PANCREATIC INSUFFICIENCY, COMBINED EXOCRINE
General Information (adopted from Orphanet):
Synonyms, Signs:
|
|
Number of Symptoms
|
7
|
OrphanetNr:
|
|
OMIM Id:
|
260450
|
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.
|
|
|
|
|
|
|
|
|
1
|
(HPO:0001738)
|
Exocrine pancreatic insufficiency |
|
|
|
|
23 / 7739
|
2
|
(HPO:0002023)
|
Anal atresia |
|
|
|
|
135 / 7739
|
3
|
(HPO:0001635)
|
Congestive heart failure |
|
|
|
|
232 / 7739
|
4
|
(HPO:0012050)
|
Anasarca |
|
|
|
|
4 / 7739
|
5
|
(HPO:0003075)
|
Hypoproteinemia |
|
|
|
|
27 / 7739
|
6
|
(OMIM)
|
Absent trypsin, chymotrypsin, carboxypeptidase, and lipase activity |
|
|
|
|
1 / 7739
|
7
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
ClinVar (via SNiPA)
Gene symbol |
Variation |
Clinical significance |
Reference |