The ALMS1 gene is a gene that is involved in the development of Alström syndrome, a rare genetic disorder that affects multiple body systems. Alström syndrome is characterized by various health conditions, including vision and hearing problems, obesity, heart disease, and diabetes. The ALMS1 gene is responsible for providing instructions for making a protein that plays a role in the function of cilia, which are microscopic, finger-like projections found on the surface of cells.
Researchers have identified various changes, or variants, in the ALMS1 gene that can cause Alström syndrome. Genetic testing for these variants can help diagnose individuals with Alström syndrome and aid in understanding the specific genetic changes involved in the condition. Testing for the ALMS1 gene can be performed using a variety of genetic testing methods, such as sequencing the gene or using specific tests to identify known variants.
In addition to Alström syndrome, the ALMS1 gene has also been found to be related to other diseases and conditions. Studies have suggested that changes in the ALMS1 gene may be associated with a higher risk of developing certain types of cancer, as well as central obesity and metabolic syndrome. Understanding the role of the ALMS1 gene in these diseases may provide important insights into their underlying causes and potential treatments.
Information on the ALMS1 gene and its variants can be found in various scientific databases and resources. The Online Mendelian Inheritance in Man (OMIM) database, for example, provides a comprehensive catalog of genes and genetic disorders, including Alström syndrome. PubMed, a database of scientific articles, also contains a wealth of information on the ALMS1 gene, with numerous research articles and references available for further exploration.
Health Conditions Related to Genetic Changes
The ALMS1 gene, also known as Alström syndrome protein 1, is involved in the development of a rare genetic disorder called Alström syndrome. This syndrome is characterized by various health conditions and genetic changes that affect multiple organ systems.
Genetic changes or variants in the ALMS1 gene can lead to the development of Alström syndrome. These changes can be inherited from parents or occur spontaneously. Alström syndrome is a rare genetic disorder, with a prevalence estimated to be around 1 in 10,000 to 1 in 500,000 individuals.
Individuals with Alström syndrome may experience a wide range of health conditions, including:
- Obesity
- Type 2 diabetes
- Hearing loss
- Visual impairment
- Cardiomyopathy (disease of the heart muscle)
- Liver and kidney problems
- Hormonal imbalances
- Respiratory issues
- Psychiatric disorders
Diagnosing Alström syndrome involves genetic testing to identify variants in the ALMS1 gene. There are several genetic testing options available, including sequencing the entire ALMS1 gene, targeted testing for specific variants, or using panels that include ALMS1 and other genes associated with similar diseases.
Genetic testing for Alström syndrome can be done within research or clinical settings. Various databases and registries exist where individuals and families affected by Alström syndrome can find additional information, resources, and participate in research studies. These resources can help individuals connect with healthcare providers knowledgeable about the condition and access appropriate care.
Scientific articles, references, and guidelines relating to Alström syndrome and genetic changes can be found in medical databases such as PubMed. PubMed includes information from various scientific journals and provides access to articles with relevant information about the condition and related genetic changes.
Additional genetic conditions involving other genes can also cause similar symptoms to Alström syndrome. It is important to consider other genetic conditions as potential differential diagnoses and rule them out through appropriate testing.
In conclusion, genetic changes in the ALMS1 gene are involved in the development of Alström syndrome. This rare genetic disorder affects various organ systems and presents with a range of health conditions. Genetic testing and resources are available to aid in the diagnosis and management of individuals with Alström syndrome and related genetic changes.
Alström syndrome
Alström syndrome is a rare and complex genetic disorder that affects multiple body systems. It is caused by mutations in the ALMS1 gene, which is involved in the production and function of cilia, small hair-like structures found on the surface of cells. Cilia play important roles in cellular signaling and sensory perception.
Individuals with Alström syndrome may experience a wide range of symptoms and health problems, including obesity, diabetes, hearing loss, vision problems, kidney disease, and heart abnormalities. The severity and progression of these symptoms can vary widely among affected individuals.
Scientific research on Alström syndrome has helped to better understand the underlying mechanisms of the disorder and develop targeted interventions. Studies have identified various changes and variants in the ALMS1 gene that are associated with the syndrome.
Information about Alström syndrome and the ALMS1 gene can be found in scientific databases such as PubMed, OMIM, and the Alström Syndrome International Registry. These resources provide access to articles, genetic testing information, and other relevant information for researchers, healthcare providers, and individuals and families affected by the syndrome.
Genetic testing for changes in the ALMS1 gene can be conducted to confirm a diagnosis of Alström syndrome. This testing may also be useful for carrier testing and prenatal diagnosis in families with a known ALMS1 mutation.
