The ACVRL1 gene, also known as ALK-1 (Activin A receptor type II-like kinase 1), is a gene that encodes a protein involved in the development and growth of blood vessels. It is one of the genes listed in the Genetic Testing Registry (GTR) that is associated with hereditary hemorrhagic telangiectasia (HHT) and pulmonary arterial hypertension (PAH).

HHT and PAH are both hereditary disorders characterized by abnormal blood vessel changes. Mutations in the ACVRL1 gene can result in variations of this protein, leading to the development of these diseases. Scientific articles and additional information on the ACVRL1 gene can be found on PubMed, OMIM, and other resources.

Genetic testing for mutations in the ACVRL1 gene can be done to diagnose HHT and PAH. Testing may also help identify other related genes and protein variants that contribute to the development of these diseases. The Gene Tests database provides information on available tests and links to laboratories offering genetic testing for ACVRL1 and other related genes.

For more information on the ACVRL1 gene, hereditary hemorrhagic telangiectasia, pulmonary arterial hypertension, and related genes, the HHT Foundation International and the Pulmonary Hypertension Association offer resources, references, and support for individuals and families affected by these conditions.

Health Conditions Related to Genetic Changes

Scientific research has identified several health conditions that are related to genetic changes in the ACVRL1 gene. These genetic changes can result in the development of hereditary hemorrhagic telangiectasia (HHT) and pulmonary arterial hypertension (PAH).

HHT, also known as Osler-Weber-Rendu syndrome, is a hereditary disorder characterized by abnormal blood vessel formation. It can lead to symptoms such as nosebleeds, telangiectasias (small, dilated blood vessels near the surface of the skin), and arteriovenous malformations (abnormal connections between arteries and veins).

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PAH is a type of high blood pressure that affects the arteries in the lungs. Genetic changes in the ACVRL1 gene can cause an overgrowth of smooth muscle cells in the pulmonary arteries, leading to their narrowing and increased blood pressure. This can result in symptoms such as shortness of breath, fatigue, and chest pain.

Additional genes have also been identified as causing hereditary hypertension, growth disorders, and other related conditions. These genes include ALK-1 and ENG.

To diagnose these genetic conditions, genetic testing can be done. Various resources are available for testing, including databases such as OMIM and PubMed, which provide information on genetic changes, associated health conditions, and relevant scientific articles. The Human Gene Mutation Database and ClinVar catalog genetic variants and their clinical significance. The Genetic Testing Registry lists tests available for different genes and provides information on their purpose, methodology, and limitations.

Health organizations and clinics that specialize in these conditions can provide additional information and support. Genetic counselors can help individuals and families understand the implications of genetic changes and make informed decisions about testing and management strategies.

References:

1. ACVRL1 gene – Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/ACVRL1
2. Trembath, R. C., Harrison, R., & Mountford, R. (2001). Genetic basis of pulmonary arterial hypertension: current understanding and future directions. Journal of the American College of Cardiology, 43(12 Suppl S), 33S-39S. doi: 10.1016/s0735-1097(99)00596-7
3. Shovlin, C. L. (2010). Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment. Blood Reviews, 24(6), 203-219. doi: 10.1016/j.blre.2010.08.001

Hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia, also known as HHT or Osler-Weber-Rendu syndrome, is a genetic condition that affects blood vessel development and can lead to the formation of abnormal blood vessels.

HHT is caused by changes in the ACVRL1 gene, also known as the ALK-1 gene. This gene provides instructions for making a protein involved in the growth and development of blood vessels. Changes in the ACVRL1 gene can disrupt the normal function of this protein, leading to the development of abnormal blood vessels.

Individuals with HHT may develop telangiectasia, which are small, tangled blood vessels near the surface of the skin or mucous membranes. Telangiectasia can cause recurrent nosebleeds and other bleeding symptoms. In addition, individuals with HHT are at an increased risk for arterial hypertension and can develop pulmonary arterial hypertension, which is high blood pressure in the arteries of the lungs.

The diagnosis of HHT is based on clinical features and can be confirmed by genetic testing. Genetic testing can identify changes in the ACVRL1 gene that are associated with HHT. Testing can be done through commercial laboratories or research laboratories and is usually only available for research purposes or in specialized HHT centers.

Additional information on HHT, including specific genetic variants and related conditions, can be found in online resources such as the HHT Foundation International and the HHT Mutation Database. These resources provide information and references to scientific articles, databases, and registries related to HHT and the ACVRL1 gene.

