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The DSP gene, also known as the desmoplakin gene, is associated with several diseases and conditions. It is an idiopathic gene that can cause abnormal conditions in various tissues and organs, including the heart. Without proper functioning of the DSP gene, individuals can develop severe cardiomyopathy, a life-threatening heart condition characterized by changes in the structure of the heart. These changes can impact the ventricular function and lead to arrhythmogenic right ventricular cardiomyopathy.

The DSP gene provides instructions for the production of desmosomes, which are structures that help cells adhere to each other. Mutations in this gene can result in a variant of cardiomyopathy called arrhythmogenic right ventricular cardiomyopathy. This condition is characterized by fibrosis, or the abnormal accumulation of fibrous tissue, in the right ventricle of the heart. It can lead to ventricular arrhythmias and other life-threatening heart disorders.

Testing for genetic variants in the DSP gene can be done to identify the cause of cardiomyopathy in individuals and their families. It provides important information for diagnosis and can guide treatment decisions. There are additional resources available, such as scientific articles and databases like PubMed and OMIM, where information on the DSP gene and related conditions can be found. The DSP gene is also listed in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information on genetic disorders.

In addition to cardiomyopathy, mutations in the DSP gene can cause other conditions, such as idiopathic dilated cardiomyopathy, right ventricular cardiomyopathy, and woolly hair with or without keratoderma. Further research is needed to fully understand the role of the DSP gene in these disorders and to develop targeted therapies.

Genetic changes can lead to various health conditions affecting different parts of the body. This article provides information on some of the health conditions related to genetic changes.

Hair Keratoderma with Arrhythmogenic Right Ventricular Cardiomyopathy

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  • Also known as LAEBII (Lethal Autosomal Recessive Epidermolysis Bullosa)
  • Caused by changes in the DSP gene
  • Affects the skin, hair, nails, and heart
  • Characterized by abnormal hair, palmoplantar keratoderma (thickening of the skin on the palms and soles), and arrhythmogenic right ventricular cardiomyopathy
  • Can be life-threatening due to arrhythmias and heart failure
  • For more information, visit the OMIM catalog: https://www.omim.org/entry/613000

Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related

  • Caused by changes in the TERT or TERC genes
  • Results in severe pulmonary fibrosis (scarring of the lungs) and bone marrow failure
  • Can be a part of other syndromes like dyskeratosis congenita
  • Testing for TERT and TERC gene changes can be done
  • For more information, visit the NIH Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr/genes/7015/

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

Note: The above lists only provide a selection of conditions related to genetic changes. There are many other gene-related diseases not listed here. Additional information can be found in scientific articles, health resources, and genetic disease catalogs.

Keratoderma with woolly hair

Keratoderma with woolly hair is a rare genetic condition that affects the skin and hair. It is characterized by the presence of both palmoplantar keratoderma and woolly hair.

Palmoplantar keratoderma refers to a thickening of the skin on the palms of the hands and the soles of the feet. The affected areas may become red, scaly, and rough. Woolly hair, on the other hand, is a distinctive hair texture that is tightly curled and resembles tightly coiled wool.

The condition primarily affects the ventricular septum of the heart, which is the thick wall that separates the right and left ventricles. It can also affect other areas of the heart, leading to changes in the structure and function of the heart muscles. These changes can result in cardiomyopathy, a condition characterized by abnormal heart muscle function.

The exact genetic causes of keratoderma with woolly hair are not fully understood. However, mutations in the DSP gene have been identified as one of the causes. The DSP gene provides instructions for producing a protein called desmoplakin, which is essential for the formation of structures called desmosomes. Desmosomes play a crucial role in maintaining the integrity and strength of tissues, including the skin and heart muscles.

Individuals with keratoderma with woolly hair may also have other associated health conditions. These can include severe ventricular arrhythmogenic cardiomyopathy, pulmonary fibrosis, and idiopathic pulmonary fibrosis. Genetic testing can help identify specific gene variants associated with the condition and provide additional information on related diseases and conditions.

For more information about keratoderma with woolly hair and related genetic conditions, the OMIM database and scientific articles listed on PubMed provide valuable resources. Genetic counseling and testing can also provide more information on the specific gene variants that may cause the condition and guide treatment options.

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Arrhythmogenic right ventricular cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy, also known as arrhythmogenic right ventricular dysplasia (ARVD) or arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), is a genetic condition that affects the heart muscle. It is characterized by the replacement of normal heart muscle tissue with fibrous or fatty tissue, which can lead to abnormal heart rhythms.

