Aortic arch defects
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 7 |
| OrphanetNr: | 1132 |
| OMIM Id: |
|
| ICD-10: |
Q25.4 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Congenital great vessels anomaly
-Rare developmental defect during embryogenesis Respiratory malformation -Rare respiratory disease Syndromic respiratory or mediastinal malformation -Rare developmental defect during embryogenesis -Rare surgical thoracic disease |
Symptom Information:
|
|
(HPO:0002015) | Dysphagia | Occasional [Orphanet] | 301 / 7739 | |||
|
|
(HPO:0012303) | Abnormality of the aortic arch | Very frequent [Orphanet] | 57 / 7739 | |||
|
|
(HPO:0003220) | Abnormality of chromosome stability | Occasional [Orphanet] | 98 / 7739 | |||
|
|
(HPO:0002104) | Apnea | Frequent [Orphanet] | 106 / 7739 | |||
|
|
(HPO:0002099) | Asthma | Occasional [Orphanet] | 62 / 7739 | |||
|
|
(HPO:0002205) | Recurrent respiratory infections | Occasional [Orphanet] | 254 / 7739 | |||
|
|
(HPO:0002093) | Respiratory insufficiency | Frequent [Orphanet] | 410 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|