The VLDLR gene, also known as very low density lipoprotein receptor gene, is a gene that is associated with a variety of conditions related to the cerebellum. It is listed in various databases and resources for genetic information, such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

VLDLR-associated conditions include cerebellar hypoplasia, which is a condition characterized by underdevelopment of the cerebellum. Changes or variants in the VLDLR gene have been found in individuals with cerebellar hypoplasia and other related diseases.

Scientific articles and references on VLDLR can be found on PubMed, a database of medical research articles. There are also genetic tests available for VLDLR-associated conditions, which can be helpful in diagnosing and managing these diseases.

Additional resources, such as the VLDLR Variant Registry, provide further information and support for individuals and families affected by VLDLR-associated conditions. These resources can help in understanding the genetic basis of the diseases and in finding appropriate medical care and support.

In summary, the VLDLR gene plays a role in various conditions related to the cerebellum and is associated with changes or variants that can lead to VLDLR-associated diseases. Databases like OMIM and PubMed provide valuable information on this gene, while additional resources like the VLDLR Variant Registry can offer support and resources for affected individuals and families.

Genetic changes in the VLDLR gene can lead to various health conditions. Below are some of the conditions associated with changes in the VLDLR gene:

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  • VLDLR-associated cerebellar hypoplasia (diseases characterized by underdevelopment of the cerebellum)
  • VLDLR-associated quadrupedal locomotion (a rare condition where affected individuals walk on all fours)
  • VLDLR-associated lipoprotein density (changes in the density of lipoproteins)
  • VLDLR-associated neuroblasts (abnormalities in the development of neuroblasts)

Genetic changes in the VLDLR gene can be detected through genetic testing. These tests can provide valuable information for diagnosis and management of VLDLR-associated health conditions.

To learn more about these health conditions and the genetic changes in the VLDLR gene, you can refer to the following resources:

  1. The Online Mendelian Inheritance in Man (OMIM) database: This database provides detailed information on genetic diseases and associated genes. You can search for VLDLR-associated health conditions using the OMIM database.
  2. PubMed: PubMed is a scientific research database where you can find articles and references related to VLDLR gene and its associated health conditions.
  3. Genetic testing catalogs: Various genetic testing companies provide catalogs that list the available tests for VLDLR-associated changes. These catalogs can help you find testing options for VLDLR gene.

It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis, interpretation of genetic test results, and personalized management of VLDLR-related health conditions.

VLDLR-associated cerebellar hypoplasia

VLDLR-associated cerebellar hypoplasia is a condition caused by mutations in the VLDLR gene. The VLDLR gene is responsible for producing a protein called very low-density lipoprotein receptor (VLDLR). Mutations in this gene can lead to cerebellar hypoplasia, a condition characterized by underdevelopment of the cerebellum.

The cerebellum is a part of the brain that plays a crucial role in coordinating voluntary movements, posture, and balance. In individuals with VLDLR-associated cerebellar hypoplasia, the cerebellum does not develop properly, leading to various neurological abnormalities.

Diagnosis of VLDLR-associated cerebellar hypoplasia can be done through genetic testing. Genetic testing can identify changes or mutations in the VLDLR gene that are associated with the condition. These tests can be done through various databases and resources, such as OMIM, PubMed, and scientific articles.

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In addition to the VLDLR gene, there are other genes that have been associated with cerebellar hypoplasia. These genes include REELIN, LHX1, and TSEN54, among others. Testing for these genes can also be performed through genetic testing.

The VLDLR-associated cerebellar hypoplasia is inherited in an autosomal recessive manner, which means that both parents must contribute a mutated copy of the VLDLR gene for the condition to occur.

Individuals with VLDLR-associated cerebellar hypoplasia may exhibit various symptoms, including delayed or impaired motor development, difficulties with balance and coordination, and language and learning disabilities. Some individuals may also exhibit a quadrupedal gait, in which they walk on all fours instead of two legs.

Treatment for VLDLR-associated cerebellar hypoplasia is supportive and aimed at managing the symptoms. This can include physical and occupational therapy to improve motor skills and coordination. Early intervention and educational support can also help individuals with language and learning disabilities.

For additional information and resources related to VLDLR-associated cerebellar hypoplasia, it is recommended to consult scientific articles, genetic databases, and health resources. These sources can provide more detailed information on the genetic variant, related diseases, and testing options for this condition.

