The LHX1 gene, listed on MIM catalog as a 17q12 genetic variant, provides important information for scientific research and genetic testing. It is a transcription factor involved in the development of various genes and conditions, including the Mayer-Rokitansky-Kuster-Hauser syndrome. This gene has been extensively studied and documented in scientific articles, with references available on databases such as PubMed.
The LHX1 gene is known to play a crucial role in the development of the urogenital system and has been linked to a number of related genetic diseases. It has been observed that rearrangements and deletions in this gene can lead to abnormalities in the development of the reproductive system, resulting in conditions such as Mayer-Rokitansky-Kuster-Hauser syndrome.
Genetic testing for LHX1 gene variants is available in many laboratories and clinics, providing an opportunity to diagnose and better understand various genetic conditions. The OMIM and GeneTests databases provide additional information on this gene, including its functions, associated conditions, and available diagnostic tests. Furthermore, the Genetic Testing Registry presents a comprehensive catalog of genetic tests and related information.
Scientific articles and resources on the LHX1 gene can be found in various academic journals, with the gene being frequently cited in the field of genetics and developmental biology. Researchers and clinicians rely on this information to study the role of the LHX1 gene in various conditions and to develop potential treatment strategies. Overall, the LHX1 gene is an essential component in understanding the genetic basis of urogenital development and related disorders.
Health Conditions Related to Genetic Changes
The LHX1 gene provides instructions for making a protein that is involved in the development and function of several body systems. Rearrangements of the LHX1 gene have been found in individuals with certain health conditions.
OMIM is a catalog of human genes and genetic disorders. The OMIM database provides information on the relationship between genes and diseases. The LHX1 gene is listed in the OMIM database with the disease-related information and references to scientific articles.
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The Mayer-Rokitansky-Küster-Hauser syndrome is a health condition related to changes in the LHX1 gene. It is a genetic disorder characterized by the incomplete development of the female reproductive system.
In addition to the LHX1 gene, other genes on chromosome 17q12 have also been found to be related to various health conditions. These genetic changes include deletions, rearrangements, and other variant changes.
Genetic testing is available for the LHX1 gene and other related genes. These tests can help in the diagnosis and management of health conditions associated with genetic changes.
The scientific articles listed in the OMIM database and PubMed provide additional information on the role of the LHX1 gene and other genes related to health conditions.
Genetic databases and resources are valuable tools for researchers and healthcare professionals to access information on genes, genetic changes, and related health conditions.
References:
- OMIM database (Online Mendelian Inheritance in Man): www.omim.org
- PubMed database: pubmed.ncbi.nlm.nih.gov
- Genet. development.
17q12 deletion syndrome
The 17q12 deletion syndrome is a genetic condition that results from the deletion of a small piece of DNA on the long arm of chromosome 17. This syndrome is also known as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2. It is associated with a range of developmental changes and can affect various organ systems in the body.
Research on the 17q12 deletion syndrome has been conducted and published in scientific articles. Many of these articles can be found on PubMed, a database that provides access to a large collection of scientific articles on genetics and related topics. Tests and genetic analyses have been carried out to study the effects of this deletion on gene expression and transcription, as well as its impact on health and development.
The LHX1 gene, located within the 17q12 region, has been found to be associated with the development of the urogenital system. Lim-1, a transcription factor encoded by the LHX1 gene, plays a critical role in the development of various organs, including the kidneys, reproductive organs, and limbs. Changes in this gene can lead to abnormalities in these structures, resulting in the characteristic features of the 17q12 deletion syndrome.
The 17q12 deletion syndrome is one of several genetic conditions associated with rearrangements in the 17q12 region. Other related conditions include renal cysts and diabetes syndrome (RCAD) and maturity-onset diabetes of the young type 5 (MODY5). These conditions are caused by different types of genetic changes in the same chromosomal region.
Information on the 17q12 deletion syndrome can be found in various resources, including the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information on genetic diseases and related genes, including the 17q12 deletion syndrome. The International Standards for Cytogenomic Arrays (ISCA) consortium has also established a registry for individuals with 17q12 rearrangements, which provides additional information and resources for affected individuals and their families.
References to scientific articles and other sources related to the 17q12 deletion syndrome can be found in the scientific literature and databases. These references provide valuable information for researchers and healthcare professionals studying and caring for individuals with this syndrome. The 17q12 deletion syndrome is an area of ongoing research and exploration, and further studies are needed to fully understand its genetic basis and clinical implications.
Mayer-Rokitansky-Küster-Hauser syndrome
Mayer-Rokitansky-Küster-Hauser syndrome is a genetic disorder that affects the development of the female reproductive system. It is also known by other names, such as MRKH syndrome or Müllerian aplasia. This rare condition occurs in approximately 1 in 4,000 to 1 in 5,000 females.
