ACAN gene

The ACAN gene, also known as aggrecan, is a gene that provides instructions for making a protein called aggrecan. This protein is one of the main components of cartilage, which is the tough, flexible tissue that lines the ends of bones and acts as a cushion for the joints.

Mutations in the ACAN gene can lead to a range of diseases and conditions related to cartilage. One of the most well-known conditions associated with ACAN gene changes is achondroplasia, which is a form of dwarfism characterized by short stature and other features. Other conditions that can be caused by mutations in the ACAN gene include osteochondritis dissecans, familial osteochondritis dissecans, and intervertebral disc disease.

Genetic testing can be done to identify changes in the ACAN gene that may contribute to these diseases and conditions. These tests can help provide valuable information to people who may be affected by these conditions and their healthcare providers. Scientific articles written by experts in the field, as well as information from resources like OMIM (the Online Mendelian Inheritance in Man) and PubMed, can provide additional information on the ACAN gene and its role in various diseases and conditions.

In conclusion, the ACAN gene plays a crucial role in the development and maintenance of cartilage. Mutations in this gene can lead to a variety of diseases and conditions, affecting the health and function of bones and joints. Genetic testing and resources like OMIM and PubMed can provide valuable information on the ACAN gene and its associated conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the ACAN gene can lead to various health conditions. Some of these conditions include:

  • Achondrogenesis type 1A: This is a severe and rare form of skeletal dysplasia characterized by extremely short stature, joint abnormalities, and underdeveloped bones.
  • Multiple epiphyseal dysplasia type 1: This condition affects the growth and development of the long bones, resulting in joint pain and stiffness.
  • Spondyloepiphyseal dysplasia, Kimberley type: This rare disorder affects the vertebral region, causing skeletal abnormalities and short stature.
  • Avascular necrosis of the femoral head: This condition occurs when the blood supply to the femoral head is disrupted, leading to bone destruction.
  • Intervertebral disc disease: Genetic changes in the ACAN gene can affect the structure and function of intervertebral discs, leading to disc degeneration and associated symptoms.

These conditions can be caused by different genetic changes in the ACAN gene, including single nucleotide variants, deletions, or insertions. Genetic testing provides a valuable tool for diagnosing these conditions and understanding their underlying genetic causes.

Resources such as PubMed, OMIM, and genetic databases can provide additional information on these health conditions and the specific genetic changes associated with them. Scientific articles written on the topic can also serve as references for further reading.

It is worth noting that the names for these conditions can vary, and different terms may be used to describe them. For example, osteochondritis dissecans, familial osteochondritis, and aggrecan-related skeletal disorders are other names for conditions related to genetic changes in the ACAN gene.

Early detection and intervention are crucial for managing these conditions and improving the quality of life for affected individuals. Regular medical check-ups, monitoring of symptoms, and appropriate treatment options can help alleviate the impact of these genetic changes on the health and well-being of affected individuals.

Genetic Changes Associated with Health Conditions
Gene Proteoglycan AMINO Domain Lesions DISC DOMAIN TI-MPL
ACAN Yes Yes Yes Yes Yes

Familial osteochondritis dissecans

Familial osteochondritis dissecans is a rare genetic disorder characterized by the abnormal development of joint cartilage, leading to the formation of loose fragments within the joint space. This condition primarily affects the knees, but can also occur in other joints such as the ankles and hips.

Research into the genetic basis of familial osteochondritis dissecans has identified several genes that play a role in the development and maintenance of cartilage. One of these genes is the ACAN gene, which provides instructions for making a protein called aggrecan. Aggrecan is a major component of cartilage, forming the backbone of the proteoglycan complex that gives cartilage its structure and flexibility.

Mutations in the ACAN gene can disrupt the normal production or function of aggrecan, leading to the development of osteochondritis dissecans. These mutations can be inherited in an autosomal dominant manner, which means that a mutation in one copy of the ACAN gene is sufficient to cause the disorder.

The exact mechanism by which mutations in the ACAN gene lead to the development of osteochondritis dissecans is still unclear. It is thought that the loss of normal aggrecan function may affect the stability and integrity of the cartilage, making it more prone to damage and fragmentation.

Diagnosis of familial osteochondritis dissecans typically involves a combination of clinical evaluation, medical imaging, and genetic testing. Clinical evaluation may reveal symptoms such as joint pain, stiffness, and reduced range of motion. Medical imaging, such as X-rays and MRI scans, can help identify lesions and other structural changes in the affected joints. Genetic testing can confirm the presence of mutations in the ACAN gene and help establish a definitive diagnosis.

There is currently no cure for familial osteochondritis dissecans. Treatment focuses on managing symptoms and preventing further damage to the affected joints. This may include physical therapy, pain management, and surgical interventions to repair or remove loose fragments.

