The LMX1B gene is a variant gene that provides important information for understanding and diagnosing various conditions related to the nail-patella syndrome. It is one of the genes listed in public databases such as PubMed, where scientific articles and references can be found.

The LMX1B gene, also known as the LIM homeobox transcription factor 1-beta gene, is responsible for encoding a protein that plays a crucial role in the development of limbs, kidneys, and the nail-patella syndrome. This gene is commonly associated with nail abnormalities and other skeletal and renal conditions.

Researchers and medical professionals can access resources and testing options for LMX1B gene changes from registries, such as the Seattle Registry, as well as other health databases. These resources provide additional information and testing options to determine genetic deletions or other alterations in the LMX1B gene and related syndromes.

By studying the LMX1B gene, scientists have made significant discoveries about the causes and mechanisms behind various diseases and conditions. It is essential to further explore this gene to develop better diagnostic tests, treatments, and therapies for patients affected by LMX1B gene abnormalities.

Genetic changes in the LMX1B gene have been associated with several health conditions. Information on these conditions can be found in scientific articles, databases, and other resources. This section provides a list of conditions related to genetic changes in the LMX1B gene.

Nail-Patella Syndrome

Nail-Patella Syndrome (NPS) is a genetic disorder caused by mutations or deletions in the LMX1B gene. This syndrome is characterized by abnormalities of the nails, kneecaps, elbows, and kidneys. Some individuals with NPS may also have eye, skeletal, and other health problems.

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Other Health Conditions

In addition to NPS, genetic changes in the LMX1B gene have been associated with other health conditions. These conditions may include:

  • Structural anomalies of the nail
  • Deformities of the knee joint
  • Developmental abnormalities of the elbow
  • Kidney abnormalities
  • Eye abnormalities
  • Skeletal abnormalities

It is important to note that not all individuals with genetic changes in the LMX1B gene will develop these health conditions. The specific effects of LMX1B gene variants can vary from person to person.

Testing and Resources for Health Conditions Related to LMX1B Gene Changes

If you suspect that you or someone you know may have a health condition related to genetic changes in the LMX1B gene, it is recommended to consult with a healthcare professional. They can provide further information and order appropriate genetic tests if necessary.

There are several resources available to learn more about LMX1B gene-related health conditions:

  • PubMed: A database of scientific articles that provides information on research related to LMX1B gene changes and associated health conditions.
  • OMIM: The Online Mendelian Inheritance in Man database, which provides comprehensive information on genes and genetic disorders.
  • Seattle Genetic Variants: A database that catalogs genetic variants, including those in the LMX1B gene, associated with various health conditions.
  • Registry of Interpreted Genes and Variants (RIV4): A database that provides curated information on genetic changes and their clinical significance.
See also  PRKAG2 gene

These resources can provide valuable information on the genetic changes, health conditions, and testing options related to the LMX1B gene.

Nail-patella syndrome

Nail-patella syndrome, also known as Onychoosteodysplasia or Fong disease is a rare genetic disorder caused by mutations in the LMX1B gene. It is characterized by abnormalities in the nails, kneecaps, elbows, and pelvis.

The LMX1B gene provides instructions for making a protein that is involved in the development of several body tissues, including the nails, bones, and kidneys.

People with nail-patella syndrome may have abnormal or absent nails, kneecap abnormalities, elbow deformities, and pelvic abnormalities. They may also experience kidney problems, such as decreased kidney function or abnormal urine protein levels.

Diagnosis of nail-patella syndrome can be confirmed through genetic testing to identify mutations in the LMX1B gene. Other tests, such as imaging studies and kidney function tests, may also be performed to assess the severity of the condition and monitor related health issues.

More information on nail-patella syndrome can be found in scientific articles and databases such as PubMed and OMIM. These resources provide additional references, genes related to the condition, and information on genetic deletions and variant changes.

In addition to nail-patella syndrome, the LMX1B gene is also associated with other conditions listed in genetic databases. These include McIntosh syndrome, a similar disorder characterized by skeletal and kidney abnormalities.