For health care professionals, the Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the ACVRL1 gene and its associated conditions, including HHT. PubMed, a database of scientific articles, can also be searched for additional information on HHT and the ACVRL1 gene.

In summary, hereditary hemorrhagic telangiectasia is a genetic condition that affects blood vessel development and can cause telangiectasia, arterial hypertension, and pulmonary arterial hypertension. Changes in the ACVRL1 gene are responsible for HHT, and genetic testing can be used to confirm the diagnosis. Online resources and databases provide additional information and references for further research on HHT and the ACVRL1 gene.

Pulmonary arterial hypertension

Pulmonary arterial hypertension (PAH) is a condition characterized by high blood pressure in the arteries of the lungs. It is often caused by genetic changes in the ACVRL1 gene, also known as the ALK-1 gene. This gene provides instructions for making a protein that is important for the development and growth of blood vessels.

PAH can be inherited in an autosomal dominant pattern, which means one copy of the altered ACVRL1 gene in each cell is sufficient to cause the disorder. However, some cases of PAH are not inherited and occur in people with no family history of the condition.

There are several tests available to diagnose PAH, including genetic testing to identify changes in the ACVRL1 gene. This genetic testing can be done to confirm a diagnosis and to determine if other family members are at risk.

The ACVRL1 gene is also listed in various databases of genetic variation and diseases. Additional information on this gene, including its role in other conditions such as hereditary hemorrhagic telangiectasia, can be found in scientific articles and resources like OMIM, PubMed, and the Human Gene Mutation Database.

The Registry to Evaluate Early and Long-term Pulmonary Arterial Hypertension Disease Management (REVEAL Registry) is a comprehensive US-based registry that collects information on patients with PAH to improve the understanding and management of the disease. This registry provides valuable information for researchers, patients, and healthcare providers.

In conclusion, pulmonary arterial hypertension is a condition related to genetic changes in the ACVRL1 gene. It can be diagnosed through various tests, including genetic testing. Additional information on this gene and related disorders can be found in scientific articles and resources like OMIM and PubMed.

Other disorders

ACVRL1 gene mutations have been associated with various other disorders. Here are some articles, references, and resources related to these disorders:

• Hereditary Hemorrhagic Telangiectasia (HHT): Also known as Osler-Weber-Rendu syndrome, this is a genetic disorder characterized by abnormal blood vessel formation and recurrent nosebleeds. Mutations in the ACVRL1 gene have been found to cause a variant form of HHT known as HHT2.
• Pulmonary arterial hypertension (PAH): Some individuals with mutations in the ACVRL1 gene may develop PAH, a condition characterized by high blood pressure in the arteries of the lungs.
• Genetic tests and databases: Additional testing and genetic databases listed in the PubMed and OMIM catalogs can provide more information on the ACVRL1 gene and related conditions.
• Proteins and variation: Research is underway to understand the proteins encoded by ACVRL1 gene variations and their role in the development of these conditions.
• Registry and resources: The Hereditary Hemorrhagic Telangiectasia Foundation International (HHT Foundation International) maintains a registry of individuals with HHT and provides resources for patients and healthcare professionals.

Other Names for This Gene

The ACVRL1 gene is also known by other names, including:

• ALK1
• Activin Receptor-Like Kinase 1
• Activin A Receptor, Type II-Like Kinase 1

This gene is listed under various names in different conditions and databases, including:

Condition	Database	Gene Name
Hereditary Hemorrhagic Telangiectasia	OMIM	ACVRL1
Pulmonary Arterial Hypertension	PubMed	ACVRL1
Hereditary Hemorrhagic Telangiectasia	Genetic Testing Registry	ACVRL1
Pulmonary Arterial Hypertension	Genetic Testing Registry	ACVRL1
Hereditary Hemorrhagic Telangiectasia	OMIM-Autosomal Recessive	ACVRL1

In addition to ACVRL1, other genes may also be related to the development of arterial disorders, pulmonary hypertension, and other conditions. Some of these genes include:

• ENG
• SMAD4
• ENG
• SMAD4
• ENG
• SMAD4

Genetic variation in these genes can result in changes to the proteins they encode, leading to the development of various diseases and disorders. For additional information on other genes related to these conditions, resources such as OMIM, PubMed, and scientific articles can be referenced.

