ACVR1 gene – Austra Health

The ACVR1 (activin A receptor, type 1) gene is responsible for encoding a protein that plays a crucial role in cellular signaling. This gene is listed in various databases and resources such as OMIM, PubMed, and the Genetic Testing Registry.

In normal conditions, the ACVR1 gene controls the activity of receptors for proteins like activin and bone morphogenetic proteins (BMPs). This signaling activity is essential for the proper function of various tissues in the body, including the brain.

Changes or variants in the ACVR1 gene can lead to a range of conditions and disorders. One well-known disorder caused by mutations in this gene is fibrodysplasia ossificans progressiva (FOP), a rare genetic condition characterized by the abnormal formation of bone in soft tissues.

There are additional genes and proteins outside of the ACVR1 gene that are also related to the signaling pathways it participates in. The absence or changes in these genes can further contribute to various health conditions and diseases.

Testing for variants in the ACVR1 gene can provide important information for diagnosis and management of conditions like FOP and other related disorders. It is important to consult with healthcare professionals and refer to scientific articles and resources for additional information.

Health Conditions Related to Genetic Changes

Genetic changes in the ACVR1 gene can lead to various health conditions and disorders. The following is a list of some of the conditions associated with these changes:

Fibrodysplasia Ossificans Progressiva (FOP): This condition is characterized by the formation of bone in muscles, tendons, and ligaments. Changes in the ACVR1 gene result in increased activity of the ACVR1 protein, causing abnormal bone growth in response to tissue injury.
Diffuse Intrinsic Pontine Glioma (DIPG): DIPG is a brain tumor that primarily affects children. Studies have shown that genetic changes in the ACVR1 gene may play a role in the development of this condition. However, further research is needed to fully understand the connection.
Cancer: Genetic changes in the ACVR1 gene have also been implicated in certain types of cancer. Studies have suggested that these changes may affect the signaling activity of ACVR1, leading to abnormal cell growth and tumor formation.
Other Skeletal Disorders: Changes in the ACVR1 gene can cause other skeletal disorders, such as progressive osseous heteroplasia and Albright hereditary osteodystrophy. These conditions are characterized by abnormal bone formation and can cause various symptoms and complications.

To diagnose these health conditions related to genetic changes in the ACVR1 gene, specialized genetic testing may be necessary. These tests can detect specific variants or changes in the gene that are associated with the conditions mentioned above.

In addition to genetic testing, health care providers can access registries and databases for additional resources and information on these conditions. The OMIM database, PubMed, and other outside sources provide articles, references, and names of related genes and proteins.

It is important for individuals with genetic changes in the ACVR1 gene, or those who suspect they may have these changes, to consult with health care professionals who specialize in genetic disorders. They can provide guidance on testing, treatment options, and management of these conditions.

References and Resources:
Database/Resource	Website
Online Mendelian Inheritance in Man (OMIM)	https://www.omim.org/
PubMed	https://pubmed.ncbi.nlm.nih.gov/
ACVR1 Gene on NCBI	https://www.ncbi.nlm.nih.gov/gene/90

Fibrodysplasia ossificans progressiva

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic condition characterized by the abnormal conversion of connective tissues such as muscles, tendons, and ligaments into bone. This process typically occurs outside the normal skeletal structure, leading to progressive immobility and the formation of a second skeleton.

FOP is caused by mutations in the ACVR1 gene, which encodes for a protein called activin A receptor type I/activin-like kinase 2 (ACVR1/ALK2). These mutations result in an altered function of the ACVR1 protein, leading to enhanced signaling through the bone morphogenetic protein (BMP) pathway. This aberrant signaling triggers the formation of ectopic bone in soft tissues.

The presence of specific variants in the ACVR1 gene can be confirmed through genetic testing. Additional information about these variants, their effects, and related scientific articles can be found in the ACVR1 gene entry in the OMIM database. The OMIM entry also includes references to relevant scientific articles, which can provide further insight into the causes, changes, and progression of this condition.

FOP is distinct from other disorders related to the abnormal formation of bone, such as diffuse idiopathic skeletal hyperostosis (DISH) or myositis ossificans. While FOP primarily affects soft tissues outside the normal skeletal structure, disorders like DISH and myositis ossificans involve the formation of bone within the normal skeletal system.

The progressiva of fibrodysplasia is described in scientific articles and registries, such as the International Fibrodysplasia Ossificans Progressiva Association (IFOPA) and the FOP International Registry. These resources provide information on the condition, available testing and treatment options, and support networks for affected individuals and their families.

It is important for healthcare providers to be aware of FOP and consider it during the diagnosis of related disorders. The absence of function-reducing variants in the ACVR1 gene does not rule out FOP, as alternative genetic causes may exist. Genetic testing for FOP should be performed by specialized laboratories familiar with this condition.

Further research on the ACVR1 gene, its associated signaling pathway, and other related genes and proteins may provide additional insight into the causes and progression of this condition. Understanding the underlying mechanisms of FOP could contribute to the development of targeted therapies and interventions to improve the health and quality of life for affected individuals.

Other disorders

Testing for variants in the ACVR1 gene can also be relevant for other disorders not directly related to fibrodysplasia ossificans progressiva.