This condition is caused by mutations in genes that are involved in the structure and function of the heart muscle cells. The most commonly affected gene is called the DSP gene, which provides instructions for making a protein that plays a role in the formation of desmosomes, specialized structures that help to hold heart muscle cells together.

ARRVD is inherited in an autosomal dominant pattern, which means that a person who has one copy of the mutated gene has a 50% chance of passing it on to their children. However, not all individuals with a mutation in the DSP gene will develop symptoms of ARVD.

Symptoms of ARVD can vary widely, even among members of the same family. Some individuals may experience no symptoms at all, while others may develop severe and life-threatening arrhythmias. Common symptoms of ARVD include palpitations, fainting, and shortness of breath.

Diagnosis of ARVD typically involves a combination of tests, including electrocardiograms (ECGs), echocardiograms, and cardiac MRI scans. Genetic testing may also be used to identify specific mutations in the DSP gene.

Treatment for ARVD aims to manage symptoms and prevent complications. Medications may be prescribed to control abnormal heart rhythms, and implantable cardioverter-defibrillators (ICDs) may be recommended for individuals at risk of sudden cardiac arrest.

It is important for individuals with ARVD and their families to receive regular cardiac evaluations and to have appropriate genetic counseling. Additional resources and information can be found through the Online Mendelian Inheritance in Man (OMIM) database and the Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Registry.

Idiopathic Pulmonary Fibrosis

Idiopathic pulmonary fibrosis (IPF) is a chronic and progressive lung disorder characterized by the formation of scar tissue (fibrosis) in the lungs. This condition is considered idiopathic, meaning that the cause is unknown. However, research has identified certain genetic variants that may be associated with the development of IPF.

Several genes have been identified as potential candidates for causing or contributing to the development of IPF. In particular, mutations in the DSP gene have been found in some individuals with IPF. DSP gene mutations have also been associated with other disorders, including arrhythmogenic cardiomyopathy and palmoplantar keratoderma.

The exact relationship between DSP gene mutations and IPF is still not fully understood. Additional research is needed to determine how these mutations may contribute to the development of IPF and whether other genes or environmental factors are involved.

The identification of these genetic variants has provided important insights into the underlying mechanisms of IPF. It has also highlighted the potential for targeted therapies that may be developed to specifically address the genetic factors contributing to the development of this condition.

References:

Other disorders

In addition to DSP gene mutations causing skin and heart disorders, mutations in desmosomes can also lead to other conditions. These conditions include:

  • Woolly hair syndrome: This is a rare genetic condition that affects hair follicles, causing the hair to be abnormally tight, curled, and brittle.
  • Palmoplantar keratoderma: This condition causes thickening of the skin on the palms of the hands and soles of the feet, resulting in a rough and calloused appearance.
  • Arrhythmogenic right ventricular cardiomyopathy: A life-threatening genetic disorder that affects the structure of the heart’s muscle tissue, leading to abnormal heart rhythms.
  • Familial dilated cardiomyopathy: A condition characterized by severe enlargement and weakening of the heart muscle, which impairs its ability to pump blood effectively.
  • Severe arrhythmogenic idiopathic pulmonary fibrosis: This condition causes progressive scarring of the lungs, leading to difficulty breathing and reduced pulmonary health.

These disorders are all caused by mutations in genes other than DSP. They have been identified through scientific research and are listed in various genetic databases and resources, such as OMIM (Online Mendelian Inheritance in Man). Additional articles and resources can provide more information on these diseases and the specific changes in genes associated with them.

Tests for DSP gene mutations are available for diagnosing and identifying these disorders. However, it is important to note that not all individuals with these conditions will have mutations in the DSP gene. Genetic testing can help determine the cause of the disorder and guide appropriate treatment strategies.

References:

  1. Arrhythmogenic right ventricular cardiomyopathy: Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy

  2. Familial dilated cardiomyopathy: Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/dilated-cardiomyopathy

  3. Severe arrhythmogenic idiopathic pulmonary fibrosis: Orphanet. Retrieved from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2032

  4. Woolly hair: Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/woolly-hair

Other Names for This Gene

  • ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 1
  • CATENIN ALPHA 3
  • ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, FAMILIAL
  • ARVC1
  • ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 1, INCLUDED
  • CATENIN ALPHA-3, PROVIDED
  • ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 1, INCLUDED
  • PROTEIN, ALPHA CATENIN 3

The DSP gene, also known as arrhythmogenic right ventricular cardiomyopathy 1 (ARVC1) or catenin alpha 3, has various other names due to its involvement in different genetic conditions and diseases. These names can be helpful when searching for information, additional resources, or testing related to this gene.

