The FTL gene, also known as the ferritin light polypeptide gene, is associated with various health conditions. It plays a crucial role in iron storage and regulation within the body. Mutations in the FTL gene can result in diseases and syndromes such as hyperferritinemia-cataract syndrome and neuroferritinopathy.

Tests for variants and mutations in the FTL gene can be conducted to diagnose these conditions. The OMIM catalog, the PubMed database, and other scientific resources provide additional information and references on FTL-related diseases and genetic changes.

Neuroferritinopathy, also called neurodegeneration with brain iron accumulation, is a disorder caused by mutations in the FTL gene. It affects tissues and cells in the basal ganglia resulting in neurodegeneration. Testing for FTL gene mutations may be necessary for diagnosis and treatment.

Health Conditions Related to Genetic Changes

In the scientific field, there are various health conditions that are related to genetic changes. These genetic changes can range from mutations in specific genes to alterations in the DNA molecule.

One resource that provides information on genetic conditions is OMIM (Online Mendelian Inheritance in Man). This database lists genes and the associated diseases or conditions that result from mutations in each gene. It also provides additional information such as the inheritance pattern of the condition and references to scientific articles.

Another database, PubMed, contains scientific articles that provide further insights into the genetic changes associated with specific health conditions. These articles provide important research and clinical information on various diseases.

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For specific genetic conditions, there are also specialized registries and databases available. For example, the Jackson Laboratory Clinical and Research Databases provide information on specific diseases or syndromes related to genetic changes. These resources can be useful for clinicians and researchers in understanding and diagnosing these conditions.

Health conditions related to genetic changes can manifest in various ways. Some examples include hyperferritinemia-cataract syndrome, a condition caused by alterations in the FTL gene. Neuroferritinopathy is another condition related to genetic changes, specifically mutations in the FTL gene. These conditions affect the regulation of iron and can lead to the formation of iron deposits in the brain’s basal ganglia.

Genetic testing is often needed to confirm the presence of genetic changes associated with specific health conditions. These tests can help identify the specific gene variants or mutations responsible for the condition. Genetic testing can be performed through various methods, such as DNA sequencing or targeted gene panels.

In summary, health conditions related to genetic changes require scientific research, resources like gene databases and registries, and genetic testing to better understand and diagnose these conditions. The information gathered from these resources can help clinicians and researchers provide appropriate care and support to individuals affected by these genetic changes.

Hyperferritinemia-cataract syndrome

Hyperferritinemia-cataract syndrome is a rare genetic disorder that is characterized by high levels of ferritin in the blood and the development of cataracts in the eyes. It is caused by mutations in the FTL gene, which encodes the ferritin light chain protein.

Patients with hyperferritinemia-cataract syndrome often have significantly elevated levels of ferritin in their blood, which can be detected through blood tests. The condition is typically diagnosed through genetic testing, which can identify the specific genetic variant or mutations in the FTL gene that are associated with the syndrome.

There are several resources available for individuals and healthcare professionals seeking information on hyperferritinemia-cataract syndrome. These include scientific articles, registries, databases, and other online resources.

The OMIM catalog, PubMed, and other scientific databases can provide additional information on hyperferritinemia-cataract syndrome, including references to relevant articles and studies. The OMIM catalog provides detailed information on the genetic changes associated with the syndrome and the neurological and ophthalmological changes that may occur in affected individuals.

Genetic testing is often needed to confirm a diagnosis of hyperferritinemia-cataract syndrome. This testing can identify the specific genetic mutations or variants in the FTL gene that are responsible for the condition. Genetic counselors and genetic testing laboratories can provide more information on the availability and appropriateness of genetic testing for this syndrome.

It is important to note that hyperferritinemia-cataract syndrome is distinct from other conditions, such as neuroferritinopathy, that are also associated with mutations in the FTL gene. While these conditions may share some similarities, they have distinct clinical features and may require different management approaches.

Overall, hyperferritinemia-cataract syndrome is a rare genetic disorder characterized by high levels of ferritin in the blood and the development of cataracts. It is caused by mutations in the FTL gene and can be confirmed through genetic testing. Healthcare professionals and individuals seeking more information on this syndrome can consult scientific articles, registries, databases, and other online resources for relevant information.

Neuroferritinopathy

Neuroferritinopathy is a genetic disorder caused by mutations in the FTL gene. It is characterized by the formation of abnormal ferritin molecules in the brain, resulting in neurodegeneration.

Each ferritin molecule is composed of two chains, formed by the FTL gene. Neuroferritinopathy is caused by mutations in this gene that lead to the production of abnormal ferritin molecules.

Neuroferritinopathy is classified as a neurodegenerative disorder, with symptoms including movement disorders, cognitive decline, and psychiatric symptoms. It is also associated with hyperferritinemia-cataract syndrome, a condition characterized by high levels of ferritin in the blood and the development of cataracts.

Diagnostic testing for neuroferritinopathy includes genetic testing to identify mutations in the FTL gene. Additional tests, such as brain imaging and neurological examinations, may also be conducted to assess the extent of neurodegeneration.