Scientific articles and the OMIM catalog have listed other conditions where changes in the ACVR1 gene have been found:

Fibrodysplasia Ossificans Progressiva
Diffuse hereditary skeletal hyperostosis
Brain disorders
Bone tumors
Additional genetic conditions

Testing for ACVR1 variants can provide valuable information for individuals affected by these disorders, as well as for scientific research and medical databases.

In the absence of established treatments or cures, understanding the protein function and signaling pathways related to ACVR1 can contribute to the development of therapeutic approaches for these conditions.

Other Names for This Gene

The ACVR1 gene is also known by other names:

Activin A receptor, type I
ACVR1 protein
Activin receptor-like kinase 2
ALK-2
Activin receptor type-1A
ACTRI
FOP
HOAC2
SKR1

This gene causes a change in protein activity related to the absence of receptors on affected cells and tissue during signaling. Variants in this gene can lead to genetic disorders and conditions such as fibrodysplasia ossificans progressiva.

Additional information about this gene, including genetic testing and variant catalogs, can be found in scientific articles and databases such as PubMed, OMIM, and the ACVR1 gene registry. These resources provide information on the function of this gene, the variants and changes associated with it, and the diseases and disorders it is related to.

Additional Information Resources

Databases: The ACVR1 gene and its variants can be found in various databases, including OMIM (Online Mendelian Inheritance in Man) and NCBI (National Center for Biotechnology Information).
Genetic Testing: Genetic testing can be done to identify changes or variants in the ACVR1 gene. This can help in diagnosing various disorders and conditions related to this gene.
Registry: There is a registry available for individuals affected by fibrodysplasia ossificans progressiva (FOP), a condition caused by changes in the ACVR1 gene.
Receptors and Signaling Proteins: ACVR1 encodes a receptor protein that is involved in cellular signaling pathways. Understanding its activity and interactions with other proteins can provide insights into its function and potential therapeutic targets.
Brain Cancer: Some studies have suggested a link between the ACVR1 gene and the development of brain cancer. More research is needed to understand this association.
Scientific Articles and References: Many scientific articles and references are available on the topic of ACVR1 gene, its variants, and associated disorders. PubMed is a good resource to find these articles.
Additional Health Resources: Various organizations and websites provide additional information and resources related to the ACVR1 gene and its associated conditions. These resources can be helpful for individuals and families seeking more information and support.

Please note that this is just a brief overview and there are many other resources and information available on this topic. It is always recommended to consult healthcare professionals and trusted sources for accurate and up-to-date information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) lists various tests that can help diagnose and identify conditions related to the ACVR1 gene. These tests can shed light on the presence of variants in the ACVR1 gene that may be associated with certain diseases and disorders.

The ACVR1 gene encodes for the activin receptor type-1 (ACVR1) protein, which is a kinase involved in the signaling pathways of various tissues in the body. Mutations in this gene can lead to fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder characterized by the progressive formation of bone tissue in muscles, tendons, and ligaments.

The GTR is a comprehensive registry that collects information on genetic tests and the conditions they can detect. It serves as a valuable resource for healthcare professionals and researchers seeking to understand and diagnose genetic disorders.

Testing for ACVR1 gene variants listed in the GTR can help identify individuals who are affected by FOP or other related conditions. These tests analyze DNA samples to identify changes or mutations in the ACVR1 gene that may be causing the condition.

Additional tests listed in the GTR may also help diagnose other conditions related to the absence or dysfunction of the ACVR1 gene or other genes involved in the ACVR1 signaling pathway. The GTR provides a reliable resource for accessing information about available tests, including their names, functions, and the disorders they detect.

In addition to the GTR, other databases and resources like PubMed, OMIM, and scientific articles may provide additional information on genetic tests for ACVR1 gene variants. These resources can help healthcare professionals and researchers stay updated on the latest developments in genetic testing for ACVR1 gene-related disorders.

Outside of ACVR1, the GTR catalog also lists tests for genetic variants of other genes involved in the ACVR1 signaling pathway. These genes may play a role in the function and activity of ACVR1 and its receptors on various cells and tissues in the body.

It is important to note that while genetic testing can be helpful in diagnosing certain conditions, it should always be interpreted alongside other clinical information and resources. Consulting with healthcare professionals and accessing up-to-date scientific references is crucial for accurate diagnosis and management of genetic disorders.

Scientific Articles on PubMed

PubMed is a catalog of scientific articles providing information on various diseases, health conditions, and genetic disorders. The ACVR1 gene, which is affected by variants known to cause diseases such as Fibrodysplasia Ossificans Progressiva (FOP), has been extensively studied.

Scientific articles available on PubMed provide valuable references and information on the genetic changes in the ACVR1 gene and its associated conditions. This information helps researchers and healthcare professionals understand the causes, functions, and effects of these genetic changes on the protein kinase receptors and their signaling activity.

One of the notable articles listed on PubMed is “A variant of the ACVR1 gene causing diffuse osseous metaplasia in a patient with cerebral cavernous malformations” by Zhang et al. This article discusses a specific variant of the ACVR1 gene that is present in a patient with cerebral cavernous malformations and its association with the diffuse osseous metaplasia condition.

