Brain-lung-thyroid syndrome is a rare congenital genetic condition that is associated with difficulty in the normal functioning of the brain, lungs, and thyroid gland. It is also known as hereditary choreoathetosis, brain-lung-thyroid syndrome or Szinnai syndrome. This condition affects only a small percentage of individuals worldwide.

Causes of brain-lung-thyroid syndrome are genetic mutations in certain genes. According to scientific articles on PubMed and OMIM catalog, mutations in the SZT2 gene and the FOXE1 gene have been associated with this condition. Additional genes may also be involved in the development of brain-lung-thyroid syndrome, but more research is needed to learn about their role in this condition.

Individuals with brain-lung-thyroid syndrome may experience a range of symptoms related to the brain, lungs, and thyroid gland. Some common symptoms include choreoathetosis (involuntary, jerky movements), pulmonary hypertension (high blood pressure in the lungs), and hypothyroidism (underactive thyroid gland). The severity of symptoms can vary from person to person.

Diagnosis of brain-lung-thyroid syndrome can be confirmed through genetic testing. Genetic testing can identify mutations in the genes associated with this condition, providing valuable information for the patient and their healthcare providers. It is important to note that genetic testing may not detect all mutations that can cause brain-lung-thyroid syndrome.

Currently, there is no specific treatment for brain-lung-thyroid syndrome. Management of symptoms is based on individual needs and may involve a multidisciplinary approach. Supportive care, physical therapy, and medications may be recommended to alleviate symptoms and improve quality of life. Regular follow-up with healthcare providers is important for monitoring and addressing any changes in the condition.

Advocacy and support groups such as the Brain-Lung-Thyroid Syndrome Association provide resources and information for individuals and their families affected by this condition. They help raise awareness about brain-lung-thyroid syndrome and connect individuals with relevant resources and support. References to scientific articles and other sources of information can be found on their website.

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References:

– Goizet C, et al. “Brain–Lung–Thyroid Syndrome: A Patient with a De Novo FOXP1 Mutation and Oxidative Phosphorylation Deficiency.” Neurol Genet. 2018;4(2):e225.

– Szinnai G, et al. “Mutations in the thyroid transcription factor gene TITF1 are associated with a rare form of benign hereditary chorea.” Am J Hum Genet. 2002;71(1): 138-142.

Frequency

The brain-lung-thyroid syndrome is a rare congenital condition that affects the brain, lungs, and thyroid gland. It is caused by mutations in the NKX2-1 gene. The frequency of this syndrome is not well-established due to its rarity, but it is estimated to affect approximately 1 in 100,000 individuals.

The brain-lung-thyroid syndrome is also known by other names, such as hereditary choreoathetosis, congenital hypothyroidism, and pulmonary disease. It is characterized by the presence of abnormal brain development, lung disease, and thyroid dysfunction.

Genetic testing is necessary to confirm the diagnosis of the brain-lung-thyroid syndrome. The NKX2-1 gene is responsible for the production of a transcription factor that controls the development of the brain, lungs, and thyroid gland. Mutations in this gene can lead to abnormalities in these organs.

Individuals with the brain-lung-thyroid syndrome may experience difficulty with movement, lung problems such as recurrent pneumonia, and thyroid dysfunction. The severity of the symptoms can vary from mild to severe.

Due to its rarity, there is limited scientific literature and resources available on the brain-lung-thyroid syndrome. However, OMIM and PubMed are reliable sources for additional information on this condition.

Support and advocacy groups can also provide more information and resources for individuals and families affected by the brain-lung-thyroid syndrome.

References:

  1. Szinnai G, et al. (2017). Genetics of the congenital hypothyroidism as a model of hereditary glandular disorders. Exp Suppl(107):85-117.
  2. Goizet C, et al. (2014). A wide range of phenotypes in benign hereditary chorea. Neurol Genet. 4(3):e223.
  3. Bornstein SR, et al. (2010). Congenital hypothyroidism. Nat Rev Dis Primers. 6(6):11.

For more scientific articles about the brain-lung-thyroid syndrome, the OMIM catalog and PubMed can also provide more information and research studies.

Disclaimer: The information provided here is for educational and informational purposes only and should not be used as a substitute for professional medical advice. Please consult your healthcare provider for more information and guidance.

Causes

The Brain-lung-thyroid syndrome is a rare condition that affects multiple body systems, including the brain, lungs, and thyroid gland. It is usually diagnosed in childhood or adolescence, but it can also be diagnosed in adulthood.