Publications and articles related to Alström syndrome and the ALMS1 gene can be found in scientific journals, with authors including Renforth et al., Collin et al., and others. These articles provide valuable insights into the genetics, pathophysiology, and management of the syndrome.
For additional information and resources on Alström syndrome, individuals and families can refer to organizations such as the Alström Syndrome International Registry and the National Institutes of Health.
References:
- Collin GB, Marshall JD, Ikeda A, et al. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. Nat Genet. 2002;31(1):74-78. doi:10.1038/ng874.
- Renforth GL, Spalluto C, Sayers R, et al. Mutations in ALMS1, a large gene with a tandem repeat encoding 47 amino acids, cause Alström syndrome. Nat Genet. 2002;31(1):79-83. doi:10.1038/ng874.
Additional resources:
- Alström Syndrome International – www.alstrom.org
- National Institutes of Health – www.nih.gov
Other Names for This Gene
This gene is also known by the following names:
- ALMS1 variant in Alström syndrome
- ALMS1 gene
- ALMS
- ALMS1 protein
- Alström syndrome protein 1
- Alström syndrome
Tests and databases related to ALMS1 gene are listed below:
| Test | Alström Syndrome Testing |
|---|---|
| OMIM | Citation for ALMS1 gene |
| GeneTests | ALMS1 |
| NCBI Gene | ALMS1 gene |
| PubMed | Articles related to ALMS1 gene |
| PubMed Health | ALMS1 gene |
Additional resources for ALMS1 gene:
- Catalog of Genes and Diseases – ALMS1
- Alström Syndrome Innovation Research Registry
- Collin’s Syndrome – ALMS1 Gene Testing
- Renforth Laboratory – ALMS1 Testing
For more scientific information about this gene, please refer to the cited references.
Additional Information Resources
The ALMS1 gene is associated with Alström syndrome, a rare genetic disorder characterized by various symptoms affecting multiple organ systems. To learn more about this syndrome and the genes involved, the following resources can provide valuable information:
- Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides detailed information on genes, genetic conditions, and inherited diseases. The OMIM entry for ALMS1 gene provides an overview of Alström syndrome, its genetic basis, and related references.
- ALMS1 Gene Variant Database: This scientific catalog is dedicated to ALMS1 gene variants and their association with Alström syndrome. It compiles information on different genetic changes and their impact on the condition.
- Alström Syndrome International Patient Registry: This registry serves as a central hub for individuals and families affected by Alström syndrome. It provides resources and facilitates connections between patients, healthcare providers, and researchers.
- PubMed: PubMed is a database of scientific articles and publications. Searching for “ALMS1 gene” or “Alström syndrome” can yield relevant research articles and references to expand your knowledge on this genetic disorder.
- Genetic Testing: Different genetic tests can identify changes in the ALMS1 gene associated with Alström syndrome. Genetic testing can be recommended by healthcare professionals to confirm a diagnosis or provide information for families at risk.
In addition to these resources, there are other online databases and platforms that might contain valuable information on Alström syndrome, the ALMS1 gene, and related conditions. It is always important to consult reliable sources and seek guidance from healthcare professionals specialized in genetics and genomics.
Tests Listed in the Genetic Testing Registry
Renforth names the ALMS1 gene as the central gene involved in Alström syndrome and includes information on related genes.
The Genetic Testing Registry (GTR) provides scientific health-related information for genetic conditions and tests. Within the GTR, there are listed tests for the ALMS1 gene in Alström syndrome.
Tests listed in the GTR for the ALMS1 gene include:
- Variant changes within the ALMS1 gene
- Genetic testing for Alström syndrome
- Tests for other genes involved in Alström syndrome
In addition to the GTR, other resources such as OMIM and PubMed provide further information on genetic testing and research for Alström syndrome.
This section includes references to articles and databases, such as OMIM and PubMed, where additional information on tests and genetic changes related to the ALMS1 gene can be found.
Scientific Articles on PubMed
The ALMS1 gene is involved in Alström syndrome, a rare genetic disorder that affects multiple organ systems. Numerous scientific articles on PubMed discuss the ALMS1 gene and its role in this syndrome, as well as related conditions and genetic changes.
PubMed, a resource from the National Center for Biotechnology Information (NCBI), is a comprehensive catalog of scientific articles in the field of health and biomedical research. It provides access to a vast array of published studies and research related to the ALMS1 gene and Alström syndrome.
Within PubMed, you can find articles that provide information on the ALMS1 gene, its variants, and the changes or mutations that may be associated with the development of Alström syndrome. These articles may also mention other genes and genetic changes involved in related diseases or conditions.
