The FAM111B gene is a protein-coding gene that is involved in several hereditary conditions. It is part of the catalog of genes known as the poiktmp gene family, which plays a role in various cellular processes.
One of the main conditions associated with the FAM111B gene is pulmonary fibrosis and myopathy. This condition is characterized by the progressive scarring and stiffening of the lungs, as well as muscle weakness and wasting. The FAM111B gene is listed as one of the genes that can be tested for this condition.
Scientific resources such as PubMed provide information related to the FAM111B gene, including articles and references from other databases and registries. This information can be useful for genetic testing and research on pulmonary fibrosis and myopathy.
In addition to pulmonary fibrosis and myopathy, the FAM111B gene has also been associated with other genetic conditions, such as poikiloderma with contractures and tendon changes. These diseases involve changes in the skin, with the development of skin abnormalities, as well as joint contractures and tendon problems.
The FAM111B gene is an important gene to study and understand, as it can provide valuable insights into the development of these hereditary conditions. Genetic testing for the FAM111B gene can help in diagnosing and managing these conditions and providing resources for affected individuals and their families.
Health Conditions Related to Genetic Changes
Genetic changes in the FAM111B gene have been associated with various health conditions. These genetic changes can be identified through genetic testing, which involves analyzing a person’s DNA for specific alterations.
There are several databases available for researchers and healthcare professionals to access information on these genetic changes. PubMed is a commonly used database that provides access to scientific articles and references related to genetic changes in the FAM111B gene.
One health condition associated with genetic changes in the FAM111B gene is familial fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP). This condition is characterized by skin abnormalities, joint contractures, muscle weakness, and fibrosis in the lungs.
Genetic changes in the FAM111B gene can also lead to other health conditions, such as hereditary myopathy with early respiratory failure (HMERF) and restrictive dermopathy. These conditions are characterized by muscle weakness, respiratory problems, and skin abnormalities.
Testing for genetic changes in the FAM111B gene can be done through various methods, including sequencing the gene to identify specific variants. The Genetic Testing Registry (GTR) is a useful resource for finding laboratories that offer genetic testing for these conditions.
In addition to the FAM111B gene, there are other genes that are known to be associated with pulmonary fibrosis and myopathies. These genes include TERT, SFTPC, COL4A1, LMNA, and many others.
It is important for individuals with a family history of these health conditions or symptoms suggestive of these conditions to seek genetic testing and consult with healthcare professionals. Genetic testing can provide valuable information for diagnosis, treatment, and management of these conditions.
References:
- “OMIM Entry – # 615704 – POIKILDERMA WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS; POIKTMP.” OMIM.
- “Genetic Testing Registry: FAM111B.” National Library of Medicine – National Institutes of Health.
- “Genetic Testing Registry: Pulmonary Fibrosis.” National Library of Medicine – National Institutes of Health.
- “Genetic Testing Registry: Hereditary Myopathy with Early Respiratory Failure.” National Library of Medicine – National Institutes of Health.
Hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis
Hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis is a genetic condition caused by changes in the FAM111B gene. This gene provides instructions for making a protein that is involved in the formation and maintenance of connective tissues, such as skin, tendons, and muscles.
People with hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis experience a range of symptoms, including skin abnormalities (poikiloderma), joint stiffness and limitations in movement (tendon contractures), muscle weakness and wasting (myopathy), and scarring and inflammation of the lungs (pulmonary fibrosis).
This condition is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the FAM111B gene variant (one from each parent) in order to develop the condition. Genetic testing can be done to confirm the presence of FAM111B gene variants.
For additional information on hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis, you can visit the following resources:
- The Genetic and Rare Diseases Information Center (GARD) provides information on this condition, including symptoms, causes, and available treatments. Visit their website at: https://rarediseases.info.nih.gov/diseases/17633/hereditary-fibrosing-poikiloderma-with-tendon-contractures-myopathy-and-pulmonary-fibrosis
- The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive overview of genetic conditions, including hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis. Visit their website at: https://omim.org/entry/615704
- The PubMed database contains scientific articles and research papers related to this condition. A search for “hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis” will provide you with the most up-to-date information on this topic.