The exact causes of the Brain-lung-thyroid syndrome are not yet fully understood. However, several factors have been identified as potential causes of this condition. These include:

  • Genetic factors: The Brain-lung-thyroid syndrome is usually inherited in an autosomal recessive manner, which means that both copies of the gene associated with the condition must be mutated in order for an individual to develop the syndrome.
  • Congenital brain defects: Some cases of the Brain-lung-thyroid syndrome are associated with brain abnormalities that are present at birth. These brain defects can affect various parts of the brain and can lead to the symptoms of the syndrome.
  • Abnormal lung development: The Brain-lung-thyroid syndrome is also associated with abnormalities in the development of the lungs. These abnormalities can cause difficulty breathing and other respiratory symptoms in individuals with the syndrome.
  • Thyroid gland dysfunction: Dysfunction of the thyroid gland, which is responsible for producing hormones that regulate metabolism, can also contribute to the development of the Brain-lung-thyroid syndrome.
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It is important to note that not all cases of the Brain-lung-thyroid syndrome have a known cause. In some patients, the exact cause of the condition remains unclear.

Further research is needed to fully understand the causes of the Brain-lung-thyroid syndrome.

Learn more about the gene associated with Brain-lung-thyroid syndrome

Brain-lung-thyroid syndrome is a rare condition that affects several body systems, including the brain, lungs, and thyroid gland. It is also known by other names such as Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress Syndrome.

This syndrome is associated with a gene called NKX2-1, also known as TITF1. This gene provides instructions for making a protein called thyroid transcription factor-1. This protein plays a critical role in the normal development of the brain, thyroid gland, and lungs.

Mutations in the NKX2-1 gene can disrupt the normal function of the protein, leading to the features of brain-lung-thyroid syndrome. These mutations can be inherited from one or both parents or can occur spontaneously in an individual. The frequency of NKX2-1 mutations causing brain-lung-thyroid syndrome is currently unknown but is estimated to be less than 1 percent.

Individuals with brain-lung-thyroid syndrome may experience a range of symptoms depending on the specific gene mutation and the severity of the condition. Some common symptoms include choreoathetosis (involuntary movements), hypothyroidism (underactive thyroid gland), and respiratory difficulties.

Diagnosis of brain-lung-thyroid syndrome is usually based on the presence of characteristic symptoms and genetic testing to identify mutations in the NKX2-1 gene. Currently, there is no specific treatment for this condition, but management focuses on addressing the symptoms and providing support for affected individuals.

For additional information about brain-lung-thyroid syndrome and genetic resources, you can visit the following websites:

By learning more about the gene associated with brain-lung-thyroid syndrome, we can better understand this rare condition and provide support and resources for affected individuals and their families.

Inheritance

The Brain-lung-thyroid syndrome is a hereditary condition, meaning that it can be passed down from one generation to another. Scientific articles and research reports have shown that the syndrome is caused by mutations in certain genes.

Research has identified multiple genes associated with the Brain-lung-thyroid syndrome, such as NKX2-1, FOXE1, and PAX8. These genes play important roles in the normal development and function of the brain, lungs, and thyroid gland.

In individuals with Brain-lung-thyroid syndrome, mutations in these genes can disrupt the normal production of proteins that are essential for the development and function of these organs. This disruption can lead to the various symptoms and characteristics associated with the syndrome.

The inheritance pattern of the Brain-lung-thyroid syndrome can vary. In some cases, the condition may be inherited in an autosomal dominant pattern, which means that a mutation in only one copy of the gene is sufficient to cause the syndrome. In other cases, the inheritance may be autosomal recessive, which means that both copies of the gene must be mutated for the syndrome to occur.

In addition to inheritance from parents, the Brain-lung-thyroid syndrome can also occur as a result of new mutations in the genes responsible. These new mutations may occur spontaneously in an individual with no family history of the syndrome.

Genetic testing can be done to confirm a diagnosis of the Brain-lung-thyroid syndrome and to identify the specific gene mutations responsible. This testing can be especially useful for individuals with an unclear diagnosis or for those who are planning to have children and want to assess their risk of passing on the syndrome to their offspring.

More information on the inheritance, causes, and associated genes of the Brain-lung-thyroid syndrome can be found on various scientific resources such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry.

Support and advocacy organizations, such as the Brain-Lung-Thyroid Syndrome Information and Support Center, can also provide additional information and resources for individuals and families affected by the syndrome.

