Annular pancreas
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 6 |
| OrphanetNr: | 675 |
| OMIM Id: |
167750
|
| ICD-10: |
Q45.1 |
| UMLs: |
C0149955 |
| MeSH: |
C536376 |
| MedDRA: |
|
| Snomed: |
40315008 |
Prevalence, inheritance and age of onset:
| Prevalence: | 1.8 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal dominant Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nonsyndromic visceral malformation
-Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
|
|
(HPO:0001734) | Annular pancreas | 10 / 7739 | ||||
|
|
(HPO:0012090) | Abnormality of pancreas morphology | Very frequent [Orphanet] | 31 / 7739 | |||
|
|
(HPO:0002592) | Gastric ulcer | Frequent [Orphanet] | 39 / 7739 | |||
|
|
(HPO:0100867) | Duodenal stenosis | Very frequent [Orphanet] | 29 / 7739 | |||
|
|
(HPO:0005250) | High intestinal obstruction | 1 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Jackson and Apostolides (1978) described a family in which the mother and 3 of her 4 children had annular pancreas causing duodenal stenosis. In all 4, symptoms of high intestinal obstruction developed early in life and necessitated gastrojejunostomy ... |