CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
|
|
Number of Symptoms
|
3
|
|
OrphanetNr:
|
|
|
OMIM Id:
|
615878
|
|
ICD-10:
|
|
|
UMLs:
|
|
|
MeSH:
|
|
|
MedDRA:
|
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
|
Prevalence:
|
No data available.
|
|
Inheritance:
|
|
|
Age of onset:
|
|
Disease classification (adopted from Orphanet):
|
Parent Diseases:
|
No data available.
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0001409)
|
Portal hypertension |
|
|
|
|
39 / 7739
|
|
2
|
(HPO:0001406)
|
Intrahepatic cholestasis |
|
|
|
|
16 / 7739
|
|
3
|
(HPO:0001399)
|
Hepatic failure |
|
|
|
|
80 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |