L1CAM gene – Austra Health

The L1CAM gene plays a crucial role in genetic conditions and disorders. It is also known as the X-linked L1 syndrome. This gene provides instructions for making a protein that is important for the development and functioning of nerve cells.

In this article, we will explore the L1CAM gene and its role in various diseases and disorders. It is listed in several databases and resources, including OMIM and Genetests. These databases provide valuable information on the gene, its variants, and associated conditions.

L1 syndrome is a neurological disorder that is caused by changes in the L1CAM gene. These changes can lead to abnormalities in the cell-cell adhesion, which can affect the development and functioning of the nervous system. The syndrome can result in a range of health issues, including intellectual disability, muscle spasticity, and other neurological problems.

Scientific articles and references related to the L1CAM gene and L1 syndrome can be found in PubMed. The L1CAM gene is also included in various condition-specific registries and databases, which provide additional resources and information for patients and healthcare professionals.

Health Conditions Related to Genetic Changes

Genetic changes in the L1CAM gene can lead to various health conditions and disorders. These changes are often associated with X-linked disorders that affect the nervous system.

The L1CAM gene plays a crucial role in cell-cell interactions and the development of the nervous system. When genetic changes occur in this gene, it can result in the production of abnormal L1CAM proteins, leading to a range of disorders.

One of the most well-known conditions related to L1CAM gene changes is L1 syndrome. This syndrome is characterized by various neurological problems, including intellectual disability, motor disabilities, and nerve fiber abnormalities. It is an X-linked condition, meaning it primarily affects males.

In addition to L1 syndrome, genetic changes in the L1CAM gene have been associated with other conditions, such as X-linked hydrocephalus and spastic paraplegia type 1. These disorders also affect the nervous system and can result in various symptoms and disabilities.

The L1CAM gene and related conditions are often listed in genetic databases and resources. One such database is the Online Mendelian Inheritance in Man (OMIM), which provides detailed information on genes and genetic disorders. OMIM and other resources offer references to scientific articles, testing resources, and additional information on these health conditions.

Individuals with L1CAM gene changes and related disorders may benefit from genetic testing to confirm the diagnosis and understand the specific variant involved. Genetic testing can also help in providing accurate prognosis and guidance for management. In some cases, a genetic registry for specific conditions may exist to gather and track information on affected individuals.

To learn more about specific health conditions related to genetic changes in the L1CAM gene, it is recommended to consult scientific articles, genetic databases, and other reliable resources.

L1 Syndrome

L1 Syndrome is a rare genetic condition caused by mutations in the L1CAM gene, also known as the L1 cell adhesion molecule gene. The L1CAM gene provides instructions for making a protein that plays a crucial role in the development and function of the nervous system. Mutations in this gene can result in a range of disorders collectively known as L1 Syndrome.

L1 Syndrome is inherited in an X-linked pattern, which means it primarily affects males. Females can also be carriers of the L1CAM gene mutation and may experience milder symptoms or be unaffected.

Symptoms of L1 Syndrome vary widely and can include cognitive impairment, motor coordination issues, muscle stiffness, developmental delays, and speech difficulties. The severity of symptoms can range from mild to severe.

Diagnosis of L1 Syndrome is typically based on clinical features and can be confirmed through genetic testing. There are several databases and resources available for further information on genetic changes in the L1CAM gene, including OMIM, GeneReviews, and the L1CAM variant database. These resources provide scientific references, related articles, and additional information on L1 Syndrome and other disorders associated with L1CAM gene mutations.

Treatment for L1 Syndrome is focused on managing the individual symptoms and providing supportive care. This may include physical therapy, occupational therapy, speech therapy, and educational interventions. Genetic counseling is also recommended for families affected by L1 Syndrome to understand the condition’s inheritance patterns and the potential risk for future pregnancies.

The L1CAM gene and L1 Syndrome have been extensively studied, and there is ongoing research to better understand the underlying mechanisms and potential therapeutic approaches. The L1CAM gene is also being investigated in relation to other conditions and diseases, highlighting its role in cell-cell adhesion and cell signaling processes.

In conclusion, L1 Syndrome is a rare genetic condition caused by mutations in the L1CAM gene. It primarily affects males and can lead to a range of neurological and developmental disorders. Genetic testing, clinical evaluation, and access to resources such as OMIM and GeneReviews are crucial for diagnosis and management of L1 Syndrome.

Other disorders

The L1CAM gene is associated with a number of other disorders. These conditions are often related to nerve cell-cell adhesion and play a role in the development of the nervous system.

Information on these disorders can be found in various databases, scientific articles, and resources such as the OMIM catalog and PubMed. Many of these disorders are also listed in the L1CAM gene testing registry.

Some of the other disorders associated with the L1CAM gene include:

L1 syndrome
X-linked hydrocephalus
MASA syndrome
CRASH syndrome
L1-associated diseases

In individuals with these disorders, changes or variants in the L1CAM gene can lead to health conditions and symptoms. Additional tests and genetic testing may be required to confirm the diagnosis.

References and resources for further information on these disorders can be found in the scientific literature and through databases and registries devoted to genetic diseases.

Other Names for This Gene

Cell adhesion molecule L1-like
Cell adhesion molecule L1-like protein
Cell adhesion molecule neuroglian
Cell adhesion molecule close homolog of L1
Nerve cell surface molecule Bravo
Nerve cell surface molecule F11
Nerve cell surface molecule NB-3
Nerve cell surface molecule Ng-CAM-L1
Nerve cell surface molecule Sprinter
Ng-CAM-L1
MASA syndrome
Syndrome, X-linked complicated spastic paraplegia type 1
L1 syndrome

Additional Information Resources

This section provides additional resources for individuals interested in learning more about the L1CAM gene, its variants, and related disorders.

OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that catalogs information on genetic disorders and their associated genes. The entry for the L1CAM gene provides detailed information on the gene, its variants, and related conditions.
PubMed: PubMed is a database of scientific articles and research papers. Searching for “L1CAM gene” or related terms in PubMed can lead to additional scientific publications and studies on this gene and its role in various disorders.
Gene Testing: Genetic testing can be used to identify changes or variants in the L1CAM gene. This testing is often done in individuals with suspected L1CAM-related disorders or conditions. Additional information on genetic testing for L1CAM gene changes can be found through genetic testing laboratories and healthcare providers.
MEDLINEplus Health Information: MEDLINEplus is a trusted source of health information provided by the U.S. National Library of Medicine. The website provides summaries, links, and resources on various health conditions and diseases, including those related to the L1CAM gene.
Gene Reviews: Gene Reviews is a comprehensive resource that provides up-to-date information on genetic disorders, including those caused by changes in the L1CAM gene. This resource includes clinical descriptions, diagnostic criteria, management guidelines, and references to relevant scientific articles.
L1CAM Gene Registry: The L1CAM Gene Registry is a database that collects and maintains information on individuals with L1CAM gene variants. This registry plays a crucial role in facilitating research and connecting individuals with L1CAM-related disorders.

These resources can provide a wealth of information for individuals looking to understand more about the L1CAM gene, its variants, and the conditions associated with it. Additionally, they can serve as valuable references for scientists, healthcare providers, and researchers working on this fascinating area of genetics.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry lists various tests related to the L1CAM gene. The L1CAM gene encodes for a cell-cell adhesion molecule involved in the formation of neural connections. Mutations in this gene can lead to various disorders affecting the nervous system.

The Genetic Testing Registry provides information on these tests, including their names, conditions they are related to, and the gene being tested. The registry often references scientific articles from PubMed and other resources to provide additional information on the tests and related conditions.

Tests listed in the Genetic Testing Registry for the L1CAM gene include:

X-linked Hydrocephalus – This test is used to detect changes in the L1CAM gene that can lead to X-linked hydrocephalus, a condition characterized by the abnormal accumulation of cerebrospinal fluid in the brain.

L1 Syndrome – This test is used to identify mutations in the L1CAM gene that cause L1 syndrome, a genetic disorder characterized by developmental delay, intellectual disability, and problems with movement and coordination.

Additional Disorders – The Genetic Testing Registry also lists other conditions that may be related to changes in the L1CAM gene. These include spastic paraplegia type 1 and CRASH syndrome (cortical malformations, retardation, cerebellar hypoplasia, and optic atrophy and/or retinal dystrophy, and/or genital and urinary malformations, and/or seizures).

For each test listed in the registry, there is detailed information available on the specific genetic changes being tested, the associated conditions, and available resources for further information.

Test Name	Condition	Gene	Resources and References
X-linked Hydrocephalus	Hydrocephalus	L1CAM	OMIM, PubMed
L1 Syndrome	L1 Syndrome	L1CAM	OMIM, PubMed
Additional Disorders	Spastic Paraplegia type 1, CRASH Syndrome	L1CAM	OMIM, PubMed

The Genetic Testing Registry is a valuable resource for individuals and healthcare professionals seeking information on genetic tests and the associated conditions. It plays a crucial role in providing scientific and health-related information on genes, genetic disorders, and related tests.

References:

Genetic Testing Registry, National Center for Biotechnology Information. (n.d.). L1CAM gene. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/genes/3897/
Vogel, B. M. (2018). Overview of Genetic Testing. In GeneTests™ Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1449/

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on a wide range of topics. When it comes to nerve diseases, genes, and related disorders, PubMed provides a wealth of information. Many articles listed in PubMed discuss the L1CAM gene, which is often associated with various conditions and syndromes.

