Benign recurrent intrahepatic cholestasis
Synonyms: BRIC · Summerskill-Walshe-Tygstrup syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages
- Status
- active
Benign recurrent intrahepatic cholestasis (BRIC) is a hereditary liver disorder characterized by intermittent episodes of intrahepatic cholestasis, generally without progression to chronic liver damage. BRIC is now believed to belong to a clinical spectrum of intrahepatic cholestatic disorders that ranges from the mild intermittent attacks in BRIC to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Benign recurrent intrahepatic cholestasis | BRIC · Summerskill-Walshe-Tygstrup syndrome |
| fr | Cholestase intrahépatique récurrente bénigne | Syndrome de Summerskill-Walshe-Tygstrup |
| de | Cholestase, benigne intrahepatische, rekurrente | BRIC · Summerskill-Walshe-Tygstrup Syndrom |
| es | Colestasis intrahepática recurrente benigna | CIBR · CIRB · Síndrome de Summerskill-Walshe-Tygstrup |
| it | Colestasi intraepatica ricorrente benigna | BRIC · Sindrome di Summerskill-Walshe-Tygstrup |
| nl | Goedaardige recidiverende intrahepatische cholestase | BRIC · Syndroom van Summerskill-Walshe-Tygstrup |
| pt | Colestase intra-hepática recorrente benigna | CIRB · Síndrome de Summerskill-Walshe-Tygstrup |
| pl | Łagodna nawracająca cholestaza wewnątrzwątrobowa | BRIC · Zespół Summerskilla, Walshe'a i Tygstrupa |
| cs | Benigní rekurentní intrahepatální cholestáza | BRIC · Summerskillův-Walsheho-Tygstrupův syndrom · Summerskill-Walshe-Tygstrupův syndrom |
| uk | Доброякісний рецидивуючий внутрішньопечінковий холестаз | BRIC · Синдром Саммерскілла-Уолша-Тігструпа |
| zh | 良性复发性肝内胆汁淤积 | Summerskill-Walshe-Tygstrup综合征 |
| tr | Selim tekrarlayan intrahepatik kolestaz | BRIC · Summerskill-Walshe-Tygstrup sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 243300 | BTNT | validated | |
| OMIM | 605479 | BTNT | validated | |
| ICD-10 | K71.0 | NTBT | attributed | validated |
| ICD-10 | K83.1 | NTBT | attributed | validated |
| ICD-11 | 5C58.04 | E | specific | validated |
| MONDO | 0019008 | E | validated | |
| UMLS | C0149841 | E | validated | |
| GARD | 12185 | E | validated | |
| MedDRA | 10087038 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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:284385Familial intrahepatic cholestasis
rare genetic diseases; rare hepatic diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| ABCB11 | ORPHA:99961Benign recurrent intrahepatic cholestasis type 2 | Disease-causing germline mutation(s) in | Assessed | HGNC:42 | ENSG00000073734 | 603201 | 2q31.1 | ATP binding cassette subfamily B member 11 | |
| ATP8B1 | ORPHA:99960Benign recurrent intrahepatic cholestasis type 1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3706 | ENSG00000081923 | 602397 | 18q21.31 | ATPase phospholipid transporting 8B1 |
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.
HPO phenotypes
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011985 | Acholic stools | |
| HP:0002039 | Anorexia | |
| HP:0002611 | Cholestatic liver disease | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0012378 | Fatigue | |
| HP:0000952 | Jaundice | |
| HP:0000989 | Pruritus | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0002017 | Nausea and vomiting | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001081 | Cholelithiasis | |
| HP:0002028 | Chronic diarrhea | |
| HP:0001394 | Cirrhosis | |
| HP:0000365 | Hearing impairment | |
| HP:0001402 | Hepatocellular carcinoma | |
| HP:0001733 | Pancreatitis | |
Run the differential on the 8 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/65682
- This record as JSON: /data/d/65682.json