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Tetralogy of Fallot
1 OMIM reference -
9 associated genes
86 connected diseases
13 signs/symptoms
Disease Type of connection
Familial atrial fibrillation
Atrial septal defect, ostium secundum type
Single ventricular septal defect
Complete atrioventricular canal - ventricle hypoplasia
Congenital diaphragmatic hernia
46,XY partial gonadal dysgenesis
8p23.1 microdeletion syndrome
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Partial atrioventricular canal
Athyreosis
Thyroid hypoplasia
Hypoplastic left heart syndrome
Atrial septal defect - atrioventricular conduction defects
Familial isolated congenital asplenia
Familial progressive cardiac conduction defect
Alagille syndrome due to 20p12 microdeletion
Alagille syndrome due to a JAG1 point mutation
Atrial septal defect, sinus venosus type
Double outlet right ventricle
Ivemark syndrome
Pancreatic hypoplasia - diabetes - congenital heart disease
Situs inversus totalis
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Holt-Oram syndrome
Kabuki syndrome
MODY syndrome
Acroosteolysis dominant type
Alagille syndrome due to a NOTCH2 point mutation
CADASIL
Infantile myofibromatosis
Branchio-oculo-facial syndrome
Acute basophilic leukemia
Beta-thalassemia - X-linked thrombocytopenia
Char syndrome
Congenital erythropoietic porphyria
Thrombocytopenia with congenital dyserythropoietic anemia
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Atypical hemolytic uremic syndrome with MCP / CD46 anomaly
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
Benign familial chorea
Brain-lung-thyroid syndrome
Papillary or follicular thyroid carcinoma
Hyperinsulinism due to HNF4A deficiency
Aneurysm - osteoarthritis syndrome
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Craniometaphyseal dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Oculodentodigital dysplasia
Syndactyly type 3
Distal 22q11.2 microdeletion syndrome
Hyperinsulinism due to HNF1A deficiency
Hypoparathyroidism - deafness - renal disease
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Non-acquired combined pituitary hormone deficiency with spine abnormalities
Precursor B-cell acute lymphoblastic leukemia
17q11 microdeletion syndrome
Autosomal dominant hyper-IgE syndrome
Essential thrombocythemia
Familial pancreatic carcinoma
Frontonasal dysplasia with alopecia and genital anomaly
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Isolated scaphocephaly
Left ventricular noncompaction
Myelofibrosis with myeloid metaplasia
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
Dowling-Degos disease
Neonatal inflammatory skin and bowel disease
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare surgical cardiac disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D013771
Very frequent
- Autosomal dominant inheritance
- Broad forehead
- Clinodactyly of fifth finger
- Intrauterine growth retardation
- Long / large / bulbous nose
- Short hand / brachydactyly

Frequent
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Dolichocephaly / scaphocephaly
- Flat supraorbital ridge
- Proptosis / exophthalmos
- Tetralogy of Fallot / trilogy of Fallot
- Thin / retracted lips
- Undescended / ectopic testes / cryptorchidia / unfixed testes