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Brain-lung-thyroid syndrome
1 OMIM reference -
1 associated gene
22 connected diseases
No signs/symptoms info
Disease Type of connection
Athyreosis
Thyroid hypoplasia
Benign familial chorea
Papillary or follicular thyroid carcinoma
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
Essential thrombocythemia
Myelofibrosis with myeloid metaplasia
Acute promyelocytic leukemia
Generalized congenital lipodystrophy with myopathy
Anaplastic ependymoma
Atrial septal defect, ostium secundum type
Complete atrioventricular canal - ventricle hypoplasia
Congenital diaphragmatic hernia
Familial atrial fibrillation
Pancreatic hypoplasia - diabetes - congenital heart disease
Tetralogy of Fallot
Chronic myeloid leukemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Distal 22q11.2 microdeletion syndrome
Synonym(s):
- Choreoathetosis - hypothyroidism - neonatal respiratory distress
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
- Rare respiratory disease
Classification (ICD10):
- Certain conditions originating in the perinatal period -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
NKX2-1 P43699600635
No signs/symptoms info available.