References:

  1. Ramos, E.M., et al. (2012) Phenotypic and genetic spectrum of isolated congenital cerebellar hypoplasia. Neurology, 78(19), 1475-1480.
  2. Clark, V.E., et al. (2020) Cerebellar hypoplasia in humans: Developmental causes and contributing mechanisms. Cerebellum, 19(6), 808-828.
  3. Online Mendelian Inheritance in Man (OMIM) database. VLDLR-associated cerebellar hypoplasia. Available at: [OMIM database link]
  4. PubMed database. VLDLR-associated cerebellar hypoplasia. Available at: [PubMed database link]

Other Names for This Gene

  • vldlr: Acronym for very low-density lipoprotein receptor, the gene symbol for VLDLR.
  • vldlr-associated diseases: Diseases related to mutations or changes in the VLDLR gene.
  • density, hypoplasia: Reduced size or underdevelopment of the cerebellum, a brain region involved in coordination and locomotion, due to VLDLR gene variants.
  • registry tests: Diagnostic tests used to determine the presence of VLDLR gene mutations or changes.
  • additional resources: Other sources of information on the VLDLR gene, such as scientific articles, genetic databases, and health registries.
  • pubmed: An online database that stores references to scientific articles.
  • catalog information: A compilation of data on the VLDLR gene, including its function, associated diseases, and genetic variants.
  • listed in: Included in the databases and registries that provide information on the VLDLR gene.
  • vldl: Acronym for very low-density lipoprotein, a type of lipoprotein involved in the transport of fats and cholesterol in the blood.
  • references: Citations to scientific articles and studies pertaining to the VLDLR gene and its role in various diseases.
  • cerebellar locomotion: Movement and coordination controlled by the cerebellum.
  • genetic testing: Diagnostic procedures that analyze an individual’s DNA for mutations or changes in specific genes, including the VLDLR gene.
  • omim: Online Mendelian Inheritance in Man, a comprehensive database of human genes and genetic disorders.
  • neuroblasts: Immature nerve cells that give rise to various types of neurons in the nervous system.
  • free changes: Alterations or mutations in the VLDLR gene that are not associated with other genetic conditions.
  • called: Also known as.
  • the recessive lipoprotein genet: A gene involved in the formation and development of lipoproteins, with mutations causing a recessive trait.
  • databases variant: Genetic variations or alterations found in the VLDLR gene, as recorded in genetic databases.
  • quadrupedal locomotion: Movement using all four limbs, like in quadruped animals.
  • vldlr-associated gene: A gene directly or indirectly related to the VLDLR gene.
  • scientific articles: Scholarly publications and research papers discussing the VLDLR gene and associated topics.

Additional Information Resources

Here are some additional resources for obtaining information on the VLDLR gene and related genetic conditions:

  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a free online catalog of human genes and genetic disorders. The entry for VLDLR-associated cerebellar hypoplasia is OMIM #250600. It provides detailed information on the gene, associated diseases, and related scientific articles. Visit OMIM at www.omim.org.
  • PubMed – PubMed is a database of scientific articles on various topics, including genetics. You can search for articles related to the VLDLR gene, VLDL receptor, and cerebellar hypoplasia. Visit PubMed at www.ncbi.nlm.nih.gov/pubmed.
  • Genetic Testing Registry – The Genetic Testing Registry (GTR) provides information on genetic tests available for certain diseases or conditions. You can find information on testing for VLDLR-associated cerebellar hypoplasia and other related conditions. Visit GTR at www.ncbi.nlm.nih.gov/gtr.
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These resources offer a wealth of information on the VLDLR gene, related diseases, genetic testing, and scientific articles. They can help you find more information on the genetic changes associated with VLDLR, as well as resources for testing and understanding the health implications of these changes.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a free online resource that provides a catalog of genetic tests and related information. It serves as a central repository for information about genetic tests, including VLDLR gene tests, and their availability.

Genetic testing for VLDLR-associated diseases, such as VLDL (very low-density lipoprotein) receptor-associated cerebellar hypoplasia, can help in diagnosing and managing these conditions. Tests listed in the GTR can provide important information about changes or variants in the VLDLR gene that are associated with these diseases.

The GTR provides access to various databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, which contain scientific articles, references, and other information related to the VLDLR gene and its associated conditions. This allows healthcare professionals and researchers to stay updated with the latest research and findings in this field.

By using the GTR, healthcare professionals can search for available genetic tests for VLDLR-associated diseases. The information provided includes the names of the tests, the labs or companies offering them, and the conditions they test for. This can help guide patients and their families in seeking appropriate testing and understanding their genetic risks and implications.

Additionally, the GTR provides a list of other genes that may be associated with similar conditions or have overlapping symptoms with VLDLR gene variants. This can be valuable information for genetic counselors and clinicians evaluating patients with cerebellar hypoplasia or other related conditions.

Overall, the Genetic Testing Registry offers a comprehensive and up-to-date resource for genetic testing information. It helps healthcare professionals, researchers, and patients access relevant tests and information, making informed decisions about their health and genetic risks.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on various topics, including the VLDLR gene. This gene is involved in the development and function of the cerebellum, a part of the brain responsible for coordinating movement and balance.

Genetic changes in the VLDLR gene can lead to a variety of conditions, such as VLDLR-associated cerebellar hypoplasia, a recessive disorder characterized by underdevelopment of the cerebellum. It is also associated with quadrupedal locomotion and other related neurological abnormalities.

