ORPHA:3111
Rotor syndrome
Synonyms: Hyperbilirubinemia, Rotor type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare inherited metabolic liver disease characterized by benign, chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Rotor syndrome | Hyperbilirubinemia, Rotor type |
| fr | Syndrome de Rotor | Hyperbilirubinémie type Rotor |
| de | Rotor-Syndrom | Hyperbilirubinämie Typ Rotor |
| es | Síndrome de Rotor | |
| it | Sindrome di Rotor | Iperbilirubinemia, tipo Rotor |
| nl | Syndroom van Rotor | Hyperbilirubinemie, Rotor-type |
| pt | Síndrome Rotor | Hiperbilirrubinemia, tipo Rotor |
| pl | Zespół Rotora | Hiperbilirubinemia, typu Rotora |
| cs | Rotorův syndrom | Dědičná hyperbilirubinémie, Rotorův typ |
| uk | Синдром Ротора | Гіпербілірубінемія, тип Ротора |
| zh | 罗托综合征 | 高胆红素血症，Rotor型 |
| tr | Rotor sendromu | Hiperbilirubinemi, Rotor tipi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 237450 | E | validated | |
| ICD-10 | E80.6 | NTBT | attributed | validated |
| ICD-11 | 5C58.0Y | NTBT | index | validated |
| MONDO | 0009379 | E | validated | |
| UMLS | C0220991 | E | validated | |
| GARD | 218 | E | validated | |
| MedDRA | 10039234 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLCO1B1 | Disease-causing germline mutation(s) in | Assessed | HGNC:10959 | ENSG00000134538 | 604843 | 12p12.1 | solute carrier organic anion transporter family member 1B1 | 22232210[PMID]_23236639[PMID] |
| SLCO1B3 | Disease-causing germline mutation(s) in | Assessed | HGNC:10961 | ENSG00000111700 | 605495 | 12p12.2 | solute carrier organic anion transporter family member 1B3 | 22232210[PMID]_23236639[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
10 annotations · validated 2020-04-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0002908 | Conjugated hyperbilirubinemia | |
| HP:0000952 | Jaundice | |
| Frequent (79-30%) | ||
| HP:0031811 | Bilirubinuria | |
| HP:0002904 | Hyperbilirubinemia | |
| HP:0010473 | Porphyrinuria | |
| Occasional (29-5%) | ||
| HP:0032106 | Conjunctival icterus | |
| HP:0001046 | Intermittent jaundice | |
| Excluded (0%) | ||
| HP:0000989 | Pruritus | |
| HP:0031137 | Storage in hepatocytes | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 26595536[PMID]_20955959[PMID]_22232210[PMID]_23236639[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3111
- This record as JSON: /data/d/3111.json