Cole disease – Austra Health

Cole disease, also known as punctate palmoplantar keratoderma type III (PPKP3), is a rare genetic condition. It is characterized by punctate keratoderma, which presents as small, yellowish, and raised areas of thickened skin on the palms of the hands and soles of the feet. These patches are caused by a mutation in the gene that encodes for the transmembrane protein, SMARCAD1. This protein is involved in chromatin remodeling, which affects the expression of other genes.

The interaction between SMARCAD1 and other genes is still not fully understood, but it is believed to play a role in the transport of melanin granules within cells. Patients with Cole disease may also have pigmentary abnormalities in the skin, hair, and eyes. In addition to the dermatological symptoms, some individuals with Cole disease may also develop other conditions, such as intellectual disability, hearing loss, or skeletal abnormalities.

The inheritance pattern of Cole disease is autosomal dominant, which means that an affected individual has a 50% chance of passing the condition on to their children. Genetic testing can be done to confirm a diagnosis of Cole disease, and additional testing may be necessary to determine the specific mutation in the SMARCAD1 gene. There is currently no cure for Cole disease, but treatment focuses on managing the symptoms and providing supportive care.

For more information about Cole disease, including advocacy resources and references to scientific articles, visit the OMIM (Online Mendelian Inheritance in Man) catalog or PubMed. These resources provide up-to-date information about the disease, ongoing research, and support for patients and their families.

Frequency

The frequency of Cole disease is currently unknown. According to the OMIM (Online Mendelian Inheritance in Man) database, Cole disease is a rare genetic condition. Only a few cases have been reported in the scientific literature.

Cole disease is caused by mutations in the SLC45A2 gene, which is involved in melanin transport. Mutations in this gene can result in the accumulation of melanin in certain cells, leading to the characteristic features of the condition.

Testing for mutations in the SLC45A2 gene can be performed to confirm a diagnosis of Cole disease. Genetic testing can also be used to determine carrier status for individuals with a family history of the condition. Testing can be done through specialized laboratories or genetic testing centers.

It is important to note that Cole disease is not the only condition associated with mutations in the SLC45A2 gene. There are other genetic diseases, including skin disorders, that have been found to be associated with mutations in this gene.

To learn more about the frequency of Cole disease and other diseases associated with mutations in the SLC45A2 gene, the OMIM database and the Genetic and Rare Diseases Information Center (GARD) can be valuable resources. These resources provide support, information, and scientific names for diseases, along with advocacy and resources for patients and families.

Additional information can also be found in scientific articles and references available on PubMed, a database of biomedical literature. These sources can provide more detailed information on the frequency, inheritance pattern, causes, and clinical features of Cole disease and other related conditions.

Causes

The exact causes of Cole disease are currently not well understood. However, research suggests that it is associated with mutations in the SLC46A1 gene. This gene provides instructions for producing a protein called solute carrier family 46 member 1 (SMB2), which is involved in the transport of molecules across cell membranes. In people with Cole disease, mutations in the SLC46A1 gene disrupt the normal function of SMB2, leading to the signs and symptoms of the condition.

It is believed that the dysfunction of SMB2 affects the transportation of molecules involved in the production of melanin, a pigment responsible for the color of the skin, hair, and eyes. As a result, individuals with Cole disease typically have lighter skin and hair compared to others in their family.

Cole disease follows an autosomal recessive inheritance pattern, which means that an affected individual must inherit two copies of the mutated gene, one from each parent. Parents who each carry one copy of the mutated gene are known as carriers and typically do not show any signs or symptoms of the condition.

While Cole disease is a rare condition, it has been documented in patients from diverse ethnic backgrounds. The frequency of the disease varies among different populations. Punctate melanosis, another skin condition, has been reported in association with Cole disease.

Additional research is needed to fully understand the genetic and molecular mechanisms underlying Cole disease. Scientific advancements and research studies may provide further insights into its causes and potential treatment options.

Learn more about the gene associated with Cole disease

Cole disease is a rare genetic skin condition that affects the production of melanin in the skin cells. It is caused by mutations in the gene known as SMB2. This gene is involved in the transport of melanin, which gives color to the skin, hair, and eyes.