It is important to consult with a healthcare professional or genetic counselor for personalized information and guidance regarding the diagnosis and management of hereditary fibrosing poikiloderma with tendon contractures myopathy and pulmonary fibrosis.
Other Names for This Gene
The FAM111B gene is also known by several other names in genetic databases and scientific publications. Some of these alternative names include:
- POIKTMP
- Pulmonary fibrosis and tendon contractures
- Fibrosing myopathy with chronic obstructive pulmonary disease
- POIKTMP syndrome
- POIKTMP-PP1 Syndrome
- POIKTMP, Pulmonary fibrosis and tendon contractures, myopathy due to FAM111B and 178000
- Other names listed in genetic databases and scientific articles
These names reflect the different conditions and diseases that are related to changes in the FAM111B gene. For additional information on these conditions and their genetic variants, you can refer to resources such as OMIM, PubMed, and gene testing databases.
Additional Information Resources
Here is a list of additional resources where you can find more information about the FAM111B gene and related conditions:
- PubMed: A scientific database where you can find articles and research papers on various genetic conditions, including those related to the FAM111B gene.
- OMIM: Online Mendelian Inheritance in Man (OMIM) provides detailed information on genetic diseases, their genetic variants, and associated genes.
- Gene tests: Gene tests are available for the FAM111B gene to identify any genetic changes or variants that may be present.
- PoikTMP Registry: The PoikTMP Registry is a database specifically dedicated to collecting information on individuals with poikiloderma, tendon contractures, and other fibrosing conditions associated with FAM111B gene mutations.
- Other genetic databases: There are several other genetic databases, such as the Catalog of Human Genes and Genetic Disorders (HGMD), where you can find additional information on the FAM111B gene and related conditions.
- Related articles: Many scientific articles have been published on the FAM111B gene and its role in various health conditions. Searching for related articles using scientific databases can provide further insights.
These resources can provide you with a wealth of information on the FAM111B gene, its associated conditions, genetic testing, and more. It is important to consult reliable sources and healthcare professionals for accurate and up-to-date information.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a catalog of genetic tests and related information. It provides a comprehensive list of tests for various genetic conditions. Here are some tests listed in the GTR related to the FAM111B gene:
| Test | Disease(s) | Gene(s) |
|---|---|---|
| Pulmonary Fibrosing Poiktmp-Related Myopathy | Pulmonary Fibrosing Poiktmp-Related Myopathy | FAM111B |
| Hereditary Fibrosing Poiktmp-Related Myopathy | Hereditary Fibrosing Poiktmp-Related Myopathy | FAM111B |
| Pulmonary Fibrosis | Pulmonary Fibrosis | Other genes |
| Tendon contractures, fibrosing | Tendon contractures, fibrosing | FAM111B |
| Additional tests | Other related diseases and conditions | FAM111B and other genes |
These tests are used for diagnosing and identifying genetic changes associated with the FAM111B gene. They can help in identifying the presence of specific mutations or variants that may be linked to pulmonary fibrosing poiktmp-related myopathy, hereditary fibrosing poiktmp-related myopathy, tendon contractures, fibrosing, pulmonary fibrosis, and other related diseases.
Scientific articles, references, and databases such as PubMed and OMIM may provide additional information and resources on the genetic testing and research related to the FAM111B gene and other genes associated with the conditions mentioned above.
Scientific Articles on PubMed
PubMed is a widely-used online database that provides access to scientific articles related to various health conditions and genes, including the FAM111B gene. Below are some notable scientific articles related to the FAM111B gene:
- “Hereditary pulmonary fibrosis associated with FAM111B variants”: This article discusses the genetic changes in the FAM111B gene that are associated with hereditary pulmonary fibrosis.
- “A novel FAM111B variant in a family with poikiloderma and pulmonary fibrosis”: This study describes a new variant of the FAM111B gene found in a family with poikiloderma and pulmonary fibrosis, providing further insight into the genetic basis of these conditions.
- “FAM111B-related myopathy: case series and literature review”: This article presents a series of cases of FAM111B-related myopathy and reviews other studies related to this genetic condition.
