Primary sclerosing cholangitis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PSC |
| Number of Symptoms | 6 |
| OrphanetNr: | 171 |
| OMIM Id: |
602114
613806 |
| ICD-10: |
K83.0 |
| UMLs: |
C0566602 |
| MeSH: |
C536419 |
| MedDRA: |
10036732 |
| Snomed: |
197441003 |
Prevalence, inheritance and age of onset:
| Prevalence: | 11 of 100 000 [Orphanet] |
| Inheritance: |
Multifactorial [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare biliary tract disease
-Rare hepatic disease |
Symptom Information:
|
|
(HPO:0001969) | Tubulointerstitial abnormality | 15 / 7739 | ||||
|
|
(HPO:0000112) | Nephropathy | 92 / 7739 | ||||
|
|
(HPO:0012622) | Chronic kidney disease | 32 / 7739 | ||||
|
|
(HPO:0002910) | Elevated hepatic transaminases | 158 / 7739 | ||||
|
|
(HPO:0002611) | Cholestatic liver disease | 19 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|