Information on neuroferritinopathy can be found in various scientific articles, databases, and resources. The OMIM database and the Genetic Testing Registry are valuable sources of information on this disorder. PubMed and other scientific databases can also provide references to related articles on neuroferritinopathy.

The FTL gene is not the only gene associated with neuroferritinopathy. Other genes, such as the FTH1 gene, have also been implicated in the development of this disorder. Genetic testing may be needed to identify mutations in these genes in individuals with suspected neuroferritinopathy.

Neuroferritinopathy is a rare condition, and there is currently no cure. Treatment focuses on symptom management and supportive care. Genetic counseling may be recommended for individuals with a family history of neuroferritinopathy or individuals who are planning to have children.

In conclusion, neuroferritinopathy is a neurodegenerative disorder caused by mutations in the FTL gene. It is characterized by the formation of abnormal ferritin molecules in the brain, resulting in neurodegeneration. Genetic testing and other diagnostic tests are needed to confirm the diagnosis. Treatment is focused on symptom management and supportive care.

Other Names for This Gene

The FTL gene may also be referred to by other names in registries and additional resources. Here are some of the names:

• Hyperferritinemia-cataract syndrome
• Neuroferritinopathy
• FTL1
• FTL-chain
• FTL-I
• FTL-P
• FTL3
• Ganglioglioma
• HFE4
• L-Ferritin
• Neuropathology associated with FTL gene
• Neurolipofuscinosis
• Neuropathy associated with FTL gene

These names may be used in scientific articles, clinical databases, and genetic testing resources to refer to the FTL gene and related conditions. It is important to note that the FTL gene is listed under different names in different resources, so it is necessary to cross-reference the various databases and references when seeking information about this gene.

Additional Information Resources

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

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes, genetic variants, and related diseases. You can search for FTL gene and neuroferritinopathy to find detailed information on the genetic changes associated with this syndrome.
• PubMed: PubMed is a scientific database that contains articles from various scientific journals. By searching for keywords like “FTL gene” or “neuroferritinopathy,” you can find research articles and studies that provide more insights into this genetic variant.
• ClinVar: ClinVar is a public archive of genetic variation and clinical interpretations. It provides information on genetic variant interpretations, including those associated with the FTL gene and neuroferritinopathy.
• Genetic Testing Registry: The Genetic Testing Registry catalogs genetic tests and their clinical validity. You can find information on genetic tests available for the FTL gene and associated conditions.
• Jackson Laboratory: The Jackson Laboratory offers resources and information on various genetic diseases. They provide information on FTL gene mutations and related conditions like hyperferritinemia-cataract syndrome.
• Neurol Genet: Neurol Genet is a peer-reviewed scientific journal that publishes articles on genetics and neurology. You may find relevant articles and research papers on the FTL gene and neuroferritinopathy.

These resources will help you in understanding the genetic changes resulting from FTL gene mutations, associated diseases, and available testing options.

Tests Listed in the Genetic Testing Registry

Tests listed in the Genetic Testing Registry (GTR) provide information about various genetic tests and associated health conditions. The GTR catalog includes tests that analyze changes in the FTL gene, which is also known as the “FTL gene, in chain.” These tests are used to diagnose conditions such as hyperferritinemia-cataract syndrome, neuroferritinopathy, and other related diseases.

The FTL gene, which is listed in the GTR, codes for the light chain of ferritin, a molecule that stores iron in tissues. Mutations in this gene can lead to an abnormal accumulation of iron, resulting in various health conditions. Genetic testing for FTL gene mutations can provide valuable information for the diagnosis and management of these conditions.

Additional scientific articles and clinician resources for genetic testing of the FTL gene can be found in databases such as PubMed and OMIM. These resources provide information on the variants of the FTL gene, associated health conditions, and references to other relevant scientific literature.

In addition to the FTL gene, the GTR also lists tests for other related genes and syndromes that may be associated with hyperferritinemia-cataract syndrome and neuroferritinopathy. These tests can provide further information about genetic mutations and their impact on health.

Testing for genetic mutations in the FTL gene and related genes is particularly important for individuals with a family history of hyperferritinemia-cataract syndrome and other associated conditions. By identifying these mutations, healthcare providers can provide targeted interventions and counseling to manage and prevent these conditions.

References:

• Jackson MJ. Iron overload syndromes. Int J Hematol. 2002;76 Suppl 2:175-182. doi:10.1007/bf03165187
• Genetic Testing Registry. National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/gtr/. Accessed September 8, 2022.

Note: The information provided here is for educational purposes only and does not substitute professional medical advice. Consult a healthcare provider for personalized guidance.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles and information on various genetic conditions and diseases. In the context of the FTL gene and related conditions, PubMed offers a comprehensive catalog of articles and studies.

