Details of Disease

General Information of Disease (ID: DISBISW8)

• Disease Name: NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction
• Definition: 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.
• Disease Hierarchy:
  DISRGY2N: Endocrine disease
  DIS6SVEE: Syndromic disease
  DISYKSRF: Genetic disease
  DISBISW8: NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NKX2-1	OTCMEJTA	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.