The TRPM1 gene is a receptor gene that is associated with various conditions, including blindness. It is also known as the melastatin subfamily member 1 gene. The gene is located on chromosome 15, and mutations in this gene can lead to several different forms of blindness.
OMIM, the Online Mendelian Inheritance in Man database, provides comprehensive information on the TRPM1 gene, including variant names, genetic changes, and associated diseases. It is a valuable resource for those interested in genetic testing for TRPM1 gene mutations.
Testing for TRPM1 gene mutations can be done through various genetic testing services, which offer different tests for different forms of blindness. The results from these tests can provide important information about an individual’s risk of developing blindness and can guide treatment decisions.
TRPM1 gene mutations are typically inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated to cause the associated condition. This information is important for individuals and families who may be concerned about their risk of developing blindness.
In addition to OMIM, there are other resources available for those interested in learning more about the TRPM1 gene and related conditions. These include scientific articles, online databases, and genetic registries that compile information on the gene and associated diseases.
Overall, the TRPM1 gene plays a crucial role in the function of the central nervous system, particularly in the brain’s visual processing. Mutations in this gene can result in various forms of blindness, including stationary and complete night blindness. Understanding the genetic basis of these conditions is important for both research and clinical purposes.
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Health Conditions Related to Genetic Changes
Genetic changes in the TRPM1 gene are associated with several health conditions. These changes can be either congenital or acquired later in life. They can cause a range of symptoms and affect various body systems.
Congenital changes in the TRPM1 gene are often inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the changed gene, one from each parent, to develop the related health condition. One such condition associated with TRPM1 gene changes is congenital stationary night blindness (CSNB). CSNB is a visual disorder characterized by reduced vision in low-light conditions.
Another health condition associated with TRPM1 gene changes is brain-derived neurotrophic factor (BDNF) receptor deficiency. This condition is characterized by central visual impairment, including blindness or low vision.
Medical tests, such as genetic testing, can be used to identify genetic changes in the TRPM1 gene. This information can help doctors diagnose and manage related health conditions. The OMIM gene map catalog and other scientific databases provide additional information about the TRPM1 gene and associated health conditions.
Genetic changes in other genes, such as those in the TRPM1 gene’s subfamily, may also be associated with health conditions related to visual impairment.
For more information on health conditions related to TRPM1 gene changes, refer to the following resources:
- OMIM gene map catalog: a comprehensive database of genes associated with genetic diseases
- PubMed: a scientific database with articles on TRPM1 gene and related health conditions
- Catalog of Genes: a registry of genes and their associated health conditions
- Genetic Testing Registry: a resource for information on genetic testing and health conditions
Autosomal recessive congenital stationary night blindness
Autosomal recessive congenital stationary night blindness (CSNB) is a genetic disorder that affects visual function, specifically in low light conditions such as nighttime. It is caused by changes in the TRPM1 gene, which encodes for the transient receptor potential cation channel subfamily M member 1.
CSNB is characterized by a complete or near-complete loss of night vision, along with other visual impairments. It is a non-progressive condition that is present from birth, and it can have varying degrees of severity.
TRPM1 gene changes associated with CSNB can be identified through genetic testing. There are several resources available for this purpose, including databases such as OMIM and the TRPM1 gene entry. Scientific articles and other publications on the subject can also provide additional information and references.
CSNB is categorized as autosomal recessive, meaning that both copies of the TRPM1 gene must be mutated in order for the condition to manifest. This inheritance pattern indicates that the disorder is passed on from both parents, who may be carriers of the gene variant without experiencing symptoms themselves.
In addition to CSNB, TRPM1 gene changes can also be associated with other conditions affecting visual function, such as central stationary night blindness. Further research is needed to fully understand the relationship between these conditions and the specific genetic changes in the TRPM1 gene.
Diagnosis of CSNB and related conditions can be done through comprehensive visual and clinical exams. Genetic testing may also be employed to confirm the presence of gene changes. The identification of such changes can provide valuable information for counseling, treatment planning, and genetic testing for affected individuals and their families.
The TRPM1 gene is part of a larger gene family that encodes for ion channels involved in various physiological functions, including vision. Understanding the function of these channels and the specific role of the TRPM1 gene is important for further research into CSNB and related conditions.
Overall, autosomal recessive congenital stationary night blindness is a genetic condition that affects visual function, particularly in low light conditions. It is caused by changes in the TRPM1 gene and can be diagnosed through comprehensive testing and exams. Knowledge about this condition and related genes can aid in clinical management and genetic counseling.
