Caroli disease
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 14 |
| OrphanetNr: | 53035 |
| OMIM Id: |
600643
|
| ICD-10: |
Q44.6 |
| UMLs: |
C0162510 C1833541 |
| MeSH: |
C531647 D016767 |
| MedDRA: |
10013003 |
| Snomed: |
111331000 |
Prevalence, inheritance and age of onset:
| Prevalence: | < 250 cases [Orphanet] |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nonsyndromic visceral malformation
-Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease Rare biliary tract disease -Rare hepatic disease |
Symptom Information:
|
|
(HPO:0002013) | Vomiting | 191 / 7739 | ||||
|
|
(HPO:0002588) | Duodenal ulcer | 15 / 7739 | ||||
|
|
(HPO:0002240) | Hepatomegaly | 467 / 7739 | ||||
|
|
(HPO:0001409) | Portal hypertension | 39 / 7739 | ||||
|
|
(HPO:0100523) | Liver abscess | 4 / 7739 | ||||
|
|
(HPO:0002040) | Esophageal varix | 23 / 7739 | ||||
|
|
(HPO:0005263) | Gastritis | 9 / 7739 | ||||
|
|
(HPO:0002592) | Gastric ulcer | 39 / 7739 | ||||
|
|
(HPO:0001945) | Fever | 218 / 7739 | ||||
|
|
(MedDRA:10008604) | Cholangitis | 6 / 7739 | ||||
|
|
(HPO:0030151) | Cholangitis | 10 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(OMIM) | Bleeding esophageal varices | 1 / 7739 | ||||
|
|
(OMIM) | Congenital polycystic dilatation of intrahepatic bile ducts | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|