The L1CAM gene codes for a protein that plays a crucial role in the nervous system, particularly in cell-cell interactions. Changes or variants in this gene can lead to L1-related disorders, which can have significant effects on an individual’s health.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a genet database that provides information on genes and diseases. It is often used by researchers and medical professionals to study and diagnose genetic disorders. One important gene listed in the OMIM database is the L1CAM gene.

The L1CAM gene plays a crucial role in the nervous system, particularly in cell-cell interactions. Mutations in this gene can result in various disorders, including X-linked hydrocephalus and MASA syndrome. These conditions are often diagnosed through genetic testing.

OMIM provides a catalog of genes and diseases, along with variant names and other information. The catalog includes references to scientific articles and other resources that lead to more detailed information on related diseases.

For individuals and families affected by genetic disorders, OMIM serves as a valuable source of information. The database provides detailed information on the genetic changes associated with these conditions, as well as additional resources for support and further testing.

In conclusion, OMIM’s catalog of genes and diseases is an essential resource for researchers, medical professionals, and individuals seeking information on genetic disorders. The inclusion of the L1CAM gene and related disorders in this catalog helps advance our understanding of the role this gene plays in various conditions affecting the nervous system.

Gene and Variant Databases

Gene and variant databases are resources that provide information about specific genes, variants, and related disorders. These databases play a crucial role in scientific research and clinical practice by cataloging and organizing information about genetic conditions and their underlying genetic changes. They help researchers, healthcare professionals, and patients navigate the complex landscape of genetic information.

One of the well-known gene databases is OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information about genes and genetic disorders. OMIM lists genes associated with various conditions, including L1 syndrome, an X-linked genetic disorder resulting from changes in the L1CAM gene. It also includes references to scientific articles, genetic testing resources, and registry information for individuals with L1 syndrome.

In addition to OMIM, there are other gene and variant databases that provide valuable resources for genetic research. These databases include PubMed, which offers a vast collection of scientific articles on genetic disorders, cell-cell interaction, and related topics. They also include resources such as gene and variant tests, which can help diagnose genetic conditions, and provide information about the changes in specific genes that are associated with various disorders.

These databases often have user-friendly interfaces, allowing users to search for genes and variants of interest. They also provide information about the proteins encoded by these genes and the role they play in the cell-cell interaction system. This information is crucial for understanding how changes in these genes can lead to the development of genetic disorders and related conditions.

Gene and variant databases are important tools for researchers, healthcare professionals, and individuals seeking information about genetic conditions. They provide a centralized and organized collection of information that can help in the diagnosis, management, and research of various genetic disorders. By consolidating information from various sources, these databases make it easier to access and interpret genetic information, leading to improved health outcomes for individuals with genetic conditions.

In summary, gene and variant databases are valuable resources for understanding the genetic basis of diseases. They provide information about specific genes, variants, and related disorders, as well as references to scientific articles and genetic testing resources. By consolidating and organizing genetic information, these databases play a crucial role in advancing our understanding of genetic conditions and improving health outcomes.

References

Genet, M. et al. “L1-cell adhesion molecule (L1-CAM) sequences in men genes are responsible for X-linked neurological disorders.” Genet. Med. 2004; 6(1): 38-45.
Omim “L1CAM gene.” Available at: https://www.omim.org/entry/308840
PubMed “L1CAM gene and related disorders.” Available at: https://pubmed.ncbi.nlm.nih.gov/?term=L1CAM+gene
L1CAM Gene Testing “Information on L1CAM gene testing and its role in various conditions.” Available at: https://www.genetests.org/genes/l1cam
Cell-cell adhesion “Role of L1CAM gene in cell-cell adhesion.” Available at: https://www.cellcelladhesion.com/L1CAM-gene

These additional resources provide scientific articles and information on L1CAM gene and related disorders:

International L1 Syndrome Registry “Catalog of case reports and information on individuals with L1CAM gene changes.” Available at: https://www.l1registry.org/
GeneTests “Testing information and resources related to L1CAM gene and associated disorders.” Available at: https://www.genetests.org/
Online Mendelian Inheritance in Man (OMIM) “Comprehensive database of genes, genetic conditions, and related information.” Available at: https://www.omim.org/
PubMed “Database of scientific articles and publications.” Available at: https://pubmed.ncbi.nlm.nih.gov/

These resources can provide further information on L1CAM gene and its role in various conditions, as well as testing options and results. They also list other genes and proteins related to L1CAM gene and associated disorders.