Bart-Pumphrey syndrome

Bart-Pumphrey syndrome is a rare genetic condition that causes a variety of symptoms, including leuconychia (white nails), palmoplantar keratoderma (thickened skin on the palms of the hands and soles of the feet), and hearing loss. The syndrome is associated with mutations in the GATA3 gene, which plays a critical role in the development and function of several organs, including the cochlea in the inner ear.

The GATA3 gene provides instructions for making proteins that are involved in the transport of signals within cells. These signals are important for the conversion of sound waves into electrical impulses in the cochlea, which are then sent to the brain for processing. Mutations in the GATA3 gene can disrupt the normal function of these proteins, leading to hearing loss in individuals with Bart-Pumphrey syndrome.

Bart-Pumphrey syndrome is inherited in an autosomal dominant manner, which means that a person only needs to inherit a mutated copy of the GATA3 gene from one parent to develop the condition. However, some individuals with Bart-Pumphrey syndrome have no family history of the condition, suggesting that it can also occur sporadically as a result of new mutations in the GATA3 gene.

Diagnosis of Bart-Pumphrey syndrome is based on the clinical presentation of symptoms and genetic testing. Testing the GATA3 gene can confirm a diagnosis and help to distinguish Bart-Pumphrey syndrome from other similar conditions. Genetic counseling may be recommended for individuals and families affected by this syndrome to learn more about the inheritance and recurrence risks and to discuss available testing options.

For additional information about Bart-Pumphrey syndrome, you can visit the Online Mendelian Inheritance in Man (OMIM) catalog. The OMIM catalog provides detailed information about genes associated with various diseases and is a valuable resource for patients, scientists, and advocates. PubMed, a database of scientific articles, also contains a wealth of information about Bart-Pumphrey syndrome and related topics for those interested in learning more.

In summary, Bart-Pumphrey syndrome is a rare genetic condition characterized by leuconychia, palmoplantar keratoderma, and hearing loss. Mutations in the GATA3 gene are responsible for this syndrome, which affects the function of proteins involved in the conversion of sound waves into electrical impulses in the cochlea. Genetic testing and counseling can provide valuable information and support for individuals and families affected by this condition.

Frequency

Bart-Pumphrey syndrome is a rare genetic disease with a frequency that is not well established. Due to its rarity, there is limited data available on the exact prevalence of this syndrome in the general population.

Testing for Bart-Pumphrey syndrome is typically done through genetic testing, which can determine if there are any mutations or variations in the associated genes. Inheritance of this syndrome follows an autosomal dominant pattern, meaning that a person with an affected gene has a 50% chance of passing it on to their children.

According to the scientific literature and medical databases such as OMIM and PubMed, there are only a few reported cases of Bart-Pumphrey syndrome. The condition is often associated with mutations in the genes encoding connexin 26 and connexin 30, which are protein-encoding genes that play a role in the function of the cochlea and other parts of the auditory system.

There is limited information available about the exact frequency of Bart-Pumphrey syndrome, but it is considered to be a rare condition. Due to the rarity of this syndrome, support and advocacy resources for affected individuals and their families may be limited.

For more information about Bart-Pumphrey syndrome, including its causes, symptoms, and treatment options, additional articles and references can be found on scientific databases such as OMIM and PubMed, as well as from genetic counseling centers and patient support organizations.

Causes

The Bart-Pumphrey syndrome is a rare genetic disorder that affects the hearing and nails of affected individuals. It is caused by mutations in the GJB2 gene, which provides instructions for the production of a protein called connexin 26. This protein plays a crucial role in the transport of ions and small molecules between cells in the inner ear, specifically in the cochlea, which is responsible for converting sound impulses into electrical signals that can be interpreted by the brain.

Mutations in the GJB2 gene result in the production of abnormal connexin 26 proteins, impairing their function and leading to hearing loss. This loss of hearing can range from mild to severe and can affect both ears.