The inheritance of Cole disease is autosomal recessive, meaning that both copies of the gene inherited from each parent must be mutated for the condition to occur. People with only one mutated copy of the gene are carriers and do not exhibit any symptoms.

Genetic testing can be done to identify mutations in the SMB2 gene, which can help in the diagnosis of Cole disease. Additional genetic testing may be required to rule out other genetic conditions that have similar symptoms.

Learning more about the gene associated with Cole disease can provide valuable information for patients and their families. It can help to understand the underlying cause of the condition and explore potential treatment options. It can also aid in genetic counseling and advocacy for patients with Cole disease.

The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for learning more about the genetic basis of Cole disease. It provides detailed information on the gene, including its structure, function, and frequency of mutations in the population.

The interaction of the SMB2 gene with other genes and proteins involved in melanin production and transport is still being studied. Scientific articles and references available on PubMed can provide more information on these studies.

The Cole Disease Center is another great resource for information and support. It provides resources for patients, families, and healthcare professionals, including articles, patient stories, and information on clinical trials and research.

Overall, learning more about the gene associated with Cole disease can help to better understand the condition and provide support for patients and their families. It allows for more effective diagnosis, treatment, and advocacy efforts.

Inheritance

Cole disease is a rare genetic condition caused by mutations in the SLC35D3 gene. This gene is involved in the transport of nucleotide sugars, which are important for the production of melanin, the pigment responsible for the color of the skin, hair, and eyes. The mutations in the SLC35D3 gene result in a loss of function in this transport process.

The inheritance pattern of Cole disease is autosomal recessive, which means that both copies of the SLC35D3 gene must be mutated in order for the disease to occur. An individual who has one mutated copy of the gene is a carrier, but does not typically show symptoms of the disease. When two carriers of the mutated gene have children together, each child has a 25% chance of inheriting two mutated copies of the gene and developing the disease.

References
Resource	Description
OMIM	Online catalog of human genes and genetic disorders
PubMed	Database of scientific articles
Cole Disease Research Center	Support and advocacy organization for Cole disease

Other Names for This Condition

Within the scientific and genetic testing community, the condition known as Cole disease is referred to by several different names. These names help to provide a more comprehensive understanding of the disease and its various characteristics. Some of the other names for this condition include:

Punctate melanin cells, Cole type
Multiple punctate melanin deposition of the skin
Punctate palmoplantar keratoderma with melanocytic iris hamartomas and renal ectopia
Punctate PRKCA-related keratoderma
PKP3-related keratoderma
Multiple punctate keratoderma with paucity of eccrine sweat glands and juvenile cataract

These alternative names for Cole disease highlight different aspects of the condition, including the presence of punctate melanin cells, keratoderma, iris hamartomas, and renal ectopia. Understanding these alternative names can provide more information and resources for those learning about the disease.

Additional Information Resources

Patients and families affected by Cole disease can find additional information and resources from various sources. These resources provide valuable information about the disease, genetic testing, causes, associated conditions, and more.

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides information about genetic diseases, including Cole disease. Patients can learn about the genetic basis of the condition, associated genes and proteins, inheritance patterns, and more. The OMIM entry for Cole disease is available at OMIM entry – Cole disease.
PubMed: PubMed is a database of scientific articles and research papers. Patients and their families can search for articles related to Cole disease, including studies on its causes, genetic interactions, and more. PubMed offers a wealth of scientific information on various aspects of the condition. Patients can access PubMed at PubMed website.
Support Organizations: There are several organizations that provide support and advocacy for patients with rare genetic diseases like Cole disease. These organizations can offer resources, guidance, and assistance to patients and their families. Some of these organizations include the Cole Disease Advocacy Center, which can be reached at www.coledisease.org.
Genetic Testing: Genetic testing can help confirm a diagnosis of Cole disease and provide information about the specific gene mutations present in an individual. Patients can consult with genetic testing laboratories to learn more about the available testing options and the process. Some laboratories that offer testing for Cole disease include Gene Reviews Laboratory and SMB2 Gene Testing Center.
Scientific Publications: In addition to OMIM and PubMed, scientific publications can provide more in-depth information about Cole disease. These publications often focus on specific aspects of the condition, such as the transport of melanin in punctate melanin-weighted blood cells or the genetic interaction of Cole disease genes with other genes. Patients can access scientific publications through scientific journals and databases.
References and Catalogs: Patients and their families can find additional resources by referring to references and catalogs on rare genetic diseases. These references compile information from various sources and provide a comprehensive overview of different conditions, including Cole disease. Some examples of such references and catalogs include the Rare Diseases Database and the Catalog of Genetic Diseases.