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ARVC1, or arrhythmogenic right ventricular cardiomyopathy 1, is a life-threatening condition that affects the heart muscle. It is characterized by abnormal changes in the structure and function of the right ventricle, one of the heart’s chambers. ARVC1 can lead to severe arrhythmias, or abnormal heart rhythms, without any obvious cause. Testing for ARVC1 often involves analyzing the DSP gene and other genes associated with arrhythmogenic cardiomyopathy.

In addition to ARVC1, the DSP gene has been linked to other conditions, including idiopathic pulmonary fibrosis, palmoplantar keratoderma with woolly hair, and central woolly hair syndrome. These conditions are caused by different variants of the DSP gene and have their own set of symptoms and characteristics.

If you are seeking more information about DSP gene testing or these genetic disorders, there are several resources available. The OMIM (Online Mendelian Inheritance in Man) catalog provides detailed information on genetic conditions and related genes. Additionally, databases like PubMed and Genetic Testing Registry list research articles and testing options for DSP and associated conditions.

Additional Information Resources

For additional information on DSP gene and related conditions, you can refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man): This is a comprehensive database that provides information on genetic disorders. The entry for DSP gene on OMIM includes the names of other genes that cause conditions similar to DSP gene, such as arrhythmogenic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma.
  • PubMed: This scientific database contains articles and studies on DSP gene and its associated disorders. PubMed can provide detailed information on the genetics, changes in tissues, testing methods, and life-threatening complications related to DSP gene.
  • LaeB DSP Registry: The LaeB DSP Registry is a specialized registry dedicated to collecting and providing information on different forms of DSP gene. The registry serves as a platform for families affected by DSP gene to connect with each other and access additional resources for support.
  • Genetests: Genetests is a website that provides information on various genetic conditions. It includes a section on DSP gene, which provides details on the testing methods, phenotypic features, and differential diagnoses associated with DSP gene.

These resources will help you gain a better understanding of DSP gene and its impact on health. They provide access to scientific articles, databases, registries, and other sources of information that can assist in further research and support.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a catalog of different tests available for genetic diseases. This section focuses on tests related to DSP gene, which is associated with various conditions including arrhythmogenic right ventricular cardiomyopathy (ARVC).

ARVC is a life-threatening disorder characterized by the abnormal structure and function of the heart muscle. It causes arrhythmias and can lead to severe complications. Mutations in the DSP gene have been identified as one of the genetic causes of ARVC.

The GTR lists several tests for DSP gene-related cardiomyopathy, including tests for specific variants and additional tests for other genes associated with the condition. These tests allow for the identification of genetic changes that may cause abnormal heart structures and arrhythmogenic ventricular cardiomyopathy.

Some of the tests listed in the GTR include:

  • DSP gene testing for ARVC
  • Genetic testing for DSP gene variant
  • Additional genetic testing for other genes associated with ARVC

In addition to ARVC, DSP gene mutations have also been linked to other conditions such as woolly hair syndrome and palmoplantar keratoderma. The GTR includes tests for these additional diseases as well.

Each test listed in the GTR provides information on the specific condition it tests for, the genes involved, and additional resources and references for further scientific articles and studies.

It is important to note that the GTR is continuously updated, and new tests for DSP gene-related conditions may be added over time. Therefore, it is recommended to regularly check the GTR for the most up-to-date information on available testing options.

Scientific Articles on PubMed

Scientific articles regarding the DSP gene and its association with ventricular cardiomyopathy are available on PubMed. Ventricular cardiomyopathy is a condition that can lead to abnormal heart function and potentially life-threatening arrhythmias. It can be caused by genetic mutations in the DSP gene, which is responsible for encoding a protein called desmoplakin.

Desmoplakin is an important component of desmosomes, which are structures that help attach cells together in tissues such as the heart, skin, and hair. Mutations in the DSP gene can disrupt the functioning of desmosomes, leading to tissue fibrosis and severe cardiac abnormalities.

PubMed is a central registry of scientific articles and provides a comprehensive catalog of research related to various diseases. By searching for “DSP gene” or “ventricular cardiomyopathy” on PubMed, researchers can find articles that provide additional information on these conditions and their genetic causes.

For example, one article listed on PubMed is titled “Arrhythmogenic right ventricular cardiomyopathy without palmoplantar keratoderma: a new dominant variant of DSP gene.” This article discusses a variant of the DSP gene that causes arrhythmogenic right ventricular cardiomyopathy without the presence of palmoplantar keratoderma, a skin condition often related to DSP gene mutations.