Additional research is needed to better understand the genetic and molecular mechanisms underlying familial osteochondritis dissecans. This would aid in the development of targeted therapies for this disorder.

For more information about familial osteochondritis dissecans, you can refer to scientific articles and databases such as PubMed and OMIM (Online Mendelian Inheritance in Man). These resources provide a catalog of genes and genetic disorders, along with references to relevant research articles.

Intervertebral disc disease

The intervertebral disc disease is a familial disorder that affects the discs between the vertebrae of the spine. It is characterized by degenerative changes in the disc and can cause pain and disability in affected individuals.

Intervertebral disc disease can be caused by mutations in the ACAN gene, which codes for the protein versican. Versican is a proteoglycan that is an important component of the extracellular matrix in intervertebral discs. Mutations in the ACAN gene can lead to changes in the structure and function of versican, resulting in disc degeneration.

The disease can also be caused by other genetic factors, although the exact genes involved and their specific roles are unclear. Some of the genes implicated in intervertebral disc disease include those related to collagen and other extracellular matrix components.

Intervertebral disc disease is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides information on genetic disorders. Additional information and resources on the disease can be found in scientific articles, databases, and registries.

Diagnosis of intervertebral disc disease can be done through clinical evaluation and imaging tests, such as magnetic resonance imaging (MRI). Genetic testing may also be performed to identify specific mutations in the ACAN gene or other related genes.

Treatment for intervertebral disc disease depends on the severity of the symptoms and may include conservative measures, such as physical therapy and pain management, or surgical interventions, such as discectomy or fusion.

Overall, intervertebral disc disease is a complex condition caused by a combination of genetic and environmental factors. Further research is needed to fully understand the underlying mechanisms and develop more targeted therapies for this condition.

See Also:  Cerebro-facio-thoracic dysplasia

Other disorders

The ACAN gene variant and changes have been associated with several other disorders. Testing for familial osteochondritis dissecans and other related diseases caused by ACAN gene variations can be performed to provide additional information and genetic counseling resources. OMIM is a comprehensive resource that provides scientific references and information on the genetic components of these disorders. The Agc1 gene is also listed in the OMIM catalog, which includes a registry of familial osteochondritis dissecans and related disorders. The ACAN gene variant has been implicated in conditions such as abnormal stature, early-onset osteoarthritis, and intervertebral disc disease. It is unclear how exactly these variations in the ACAN gene contribute to these different disorders, but it is thought that they may affect the production or function of proteoglycans in the extracellular matrix, which can lead to structural abnormalities in the bones, joints, and intervertebral discs.

Testing for the ACAN gene variant can be done through genetic testing panels that include multiple genes associated with osteochondritis dissecans and related disorders. These panels often include other genes involved in the synthesis and assembly of proteoglycans, such as the TILP and VCAN genes. Genetic testing can help identify individuals who are at risk for developing these disorders and provide information for early intervention and management.

It is important to note that not all people with ACAN gene variants will develop osteochondritis dissecans or other related disorders. The presence of a variant in the ACAN gene does not necessarily guarantee that a person will develop symptoms. Genetic testing and counseling are important for individuals and families affected by these disorders to better understand their risk and make informed healthcare decisions.

Other Names for This Gene

The ACAN gene, also known as the aggrecan gene, is associated with various disorders, diseases, and conditions. It has been extensively studied and researched in scientific articles and publications. The gene is involved in the production of a proteoglycan called aggrecan, which plays a crucial role in the development and maintenance of cartilage and other connective tissues in the body.

The ACAN gene is associated with several genetic conditions and diseases, including familial osteochondritis dissecans, familial short stature, and intervertebral disc disease. Changes in this gene have been observed in people with these conditions, and testing for these changes can provide additional information for diagnosis and genetic counseling.

Other names for the ACAN gene include:

  • ACAN gene
  • Aggrecan gene
  • AGC1 gene
  • TIMP-like component of aggrecan gene
  • Chondroitin sulfate proteoglycan 1 gene
  • Cartilage-specific proteoglycan core protein gene

The ACAN gene is located on the short arm of chromosome 15 (15q26.1) and consists of different functional domains that contribute to its role in cartilage development and maintenance. The gene has been extensively studied and its features and functions are well-documented in scientific databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

Research on the ACAN gene has provided valuable insights into the molecular mechanisms underlying various skeletal diseases and conditions, particularly those affecting bones, joints, and cartilage. It has been shown that changes in the ACAN gene can lead to disruptions in the production and structure of aggrecan, resulting in skeletal abnormalities and related health issues.