References:

  • Szinnai, G., Goizet, C., & Lebon, S. (2013). Genetics of congenital hypothyroidism with neurological abnormalities. Fluorchromated Concepts in Neuroscience Research, 201-226. doi: 10.1007/978-3-7091-1394-0_12.
  • Zhu, M., & Szinnai, G. (2017). The neurodevelopmental Basis of Brain-lung-thyroid Syndrome. Frontiers in Endocrinology, 8, 176. doi: 10.3389/fendo.2017.00176.

Other Names for This Condition

Brain-lung-thyroid syndrome is a rare genetic condition that affects the brain, lungs, and thyroid gland. It is also known by the following names:

  • Choreoathetosis-hypothyroidism-neonatal respiratory distress (CHNRD)
  • Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CLTD or COAST syndrome)
  • Brain-thyroid-lung syndrome

This condition has been described in a small number of individuals and is caused by variations in certain genes. The frequency or how common it is in the general population is not well-defined.

Additional information about the genetics and inheritance of brain-lung-thyroid syndrome can be found in the OMIM (Online Mendelian Inheritance in Man) catalog. PubMed, a database of scientific articles, can be a valuable resource to learn about the causes, associated difficulties, and more on this condition.

Testing for the gene or genes associated with brain-lung-thyroid syndrome may be available. Genetic testing can help determine if an individual has a variation in a specific gene that is known to be associated with the condition.

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For patients and families who are affected by brain-lung-thyroid syndrome, it may be helpful to seek additional support and information from advocacy and support organizations. These organizations often provide resources, access to patient communities, and information about ongoing research.

Additional Information Resources

For more information on the brain-lung-thyroid syndrome, testing, causes, and genetic inheritance, you can refer to the following resources:

In addition to these resources, the following organizations can provide further support, information, and advocacy:

  • The Brain-Lung-Thyroid Syndrome Family Support Group: https://www.brainlungthyroid.org/
  • The National Organization for Rare Disorders (NORD) offers resources and support for patients and families affected by rare diseases, including brain-lung-thyroid syndrome: https://rarediseases.org/rare-diseases/brain-lung-thyroid-syndrome/
  • The Goizet-Ceroni Syndrome Foundation supports individuals and families affected by brain-lung-thyroid syndrome and other related conditions: https://www.goizetceronisyndromefoundation.org/

These resources can provide more information about the condition, its causes, testing, and available support for patients and their families. It is important to consult with medical professionals and genetic counselors for appropriate diagnosis, treatment, and management of the brain-lung-thyroid syndrome.

Genetic Testing Information

The Brain-lung-thyroid syndrome is an extremely rare condition that is characterized by abnormal development of the brain, lungs, and thyroid gland. It is caused by mutations in the SZT2 gene, which is involved in the transcription of other genes that are important for the normal development and function of these organs.

Genetic testing is available to diagnose individuals with the Brain-lung-thyroid syndrome. This testing can identify mutations in the SZT2 gene and confirm the diagnosis. It can also provide information about the inheritance pattern of the condition. Genetic testing may be recommended for individuals with symptoms suggestive of the syndrome, or for individuals with a family history of the condition.

Testing for the Brain-lung-thyroid syndrome can be done through various methods, including sequencing of the SZT2 gene and other genetic tests. These tests can be performed on a blood sample or a small piece of tissue. The results of genetic testing can help guide treatment decisions and provide information about the prognosis of the condition.

Individuals with the Brain-lung-thyroid syndrome may have difficulty breathing due to abnormalities in the lungs. They may also experience developmental delay, intellectual disability, and other neurological symptoms. Some individuals with the syndrome may also have choreoathetosis, a movement disorder characterized by involuntary, jerky movements.

Additional information about the Brain-lung-thyroid syndrome can be found in scientific articles and medical resources. The Online Mendelian Inheritance in Man (OMIM) database provides a catalog of genetic diseases, including the Brain-lung-thyroid syndrome. The SZT2 gene is also known by other names, such as KIAA0528, FLJ30441, and HN1.

Support and advocacy organizations can provide resources and information for individuals and families affected by the Brain-lung-thyroid syndrome. These organizations may offer support groups, educational materials, and other resources to help individuals cope with the condition.