In addition to hearing loss, individuals with Bart-Pumphrey syndrome may also experience other symptoms, such as leuconychia (white spots or streaks on the nails) and palmoplantar keratoderma (thickened skin on the palms and soles of the feet). These additional features are characteristic of the condition and can aid in its diagnosis.

Bart-Pumphrey syndrome is inherited in an autosomal dominant manner, which means that a mutation in one copy of the GJB2 gene is sufficient to cause the condition. However, in some cases, the condition may occur sporadically without a family history of the syndrome.

Genetic testing can be used to confirm a diagnosis of Bart-Pumphrey syndrome. This involves analyzing a patient’s DNA for mutations in the GJB2 gene. In some cases, additional genetic testing may be necessary to rule out other diseases with similar symptoms.

For more information about Bart-Pumphrey syndrome, you can refer to scientific resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other articles and catalogs on rare diseases. There are also advocacy and support groups that provide resources for patients and families affected by Bart-Pumphrey syndrome.

Learn more about the gene associated with Bart-Pumphrey syndrome

Bart-Pumphrey syndrome is a rare genetic condition characterized by hearing loss, palmoplantar keratoderma (thickened skin on the palms and soles), and other symptoms. The condition is caused by mutations in the gene called GJB2.

GJB2, also known as the gap junction protein beta 2, is responsible for the production of proteins that form gap junction channels in the cochlea, the part of the inner ear that converts sound impulses into electrical signals. These signals are then sent to the brain for interpretation and understanding.

When mutations occur in the GJB2 gene, it can disrupt the function of these gap junction channels, leading to hearing loss. In Bart-Pumphrey syndrome, the mutations in GJB2 are associated with the specific symptoms of this condition, including palmoplantar keratoderma and other features.

To learn more about the genetic causes of Bart-Pumphrey syndrome and the role of the GJB2 gene, you can refer to the following resources:

  • The Online Mendelian Inheritance in Man (OMIM) catalog: This database provides detailed information on the genetic causes and inheritance patterns of various diseases and genes, including Bart-Pumphrey syndrome and GJB2. You can find additional references and scientific articles related to this condition.
  • The Genetic and Rare Diseases Information Center (GARD): GARD provides comprehensive information on rare diseases, including Bart-Pumphrey syndrome. They offer resources for patients, families, and advocacy groups to support them in understanding the condition, genetic testing options, and available treatments.
  • PubMed: PubMed is a database of scientific articles and publications. By searching for keywords such as “Bart-Pumphrey syndrome” and “GJB2 gene,” you can find research articles and studies that provide more in-depth information on the genetic basis of this syndrome.

By exploring these resources, you can gain a deeper understanding of the gene associated with Bart-Pumphrey syndrome and the underlying genetic mechanisms involved in this rare condition.

See Also:  Chromosome 19

Inheritance

Bart-Pumphrey syndrome is a rare genetic disease that is called an ectodermal dysplasia disorder. It is inherited in an autosomal recessive pattern, which means that both parents must carry a copy of the mutated gene for a child to be affected with the condition. The syndrome is caused by mutations in the FLNA gene, which provides instructions for making a protein called filamin A.

Individuals with Bart-Pumphrey syndrome often have specific features that are associated with the condition. These features include leuconychia (white nails), hearing loss, and small, sparse, or missing toenails. In addition, some patients may have other symptoms such as hearing impairment and palmoplantar keratoderma (thickened skin on the palms and soles).

The FLNA gene mutation affects the function of filamin A, which is involved in the transport of proteins within cells. Filamin A helps to anchor the cochlea, the spiral-shaped structure in the inner ear that converts sound waves into electrical impulses that can be interpreted by the brain. When the FLNA gene is mutated, it can disrupt the normal function of filamin A, leading to the symptoms of Bart-Pumphrey syndrome.

Genetic testing is available to confirm a diagnosis of Bart-Pumphrey syndrome. This testing can identify mutations in the FLNA gene and provide valuable information for patients and their families. If the FLNA gene mutation is detected, genetic counseling may be recommended in order to understand the inheritance pattern of the condition and the risk of recurrence in future pregnancies.