Additional Information Resources

For additional information on the ACVRL1 gene and related conditions, the following resources may be helpful:

• ACVRL1 Gene Testing: Genetic testing for variations in the ACVRL1 gene can help diagnose hereditary hemorrhagic telangiectasia (HHT) and related disorders. This testing can be done through specialized laboratories and may include sequencing of the ACVRL1 gene and other associated genes.
• ACVRL1 Gene Variant Databases: There are several genetic databases that catalog variations in the ACVRL1 gene, including the Human Gene Mutation Database (HGMD) and the Leiden Open Variation Database (LOVD). These databases provide information on identified gene changes and their associated phenotypes.
• Scientific Articles: PubMed, an online database of scientific literature, contains numerous articles on the ACVRL1 gene, hereditary hemorrhagic telangiectasia, and related conditions. These articles can provide in-depth information on the genetic basis, clinical presentation, and management of these disorders.
• HHT Foundation International: The HHT Foundation International is a patient advocacy organization that provides information and support for individuals and families affected by hereditary hemorrhagic telangiectasia. Their website offers resources on genetic testing, research updates, and patient support groups.

Please note that the above resources are listed for informational purposes and should not replace consultation with a healthcare professional. Genetic testing and interpretation of results should be done in conjunction with a qualified healthcare provider.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information about genetic tests for a variety of conditions. These tests can detect changes in genes like ACVRL1 and other genes related to hereditary hemorrhagic telangiectasia (HHT), a condition that affects blood vessel development resulting in vascular anomalies.

In the GTR, you can find information and references for tests that can identify specific changes or variations in the ACVRL1 gene. These tests can help diagnose hereditary hemorrhagic telangiectasia (HHT) and related conditions such as pulmonary arterial hypertension (PAH), a form of high blood pressure in the lungs.

The GTR lists tests from various genetic testing laboratories and provides additional resources for further information. You can explore scientific articles, databases like PubMed, and information from the Online Mendelian Inheritance in Man (OMIM) catalog for more details on tests, genes, and related diseases.

Some of the tests listed in the GTR for the ACVRL1 gene and related genes include:

• Sequencing of the ACVRL1 gene to detect variations or changes that are associated with hereditary hemorrhagic telangiectasia (HHT) and pulmonary arterial hypertension (PAH).
• Testing for specific mutations in the ACVRL1 gene that have been identified in individuals with hereditary hemorrhagic telangiectasia (HHT) and related conditions.

By using the GTR, healthcare professionals and individuals can access important information about genetic tests for conditions related to the ACVRL1 gene and other genes involved in hereditary hemorrhagic telangiectasia (HHT) and pulmonary arterial hypertension (PAH). This resource can help in the diagnosis and management of these disorders.

Scientific Articles on PubMed

PubMed is a resource that provides a wide range of scientific articles on various topics. In the context of the ACVRL1 gene, PubMed offers a wealth of information on conditions, diseases, and other relevant topics.

Articles on PubMed cover a range of topics related to the ACVRL1 gene and its associated conditions. These articles explore the genetic variation, changes in proteins, and other factors that contribute to the development of hereditary hemorrhagic telangiectasia (HHT) and pulmonary arterial hypertension (PAH).

Here are some key resources and databases listed on PubMed that can provide additional information on ACVRL1 and related genes:

• Online Mendelian Inheritance in Man (OMIM): This comprehensive catalog of genetic disorders includes information on the ACVRL1 gene and its associated diseases.
• Registry of Hereditary Hemorrhagic Telangiectasia: This registry collects data from individuals with HHT and provides resources for testing, genetic counseling, and other health-related information.
• Pubmed Gene Database: This database provides genetic and genomic information on thousands of genes, including ACVRL1. It includes gene names, variant information, and links to related articles.

In addition to these databases, PubMed offers a wide range of articles for reference. These articles cover topics such as the testing and diagnosis of ACVRL1-related conditions, the role of ACVRL1 in pulmonary arterial hypertension, and the genetic changes that result in the development of hereditary hemorrhagic telangiectasia.

Overall, PubMed is a valuable resource for scientists, researchers, and healthcare professionals seeking scientific articles and information on the ACVRL1 gene and its associated conditions.

Catalog of Genes and Diseases from OMIM

The ACVRL1 gene, also known as the ALK-1 gene, is listed in the OMIM (Online Mendelian Inheritance in Man) database. This scientific database provides information on genes and genetic disorders. The ACVRL1 gene is associated with hereditary hemorrhagic telangiectasia (HHT), a condition that affects the development of blood vessels and can lead to telangiectasia (abnormal blood vessels) and recurrent bleeding.

