Dubin-Johnson syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HYPERBILIRUBINEMIA, DUBIN-JOHNSON TYPE HBLRDJ HYPERBILIRUBINEMIA II DJS Dubin-Sprinz disease Sprinz-Nelson syndrome Hyperbilirubinemia type 2 |
| Number of Symptoms | 20 |
| OrphanetNr: | 234 |
| OMIM Id: |
237500
|
| ICD-10: |
E80.6 |
| UMLs: |
C0022350 |
| MeSH: |
D007566 |
| MedDRA: |
10013800 |
| Snomed: |
44553005 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of bilirubin metabolism and excretion
-Rare genetic disease Metabolic liver disease -Rare genetic disease -Rare hepatic disease |
Symptom Information:
|
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(HPO:0012086) | Abnormal urinary color | Very frequent [Orphanet] | 19 / 7739 | |||
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(HPO:0001080) | Biliary tract abnormality | Very frequent [Orphanet] | 26 / 7739 | |||
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(HPO:0000952) | Jaundice | 105 / 7739 | ||||
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(HPO:0002592) | Gastric ulcer | Frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0001396) | Cholestasis | Very frequent [Orphanet] | 136 / 7739 | |||
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(HPO:0002240) | Hepatomegaly | Occasional [Orphanet] | 467 / 7739 | |||
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(HPO:0002027) | Abdominal pain | Occasional [Orphanet] | 184 / 7739 | |||
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(HPO:0001928) | Abnormality of coagulation | Occasional [Orphanet] | 44 / 7739 | |||
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(HPO:0001945) | Fever | Occasional [Orphanet] | 218 / 7739 | |||
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(HPO:0002908) | Conjugated hyperbilirubinemia | 21 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | Occasional [Orphanet] | 859 / 7739 | |||
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(OMIM) | Normal total urinary coproporphyrin | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Normal serum bile acids | 1 / 7739 | ||||
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(OMIM) | Coarse pigment in centrilobular cells | 1 / 7739 | ||||
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(OMIM) | Nonvisualization of gallbladder (oral cholecystography) | 1 / 7739 | ||||
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(OMIM) | Black liver | 1 / 7739 | ||||
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(OMIM) | Routine liver function tests normal | 1 / 7739 | ||||
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(OMIM) | Characteristic urinary coproporphyrin pattern (mostly isomer I (80%) instead of isomer III) | 1 / 7739 | ||||
|
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(OMIM) | Bromosulfophthalein test - secondary rise at 90 minutes | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Dubin-Johnson syndrome is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, an increase in the urinary excretion of coproporphyrin isomer I, deposition of melanin-like pigment in hepatocytes, and prolonged retention of sulfobromophthalein, but otherwise normal liver function (summary ... |
| Clinical Description OMIM |
Dubin and Johnson (1954) described 12 patients with a distinct entity characterized clinically by 'constitutional hyperbilirubinemia' and histologically by the presence in the liver cells of striking amounts of an amorphous brown pigment. The disorder manifested as a ... |
| Molecular genetics OMIM |
Consistent with findings of defects in the homologous cmoat gene in 2 rat models of hyperbilirubinemia (Paulusma et al., 1996; Ito et al., 1997), Wada et al. (1998) reported 2 deletions and a missense mutation in the active ... |
| Population genetics OMIM | The usefulness of inbred groups for the study of rare recessives is nicely illustrated by this disorder, which occurs with a minimal frequency of 1 per 1,300 among Iranian Jews (Shani et al., 1970). |