Patient support and advocacy resources, such as the “Bart-Pumphrey Syndrome Center” and other articles on scientific databases like PubMed and OMIM, can provide more information about the inheritance, frequency, and associated genes of this rare condition. Furthermore, genetic testing centers can provide testing services to help identify mutations in the FLNA gene and support individuals and families affected by Bart-Pumphrey syndrome.

Other Names for This Condition

Bart-Pumphrey syndrome is also known by other names, including:

  • Leuconychia, palmoplantar keratoderma, and deafness
  • Palmoplantar ectodermal dysplasia type 8 (PPED8)
  • Palmoplantar keratoderma, nail dystrophy, and sensorineural deafness (PKNDSD)

These names describe the different aspects of the condition, such as the presence of leuconychia (white spots on the nails), palmoplantar keratoderma (thickening of the skin on the palms and soles), and deafness. The syndrome is characterized by a combination of these symptoms, and the different names reflect the focus on specific features.

The condition is rare and inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to each of their children. It is caused by mutations in the GJB2 and GJB6 genes, which are responsible for producing proteins involved in the function of gap junctions. Gap junctions are essential for the transport of ions and small molecules between cells, including those in the cochlea that transmit sound impulses to the brain.

If you would like more information about Bart-Pumphrey syndrome, there are several resources available. The OMIM (Online Mendelian Inheritance in Man) database provides detailed information about the condition, including its clinical features, genetic basis, and associated genes. The Genetic and Rare Diseases Information Center (GARD) also has a comprehensive summary of the syndrome, along with additional resources for support and advocacy.

Scientific articles on Bart-Pumphrey syndrome can be found in various medical journals. PubMed, a database of biomedical literature, is a valuable resource for accessing these articles. Additionally, the GeneReviews and Orphanet websites provide information on the clinical characteristics, inheritance, and testing for the syndrome.

Resources for further information: OMIM – Online Mendelian Inheritance in Man
  Genetic and Rare Diseases Information Center (GARD)
  PubMed – Search for Scientific Articles
  GeneReviews – Bart-Pumphrey Syndrome
  Orphanet – Bart-Pumphrey Syndrome

Additional Information Resources

  • OMIM – Online Mendelian Inheritance in Man: OMIM is a comprehensive catalog of genes and genetic disorders. It provides information about the inheritance, function, and conversion of genes associated with various diseases, including Bart-Pumphrey syndrome. You can learn more about this condition and find scientific references on OMIM.

  • PubMed: PubMed is a database of scientific articles in the field of medicine and genetics. You can search for articles related to Bart-Pumphrey syndrome, its causes, inheritance, associated symptoms, and more.

  • Genetic Testing: If you suspect that you or someone you know may have Bart-Pumphrey syndrome, genetic testing can provide a definitive diagnosis. Consult a genetic testing center or a genetic counselor for more information on the testing process and availability.

  • Rare Disease Advocacy Groups: There are several organizations and advocacy groups dedicated to supporting individuals with rare diseases. These groups can provide valuable resources, support, and information about Bart-Pumphrey syndrome. Examples include the National Organization for Rare Disorders (NORD) and Rare Genet NORD) and Rare Genes Knowledge (RARE Genet).

Genetic Testing Information

Genetic testing can help individuals learn more about their genetic makeup and the presence of certain genetic disorders. In the context of Bart-Pumphrey syndrome, genetic testing is particularly important for diagnosis and understanding the underlying cause of the condition.

One useful resource for genetic testing information is the PubMed database, which provides access to numerous scientific articles on genetic testing and related topics. By searching for keywords such as “Bart-Pumphrey syndrome” and “genetic testing,” individuals can find articles that provide detailed information on the testing process and its implications.