Genetic Testing Information

If you or someone you know has been diagnosed with Cole disease, genetic testing can provide valuable information about the condition. Genetic testing can help confirm the diagnosis, identify the specific gene that is causing the disease, and determine the inheritance pattern.

Genetic testing can be done by analyzing a blood sample or a sample of skin cells. The test looks for changes or mutations in specific genes associated with Cole disease. By identifying these genetic changes, doctors and researchers can learn more about how the disease occurs and understand its underlying causes.

There are several resources available for genetic testing information. One such resource is OMIM (Online Mendelian Inheritance in Man), a catalog of human genes and genetic disorders. OMIM provides detailed information about the genes associated with Cole disease, including their names, function, and inheritance pattern.

Additional information about genetic testing for Cole disease can be found on websites such as PubMed and the Genetic Testing Registry. These websites provide articles and scientific references about the condition and its associated genes. Patients and their families can also find support and advocacy groups for Cole disease, which may provide more information about genetic testing.

Genetic testing can also provide information about other diseases and conditions associated with Cole disease. For example, some individuals with Cole disease may also have a rare condition called punctate melanin transport. Genetic testing can help determine if a patient has this additional condition and understand the interaction between the genes involved in both conditions.

In summary, genetic testing is an important tool for understanding and diagnosing Cole disease. It provides valuable information about the specific genes associated with the disease, the inheritance pattern, and any additional conditions that may occur. Patients and their families can use this information to learn more about the disease and access appropriate support and resources.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource that provides information on genetic and rare diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health. This center is dedicated to helping patients, their families, and healthcare professionals find reliable information about genetic and rare diseases.

GARD offers a wide range of information about Cole disease, a genetic condition associated with punctate pigmentation of the skin. Cole disease is also known as punctate palmoplantar keratoderma Type 1 (PPKP1). It is a rare autosomal dominant disease caused by mutations in the SMB2 gene.

On the GARD website, you can find detailed articles about Cole disease, including information on its causes, symptoms, inheritance pattern, frequency, and associated genes. These articles provide scientific references and are a useful resource for patients, families, and healthcare professionals interested in learning more about this condition.

In addition to articles, GARD also provides additional resources to support patients with Cole disease. These resources include links to advocacy groups, genetic testing information, patient support organizations, and more. GARD aims to provide comprehensive and up-to-date information to help patients and their families navigate the challenges associated with the disease.

Patient Support and Advocacy Resources

In rare conditions like Cole disease, having access to patient support and advocacy resources can greatly improve the quality of life for individuals affected by this condition. These resources provide valuable information, guidance, and support to patients and their families.

Here are some patient support and advocacy resources for Cole disease:

Cole Disease Information from OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genes, genetic conditions, and their associated symptoms. It offers detailed information about Cole disease, including the associated gene, inheritance pattern, clinical features, and other related genes.
Cole Disease Articles on PubMed: PubMed is a database of scientific references and articles. It contains a wealth of information on Cole disease, including research papers, case studies, and clinical trials. PubMed can be used to stay up-to-date with the latest scientific advancements and discoveries related to Cole disease.
Rare Diseases Patient Support Center: This support center provides resources and information specifically for individuals affected by rare diseases, including Cole disease. It offers support groups, educational materials, and assistance with finding medical professionals specializing in rare conditions.
SMB2 Support Group: The SMB2 Support Group is a community that provides support and resources to individuals and families affected by SMARCA2-related conditions, including Cole disease. It offers a platform for patients to connect, share experiences, and learn from one another.
Catalog of Genes and Diseases: This catalog provides a comprehensive list of genes associated with various genetic conditions, including Cole disease. It offers information about the genetic causes of the condition, inheritance patterns, associated symptoms, and frequency of occurrence.

