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Pancreatic hypoplasia - diabetes - congenital heart disease
1 OMIM reference -
1 associated gene
11 connected diseases
1 sign/symptom
Disease Type of connection
Atrial septal defect, ostium secundum type
Complete atrioventricular canal - ventricle hypoplasia
Congenital diaphragmatic hernia
Familial atrial fibrillation
Tetralogy of Fallot
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Athyreosis
Benign familial chorea
Brain-lung-thyroid syndrome
Papillary or follicular thyroid carcinoma
Thyroid hypoplasia
Synonym(s):
- Yorifuji-Okuno syndrome
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GATA6 Q92908601656
Very frequent
- Stillbirth / neonatal death