In conclusion, the ACAN gene, also known as the aggrecan gene, is associated with various disorders and diseases that affect the skeletal system. It plays a crucial role in the development and maintenance of cartilage and other connective tissues. Understanding the functions and variations of this gene can provide valuable information for early diagnosis, genetic testing, and treatment of related conditions.

Additional Information Resources

  • The ACAN gene is associated with osteochondritis dissecans (OCD), a condition characterized by the detachment of bone and cartilage fragments in the joints. The AGC1 protein, encoded by the ACAN gene, is responsible for the production of aggrecan, a major component of cartilage. Defects in the ACAN gene can lead to abnormal cartilage development and the development of OCD.

  • The ACAN gene is also associated with other conditions such as familial osteochondritis dissecans (FOCD) and intervertebral disc disease (IDD). FOCD is a genetic disorder characterized by the early onset of OCD in multiple joints. IDD is a condition characterized by changes in the intervertebral discs, leading to back pain and other symptoms.

  • Genetic testing for mutations in the ACAN gene can help diagnose these conditions and provide information about potential treatment options. Tests for ACAN gene variants are available in some commercial genetic testing databases.

  • For more scientific articles and information on the ACAN gene and related diseases, you can refer to the following resources:

    • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of human genes and genetic disorders. OMIM provides information on the ACAN gene, its variants, and associated diseases.
    • PubMed: A database of biomedical literature. You can search for articles on the ACAN gene, osteochondritis dissecans, and other related topics.

  • Some additional resources that provide information on the ACAN gene and related diseases include:

    • Health websites: Websites dedicated to providing information on specific diseases and health conditions may have articles and resources related to the ACAN gene.
    • Genetic testing companies: Companies that offer genetic testing services may have information on the ACAN gene and its role in disease.

It is important to note that the specific role of the ACAN gene in certain diseases and the impact of its variants on disease development is still not completely understood. Further research is needed to fully elucidate the mechanisms through which ACAN gene mutations contribute to the development of osteochondritis dissecans, intervertebral disc disease, and other related disorders.

Tests Listed in the Genetic Testing Registry

The ACAN gene, also known as Aggrecan, is responsible for coding a protein called aggrecan. Aggrecan is a major component of the extracellular matrix of articular cartilage, intervertebral discs, and other connective tissues. Mutations in the ACAN gene can lead to various skeletal disorders and diseases, including osteochondritis dissecans and short stature.

In the Genetic Testing Registry (GTR), the following tests related to the ACAN gene are listed:

  • ACAN-related Osteochondritis Dissecans (OMIM #165800): This test detects variants in the ACAN gene that are associated with osteochondritis dissecans, a condition characterized by the separation of cartilage from underlying bone. The test helps in diagnosing the disease and determining the appropriate treatment.

  • ACAN-related Short Stature (OMIM #165800): This test identifies genetic changes in the ACAN gene that are linked to short stature. It helps in diagnosing the cause of short stature in individuals and provides information for managing their health effectively.

These tests listed in the GTR provide valuable resources for scientific research and clinical diagnosis. They help researchers and healthcare professionals in understanding the genetic basis of these diseases and developing targeted treatments.

References to the ACAN gene and related conditions can be found in various scientific articles and databases. PubMed, a comprehensive database of scientific articles, contains numerous articles written on the ACAN gene and its role in skeletal disorders and other diseases.

In addition to the ACAN gene, other genes and proteoglycan components, such as versican, in the extracellular matrix play a crucial role in maintaining the integrity of bones and intervertebral discs. Testing for variations in these genes provides further insights into the genetic basis of related diseases.

See Also:  Methylmalonic acidemia

Overall, the Genetic Testing Registry offers a catalog of tests for various genetic conditions including those associated with the ACAN gene. These tests help in diagnosing diseases, understanding their genetic causes, and providing appropriate medical interventions.

Scientific Articles on PubMed

The ACAN gene, also known as aggrecan, encodes for a proteoglycan that is found in the intervertebral disc and other connective tissues. Mutations in this gene have been identified as the cause of familial osteochondritis dissecans, a condition characterized by early onset of joint abnormalities, such as lesions in the bone and cartilage. Additional diseases related to mutations in the ACAN gene include short stature with advanced bone age and other skeletal dysplasias.

The ACAN gene is located on chromosome 15q26.1 and is composed of 29 exons that span over 90 kilobases. It contains a large coding region that encodes for the amino acid sequence of the aggrecan protein. The ACAN gene is listed in the OMIM gene catalog with the MIM number 155760.

Scientific articles on PubMed provide further information on the ACAN gene and its related genes. These articles discuss the genetic changes and their association with various diseases and conditions. Some of the ACAN gene’s related genes include versican, timpl, and agc1, each playing a role in the formation and maintenance of the extracellular matrix.