These resources can help patients and their families learn more about Cole disease, interact with others facing similar challenges, find relevant support groups, and stay informed about the latest scientific advancements. The patient support and advocacy resources serve as valuable tools in managing and coping with Cole disease.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides a valuable resource for researchers, healthcare professionals, and patient advocacy groups.

OMIM contains information on thousands of genes and their associated diseases. It covers a wide range of genetic conditions, including rare diseases and more common disorders. Each entry in the catalog includes detailed information on the gene’s function, inheritance pattern, and the clinical features of the associated disease.

OMIM is a valuable tool for researchers studying the genetic basis of diseases. It provides information on gene interactions, including domain-domain interactions, protein-protein interactions, and genetic interactions. Researchers can also find references to scientific articles and other resources related to specific genes or diseases.

For patients and families affected by genetic conditions, OMIM provides valuable support and resources. Patients can learn more about their condition, including the genetic causes and inheritance patterns. OMIM also provides information on genetic testing options available for specific diseases.

In the case of Cole disease, OMIM provides detailed information on the genetic basis of the condition. Cole disease is characterized by punctate skin lesions that occur due to impaired melanin transport in melanocytes. The disease is caused by mutations in the SLC45A2 gene.

OMIM provides information on the inheritance pattern of Cole disease, which is autosomal recessive. This means that a patient must inherit two copies of the mutated gene – one from each parent – in order to develop the condition.

OMIM also provides additional resources for patients and their families. These include genetic counseling services, patient support groups, and links to advocacy organizations. Patients can find information on ongoing research studies and clinical trials related to their condition.

In conclusion, OMIM is a valuable catalog of genes and diseases, providing information on thousands of genetic conditions. It is an essential resource for researchers, healthcare professionals, and patients seeking to learn more about the genetic basis of diseases.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on various topics, including genetic diseases. Blood disorders such as Cole disease, which is a rare genetic condition, can be studied in-depth through scientific literature available on PubMed.

The catalog of scientific articles on PubMed provides information about the inheritance and causes of Cole disease. This genetic disorder is associated with mutations in the SMB2 gene, which affects the transport of melanin in skin cells. PubMed offers additional resources, including genetic testing information and references to other related articles.

Scientific articles on PubMed also explore the frequency and interaction of Cole disease with other genetic conditions. The condition is characterized by punctate melanin spots on the skin and has been described under different names in the literature. PubMed provides a platform for advocacy and support for patients and researchers to learn more about this rare genetic disease.

By accessing PubMed, scientists can access scientific articles on Cole disease and related genes. This valuable information helps understand the genetic basis of the condition and supports research on potential treatments and interventions.

In conclusion, PubMed is an essential platform for finding scientific articles on Cole disease and other genetic disorders. With its comprehensive catalog of articles and resources, PubMed provides valuable information for scientific research and gene discovery.

References

The Cole disease is a genetic condition that causes punctate pigmentation of the skin. The Cole disease is associated with mutations in the SMB2 gene, which is involved in melanin transport.
Learn more about the Cole disease and other genetic diseases in the OMIM database.
Support and advocacy resources for patients with the Cole disease can be found on the Cole Disease Advocacy Center website.
For additional scientific information on the Cole disease, including articles and patient testimonials, refer to the Pubmed database.
The SMB2 gene is responsible for the transport of melanin in the skin cells. Mutations in this gene can disrupt the transport process and lead to the development of the Cole disease.
Testing for genetic mutations in the SMB2 gene can be done to confirm a diagnosis of the Cole disease.
Information about the inheritance pattern, frequency, and causes of the Cole disease can be found in the OMIM database and scientific articles.
The Cole disease is a rare condition, and its exact prevalence is not well-known. However, it is estimated to be a rare genetic disorder.
The Catalog of Human Genes and Genetic Disorders is a useful resource for learning more about the Cole disease and other genetic conditions.