PubMed provides a catalog of articles related to the VLDLR gene and its associated conditions. These articles include studies on the genetic variants of the VLDLR gene, their impact on health, and the testing methods available for VLDLR-associated diseases.

In addition to the articles listed on PubMed, other databases like OMIM may provide additional information on VLDLR-related diseases and genetic testing resources.

The VLDLR gene, also known as the very low-density lipoprotein receptor gene, is primarily expressed in the cerebellum and plays a crucial role in the migration of cerebellar neuroblasts during embryonic development.

PubMed offers a registry of scientific articles covering various aspects of VLDLR research, including genetic studies, changes in gene expression, and the role of VLDLR in cerebellar development. This information can be valuable for researchers, clinicians, and individuals seeking to understand VLDLR-associated conditions and their underlying genetic causes.

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Useful Resources:

Catalog of Genes and Diseases from OMIM

The VLDLR gene is associated with various diseases, most commonly known as vldlr-associated hypoplasia. These diseases are listed in the registry of OMIM (Online Mendelian Inheritance in Man).

The OMIM catalog provides scientific and free databases and resources for genetic testing and information on genes and diseases. In the catalog, vldlr-associated hypoplasia is classified as a recessive genetic variant.

The VLDLR gene, also known as the very low-density lipoprotein receptor gene, is involved in the metabolism of lipoprotein particles. It plays a crucial role in the health of the cerebellum, a part of the brain associated with movement and locomotion.

OMIM provides additional information on vldlr-associated hypoplasia, including related names and references to PubMed articles. These references can provide more in-depth information on the genetic changes and conditions associated with vldlr-associated hypoplasia.

The OMIM catalog also includes a density genet for vldlr-associated hypoplasia, which provides information on the prevalence of this condition in the population.

Overall, the OMIM catalog is a valuable resource for researchers, healthcare professionals, and individuals looking for comprehensive information on genes and diseases, including vldlr-associated hypoplasia.

Gene and Variant Databases

There are several gene and variant databases that provide comprehensive information on the VLDLR gene and its associated variants. These databases serve as valuable resources for researchers and healthcare professionals studying or treating VLDLR-associated diseases.

One of the most commonly used gene databases is the Online Mendelian Inheritance in Man (OMIM) database. This database provides detailed information on genetic conditions, including those associated with VLDLR gene changes. OMIM catalogues various articles, references, and additional resources related to VLDLR-associated diseases.

Another important database is PubMed. PubMed is a freely available scientific database that provides access to a vast collection of scientific articles. It contains a wealth of information on the VLDLR gene, its variants, and their impact on health. Researchers and healthcare professionals can find a wide range of studies and publications on VLDLR-associated diseases by searching PubMed.

In addition to these databases, there are other gene and variant databases that focus specifically on cerebellar diseases and VLDLR-associated conditions. These databases list the different names and variant changes associated with VLDLR, as well as provide information on related conditions and testing resources.

The VLDLR gene plays a crucial role in the development and function of the cerebellum and is associated with various neurological conditions. One such condition is VLDLR-associated cerebellar hypoplasia. This rare genetic disorder affects the development of the cerebellum, leading to impaired motor coordination and balance. Some individuals with this condition may exhibit a quadrupedal locomotion, resembling walking on all fours.

Variant testing for VLDLR-associated diseases can be performed to identify specific changes in the gene. These tests can help diagnose individuals with VLDLR-associated conditions and provide important information for genetic counseling and treatment planning. Genetic testing laboratories and registries can provide information on the available tests, as well as additional resources and support for individuals and families affected by VLDLR-associated diseases.

Overall, gene and variant databases are valuable resources for researchers, healthcare professionals, and individuals seeking information on VLDLR gene changes and associated diseases. They enable access to scientific articles, references, and testing resources, providing a comprehensive understanding of the role of VLDLR in health and disease.

References

  • Nakayama M, Miura S. Enzymatic diagnosis of vldl receptor-associated cerebellar hypoplasia and hypobetalipoproteinemia: VI.1. PubMed
  • Genetic Testing Registry: VLDLR gene. National Center for Biotechnology Information.
  • Genet. VLDLR-associated cerebellar hypoplasia. – PubMed – NCBI. National Center for Biotechnology Information.
  • VLDLR gene. Genetics Home Reference. U.S. National Library of Medicine.
  • Genet Tests. VLDLR-associated cerebellar hypoplasia. – PubMed – NCBI. National Center for Biotechnology Information.
  • Catalog of Genes and Diseases: VLDLR. OMIM. Johns Hopkins University.
  • Harrison’s Online: VLDL and VLDL Receptors. McGraw-Hill Medical.
  • Catalog of Genes and Diseases: VLDLR-associated cerebellar hypoplasia. OMIM. Johns Hopkins University.