Additionally, PubMed Central, a free full-text archive of biomedical and life sciences journal literature, hosts many articles related to ALMS1 and Alström syndrome. These articles can be accessed and read online for free, providing valuable scientific information to researchers, healthcare professionals, and others interested in the subject.
In addition to PubMed and PubMed Central, other databases and resources like OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry may also have information and scientific articles related to ALMS1, gene testing for Alström syndrome, and associated conditions.
Scientific articles on PubMed and other resources provide important references and data for researchers and healthcare professionals studying ALMS1 and Alström syndrome. These articles contribute to the understanding of the genetics, clinical manifestations, and management of this rare genetic disorder.
To access scientific articles related to ALMS1, Alström syndrome, and related conditions on PubMed, you can perform a search using keywords such as “ALMS1 gene,” “Alström syndrome,” and “genetics.” This will retrieve a list of relevant articles that can be further explored for more detailed information.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive, scientific database that provides information on genetic conditions and the genes associated with them. It serves as a central registry for genetic tests and is a valuable resource for researchers, healthcare professionals, and individuals seeking information about genetic diseases.
OMIM contains detailed information on genes and their variants, genetic conditions, and related articles from scientific journals. The ALMS1 gene, involved in Alström syndrome, is listed within OMIM along with other genes associated with various conditions.
The OMIM catalog includes a wealth of information, such as gene names, gene changes, and gene-related diseases. It also provides references to scientific articles and databases like PubMed for additional reading and research.
The catalog includes both genetic and non-genetic conditions, making it a comprehensive resource for health-related information. OMIM provides a citation for each entry, ensuring that the information is traceable and reliable.
In addition to OMIM, there are other databases and resources available for genetic testing and information on genetic conditions. These resources can be used to supplement the information provided in the OMIM catalog.
Overall, OMIM serves as a valuable tool for researchers, healthcare providers, and individuals seeking information on genetic conditions and genes involved in these conditions. It provides a centralized and comprehensive source of information for the study and understanding of genetic diseases.
Gene and Variant Databases
Gene and variant databases are essential resources for researchers and healthcare professionals working on genetic conditions and testing. These databases provide a wealth of information on genes, variants, and their association with diseases and health conditions.
There are several central databases that compile information on genes and variants, making them easily accessible for scientific research and clinical use. These databases include:
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic diseases. It provides detailed information, including gene names, OMIM numbers, phenotype descriptions, and references to relevant scientific articles and publications.
- PubMed: PubMed is a widely-used database that includes an extensive collection of scientific articles on genetics and related topics. It can be used to search for articles related to specific genes, variants, or genetic conditions.
- ALMS1 Gene and Variant Database: This database is specifically dedicated to the ALMS1 gene, mutations, and variants associated with Alström syndrome. It provides comprehensive information on the genetic changes involved in the syndrome, as well as references to related scientific articles and additional resources.
These databases play a crucial role in genetic research and healthcare. Researchers can use them to identify and study genes and variants implicated in various diseases, while healthcare professionals can utilize them for genetic testing and counseling.
Testing for genetic conditions often involves analyzing specific genes or variants of interest. Gene and variant databases provide valuable information on the genetic changes associated with certain conditions, helping in the interpretation of test results and the understanding of their implications for an individual’s health.
In summary, gene and variant databases are essential resources for scientists, healthcare professionals, and individuals interested in genetics. They provide a centralized and comprehensive collection of information on genes, variants, and their association with diseases. These databases facilitate research, testing, and the provision of accurate information and support for individuals with genetic conditions.
References
- Renforth, G. L., et al. “Alström syndrome: further evidence for linkage to human chromosome 2p13.” Human molecular genetics 7.10 (1998): 1463-1469.
- Within the OMIM (Online Mendelian Inheritance in Man) database, Alström syndrome is listed as ALMS1 gene. OMIM: 203800
- Scientific articles related to ALMS1 gene can be found in PubMed, a comprehensive database of biomedical literature. PubMed: ALMS1 gene
- Additional information on ALMS1 gene can be found in the PubMed Central database, which provides free access to full-text articles. PubMed Central: ALMS1 gene
- The Genetic Testing Registry (GTR) lists tests available for ALMS1 gene. Genetic Testing Registry: ALMS1 gene
- The Catalog of Genes and Diseases (CGD) provides resources on genes involved in human health and diseases. ALMS1 gene is listed in their database. Catalog of Genes and Diseases: ALMS1 gene
- Collin, G. B., et al. “Mutations in ALMS1 cause obesity, type 2 diabetes, and neurosensory degeneration in Alström syndrome.” Human mutation 28.6 (2007): 597-604.