BILIARY CIRRHOSIS, PRIMARY, 1

General Information (adopted from Orphanet):

Synonyms, Signs: PBC1
PBC
Number of Symptoms 2
OrphanetNr:
OMIM Id: 109720
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002613) Biliary cirrhosis 11 / 7739
2
(OMIM) Impaired in vitro IgG suppression 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Primary biliary cirrhosis (PBC) is a chronic, progressive cholestatic liver disease that usually affects middle-aged women and eventually leads to liver failure (Kaplan, 1996).

See also Reynolds syndrome (613471), in which primary biliary cirrhosis is a ...

Clinical Description OMIM Jaup and Zettergen (1980) studied familial incidence of primary biliary cirrhosis. In the study of patients with PBC and their relatives, Miller et al. (1983) used a method based on the finding that the in vitro addition of ...