NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction

MONDO:0100520

The NKX2-1 gene is located on chromosome 14 at 14q13.3 and encodes the NK2 homeobox 1 protein, a transcription factor that binds and activates thyroid specific genes. NKX2-1 was first reported in relation to autosomal dominant NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction in 1998.

1 clinical trial for this condition and its sub-types, 0 tagged with NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction itself.

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↑ Hereditary disease (18235) ↑ Endocrine system disorder (12512) ↑ Syndromic disease (7158)

Sub-types of NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction

Thyroid cancer, nonmedullary, 1 1 trial
Brain-lung-thyroid syndrome 0 trials
Hereditary progressive chorea without dementia 0 trials

Including sub-types (1) Tagged with NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (0)

Trials to join now! 1

Scientists hunt for thyroid cancer genes in families

Knowledge-focused Recruiting now

This study looks at families where non-medullary thyroid cancer runs in the family. Researchers want to learn how the disease develops, find genes that might increase risk, and figure out the best way to screen for it early. Participants will have exams, imaging, and blood tests,…

Sponsor: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) • Aim: Knowledge-focused

Last updated Sep 10, 2026 00:00 UTC

NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction

Where it sits in the disease tree

Scientists hunt for thyroid cancer genes in families