ORPHA:234
Dubin-Johnson syndrome
Synonyms: Dubin-Sprinz disease · Hyperbilirubinemia type 2 · Sprinz-Nelson syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
A rare metabolic liver disease characterized clinically by a benign, chronic, predominantly conjugated hyperbilirubinemia, and histopathologically by black-brown pigment deposition in parenchymal liver cells.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dubin-Johnson syndrome | Dubin-Sprinz disease · Hyperbilirubinemia type 2 · Sprinz-Nelson syndrome |
| fr | Syndrome de Dubin-Johnson | Hyperbilirubinémie type 2 · Maladie de Dubin-Sprinz · Syndrome de Sprinz-Nelson |
| de | Dubin-Johnson-Syndrom | Hyperbilirubinämie Typ 2 |
| es | Síndrome de Dubin-Johnson | |
| it | Sindrome di Dubin-Johnson | Iperbilirubinemia, tipo 2 |
| nl | Syndroom van Dubin-Johnson | Hyperbilirubinemie type 2 · Syndroom van Sprinz-Nelson · Ziekte van Dubin-Sprinz |
| pt | Síndrome Dubin-Johnson | Hiperbilirrubinemia tipo 2 |
| pl | Zespół Dubina i Johnsona | Choroba Dubina i Sprinza · Hiperbilirubinemia typu 2 · Zespół Sprinza i Nelsona |
| cs | Dubinův-Johnsonův syndrom | Dubinova-Sprinzova nemoc · Hyperbilirubinémie, typ 2 · Sprinzův-Nelsonův syndrom · Dubin-Johnsonův syndrom · Dubin-Sprinzova nemoc · Sprinz-Nelsonův syndrom |
| uk | Синдром Дубіна-Джонсона | Хвороба Дубіна-Шпрінца · Гіпербілірубінемія 2 типу · Синдром Шпрінца-Нельсона |
| zh | Dubin-Johnson综合征 | 2型高胆红素血症 |
| tr | Dubin-Johnson sendromu | Dubin-Sprinz hastalığı · Sprinz-Nelson sendromu · Hiperbilirubinemi tip 2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 237500 | E | validated | |
| ICD-10 | E80.6 | NTBT | attributed | validated |
| ICD-11 | 5C58.02 | E | specific | validated |
| MONDO | 0009380 | E | validated | |
| MeSH | D007566 | E | validated | |
| UMLS | C0022350 | E | validated | |
| GARD | 2793 | E | validated | |
| MedDRA | 10013800 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:309816Disorder of bilirubin metabolism and excretion
rare inborn errors of metabolism; rare genetic diseases - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABCC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:53 | ENSG00000023839 | 601107 | 10q24.2 | ATP binding cassette subfamily C member 2 |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012086 | Abnormal urinary color | |
| HP:0001392 | Abnormality of the liver | |
| HP:0001080 | Biliary tract abnormality | |
| HP:0002908 | Conjugated hyperbilirubinemia | |
| HP:0000952 | Jaundice | |
| Frequent (79-30%) | ||
| HP:0004295 | Abnormality of the gastric mucosa | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001928 | Abnormality of coagulation | |
| HP:0012378 | Fatigue | |
| HP:0001945 | Fever | |
| HP:0002240 | Hepatomegaly | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/234
- This record as JSON: /data/d/234.json