PANCREATITIS, SCLEROSING CHOLANGITIS, AND SICCA COMPLEX

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 16
OrphanetNr:
OMIM Id: 260480
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000217) Xerostomia 35 / 7739
2
 (HPO:0100825) Cheilitis 20 / 7739
3
 (HPO:0001097) Keratoconjunctivitis sicca 25 / 7739
4
 (HPO:0000505) Visual impairment 297 / 7739
5
 (HPO:0007663) Reduced visual acuity 100 / 7739
6
 (HPO:0001733) Pancreatitis 46 / 7739
7
 (HPO:0000952) Jaundice 105 / 7739
8
 (HPO:0002240) Hepatomegaly 467 / 7739
9
 (HPO:0000989) Pruritus 111 / 7739
10
 (HPO:0000992) Cutaneous photosensitivity 75 / 7739
11
 (OMIM) Sclerosing cholangitis 2 / 7739
12
 (OMIM) Leukocyte-migration inhibited by bile antigen 1 / 7739
13
 (HPO:0030318) Angular cheilitis 2 / 7739
14
 (OMIM) Eye fatigue 1 / 7739
15
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
16
 (OMIM) HLA-DRw52a antigen 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: