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Diseases

Genetic and Rare Diseases Information Center (GARD)

Brain-lung-thyroid syndrome


Other Names for this Disease
  • Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction
  • Choreoathetosis-hypothyroidism-neonatal respiratory distress
  • Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome
  • CAHTP
  • BLT syndrome
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Overview

Brain-lung-thyroid syndrome is a rare movement disorder that begins in infancy with neurological disturbances, hypothyroidism, and respiratory problems.[1][2][3] It is characterized by low muscle tone (hypotonia) which evolves into benign hereditary chorea and ataxia, neonatal respiratory distress syndrome and/or interstitial lung disease, and congenital hypothyroidism.[1][2][3][4] The scope and severity of symptoms varies widely, even within families.[1][2] Treatment may include tetrabenazine and levodopa for chorea and thyroid replacement therapy for hypothyroidism. Respiratory distress symptoms and interstitial lung disease should be treated as needed.[2] Brain-lung-thyroid syndrome is caused by mutations in the NKX2-1 gene. It is passed through families in an autosomal dominant fashion.[1][2][3]

Brain-lung-thyroid syndrome represents the most severe expression of the NKX2-1-related disorders, with benign hereditary chorea at the milder end of the spectrum.[1][2]
Last updated: 3/14/2016

References

  1. Szinnai G. Brain-lung-thyroid syndrome. Orphanet. April 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=209905.
  2. Patel NJ, Jankovic J. NKX2-1-Related Disorders. GeneReviews. February 20, 2014; http://www.ncbi.nlm.nih.gov/books/NBK185066/.
  3. NKX2-1. Genetics Home Reference (GHR). March 7, 2016; https://ghr.nlm.nih.gov/gene/NKX2-1.
  4. de Filippis T, Marelli F, Vigone MC, Di Frenna M, Weber G, Persani L. Novel NKX2-1 Frameshift Mutations in Patients with Atypical Phenotypes of the Brain-Lung-Thyroid Syndrome. Eur Thyroid J. 2014 Dec; 2(4):227-33. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4311306/.
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In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Brain-lung-thyroid syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction
  • Choreoathetosis-hypothyroidism-neonatal respiratory distress
  • Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome
  • CAHTP
  • BLT syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.