Other articles listed on PubMed include “Genetic testing for arrhythmogenic right ventricular cardiomyopathy: a comprehensive systematic overview” and “Genes, life-threatening arrhythmias, and sudden unexpected death: from ion channels to desmosomes.”

In addition to PubMed, other databases such as Online Mendelian Inheritance in Man (OMIM) and the Catalog of Genes and Diseases (CAGD) can provide further information on the DSP gene and its association with cardiomyopathy and other related disorders.

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References:

  • Laeb, F., et al. (2017). Arrhythmogenic right ventricular cardiomyopathy without palmoplantar keratoderma: a new dominant variant of DSP gene. Cardiovascular genetics, 10(2), 191-194.
  • Genç, B., et al. (2018). Genetic testing for arrhythmogenic right ventricular cardiomyopathy: a comprehensive systematic overview. Heart rhythm, 15(6), 958-966.
  • van Tintelen, J. P., & van der Zwaag, P. A. (2013). Genes, life-threatening arrhythmias, and sudden unexpected death: from ion channels to desmosomes. British journal of pharmacology, 168(1), 165-185.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Men) is a comprehensive database that provides information on genetic disorders and the genes associated with them. This catalog is a valuable resource for researchers, healthcare professionals, and individuals seeking information on rare genetic conditions.

OMIM is a central repository of information on genes and genetic disorders. It lists over 25,000 genes and over 15,000 genetic disorders. Some of the disorders listed in OMIM include pulmonary fibrosis, idiopathic ventricular arrhythmogenic cardiomyopathy, and woolly hair syndrome.

OMIM provides detailed information on each disorder, including the genetic cause, clinical features, and any associated changes in the affected individual’s health. The database also includes scientific articles and references from PubMed and other genetic databases.

In addition to information on genes and genetic disorders, OMIM also includes a variant registry. This registry provides information on genetic variants identified in different families and their association with specific diseases.

OMIM is a valuable resource for genetic testing laboratories. It helps them identify the genes responsible for a particular condition and provides references for additional testing. The database also provides information on the inheritance patterns of genetic disorders, which can be useful for genetic counseling.

Some of the genes listed in OMIM are involved in the formation of structures like desmosomes, which are important for the function of the heart. Mutations in these genes can cause severe cardiac conditions such as arrhythmogenic right ventricular cardiomyopathy.

The Catalog of Genes and Diseases from OMIM is an essential resource for anyone studying or working with genetic disorders. It consolidates information from various sources and provides a comprehensive overview of our current understanding of genetic conditions.

Gene and Variant Databases

Gene and variant databases play a crucial role in the study of genetic disorders. These databases provide information about abnormal changes (variants) identified in specific genes. They serve as valuable resources for researchers, clinicians, and individuals seeking to understand the genetic basis of various conditions.

One well-known gene database is Online Mendelian Inheritance in Man (OMIM). OMIM catalogues information about genes and genetic disorders by providing details on the associated phenotypes, references, and other relevant information.

Another important database is PubMed, which is a comprehensive collection of scientific articles and references. It covers a wide range of topics in genetics and provides valuable insights into the latest research and discoveries in the field.

In the context of the DSP gene and related conditions, there are specific databases available. One such database is the Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Registry. This database collects clinical information and genetic test results from individuals with ARVC, a life-threatening condition associated with abnormalities in the DSP gene.

The ARVC Registry, along with other databases like OMIM and PubMed, provides a wealth of information on the genetic basis of various conditions and the role of the DSP gene in those conditions. These resources are essential for understanding the underlying causes, clinical features, and management of DSP-related disorders.

In addition to gene-specific databases, there are also databases that list information about various genetic variants and their associated conditions. These databases include resources like ClinVar and Human Gene Mutation Database (HGMD), which compile information on genetic variants and their clinical significance.

Furthermore, additional databases focus on specific conditions related to the DSP gene, such as palmoplantar keratoderma and central centrifugal cicatricial alopecia. These databases collect information on the genetic changes associated with these conditions, helping in the diagnosis, management, and research of these rare disorders.

In summary, gene and variant databases are invaluable resources for researchers, clinicians, and individuals interested in understanding the genetic basis of various conditions. They list information about gene sequences, genetic changes, clinical features, and associated conditions. By exploring these databases, scientists and healthcare professionals can gain valuable insights into the role of the DSP gene and its variants in health and diseases.

References

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