Benign recurrent intrahepatic cholestasis
diseaseOn this page
Also known as BRICcholestasis, benign recurrent intrahepaticSummerskill-Walshe-Tygstrup syndrome
Summary
Benign recurrent intrahepatic cholestasis (MONDO:0019008) is a disease. A subtype of familial intrahepatic cholestasis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Worldwide)
- Phenotypes (HPO): 16
Clinical features
Signs & symptoms
Clinical features (HPO)
16 HPO clinical features (Orphanet curated; top 16 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000952 | Jaundice | Very frequent (80-99%) |
| HP:0000989 | Pruritus | Very frequent (80-99%) |
| HP:0001824 | Weight loss | Very frequent (80-99%) |
| HP:0002039 | Anorexia | Very frequent (80-99%) |
| HP:0002611 | Cholestatic liver disease | Very frequent (80-99%) |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | Very frequent (80-99%) |
| HP:0011985 | Acholic stools | Very frequent (80-99%) |
| HP:0012378 | Fatigue | Very frequent (80-99%) |
| HP:0002017 | Nausea and vomiting | Frequent (30-79%) |
| HP:0000365 | Hearing impairment | Occasional (5-29%) |
| HP:0001081 | Cholelithiasis | Occasional (5-29%) |
| HP:0001394 | Cirrhosis | Occasional (5-29%) |
| HP:0001402 | Hepatocellular carcinoma | Occasional (5-29%) |
| HP:0001733 | Pancreatitis | Occasional (5-29%) |
| HP:0002027 | Abdominal pain | Occasional (5-29%) |
| HP:0002028 | Chronic diarrhea | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | benign recurrent intrahepatic cholestasis |
| Mondo ID | MONDO:0019008 |
| OMIM | 243300 |
| Orphanet | 65682 |
| DOID | DOID:0070230 |
| ICD-11 | 288945286 |
| SNOMED CT | 31155007 |
| UMLS | C0149841 |
| MedGen | 57703 |
| GARD | 0012185 |
| Is cancer (heuristic) | no |
Also known as: BRIC · Bric · cholestasis, benign recurrent intrahepatic · Summerskill-Walshe-Tygstrup syndrome
Disease family
This is a subtype of familial intrahepatic cholestasis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › digestive system disorder › hepatobiliary disorder › liver disorder › familial intrahepatic cholestasis › benign recurrent intrahepatic cholestasis
Related subtypes (3): cholestasis, intrahepatic, of pregnancy, 1, cholestasis, intrahepatic, of pregnancy, 3, progressive familial intrahepatic cholestasis
Subtypes (2): benign recurrent intrahepatic cholestasis type 1, benign recurrent intrahepatic cholestasis type 2
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.