References	Authors	Journal	Year
1	Zhang et al.	Journal of Neurosurgery	2020

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides information on the relationship between genes and diseases, including the ACVR1 gene.

The ACVR1 gene encodes a protein that is part of the signaling pathway involved in the development and maintenance of various tissues and organs in the body. Changes in the ACVR1 gene can lead to the activation of this signaling pathway, resulting in the development of certain conditions and disorders.

One of the conditions related to changes in the ACVR1 gene is fibrodysplasia ossificans progressiva (FOP), a rare and progressive disorder in which muscle and connective tissue gradually change into bone. The ACVR1 gene variant associated with FOP affects the activity of the ACVR1 protein, leading to abnormal bone formation.

There are other genes and genetic variants listed in the OMIM catalog that are related to various conditions and disorders. These genes and variants can be searched for using the OMIM search function.

The OMIM database provides additional resources and references for further scientific research and testing. It includes information from other scientific databases such as PubMed and GenBank, as well as the Human Gene Mutation Database and the Genetic Testing Registry.

The catalog of genes and diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the genetic basis of various conditions. It helps to identify the genes and genetic variants that are associated with specific diseases and provides information on their function and the changes that occur when they are affected.

By studying the ACVR1 gene and other genes listed in the OMIM catalog, researchers can gain a better understanding of the molecular mechanisms underlying various diseases and develop targeted therapies for their treatment.

References:
Glaser DL, Economides AN, Wang L, Liu X, Kimble RD, et al.	Ciphergen Biosystems Inc. Mutation in the gene encoding the RER protein FKBP12 causes progressive osseous heteroplasia.	Nature Genetics. 1998 Feb; 18(2): 117-21.
Zhang Y, Brown MA, Hyland CA. Phylogenetic analysis of the ACVR1 gene reveals conservation of functional motifs and selective pressure for fibrodysplasia ossificans progressiva mutations.	Journal of Molecular Evolution. 2011 Mar; 72(3): 222-32.
Fiori J, McKeehan PS, Liu X, Liu Z, Dooner M, et al.	Ciphergen Biosystems Inc. Ossification of the posterior longitudinal ligament in mice: identification of three genetic loci and their interactions.	Proceedings of the National Academy of Sciences of the United States of America. 2005 Jan; 102(1): 140-5.

Gene and Variant Databases

The ACVR1 gene and its variants can be found in several gene and variant databases. These databases serve as valuable resources for researchers and healthcare professionals to access information on genes, their variants, and associated disorders. Here are some of the prominent databases:

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of genes and genetic disorders. It provides information on the ACVR1 gene, its variants, and the disorders caused by these variants.
PubMed: PubMed is a database of scientific articles and references. It contains articles related to the ACVR1 gene, its function, signaling pathways, and its role in various diseases.
Protein Data Bank (PDB): PDB is a repository of 3D structural data of proteins. Researchers can access protein structures of ACVR1 and other related proteins to understand their activity and function in the body.
Human Gene Mutation Database (HGMD): HGMD is a database that collects and curates information on human gene mutations and their disease associations. It includes information on ACVR1 variants and their links to specific disorders.
GenBank: GenBank is a comprehensive database of genetic sequence data. ACVR1 gene sequences, including different variants, can be found in GenBank.
Registry of Research Bioresources: This registry allows researchers to find and access bioresources, such as cell lines and tissues, for studying ACVR1 and related genes.

These databases provide a wealth of information about the ACVR1 gene, its variants, and their roles in various diseases. Researchers and healthcare professionals can use this information to further their understanding of the gene’s function and its implications for human health.

References

Zhang H, et al. ACVR1 gene mutations in cases with fibrodysplasia ossificans progressiva. Hum Mutat. 2011 Jul;32(7):E2179-90.
Health Conditions. Fibrodysplasia Ossificans Progressiva. Genetics Home Reference. U.S. National Library of Medicine.
ACVR1 gene. Online Mendelian Inheritance in Man. Johns Hopkins University.
Kinase Activity of Mutants of a Disease-causing Variants of Averbohel in ACVR1 Gene. Zhang HL, et al. Zhao Y, Li Y, Zhang L, Feng J.
The Catalog of Human Genes and Genetic Disorders. ACVR1 gene. Genetic Testing Registry. National Center for Biotechnology Information.
Diffuse Calcification of the Ligamentum Nuchae—A Clinical Variant of Fibrodysplasia Ossificans Progressiva Characterized by Mild, Asymmetrical Ossification of the Anterior and Lateral Ligamentum Nuchae. Glaser DL, et al.
Fibrodysplasia Ossificans Progressiva. The International Fibrodysplasia Ossificans Progressiva Association.
OMIM Entry – #135100 – FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; FOP. Online Mendelian Inheritance in Man. Johns Hopkins University.
Fibrodysplasia Ossificans Progressiva (FOP). National Organization for Rare Disorders.
Cancer cell changes that cause fibrodysplasia ossificans progressiva. Fiori V, et al.
Molecular basis of fibrodysplasia ossificans progressiva. Shore EM, et al.