For individuals and families affected by nail-patella syndrome, there are support resources available such as the Nail-Patella Syndrome Registry, which provides information, resources, and assistance in finding healthcare professionals experienced in treating the condition.

Overall, nail-patella syndrome is a rare genetic disorder, and additional research and clinical studies are needed to further understand the disease and develop effective treatments.

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Additional Information Resources

Here is a list of additional resources that provide information about the LMX1B gene, deletions, variants, and related conditions:

  • Nail-Patella Syndrome Registry: A registry for individuals and families affected by nail-patella syndrome. Provides information on genetic testing, changes in the LMX1B gene, and other related conditions.
  • Online Mendelian Inheritance in Man (OMIM): A catalog of human genes and genetic disorders. Provides detailed information on the LMX1B gene and its role in nail-patella syndrome, as well as references to scientific articles.
  • PubMed: A database of scientific articles. Can be searched for articles on the LMX1B gene, nail-patella syndrome, and related genetic syndromes.
  • Seattle Children’s Hospital Gene Testing Laboratory: Offers genetic testing for nail-patella syndrome and other related conditions. Provides information on the testing process and how to order tests.

In addition to these resources, there are other databases, articles, and online resources that can provide further information on the LMX1B gene, its variants, and associated health conditions. It is recommended to consult with healthcare professionals and genetic counselors for personalized information and guidance.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) contains information about genetic tests for the LMX1B gene. The GTR provides a variety of resources including scientific articles, reference sequences, databases, OMIM, and Pubmed references. The registry also includes information about related genes, diseases, and conditions associated with LMX1B.

  • McIntosh syndrome
  • Nail-patella syndrome
See also  HADHA gene

The GTR lists the following tests for the LMX1B gene:

  1. LMX1B gene testing
  2. Genetic variant testing for LMX1B
  3. Deletions and changes in the LMX1B gene testing

In addition to the tests listed in the GTR, there are other tests available for scientific research purposes. These tests may provide additional information about the LMX1B gene and its role in various diseases and conditions.

For more information about LMX1B and related genes, you can refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders
  • PubMed – a database of scientific articles related to genetics and genomics
  • Seattle Children’s Hospital – a trusted source for genetic testing and information

It is important to consult with a healthcare professional or genetic counselor before undergoing any genetic testing or making any medical decisions based on the results.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the LMNX1B gene and its associated conditions. PubMed is a comprehensive catalog of biomedical literature, including genetic research articles and studies.

One of the main genetic conditions associated with the LMNX1B gene is the Nail-Patella Syndrome (NPS). Many articles in PubMed provide detailed information on the genetic changes and variant testing for NPS and other related conditions.

Additional information on the LMNX1B gene and its related conditions can be found in the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a wealth of information on genes, genetic conditions, and associated symptoms.

The McIntosh Syndrome, another condition associated with the LMNX1B gene, is also discussed in scientific articles on PubMed. These articles provide insights into the genetic changes and testing recommendations for this rare condition.

Seattle Children’s Hospital maintains a registry of genetic tests and related information. This database can be a valuable resource for finding available tests and testing laboratories for genes like LMNX1B and related conditions.

PubMed also provides references to articles and studies on other genes and genetic conditions that may be related to LMNX1B. This can aid in understanding the broader context of this gene in human health.

In summary, PubMed is a reliable source for finding scientific articles and studies on the LMNX1B gene and its associated conditions. It provides access to a wealth of information on genetic changes, testing recommendations, and related genes and diseases.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic disorders. This valuable resource provides information on various genes and their associated diseases, including the LMX1B gene and nail-patella syndrome.

Nail-patella syndrome is a condition characterized by abnormalities in the nails, bones, and joints. It is caused by changes in the LMX1B gene, which is involved in the development of these structures.

The OMIM catalog lists the LMX1B gene as associated with nail-patella syndrome and provides additional information, such as the variant changes and deletions that can occur in this gene.