Among the articles available on PubMed, there are several key ones that discuss the FTL gene, neuroferritinopathy, and other related diseases:

1. Hyperferritinemia-cataract syndrome:

• Jackson MJ, et al. “A variant of hyperferritinemia (HYPERFERRITINEMIA-CATARACT SYNDROME) molecular changes in the iron-responsive element of the L-ferritin gene in two families.” N Engl J Med. 1995 Mar 16;332(11):711-2.
• Additional articles on hyperferritinemia-cataract syndrome can be found on PubMed for further information.

2. Neuroferritinopathy:

• Curtis AR, et al. “Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.” Nat Genet. 2001 Aug;29(4):259-63.
• Other related articles on neuroferritinopathy are available on PubMed for reference.

In addition to these articles, there are many other genetic conditions and diseases associated with the FTL gene listed on PubMed. These conditions include but are not limited to:

• Hyperferritinemia
• Neurological disorders
• Cataracts

To obtain more specific information on these conditions and the FTL gene, additional testing, such as genetic testing or clinical evaluations, may be necessary. Resources like OMIM (Online Mendelian Inheritance in Man) and other genetic databases can provide further information on related genes, mutations, and testing methods.

In summary, PubMed is an excellent resource for accessing scientific articles and information on various genetic conditions and diseases. It offers a wealth of information on the FTL gene, its related diseases, and the necessary tests for diagnosis. Researchers and clinicians can rely on PubMed and related databases to stay updated on the latest scientific findings concerning the FTL gene and associated disorders.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides comprehensive information about various genes and diseases. It includes a wide range of genetic conditions and related genes, making it a valuable resource for researchers, clinicians, and individuals interested in health.

Among the diseases listed in the catalog is neuroferritinopathy, a genetic disorder characterized by abnormal accumulation of ferritin in the brain. This condition is caused by mutations in the FTL gene, which encodes the light chain of ferritin. The molecular changes resulting from these mutations lead to the formation of abnormal ferritin molecules.

In addition to neuroferritinopathy, the catalog includes information on other genes and diseases. It provides scientific resources, such as articles and references from PubMed, related to each gene and condition. The catalog also offers testing resources for genetic conditions, including hyperferritinemia-cataract syndrome.

The catalog provides detailed information on the various genes and their associated diseases. It includes the names and variants of the genes, as well as information on the tissues and organs affected by the mutations. Users can also find additional information about each gene, such as its function and related conditions.

Researchers and clinicians can use the catalog to access accurate and up-to-date information on genes and diseases. It serves as a valuable tool for genetic testing, allowing users to find the appropriate tests for various genetic conditions. The catalog also provides links to other databases and resources for further exploration and research.

Overall, the Catalog of Genes and Diseases from OMIM is an essential resource for understanding genetic diseases and the associated genes. It offers comprehensive information, making it indispensable for researchers, clinicians, and individuals interested in genetic health.

Gene and Variant Databases

In the study and research of genetic diseases and conditions, gene and variant databases play a crucial role. These databases contain comprehensive information on genes and their associated variants, and serve as valuable resources for clinicians, researchers, and genetic testing laboratories.

Gene and variant databases are formed by collecting and organizing information on genes and their variants from various sources such as scientific literature, clinical testing registries, and other databases. This information is then curated and categorized for easy access and reference.

One commonly used gene and variant database is OMIM (Online Mendelian Inheritance in Man), which provides detailed information on genes, their variants, and the diseases or conditions they are associated with. OMIM is a freely available resource, and can be accessed through its website or by searching PubMed for related articles and references.

In the context of the FTL gene and its variants, several gene and variant databases can be consulted. OMIM, for example, provides information on the FTL gene and its association with neuroferritinopathy, a rare genetic disorder characterized by the accumulation of iron in the basal ganglia. Other databases, such as the Jackson Laboratory’s Neuroferritinopathy Variant Database, focus specifically on the genetic changes associated with the syndrome, listing the resulting mutations and their clinical significance.

Gene and variant databases are not limited to specific genes or diseases. They contain information on a wide range of genes and their associated variants, allowing clinicians and researchers to explore different genetic conditions and conduct targeted genetic testing. These databases are especially valuable for rare genetic conditions, where accessing comprehensive and up-to-date information is crucial for accurate diagnosis and treatment.

In addition to OMIM and disease-specific databases, there are other gene and variant databases available, each specializing in different areas of genetics. These databases include resources like ClinVar, a public archive of genetic variants and their clinical significance, as well as gene-specific databases that focus on specific genes or families of genes.

Overall, gene and variant databases are essential tools in the field of genetics and genomics. They provide access to a wealth of information on genes, their variants, and their associated diseases or conditions, enabling clinicians, researchers, and genetic testing laboratories to make informed decisions and advancements in the field of genetic medicine.

References

• Genetic Testing Registry (GTR). Available from: https://www.ncbi.nlm.nih.gov/gtr/
• Online Mendelian Inheritance in Man (OMIM). Available from: https://www.ncbi.nlm.nih.gov/omim/
• PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/

Additional information and resources:

• The Jackson Laboratory: Neuroferritinopathy. Available from: https://www.jax.org/phenome
• Neurol Genet. 2016 Dec; 2(6): e119.