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Atrial septal defect, sinus venosus type
1 OMIM reference -
1 associated gene
17 connected diseases
No signs/symptoms info
Disease Type of connection
Atrial septal defect, ostium secundum type
Single ventricular septal defect
Situs inversus totalis
Tetralogy of Fallot
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Branchio-oculo-facial syndrome
Char syndrome
Spinocerebellar ataxia type 17
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Hyperinsulinism due to HNF4A deficiency
MODY syndrome
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Non-acquired combined pituitary hormone deficiency with spine abnormalities
Synonym(s):
- ASD, sinus venosus type
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare surgical cardiac disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: C548009
Gene symbol UniProt reference OMIM reference
CITED2 Q99967602937
No signs/symptoms info available.