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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

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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.