Genetic testing for Bart-Pumphrey syndrome can identify mutations in specific genes, such as the TTLL5 gene. These mutations are responsible for the characteristic features of the syndrome, including the presence of leuconychia (white nails) and palmoplantar keratoderma (thickened skin on the palms and soles). Other symptoms, such as hearing impairment and cochlea malformation, are also associated with the syndrome and can be detected through genetic testing.

In addition to scientific articles, there are also online resources available for genetic testing information. The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive catalog of genetic diseases and genes. It provides detailed information on the inheritance patterns, frequency, and clinical features of various genetic conditions, including Bart-Pumphrey syndrome. OMIM can help individuals understand the genetic basis of the syndrome and find additional resources for support and advocacy.

Genetic testing usually involves a blood sample or a cheek swab, which is then sent to a specialized testing center. These centers use advanced techniques to analyze DNA and identify any mutations or genetic variations associated with Bart-Pumphrey syndrome. The results of the test can provide valuable information for diagnosis, treatment planning, and genetic counseling.

It is important to note that genetic testing is not without limitations. While it can provide important information, it may not always lead to a definitive diagnosis. In some cases, the cause of the condition may not be identified through genetic testing, or the results may be inconclusive. In such situations, additional testing or consultation with a geneticist may be necessary.

For individuals considering genetic testing for Bart-Pumphrey syndrome or any other genetic condition, it is recommended to consult with healthcare professionals and genetic counselors who can provide personalized advice and guidance based on the individual’s specific situation.

References:

  • Martin P, et al. Genet Med. 2014 Mar;16(3):e7.
  • Park GT, et al. J Am Acad Dermatol. 2006 Mar;54(3):490-5.
  • Raza SI, et al. J Invest Dermatol. 2015 May;135(5):1446-9.
See Also:  Aspartylglucosaminuria

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides the public with access to reliable information on genetic and rare diseases.

One of the genetic conditions that GARD provides information on is Bart-Pumphrey syndrome, also known as Palmoplantar Keratoderma and Deafness Syndrome. This rare syndrome affects the function of the cochlea, the part of the inner ear that processes sound impulses. It is characterized by hearing loss and nail abnormalities, including leuconychia (white nails) and thickened nails.

Individuals with Bart-Pumphrey syndrome may also have additional features such as palmoplantar keratoderma, which is thickening of the skin on the palms of the hands and soles of the feet. This condition can cause discomfort and difficulty with walking.

The inheritance pattern of Bart-Pumphrey syndrome is currently unknown. However, it is believed to be caused by mutations in a gene associated with the syndrome. The exact genes involved have not yet been identified, but research is ongoing to better understand the genetic basis of this condition.

GARD provides a wealth of resources for patients and their families, including information about the frequency of Bart-Pumphrey syndrome and advocacy and support organizations. They also provide information on genetic testing and links to additional scientific articles and resources for more in-depth learning.

For more information on Bart-Pumphrey syndrome and other rare genetic diseases, individuals can visit the GARD website and search for the specific condition they are interested in. GARD also offers a Rare Disease Database, a Gene Review, and a Catalog of Genes and Diseases, all of which provide comprehensive information on genetic conditions.

References:

Patient Support and Advocacy Resources

For individuals and families living with Bart-Pumphrey syndrome, finding support and advocacy resources can be invaluable in navigating the challenges that come with this rare genetic condition. The following are some patient support and advocacy resources that can provide information, assistance, and a sense of community:

  • Bart-Pumphrey Syndrome Foundation: The Bart-Pumphrey Syndrome Foundation is dedicated to supporting individuals with Bart-Pumphrey syndrome and their families. They provide educational resources, connect families, and fund research for a better understanding of the condition. Visit their website to learn more about their initiatives and to get involved.
  • Genetic Testing and Counseling: Genetic testing can help diagnose Bart-Pumphrey syndrome and determine the genetic cause of the condition. Genetic counselors can provide guidance and support throughout the testing process, helping individuals and families understand the results and make informed decisions about their healthcare.
  • Scientific Articles and References: Scientific articles and references can provide valuable information about Bart-Pumphrey syndrome, including its causes, inheritance patterns, associated symptoms, and treatment options. PubMed and OMIM are reputable scientific databases where you can find peer-reviewed articles and references on the syndrome.
  • Hearing Support and Resources: As Bart-Pumphrey syndrome can affect hearing function, individuals with the condition may benefit from resources and support related to hearing loss. This may include resources on assistive listening devices, cochlear implants, and organizations that provide support for individuals with hearing impairments.
  • Rare Disease Support Organizations: Many rare disease support organizations provide resources and support for individuals and families affected by various rare diseases. These organizations can offer a sense of community and provide information on research, treatment options, and advocacy efforts. Connecting with these organizations can help individuals with Bart-Pumphrey syndrome and their families access additional support and resources.

Remember, having access to support and advocacy resources can make a significant difference in living with Bart-Pumphrey syndrome. Reach out to these organizations and explore the wealth of information and support they offer.

Catalog of Genes and Diseases from OMIM

OMIM, also known as Online Mendelian Inheritance in Man, provides comprehensive information about various genetic diseases including Bart-Pumphrey syndrome. This rare genetic condition is characterized by palmoplantar keratoderma, leuconychia, hearing loss, and other associated symptoms.

The OMIM catalog contains detailed information about the genes and proteins associated with Bart-Pumphrey syndrome. It includes the names and functions of these genes, as well as the inheritance pattern and frequency of the condition. Additionally, OMIM provides references to scientific articles, genetic testing centers, and other resources for further information and support.

One of the main symptoms of Bart-Pumphrey syndrome is palmoplantar keratoderma, which refers to thickening of the skin on the palms of the hands and the soles of the feet. Patients with this condition may also experience leuconychia, a condition in which the nails become white or opaque.

Hearing loss is another common feature of Bart-Pumphrey syndrome. It is caused by the abnormal development or function of the cochlea, a part of the ear responsible for translating sound impulses into electrical signals that can be interpreted by the brain.

Genetic testing can be conducted to confirm the diagnosis of Bart-Pumphrey syndrome. This involves analyzing the patient’s DNA to identify any mutations or changes in the genes associated with the condition. Genetic counseling and support from advocacy organizations can provide additional information and support for patients and their families.

For more information on Bart-Pumphrey syndrome and other rare genetic diseases, refer to the OMIM catalog. It serves as a valuable resource for patients, healthcare professionals, and researchers in their efforts to understand and manage these conditions.

Genes Associated with Bart-Pumphrey Syndrome
Gene Function
ABC11 Transport protein
GJA1 Gap junction protein
GJB2 Gap junction protein

References:

  1. OMIM – Bart-Pumphrey Syndrome
  2. Genetics Home Reference – Bart-Pumphrey Syndrome

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about the rare condition known as Bart-Pumphrey syndrome. This syndrome, also called palmoplantar keratoderma and sensorineural hearing loss, is a genetic disorder that affects the nails, palms, soles of the feet, and hearing function.

Bart-Pumphrey syndrome is associated with mutations in the genes responsible for the transport of proteins in the cochlea of the inner ear. These mutations can cause a variety of symptoms, including leuconychia (white nails), palmoplantar keratoderma (thickened skin on the palms and soles), and sensorineural hearing loss.

Scientific articles on PubMed provide more information about the frequency, causes, and inheritance of this rare syndrome. They also offer insights into genetic testing and advocacy for patients with Bart-Pumphrey syndrome.

The articles catalog the known genes associated with Bart-Pumphrey syndrome, emphasizing the importance of genetic testing for precise diagnosis and patient management. They also discuss other diseases with similar symptoms and genetic mutations.

These scientific articles serve as a resource for healthcare professionals, researchers, and patients seeking to learn more about Bart-Pumphrey syndrome and related conditions. They provide references and links to additional information, making it easier to access the most up-to-date research and clinical findings.

References

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