Primary biliary cirrhosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Hanot syndrome |
| Number of Symptoms | 2 |
| OrphanetNr: | 186 |
| OMIM Id: |
109720
613007 613008 614220 614221 |
| ICD-10: |
K74.3 |
| UMLs: |
C0008312 C0859942 |
| MeSH: |
|
| MedDRA: |
10004661 10019137 |
| Snomed: |
31712002 |
Prevalence, inheritance and age of onset:
| Prevalence: | 13.5 of 100 000 [Orphanet] |
| Inheritance: |
Unknown [Orphanet] |
| Age of onset: |
Adolescent Adult Elderly [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare biliary tract disease
-Rare hepatic disease |
Symptom Information:
|
|
(HPO:0002613) | Biliary cirrhosis | 11 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|