Atrial septal defect, sinus venosus type

General Information (adopted from Orphanet):

Synonyms, Signs: ASD8
ASD, sinus venosus type
Number of Symptoms 5
OrphanetNr: 99105
OMIM Id: 614433
ICD-10: Q21.1
UMLs: C0344730
MeSH: C548009
MedDRA:
Snomed: 95268002

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: Interauricular communication
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0001631) Atria septal defect 274 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
3
(OMIM) [DEL] Atrial septal defect, secundum type 7 / 7739
4
(OMIM) Atrial septal defect, sinus venosus type (in some patients) 1 / 7739
5
(OMIM) Abnormal pulmonary venous return to right atria (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Sperling et al. (2005) screened a cohort of 392 patients with congenital heart defects and 192 controls for mutations in the CITED2 gene and identified a 27-bp insertion (602937.0002) in a patient with a secundum atrial septal defect, ...