In individuals with Mayer-Rokitansky-Küster-Hauser syndrome, the vagina and uterus do not develop properly before birth. This leads to the absence or underdevelopment of these reproductive organs. While affected individuals typically have normal external genitalia, they may not start menstruating at puberty.
This syndrome is associated with rearrangements on chromosome 17q12. These genetic changes can involve various genes, including the LIM-1 gene. The LHX1 gene, also known as LIM-1, plays a critical role in the development of the uterus and other Müllerian duct derivatives.
There are additional conditions that can be associated with Mayer-Rokitansky-Küster-Hauser syndrome. It is important to note that not everyone with this syndrome will have these additional conditions. They may include kidney abnormalities, skeletal abnormalities, hearing loss, or heart defects.
Genetic testing is available to help confirm a diagnosis of Mayer-Rokitansky-Küster-Hauser syndrome. This testing may involve the identification of specific genetic variants or the detection of deletions or rearrangements in the 17q12 region. It is important to consult with healthcare professionals for further information on genetic testing and related genetic counseling.
The OMIM entry for Mayer-Rokitansky-Küster-Hauser syndrome provides comprehensive information, including references to scientific articles and databases. This registry of genetic diseases can be a valuable resource for healthcare professionals and individuals seeking additional information.
References:
- OMIM. “Mayer-Rokitansky-Küster-Hauser syndrome.” Available from: https://www.omim.org/entry/277000.
- Genetics Home Reference. “Mayer-Rokitansky-Küster-Hauser syndrome.” Available from: https://ghr.nlm.nih.gov/condition/mayer-rokitansky-kuster-hauser-syndrome.
- PubMed. “Mayer-Rokitansky-Küster-Hauser syndrome.” Available from: https://pubmed.ncbi.nlm.nih.gov/?term=Mayer-Rokitansky-Küster-Hauser+syndrome.
Other Names for This Gene
The LHX1 gene is also known by other names:
- Lim-1 Oncogene
- Lim Homeobox 1
- Lim Domain Homeobox Protein 1
These alternative names for the LHX1 gene are used in scientific literature, resources, and databases such as OMIM (Online Mendelian Inheritance in Man), a catalog of genes and genetic conditions, and PubMed, a database of articles and references on health and medical topics.
Additionally, there are other genetic conditions and diseases in which LHX1 gene changes or rearrangements have been reported. This includes the 17q12 deletion syndrome, Mayer-Rokitansky-Küster-Hauser syndrome, and other related conditions. Testing of the LHX1 gene and related genes can provide information on these conditions, and the LHX1 gene variant may be listed in genetic testing databases and registries.
Additional Information Resources
For additional information on the LHX1 gene, the following resources may be helpful:
- Databases and scientific catalog:
- OMIM (Online Mendelian Inheritance in Man) – provides information on genes, genetic testing, and related diseases and conditions.
- The Human Gene Mutation Database (HGMD) – contains information on genetic variants and their association with diseases.
- Genetic Testing Registry – provides a central location for test names, methods, and resources, as well as information on genetic conditions.
- Articles and references:
- The Lim-1 gene and its role in development and transcription.
- Genetic changes associated with Mayer-Rokitansky-Küster-Hauser syndrome and other related conditions.
- The 17q12 deletion variant and its association with different health conditions.
- Other resources:
- The Genet Test Mol Biomarkers journal – provides information on genetic testing and biomarkers.
- The National Center for Biotechnology Information (NCBI) – offers a variety of resources for genetic research, including databases and tools for genome analysis.
- The Transcription Factor Encyclopedia (TFe) – lists transcription factors and their targets in human and other model organisms.
These resources can provide valuable information on the LHX1 gene, its role in development and transcription, and related genetic changes and conditions. Consult the appropriate citation and reference for more in-depth information.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry provides a catalog of genetic tests for various diseases and conditions. This registry lists tests related to the LHX1 gene and other genes related to genetic changes and conditions. It is a valuable resource for researchers and healthcare providers.
Tests listed in the registry include information on the gene names, references to scientific literature, and databases that provide additional resources and information on genetic changes. The registry also includes testing for specific conditions such as the Mayer-Rokitansky-Küster-Hauser syndrome and 17q12 rearrangements, as well as limb development and transcription factors.
Information provided in the registry is sourced from OMIM, PubMed, and other scientific databases. Each test listed includes the name of the gene and disease, along with a citation to the scientific literature that supports its inclusion in the registry.
Healthcare providers and researchers can use the Genetic Testing Registry to access information on the various tests available for genes like LHX1. This resource provides a comprehensive catalog of genetic tests, making it easier to find relevant tests for specific diseases and conditions.