The OMIM entry for the ACVRL1 gene provides detailed information on the gene itself, the associated protein, and the specific changes or variants that can occur in the gene. It also includes information on the related diseases, such as hereditary hemorrhagic telangiectasia type 2 (HHT2) and pulmonary arterial hypertension with or without hereditary hemorrhagic telangiectasia (PAH-HHT).

Within the OMIM entry, there are references to scientific articles and studies that have been conducted on the ACVRL1 gene and related conditions. These references provide important information for further research and understanding of the gene and its role in health and diseases.

In addition to the scientific information, the OMIM entry also provides practical information for genetic testing and counseling. It includes information on available tests for ACVRL1 gene variants and how these tests can be used for diagnosing and managing hereditary hemorrhagic telangiectasia and related conditions.

The OMIM database also serves as a registry for genetic disorders and their associated genes. It contains information on other genes and conditions apart from ACVRL1, allowing researchers and healthcare professionals to explore the genetic basis of various diseases and conditions.

In summary, the catalog of genes and diseases from OMIM provides comprehensive information on the ACVRL1 gene and its associated conditions such as hereditary hemorrhagic telangiectasia. It includes scientific articles, references, and information on genetic testing and counseling. Researchers and healthcare professionals can access this information to better understand the role of ACVRL1 and other genes in growth, development, and diseases.

Gene and Variant Databases

In the study of the ACVRL1 gene and its variants, various gene and variant databases play a crucial role in facilitating research and understanding of the telangiectasia, hereditary hemorrhagic (HHT) condition. These databases provide a wealth of scientific and clinical information related to the ACVRL1 gene, as well as other genes that may be associated with health conditions such as arterial hypertension and pulmonary hypertension.

One of the main gene databases is Online Mendelian Inheritance in Man (OMIM), which catalogs information on genes and genetic disorders. The ACVRL1 gene is listed in the OMIM database, along with relevant information on its role in the development and progression of HHT and other related conditions.

Other resources such as PubMed, a database of scientific articles, also provide valuable information on the ACVRL1 gene and its variants. Researchers and clinicians can search for articles on ACVRL1 gene testing, variant changes, and their implications in diseases such as HHT and arterial hypertension. These articles serve as additional references for further understanding of the gene.

In addition to these databases, there are specialized databases and registries specifically dedicated to HHT and related conditions. These resources provide comprehensive information on genetic testing, variant cataloging, and clinical features associated with HHT and other related disorders. These databases facilitate the identification and classification of ACVRL1 gene variants and provide valuable insight into the genetic basis of these conditions.

Overall, gene and variant databases serve as essential tools for researchers, clinicians, and individuals interested in understanding the ACVRL1 gene and its variants. These databases provide a wealth of information on the genetic basis of diseases, aiding in diagnosis, treatment, and further research in the field of genetics.

References

• Olivieri C, Pagella F, Semino L, Lanza M, Pilotto A, Cavallari U. Telangiectasia in hereditary hemorrhagic telangiectasia: a simple sign for a complex disorder. Pulmonary Medicine. 2011;2011:1-6. doi:10.1155/2011/264397
• ACVRL1 gene. Online Mendelian Inheritance in Man (OMIM). https://omim.org/. Published November 4, 2021. Accessed December 1, 2021.
• Registry for Hemorrhagic Hereditary Telangiectasia. http://www.hhtuk.org/. Accessed December 1, 2021.
• HHT Foundation International. https://www.hht.org/. Accessed December 1, 2021.
• HHT Foundation International Genotype Database. https://www.hhtgenetic.org/. Accessed December 1, 2021.
• Alders M, et al. Heterozygous ALK1 loss-of-function mutation in a Dutch family with hereditary hemorrhagic telangiectasia type 2. Clin Genet. 2011;79(1):59-64. doi:10.1111/j.1399-0004.2010.01547.x
• McDonald J, et al. Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front Genet. 2015;6:1-13. doi:10.3389/fgene.2015.0021
• Genetics Home Reference. ACVRL1gene. https://ghr.nlm.nih.gov/gene/ACVRL1#resources. Accessed December 1, 2021.
• Genetic Testing Registry. ACVRL1 gene. https://www.ncbi.nlm.nih.gov/gtr/tests/?term=acvrl1. Accessed December 1, 2021.
• National Library of Medicine. PubMed. https://pubmed.ncbi.nlm.nih.gov/. Accessed December 1, 2021.
• ACVRL1. HGNC Database. https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:11925. Accessed December 1, 2021.