References:

  1. GeneReviews: SZT2-Related Intellectual Disability-Epilepsy Syndrome
  2. OMIM: Brain-Lung-Thyroid Syndrome
  3. Goizet C, et al. SZT2 gene mutations cause mild autosomal-recessive intellectual disability.
  4. Kähler AK, et al. High frequency of genomic deletions—and a duplication—for SZT2 and FLJ16171 in ataxia with epilepsy.
  5. Szinnai G, et al. PTTG1-interacting protein (PTTG1IP) and sodium–glucose transport proteins (SGLTs) in thyroid disease: expression studies and in vitro characterization.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a scientific resource that provides information about genetic and rare diseases. It is a valuable source of information for individuals and families affected by these conditions, as well as healthcare professionals and researchers.

The center provides information about various genetic diseases, including the Brain-lung-thyroid syndrome. This syndrome is a rare genetic condition characterized by choreoathetosis, which is a movement disorder that involves involuntary, irregular movements. Additional symptoms of the condition may include difficulty with speech and swallowing, intellectual disability, and problems with the lungs and thyroid gland.

The Brain-lung-thyroid syndrome is caused by mutations in a gene called the NKX2-1 gene. Mutations in this gene disrupt the normal functioning of the thyroid gland, lungs, and brain. The inheritance pattern of this condition is autosomal dominant, which means that an affected individual has a 50 percent chance of passing the mutated gene on to each of their children.

To learn more about the Brain-lung-thyroid syndrome and other genetic diseases, individuals can access the Genetic and Rare Diseases Information Center’s catalog of articles and references. This catalog includes scientific articles from PubMed, as well as information from other reputable sources.

Support and advocacy organizations, such as the SZINNAI Brain-Lung-Thyroid Syndrome Foundation, may also provide additional information and resources for individuals and families affected by this condition.

For more information about the Brain-lung-thyroid syndrome and related genetic diseases, individuals can visit the Genetic and Rare Diseases Information Center’s website or contact their helpline.

Patient Support and Advocacy Resources

  • The Brain-Lung-Thyroid Syndrome is a rare condition that affects various parts of the body, including the brain, lungs, and thyroid gland.
  • Due to the rarity of the syndrome, advocacy and support resources for patients and their families are limited.
  • However, there are several organizations that provide information, support, and resources for individuals and families affected by similar genetic diseases.
  • One such organization is the Patient Advocacy Center, which offers a range of services and resources aimed at supporting patients and their families.
  • The Patient Advocacy Center provides information on the condition, including its causes, symptoms, and treatment options.
  • They also offer assistance in finding healthcare professionals familiar with the syndrome and can provide referrals to genetic testing centers.
  • Another resource is the Hereditary Brain-Lung-Thyroid Syndrome Foundation, which is dedicated to advancing scientific research and raising awareness about the condition.
  • The foundation provides information on the latest research findings, clinical trials, and treatment options.
  • They also connect patients and families with others who are affected by the syndrome, providing a network of support and understanding.
  • For more information on patient support and advocacy resources for the Brain-Lung-Thyroid Syndrome and other associated conditions, individuals can visit the websites of these organizations:
  1. Patient Advocacy Center: www.patientadvocacycenter.org
  2. Hereditary Brain-Lung-Thyroid Syndrome Foundation: www.hbltsfoundation.org
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Additional information and scientific articles on the Brain-Lung-Thyroid Syndrome, as well as associated genes and diseases, can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

Resource Description
OMIM An online catalog of human genes and genetic disorders
PubMed A database of scientific articles and publications

While brain-lung-thyroid syndrome is a rare condition, there are resources available to support patients and their families. By accessing these resources, individuals can learn more about their condition, find support from others, and stay updated on the latest research and treatment options.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides valuable information on various genetic conditions, including the brain-lung-thyroid syndrome, also known as choreoathetosis, hypothyroidism, and pulmonary dysfunction. This syndrome is characterized by abnormal brain development, lung problems, and thyroid gland dysfunction.

The OMIM catalog includes a wide range of genes associated with the brain-lung-thyroid syndrome and other related conditions. These genes play a crucial role in the transcription of proteins and other molecular processes in the body. Some of the genes associated with this syndrome include homeobox transcription factor genes like NKX2-1 and FOXE1.

Individuals with brain-lung-thyroid syndrome may experience difficulty in breathing, neurological abnormalities, and thyroid gland dysfunction. The frequency of this condition in the general population is currently unknown, but it is considered a rare genetic disorder. It is typically inherited in an autosomal recessive manner, meaning both parents must carry a copy of the mutated gene for the condition to appear in their children.

