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Single ventricular septal defect
4 associated genes
56 connected diseases
No signs/symptoms info
Disease Type of connection
Tetralogy of Fallot
Atrial septal defect, ostium secundum type
Familial atrial fibrillation
46,XY partial gonadal dysgenesis
8p23.1 microdeletion syndrome
Athyreosis
Atrial septal defect - atrioventricular conduction defects
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Complete atrioventricular canal - ventricle hypoplasia
Familial isolated congenital asplenia
Familial progressive cardiac conduction defect
Hypoplastic left heart syndrome
Partial atrioventricular canal
Thyroid hypoplasia
Atrial septal defect, sinus venosus type
Situs inversus totalis
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Holt-Oram syndrome
Kabuki syndrome
MODY syndrome
Congenital diaphragmatic hernia
Branchio-oculo-facial syndrome
Char syndrome
46,XX gonadal dysgenesis
46,XY complete gonadal dysgenesis
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
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Distal 22q11.2 microdeletion syndrome
Hyperinsulinism due to HNF1A deficiency
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Non-acquired combined pituitary hormone deficiency with spine abnormalities
17q11 microdeletion syndrome
Familial pancreatic carcinoma
Frontonasal dysplasia with alopecia and genital anomaly
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Isolated scaphocephaly
Myhre syndrome
Parietal foramina
Potocki-Shaffer syndrome
Weaver syndrome
17q23.1q23.2 microdeletion syndrome
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
5q14.3 microdeletion syndrome
Berardinelli-Seip congenital lipodystrophy
Synonym(s):
(no synonyms)
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:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
CITED2 Q99967602937
GATA4 P43694600576
GATA5 Q9BWX5611496
NKX2-5 P52952600584
No signs/symptoms info available.