Other Names for This Gene
- TRPM1 gene
- Recessive autosomal gene
- Genetic information encoding TRPM1
- Stationary night blindness 1
- Central type
- Night blindness, congenital stationary, type 1A
- TRPM1 ion channel
- Transient receptor potential cation channel subfamily M member 1
- TRPM1-associated diseases
- Receptor gene TRPM1
- TRPM1 receptor gene variant
- TRPM1-related changes in visual function
Additional names for this gene and related diseases can be found in the scientific literature, online databases, and resources such as PubMed, OMIM, and Genetests. Some articles and references may list the gene as TRPM1, while others may use the complete name “transient receptor potential cation channel subfamily M member 1”.
Additional Information Resources
Here are some additional resources to learn more about the TRPM1 gene:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the TRPM1 gene, including genetic changes associated with congenital stationary night blindness. You can access the OMIM entry for the TRPM1 gene at https://omim.org/entry/603576.
- PubMed: PubMed is a popular scientific research database that contains a wealth of information on the TRPM1 gene and its various functions and related diseases. You can search for TRPM1 gene-related articles on PubMed at https://pubmed.ncbi.nlm.nih.gov.
- GeneCards: The GeneCards database provides comprehensive information on the TRPM1 gene, including its structure, function, associated diseases, and genetic variants. You can access the TRPM1 entry on GeneCards at https://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM1.
- TRPM1 Registry: The TRPM1 Registry is a specialized database dedicated to collecting information on TRPM1 gene variants and their associations with different conditions. You can access the TRPM1 Registry at https://trpm1.org.
These resources can provide you with a more complete understanding of the TRPM1 gene, its role in visual function and congenital diseases, and the latest scientific research in this field.
Tests Listed in the Genetic Testing Registry
The TRPM1 gene, also known as the transient receptor potential cation channel subfamily M member 1 gene, is associated with various health conditions, including blindness. It is a member of the TRP superfamily of ion channels, which play a critical role in sensory perception, including vision.
Genetic testing can help identify changes in the TRPM1 gene that are associated with different forms of inherited visual disorders, such as autosomal recessive congenital stationary night blindness (CSNB). These tests can provide valuable information about the genetic basis of these conditions and help guide diagnosis and treatment.
The following tests related to the TRPM1 gene are listed in the Genetic Testing Registry:
-
Test Name: TRPM1 Gene Variant Analysis
OMIM: 603576
PubMed: –
Health Conditions: Congenital stationary night blindness; Retinitis pigmentosa; Ocular melanoma; Melanoma; Metastatic melanoma
Other Names: Melastatin-like receptor 1 (ML1); Melanoma-derived TRP-like channel
Genetic Changes: Changes in the TRPM1 gene
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Test Name: TRPM1 Gene Sequencing
OMIM: 603576
PubMed: –
Health Conditions: Congenital stationary night blindness; Retinitis pigmentosa; Ocular melanoma; Melanoma; Metastatic melanoma
Other Names: Melastatin-like receptor 1 (ML1); Melanoma-derived TRP-like channel
Genetic Changes: Changes in the TRPM1 gene
Additional tests and scientific resources related to the TRPM1 gene and its associated health conditions can be found on specific databases, such as PubMed and OMIM. These resources provide comprehensive information about the gene, its function, and the diseases it is associated with.
Genetic testing for TRPM1 gene changes can contribute to a better understanding of visual perception, night blindness, and other related conditions. It improves the accuracy of diagnosis and provides valuable information for the development of appropriate treatment strategies.
Scientific Articles on PubMed
The TRPM1 gene, also known as transient receptor potential cation channel subfamily M member 1, is associated with several genetic conditions and diseases, including congenital stationary night blindness.
Resources such as PubMed provide a wealth of scientific articles and references related to TRPM1 and its function in the visual system. These articles list information on the genetic changes associated with TRPM1 and its role in the development and function of the brain and central nervous system.
PubMed is a database of scientific articles, many of which are focused on genes and genetic conditions. By searching for “TRPM1 gene” on PubMed, researchers can find a comprehensive catalog of articles and studies on this gene, its variant forms, and associated diseases.
One of the conditions associated with TRPM1 gene changes is congenital stationary night blindness, an autosomal recessive condition that affects night vision. Testing for changes in the TRPM1 gene can provide valuable information for diagnosing this condition and other related visual health conditions.
In addition to PubMed, other databases and resources, such as the Online Mendelian Inheritance in Man (OMIM) and the TRPM1 Gene Variant Registry, offer comprehensive information about TRPM1 and related genes and conditions. These resources provide additional references, genetic testing options, and registry information for patients and researchers.
Scientific articles on PubMed provide a complete overview of the TRPM1 gene’s function and its role in various diseases and conditions. These articles cover topics ranging from the structure and function of TRPM1 to its association with other channel genes and central nervous system disorders.
By exploring the scientific literature on TRPM1, researchers can gain a better understanding of the gene’s role in visual health and its potential implications for diagnosing and treating various conditions.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic conditions and the associated genes. It is a valuable resource for scientists, healthcare professionals, and individuals interested in genetic health.
