Aorta coarctation
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 4 |
| OrphanetNr: | 1457 |
| OMIM Id: |
120000
|
| ICD-10: |
Q25.1 |
| UMLs: |
C0003492 |
| MeSH: |
C531623 D001017 |
| MedDRA: |
10009807 |
| Snomed: |
7305005 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
|
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Aortic malformation
-Rare developmental defect during embryogenesis |
Symptom Information:
|
|
(HPO:0004383) | Hypoplastic left heart | 29 / 7739 | ||||
|
|
(HPO:0001680) | Coarctation of aorta | 57 / 7739 | ||||
|
|
(HPO:0030680) | Abnormality of cardiovascular system morphology | 355 / 7739 | ||||
|
|
(OMIM) | Narrow aortic isthmus | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|