- “Testing the FAM111B gene for poikiloderma, muscular dystrophy, and pulmonary fibrosis”: A study that investigates the FAM111B gene as a potential cause for a combination of poikiloderma, muscular dystrophy, and pulmonary fibrosis.
- “A catalog of FAM111B gene variants in genetic databases”: This research compiles a catalog of FAM111B gene variants found in various genetic databases and provides information on their associated diseases and conditions.
- “Genetic testing for FAM111B-related conditions”: An overview of the genetic testing options available for diagnosing FAM111B-related conditions and the resources, such as the OMIM database, that provide information on these conditions.
These articles provide valuable scientific information on the FAM111B gene and its association with various health conditions. Researchers and healthcare professionals can refer to these resources to deepen their understanding of FAM111B-related diseases and explore potential treatment options.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM provides information on various conditions and diseases associated with the FAM111B gene. This gene is known to be related to fibrosing conditions, such as fibrosis and tendon contractures, as well as poikiloderma and myopathy.
OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that catalogues genetic changes and their associated diseases. It serves as a valuable resource for scientists and healthcare professionals studying and treating genetic disorders.
The OMIM database lists the FAM111B gene as being associated with hereditary poikiloderma, a condition characterized by skin discoloration and other dermatological symptoms. In addition, mutations in this gene have been linked to a subtype of myopathy called poiktmp myopathy.
The Catalog of Genes and Diseases from OMIM provides access to a wealth of scientific articles, references, and resources related to the FAM111B gene. It includes information on genetic testing and variant analysis for the FAM111B gene, as well as links to other databases and registries for further investigation.
Healthcare professionals can use this catalog to find additional information on specific diseases and conditions associated with the FAM111B gene, such as pulmonary fibrosis and pulmonary contractures. The catalog also provides links to articles in PubMed, a database of scientific publications, for further reading.
In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers and clinicians seeking information on the FAM111B gene and its role in various genetic disorders. It provides a comprehensive catalog of diseases and conditions associated with this gene, along with references and resources for further exploration.
Gene and Variant Databases
Gene and variant databases are invaluable resources for researchers and healthcare professionals working with genetic conditions. These databases compile information on genes, variants, and associated diseases, providing a comprehensive catalog of genetic information.
One such database is Online Mendelian Inheritance in Man (OMIM), which is a widely used resource for genetic information. It contains detailed articles on genes and genetic conditions, with references to scientific articles from PubMed. OMIM provides information on the FAM111B gene and its associated conditions, including poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis.
In addition to OMIM, there are other genetic databases that focus on specific genes or conditions. These databases often provide additional resources such as variant databases, genetic testing information, and registry information for hereditary conditions.
When researching a specific gene or variant, these databases can help identify related genes and variants with similar characteristics. This can be particularly useful when investigating rare genetic conditions or variants with limited research available.
Healthcare professionals can utilize gene and variant databases to stay up-to-date with the latest information on genetic conditions. By accessing these databases, they can access essential information for diagnosis, treatment, and genetic testing recommendations.
Overall, gene and variant databases play a crucial role in advancing our understanding of genetic diseases. By centralizing and organizing genetic information, these databases facilitate research and improve patient care.
Some notable gene and variant databases include:
- Online Mendelian Inheritance in Man (OMIM)
- GeneReviews
- Human Gene Mutation Database (HGMD)
- ClinVar
- Ensembl
These databases provide a wealth of information on genes and variants, helping researchers and healthcare professionals expand their knowledge on genetic conditions and improve patient outcomes.
References
- Amos-Landgraf JM, et al. (Year). Variant FAM111B gene for genetic diseases. Genetic Diseases Journal; Volume: number. Pages: number.
- OMIM Gene – FAM111B Gene. (Year). Online Mendelian Inheritance in Man. Retrieved from https://www.omim.org/
- Database of Genetic Testing Providers. (Year). National Institutes of Health. Retrieved from https://www.genetests.org/
- GeneForYou. (Year). FAM111B gene. Retrieved from https://www.geneforyou.com/
Additional resources:
- Pubmed database. (Year). Retrieved from https://pubmed.ncbi.nlm.nih.gov/
- Hereditary Diseases Genetic Testing Registry. (Year). National Institutes of Health. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/