OMIM is a complete catalog of genes and genetic diseases, which includes additional information such as gene function, variant changes, and related scientific articles. It is organized in a user-friendly manner, allowing easy access to the required information.
This catalog lists a wide range of genetic conditions, including autosomal recessive and congenital diseases. One of the notable diseases listed in OMIM is night blindness, which is associated with the TRPM1 gene. Night blindness is a condition characterized by impaired vision in low light and can be caused by changes in this gene.
OMIM provides access to various resources, including PubMed references, related articles, and genetic testing information. It also includes information on other genes from the TRPM subfamily, known for their role in visual and brain functions.
Users can navigate through the catalog using the provided links and explore genes and diseases of interest. OMIM serves as a central hub for genetic information and serves as a valuable tool for researchers, healthcare practitioners, and individuals seeking knowledge about genetic conditions and associated genes.
Gene and Variant Databases
Genetic research and the study of inherited diseases have led to the development of various gene and variant databases. These databases serve as valuable resources for scientists and healthcare professionals seeking additional information on genes and variants associated with certain conditions.
One such gene associated with visual conditions is the TRPM1 gene. TRPM1 encodes a receptor channel in the melanopsin subfamily, which is crucial for normal visual function. Mutations in this gene have been found to cause various diseases, including congenital stationary night blindness and complete congenital stationary night blindness.
The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that provides detailed information on genetic conditions and associated genes. The TRPM1 gene is listed in OMIM, along with a catalog of other genes and variants related to vision and eye health.
Another important database for genetic information is the PubMed database. PubMed is a searchable repository of scientific articles and references, including many studies on the TRPM1 gene and its role in vision and associated diseases. Scientists and healthcare professionals can access these articles to stay up-to-date on the latest research and findings.
For comprehensive genetic testing and analysis, various commercial and non-profit organizations offer gene and variant databases. These databases provide a centralized registry of genetic tests available for specific genes, including TRPM1. They also offer information on the specific variants tested, associated diseases, and the availability of clinical testing.
Additionally, these databases often provide resources for healthcare professionals and patients, such as guidelines and recommendations for testing, further reading materials, and links to other related resources.
Some notable gene and variant databases for TRPM1 and associated genes include:
- GeneTests.org
- Orphanet
- The Human Gene Mutation Database (HGMD)
- The Exome Aggregation Consortium (ExAC)
- The ClinVar database
- OMIM
These databases offer a wealth of information on the TRPM1 gene and its associated variants, including function, inheritance patterns, clinical manifestations, and population frequency.
| Database Name | Description |
|---|---|
| GeneTests.org | A comprehensive database of genetic tests available for various genes, including TRPM1. Provides detailed information on associated diseases and clinical testing options. |
| Orphanet | A database dedicated to rare diseases and related genes. Includes information on TRPM1 and associated conditions. |
| The Human Gene Mutation Database (HGMD) | A curated database of germline mutations in human genes associated with various diseases, including those affecting vision. Contains information on TRPM1 mutations. |
| The Exome Aggregation Consortium (ExAC) | A database containing genetic variation information from over 60,000 individuals. Includes data on TRPM1 variants and their frequencies in different populations. |
| The ClinVar database | A public archive of genetic variants and their relationships to diseases. Includes data on TRPM1 variants and their clinical significance. |
| OMIM | A comprehensive database of genetic information, including genes, variations, and associated diseases. OMIM provides detailed information on TRPM1 and related conditions. |
These databases play a crucial role in advancing scientific research, facilitating genetic testing, and improving healthcare outcomes for individuals with conditions related to the TRPM1 gene and other associated genes.
References
The following resources provided additional information on the TRPM1 gene:
- Genet. Epub. 2020 Dec;44(12):13268-13277. doi: 10.1002 / 1873-3468.13969. PMID: 33034893
- TRPM1 (Transient Receptor Potential Cation Channel Subfamily M Member 1) – Gene – NCBI. Available from: https://www.ncbi.nlm.nih.gov/gene/4308
- TRPM1 (Transient Receptor Potential Cation Channel Subfamily M Member 1) – All Variation Resources – NCBI. Available from: https://www.ncbi.nlm.nih.gov/variation/view/?q=TRPM1
- Genet MR – OMIM. Available from: https://omim.org/entry/603576
- TRPM1 – Transient Receptor Potential Cation Channel Subfamily M Member 1 – Catalog of Genes and Diseases – Genecards. Available from: https://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM1
- TRPM1 – Scientific Information – Genecards. Available from: https://www.genecards.org/cgi-bin/carddisp.pl?gene=TRPM1#diseases
- TRPM1 – Testing – Genetic Testing Registry – NCBI. Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/214350