Duodenal atresia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 6 |
| OrphanetNr: | 1203 |
| OMIM Id: |
223400
|
| ICD-10: |
Q41.0 |
| UMLs: |
C0266174 |
| MeSH: |
C535720 |
| MedDRA: |
10013812 |
| Snomed: |
51118003 |
Prevalence, inheritance and age of onset:
| Prevalence: | 9 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Antenatal Neonatal Infancy Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nonsyndromic gastroduodenal malformation
-Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
|
|
(HPO:0001561) | Polyhydramnios | Very frequent [Orphanet] | 191 / 7739 | |||
|
|
(HPO:0002247) | Duodenal atresia | 13 / 7739 | ||||
|
|
(HPO:0100867) | Duodenal stenosis | Very frequent [Orphanet] | 29 / 7739 | |||
|
|
(HPO:0012090) | Abnormality of pancreas morphology | Occasional [Orphanet] | 31 / 7739 | |||
|
|
(HPO:0004414) | Abnormality of the pulmonary artery | Occasional [Orphanet] | 50 / 7739 | |||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|