Scientific Articles on PubMed
The LHX1 gene, also known as LIM-1, is listed in various genetic databases and resources such as OMIM. It is associated with a number of diseases and conditions, including Mayer-Rokitansky-Küster-Hauser syndrome and other related syndromes.
This gene plays a crucial role in the development of the urinary and reproductive system. Changes or rearrangements in the LHX1 gene, such as deletions or variants, can have significant effects on the health and functioning of these systems.
Genetic testing for 17q12 rearrangements and other genetic changes in the LHX1 gene is available. This testing can help diagnose individuals with these conditions and provide important information for their medical management.
PubMed is a database of scientific articles and provides a comprehensive catalog of references related to the LHX1 gene. Researchers and healthcare professionals can access a wealth of information on this gene and its role in various diseases and conditions.
Scientific articles on PubMed cover a wide range of topics, including the transcription of LHX1 and its interactions with other genes. These articles can provide additional insights and research findings on the LHX1 gene.
Using PubMed, researchers can search for articles on specific topics or diseases related to LHX1. They can also access citation information and full-text articles for further reading and reference.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) catalog provides a comprehensive collection of information on genetic changes and associated diseases. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in understanding genetic conditions.
The catalog contains a vast array of genetic disorders, syndromes, and conditions. One such syndrome listed in the catalog is the 17q12 syndrome, which is caused by rearrangements in the LHX1 gene. This syndrome is also known by other names, including mayer-rokitansky-küster-hauser syndrome.
OMIM provides a citation for each entry, referencing the scientific articles, publications, or databases from which the information is derived. The catalog also includes information on genetic testing resources, such as laboratories that offer testing for specific genes or conditions.
The OMIM catalog includes detailed information on the genetics, clinical features, and inheritance patterns of various diseases and disorders. It provides additional references to other genetic resources and databases that may contain further information on a particular genetic variant or condition.
For example, OMIM may include references to articles in PubMed, which is a widely used database of scientific literature. These references can be used to access additional information on the disease or gene of interest.
The catalog is organized in a systematic and user-friendly manner, with genes listed alphabetically and diseases listed under each gene. It also includes a search function, allowing users to quickly find specific genes or diseases of interest.
| Gene | Disease |
|---|---|
| LHX1 | 17q12 syndrome |
| LMN1 | Limb-girdle muscular dystrophy type 1 |
| … | … |
Overall, the OMIM catalog serves as a comprehensive and reliable resource for information on genetic disorders and diseases. It not only provides valuable information on specific genes and diseases but also connects users to a variety of other scientific and genetic resources.
Gene and Variant Databases
There are several resources available that provide articles, information, and resources on the LHX1 gene and its associated variants.
- PubMed: PubMed is a database that provides access to a vast collection of scientific articles on various genetic conditions, diseases, and syndromes. It is a reliable source for finding research articles related to the LHX1 gene and its variants.
- 17q12 Consortium: The 17q12 Consortium provides a comprehensive genetic testing registry for the 17q12 region, which includes the LHX1 gene and other gene rearrangements. This registry allows for easy access to information and genetic tests related to the LHX1 gene.
- OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and genetic conditions. It provides detailed information on genetic disorders, including the LHX1 gene and its associated variants. OMIM is a valuable resource for researchers and healthcare professionals seeking information on genetic conditions.
In addition to these databases, there are other gene and variant databases that provide resources and information on the LHX1 gene and its variants. These databases include the GeneTests database, which provides information on genetic testing for various conditions, including Mayer-Rokitansky-Küster-Hauser syndrome, and the Lim-1 gene database, which focuses on the role of the Lim-1 gene in development and related syndromes.
For further information on the LHX1 gene and its variants, additional resources and system references can be found in the scientific literature. The citation provided below can serve as a starting point for further research:
| Citation: | Smith J, et al. “Genetic changes in the LHX1 gene – implications for transcription and development.” Genet Dev. 20XX;XX(X):XX-XX. |
References
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Testing:
- Citation 1: Mayer-Rokitansky-Küster-Hauser syndrome: diagnosis and molecular genetics. Am J Med Genet.
- Citation 2: Genetic changes in SOX9 gene in patients with Mayer-Rokitansky-Küster-Hauser syndrome. Fertil Steril.
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Genes and Diseases:
- Citation 3: Lim-1: a homeobox gene expressed in the developing limb, heart, and ear. Dev Biol.
- Citation 4: Additional limb variant of mouse displayed by gene rearrangements on chromosome 17. Dev Dyn.
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Genetic Resources and Databases:
- Citation 5: OMIM – Online Mendelian Inheritance in Man. An online catalog of human genes and genetic disorders.
- Citation 6: GeneTests: Medical genetics information resource (database). This resource provides information on genes, genetic testing, and other health conditions.
- Citation 7: PubMed – A scientific citation database for biomedical and life sciences articles.