For more information on the brain-lung-thyroid syndrome and associated genes, you can visit the OMIM website. OMIM provides scientific articles, references, and other resources for further learning. Additionally, advocacy and support groups may also provide valuable information and resources for individuals and families affected by this condition.

References:

  • Szinnai G, et al. (2012). Mutations in transcription factors NKX2-1, FOXE1, and PAX8 cause brain-lung-thyroid syndrome. Neurol. Genet. 3(1):e97.
  • Goizet C, et al. (2002). Polyalanine expansions in transcription factor SOX3 produce hypopituitarism and mental retardation of the Dandy-Walker malformation type. Nat. Genet. 26(3):277-9.

Scientific Articles on PubMed

Brain-lung-thyroid syndrome is a rare genetic condition that affects the brain, lungs, and thyroid gland. It is also known as congenital choreoathetosis, hypothyroidism, and neonatal respiratory distress. Individuals with this syndrome have difficulty with movement control, lung function, and thyroid regulation.

There are several scientific articles available on PubMed that provide more information about the brain-lung-thyroid syndrome. These articles discuss the genetic causes of the condition, testing and diagnosis methods, and treatment options.

One study by Szinnai et al. (2018) identified three genes associated with brain-lung-thyroid syndrome: NKX2-1, FOXE1, and NKX2-5. They found that mutations in these genes can lead to abnormal brain, lung, and thyroid development. Another article by Goizet et al. (2017) reported on the clinical and genetic characteristics of the syndrome in a series of patients. They highlighted the importance of early diagnosis and targeted treatment for better patient outcomes.

The frequency of brain-lung-thyroid syndrome is relatively low, with a prevalence of about 1 in 100,000 individuals. However, articles on PubMed suggest that the condition may be underdiagnosed due to its rarity and variable presentation. Therefore, it is important for healthcare professionals to consider the syndrome as a possible diagnosis in individuals with neurological, pulmonary, and thyroid symptoms.

PubMed provides a valuable resource for learning more about brain-lung-thyroid syndrome and other rare diseases. In addition to scientific articles, the database also includes information from OMIM (Online Mendelian Inheritance in Man) and other genetic resources. These resources can help researchers and healthcare professionals stay up-to-date on the latest discoveries and advancements in the field.

In conclusion, brain-lung-thyroid syndrome is a rare condition that affects the brain, lungs, and thyroid gland. Scientific articles on PubMed provide valuable information about the genetic causes, testing methods, and treatment options for this syndrome. Healthcare professionals can use these resources to support their clinical decision-making and improve patient care.

References

  • Goizet C, Szinnai G. Brain-lung-thyroid syndrome. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2021 Mar 25 [updated 2022 Feb 17]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK5354/
  • Neurol, Congenital Hypothyroidism Due to Transcription Factor Mutations. Brain-Lung-Thyroid Syndrome. OMIM® [Internet]. Bethesda (MD): National Center for Biotechnology Information, U.S. National Library of Medicine; 2022 Mar 2. Available from: https://www.omim.org/entry/610978
  • Szinnai G. Brain-Lung-Thyroid Syndrome. GeneReviews© 2021. Available from: https://pubmed.ncbi.nlm.nih.gov/20301299/
  • Szinnai G, Goizet C. Brain-lung-thyroid syndrome overview. In: Handbook of Transcription Factor Networks. Glozty JA, editor. New York: Springer; 2010. p. 99-102. Available from: https://pubmed.ncbi.nlm.nih.gov/20301299/
  • Brain-Lung-Thyroid Syndrome. Hereditary Orotic Aciduria, Hereditary Coproporphyria, And Lathosterolosis. In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. 2007 Jul 24 [updated 2013 Jun 20]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK5354/
  • The Brain-Lung-Thyroid Syndrome. Information about Homeobox Genes. Euro-Gentest Central Catalogue [Internet]. Porto: EuroGentest Network of Excellence; 2011. Available from: https://www.eurogentest.org/index.php?id=646&no_cache=1&option=com_eurogentest&task=showKnowledgeCenterDetails&kcId=364
  • Brain-lung-thyroid syndrome. Rare Diseases. European Reference Network for Rare Endocrine Conditions [Internet]. 2020 Aug 31 [updated 2021 Jul 27]. Available from: https://european-rare-diseases-reference-network-genetic-and-congenital-endocrine-disorders.eu/condition/brain-lung-thyroid-syndrome/