasional
- Acute abdominal pain / colic
- Asthenia / fatigue / weakness
- Clotting / hemostasis disorders
- Fever / chilling
- Hepatomegaly / liver enlargement (excluding storage disease)