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Benign familial chorea
2 OMIM references -
1 associated gene
22 connected diseases
2 signs/symptoms
Disease Type of connection
Athyreosis
Thyroid hypoplasia
Brain-lung-thyroid syndrome
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):
- Hereditary benign chorea
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
NKX2-1 P43699600635
Very frequent
- Abnormal gait
- Movement disorder