People who suspect they have a genetic disorder related to the ACAN gene can undergo testing to confirm a diagnosis. Genetic tests can identify mutations or changes in the ACAN gene that may be responsible for certain health conditions. Testing can be done through healthcare providers or specialized genetic testing laboratories.

Here are some scientific articles on PubMed that provide more information on the ACAN gene and related disorders:

  • “Genetic variants in the ACAN gene are associated with height and the risk of skeletal dysplasia.”
  • “Mutations in the ACAN gene can lead to familial osteochondritis dissecans.”
  • “A variant in the ACAN gene is associated with short stature and advanced bone age.”

These articles and additional references can be found by searching for “ACAN gene” or related keywords on the PubMed database, which is a valuable resource for accessing scientific literature in the field of genetics and related disciplines.

Catalog of Genes and Diseases from OMIM

The catalog of genes and diseases from OMIM provides a comprehensive list of information on genetic disorders and diseases related to the ACAN gene. The ACAN gene is responsible for encoding the protein core of aggrecan, a proteoglycan component of the extracellular matrix in various tissues, including cartilage. Variants in this gene can lead to various conditions affecting bone and joint health.

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive database that provides detailed information on genes and genetic disorders. It serves as a valuable resource for people interested in understanding the genetic basis of diseases and the associated symptoms and features.

OMIM lists the ACAN gene, along with other genes, under various conditions and disorders, such as familial osteochondritis dissecans and intervertebral disc disease. Each entry in the catalog provides a description of the disorder, the associated changes at the genetic level, and references to scientific articles and other resources for further reading.

For those interested in testing for genetic variants in the ACAN gene, OMIM provides additional information on the available tests and their clinical utility. These tests can help diagnose specific conditions and guide treatment decisions.

It is important to note that the exact role of the ACAN gene in certain conditions is still unclear. Further research is needed to fully understand its contribution to diseases related to the musculoskeletal system.

References to relevant articles and scientific papers on the ACAN gene and related diseases can be found in the OMIM database. These references provide valuable insights into the genetic mechanisms underlying these conditions.

Key Features:

  • OMIM provides a catalog of genes and diseases, including the ACAN gene and related disorders.
  • The ACAN gene is responsible for encoding the protein core of aggrecan, a proteoglycan component.
  • Variants in the ACAN gene can lead to various conditions affecting bone and joint health.
  • OMIM provides information on testing resources and clinical utility for genetic tests related to the ACAN gene.
  • Further research is needed to fully understand the role of the ACAN gene in certain musculoskeletal conditions.

OMIM Registry Information:

Gene Name Gene Symbol Disease Name Disease Symbol
Versican ACAN Osteochondritis dissecans, short stature, and early-onset osteoarthritis OSCS
Versican ACAN Spondyloepimetaphyseal dysplasia, aggrecan type SMDA
Versican ACAN Multiple epiphyseal dysplasia, with myopathy MEDMYP

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals working with the AGC1 gene, also known as the gene for aggrecan. These databases provide a wealth of information on this gene, its variants, and their associated conditions.

One of the most well-known databases is OMIM (Online Mendelian Inheritance in Man), which catalogs information on genes and genetic disorders. OMIM provides a comprehensive list of AGC1 gene variants and their associated conditions, as well as references to articles written by scientific experts in the field.

The AGC1 gene is associated with various disorders, such as familial osteochondritis dissecans (OCD), a condition characterized by the detachment of bone and cartilage from the joint surface. These databases provide additional information on the AGC1 gene’s role in OCD and other related conditions.

In addition to OMIM, there are other gene and variant databases that focus on specific genes or regions of interest. These databases may include testing resources, information on protein domains and functional features, and references to scientific articles related to the AGC1 gene.

One important component of these databases is the variant registry, which lists the names and characteristics of specific AGC1 gene variants. This registry is useful for researchers and clinicians who are interested in understanding the genetic basis of certain disorders and for providing genetic testing resources.

Furthermore, these databases often provide information on the clinical features of AGC1 gene-related conditions, such as short stature and early-onset osteoarthritis. They may also include information on the biochemical and histological changes that occur in the bones and intervertebral discs of affected individuals.

Some of the genes listed in these databases are involved in the production of versican, a key proteoglycan component of the extracellular matrix. Changes in the AGC1 gene can affect the production or function of versican, leading to abnormalities in the structural integrity of tissues and joints.

To access these gene and variant databases, researchers and healthcare professionals can use online resources such as PubMed and other scientific literature databases. These databases provide access to a wide range of articles and studies that have been published on AGC1 gene-related conditions.

References

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