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Disease Profile
Brain-lung-thyroid syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000
Age of onset
Infancy
ICD-10
E03.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction; Choreoathetosis-hypothyroidism-neonatal respiratory distress; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome;
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Lung Diseases;
Summary
Brain-lung-thyroid
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]
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 30%-79% of people have these symptoms | ||
| 0001251 | ||
| Choreoathetosis | 0001266 | |
|
Underactive thyroid gland from birth
|
0000851 | |
| Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
| Neonatal respiratory distress |
Infantile respiratory distress
Newborn respiratory distress
Respiratory distress, neonatal
[ more ] |
0002643 |
| Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ] |
0002098 |
| 5%-29% of people have these symptoms | ||
| Abnormal cardiac septum morphology | 0001671 | |
| Apraxia | 0002186 | |
| Asthma | 0002099 | |
| Clumsiness | 0002312 | |
| Compensated hypothyroidism | 0008223 | |
|
Difficulty articulating speech
|
0001260 | |
| 0001332 | ||
| Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
| Global |
0001263 | |
| Increased thyroid-stimulating |
0002925 | |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | |
| Intention tremor | 0002080 | |
| Motor delay | 0001270 | |
| Myoclonus | 0001336 | |
| Pulmonary arterial |
Increased blood pressure in blood vessels of lungs
|
0002092 |
| Recurrent pneumonia | 0006532 | |
| Sensorineural hearing impairment | 0000407 | |
| Sleep disturbance |
Trouble sleeping
Difficulty sleeping
[ more ] |
0002360 |
| Thyroid dysgenesis | 0008188 | |
| Thyroid hemiagenesis | 0011780 | |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| 1%-4% of people have these symptoms | ||
| Abnormal drinking behavior | 0030082 | |
| Abnormal eating behavior | 0100738 | |
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Abnormality of the sella turcica | 0002679 | |
| Agenesis of |
0001274 | |
| Cavum septum pellucidum | 0002389 | |
| Falls | 0002527 | |
| Hyperactivity |
More active than typical
|
0000752 |
| Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
| Hypoparathyroidism |
Decreased parathyroid hormone secretion
|
0000829 |
| Hypospadias | 0000047 | |
| Megacystis | 0000021 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
| Obsessive-compulsive behavior |
Obsessive compulsive behavior
|
0000722 |
| Patent foramen ovale | 0001655 | |
| Pulmonary fibrosis | 0002206 | |
| Respiratory failure | 0002878 | |
| Schizophrenia | 0100753 | |
| Short attention span |
Poor attention span
Problem paying attention
[ more ] |
0000736 |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Unexplained fevers | 0001955 | |
| Vesicoureteral reflux | 0000076 | |
| Webbed neck |
Neck webbing
|
0000465 |
| Percent of people who have these symptoms is not available through HPO | ||
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
| 0000006 | ||
| Congenital onset |
Symptoms present at birth
|
0003577 |
| Difficulty walking |
Difficulty in walking
|
0002355 |
| Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
| Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
Differential diagnoses include other forms of congenital hypothyroidism, other causes of infant respiratory distress syndrome, genetic forms of surfactant protein deficiency, and other causes of chorea.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Children's Interstitial Lung Disease Foundation
6539 Harrison Ave #1045
Cincinnati, OH 45247
E-mail: [email protected]
Website: https://child-foundation.org/ -
The MAGIC Foundation
4200 Cantera Dr. #106
Warrenville, IL 60555
Toll-free: 800-362-4423
Telephone: 630-836-8200
Fax: 630-836-8181
E-mail: [email protected]
Website: https://www.magicfoundation.org/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Genetics Home Reference (GHR) contains information on Brain-lung-thyroid syndrome. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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.
References
- Szinnai G. Brain-lung-thyroid syndrome. Orphanet. April 2011; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=209905.
- Patel NJ, Jankovic J. NKX2-1-Related Disorders. GeneReviews. February 20, 2014; https://www.ncbi.nlm.nih.gov/books/NBK185066/.
- NKX2-1. Genetics Home Reference (GHR). March 7, 2016; https://ghr.nlm.nih.gov/gene/NKX2-1.
- 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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4311306/.
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