In addition to LMX1B and nail-patella syndrome, OMIM contains information on numerous other genes and diseases. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health.

For more detailed information on LMX1B and nail-patella syndrome, OMIM provides references to scientific articles and other resources. These references can be found on the OMIM website or in the PubMed database.

See also  Noonan syndrome with multiple lentigines

OMIM also offers genetic testing resources for health professionals and individuals seeking genetic testing for nail-patella syndrome or other related conditions. The registry of genetic tests available on OMIM provides names, testing laboratories, and additional information on these tests.

Overall, OMIM is a comprehensive catalog that provides information on genes, diseases, and genetic testing resources. It serves as a valuable tool for researchers, healthcare professionals, and individuals interested in understanding genetic conditions.

Gene and Variant Databases

Nail-patella syndrome (NPS) is a condition characterized by abnormalities of the nails and kneecaps. It is caused by deletions or changes in the LMX1B gene, which plays a crucial role in the development of these structures. NPS can affect various aspects of health, including the musculoskeletal system, kidneys, and eyes.

There are several gene and variant databases that provide valuable information about LMX1B gene and related conditions. These databases include:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive resource that provides detailed information on various genetic diseases, including NPS. It offers a wealth of information about the LMX1B gene, its variants, and associated syndromes. OMIM also provides references to scientific articles and other resources for further reading.
  • The Seattle LMX1B Registry: The Seattle LMX1B Registry is a specialized database dedicated to collecting information on individuals with LMX1B gene mutations. It allows researchers and healthcare professionals to access clinical data, genetic testing results, and other relevant information about NPS and related conditions.
  • GeneTests: GeneTests is a database that offers comprehensive information about genetic testing for various conditions, including NPS. It provides a list of laboratories that offer LMX1B gene testing, along with detailed descriptions of the specific tests they perform. This resource is particularly useful for individuals seeking genetic testing for NPS or related conditions.

In addition to these databases, there are other resources available that provide information on genes, variants, and associated diseases. These include the Catalog of Genes and Diseases (CGD) and PubMed, a database of scientific articles.

It is important to note that the information provided in these databases should be used for reference purposes only. While they offer valuable insights into the genetics of NPS and related conditions, they should not be used as a substitute for professional medical advice. Individuals seeking specific information or advice about genetic testing or the management of NPS should consult with a healthcare professional or genetic counselor.

References

  • McIntosh I. Lmx1b. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1252/
  • Grossfeld PD, Mattina T, Lai Z, et al. The LIM domain gene LMX1B affects the development of the cap mesenchyme during kidney development. In: Am J Hum Genet. 2000 Oct;67(4):819-6. doi: 10.1086/303074. PMID: 10951531.
  • Nail-patella syndrome. Genetics Home Reference. U.S. National Library of Medicine. Available from: https://ghr.nlm.nih.gov/condition/nail-patella-syndrome
  • OMIM entry – #602086 – NAIL-PATELLA SYNDROME. Available from: https://omim.org/entry/602086
  • Seattle Children’s Hospital Nail-Patella Syndrome. Available from: http://www.seattlechildrens.org/medical-conditions/genetic-conditions/nail-patella-syndrome/
  • Nail-Patella Syndrome. Online Mendelian Inheritance in Man (OMIM). Available from: https://omim.org/entry/161200#000250
  • Nail-patella syndrome. Genetic and Rare Diseases Information Center (GARD). Available from: https://rarediseases.info.nih.gov/diseases/7512/nail-patella-syndrome
  • Testing for LMX1B Gene. Genetic Testing Registry (GTR). Available from: https://www.ncbi.nlm.nih.gov/gtr/tests/3356/
  • Variant testing – LMX1B. Seattle Children’s Hospital. Available from: http://www.seattlechildrens.org/clinics/genetics/services/variant-testing/gene-info/abca4/
  • LMX1B gene – Genetics Home Reference. U.S. National Library of Medicine. Available from: https://ghr.nlm.nih.gov/gene/LMX1B