Caroli syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare genetic hepatic disease characterized by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis, and cholecystolithiasis. Portal hypertension may appear later in the disease course, and the risk of developing cholangiocarcinoma is increased significantly. The syndrome is often associated with autosomal recessive polycystic kidney disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Caroli syndrome | |
| fr | Syndrome de Caroli | |
| de | Caroli-Syndrom | |
| es | Síndrome de Caroli | |
| it | Sindrome di Caroli | |
| nl | Syndroom van Caroli | |
| pt | Síndrome Caroli | |
| pl | Zespół Caroliego | |
| cs | Caroliho syndrom | |
| uk | Синдром Каролі | |
| zh | 卡罗利综合征/先天性肝内胆管扩张症 | |
| tr | Caroli sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q44.6 | NTBT | attributed | validated |
| ICD-11 | LB20.00 | NTBT | attributed | validated |
| MONDO | 0018808 | E | validated | |
| UMLS | C5848202 | 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 (3):
- ORPHA:156607Genetic biliary tract disease
rare genetic diseases - ORPHA:101941Rare biliary tract disease
rare hepatic diseases - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_17461493[PMID] |
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
36 annotations · validated 2021-05-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011040 | Abnormality of the intrahepatic bile duct | |
| HP:0001406 | Intrahepatic cholestasis | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0032545 | Abdominal rigidity | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0025143 | Chills | |
| HP:0030151 | Cholangitis | |
| HP:0002908 | Conjugated hyperbilirubinemia | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0001945 | Fever | |
| HP:0002240 | Hepatomegaly | |
| HP:0002904 | Hyperbilirubinemia | |
| HP:0000952 | Jaundice | |
| Occasional (29-5%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0100889 | Abnormality of the ductus choledochus | |
| HP:0030153 | Cholangiocarcinoma | |
| HP:0001394 | Cirrhosis | |
| HP:0002612 | Congenital hepatic fibrosis | |
| HP:0032106 | Conjunctival icterus | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| HP:0002040 | Esophageal varix | |
| HP:0002248 | Hematemesis | |
| HP:0001399 | Hepatic failure | |
| HP:0001971 | Hypersplenism | |
| HP:0001974 | Increased total leukocyte count | |
| HP:0001882 | Leukopenia | |
| HP:0100523 | Liver abscess | |
| HP:0002249 | Melena | |
| HP:0001733 | Pancreatitis | |
| HP:0000113 | Polycystic kidney dysplasia | |
| HP:0001409 | Portal hypertension | |
| HP:0000989 | Pruritus | |
| HP:0100806 | Sepsis | |
| HP:0001873 | Thrombocytopenia | |
| Excluded (0%) | ||
| HP:0001405 | Periportal fibrosis | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 17461493[PMID]_30020679[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/480520
- This record as JSON: /data/d/480520.json