ATRIAL SEPTAL DEFECT 6
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ASD6 |
| Number of Symptoms | 6 |
| OrphanetNr: | |
| OMIM Id: |
613087
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
|
|
(HPO:0005110) | Atrial fibrillation | rare [HPO:skoehler] | 71 / 7739 | |||
|
|
(HPO:0001662) | Bradycardia | rare [HPO:skoehler] | 41 / 7739 | |||
|
|
(HPO:0001631) | Atria septal defect | 274 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(OMIM) | Atrial septal defect, type I or II | 1 / 7739 | ||||
|
|
(OMIM) | Aneurysm of interatrial septum (in some patients) | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Molecular genetics OMIM |
Based on data from mouse models of incomplete heart septation associated with inactivation of mouse Tll1, Stanczak et al. (2009) analyzed the candidate gene TLL1 in 19 unrelated patients with atrial septal defect and identified heterozygosity for 3 ... |