The ALPL gene, also known as alkaline phosphatase, liver-bone-kidney type, is responsible for encoding the enzyme that is involved in the mineralization of bones. Mutations in this gene can lead to various skeletal disorders, including hypophosphatasia. Hypophosphatasia is a rare genetic condition characterized by low levels of alkaline phosphatase, leading to abnormalities in bone formation and mineralization.

Research on the ALPL gene and its role in skeletal diseases has been extensively documented in scientific articles and databases such as PubMed, OMIM, and the Mutations in Human Genetic Disease (MUTbase) registry. These resources provide valuable information on the genetic changes in the ALPL gene and their correlations with different bone-related conditions.

Testing for mutations in the ALPL gene is crucial for the diagnosis of hypophosphatasia and other related diseases. Non-specific symptoms, such as delayed or impaired motor development, fractures, and changes in tooth eruption, can make diagnosis challenging. However, genetic testing can help identify specific variants in the ALPL gene and confirm the diagnosis.

Additional tests, such as bone-specific alkaline phosphatase levels, can further support the diagnosis. People who test positive for ALPL gene mutations may benefit from early intervention and management strategies to improve their quality of life and overall health.

Genetic changes in the ALPL gene can lead to various health conditions, with one of the most well-known being hypophosphatasia. This condition is characterized by low levels of an enzyme called alkaline phosphatase, which is produced by the ALPL gene. The severity of hypophosphatasia can vary widely, with some individuals experiencing mild symptoms and others facing life-threatening complications.

To determine if genetic changes in the ALPL gene are responsible for health issues, additional testing may be necessary. The Online Mendelian Inheritance in Man (OMIM) catalog and the PubMed database are valuable resources for finding more information on genetic changes and their associated health conditions. They provide scientific articles, references, and instructions for genetic tests related to the ALPL gene.

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The ALPL gene is not the only gene associated with these conditions, and there may be other genes or genetic variants that contribute to similar health problems. The Brun-Heath Phenotype-Genotype Correlations in Hypophosphatasia database is a valuable resource for exploring the relationships between specific genetic variations and health conditions.

Some of the health conditions related to genetic changes in the ALPL gene include:

  • Hypophosphatasia
  • Mornet disease
  • Non-specific skeletal conditions

In addition to these conditions, genetic changes in the ALPL gene can also affect the levels of phosphorus in the body and lead to abnormalities in bones and teeth.

It is important for individuals with health conditions related to genetic changes in the ALPL gene to consult with healthcare professionals and genetic specialists for proper diagnosis, management, and treatment. Genetic counseling may also be beneficial for individuals and families affected by these conditions.

Hypophosphatasia

Hypophosphatasia (HPP) is a rare genetic disorder that affects the development of bones and teeth. It is caused by mutations in the ALPL gene, which is responsible for producing an enzyme called alkaline phosphatase. This enzyme is essential for the normal mineralization of bones and teeth, as it helps regulate the levels of phosphorus in the body.

HPP can affect people of all ages, from infants to adults. In infants, the most severe form of the disease is known as perinatal lethal hypophosphatasia. This form is usually fatal, as it leads to severe skeletal abnormalities and respiratory failure. Other forms of the disease include infantile, childhood, and adult HPP, which vary in severity and age of onset.

See also  Pendred syndrome

Diagnosis of HPP can be challenging, as the symptoms can be non-specific and vary widely between individuals. However, there are several tests that can be used to confirm a diagnosis. These include blood tests to measure alkaline phosphatase activity, as well as genetic testing to identify mutations in the ALPL gene. Additional tests, such as bone X-rays and dental exams, may also be performed to assess the extent of skeletal and dental abnormalities.

The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of diseases and genes related to HPP. It includes information on the genetic changes associated with the disease, as well as correlations between specific mutations and clinical manifestations. The database also offers resources for genetic testing, including instructions for ordering tests and a registry of testing facilities.

References to scientific articles and databases, such as PubMed and Epub, can provide further information on the diagnosis and management of HPP. These resources may include information on other conditions that can cause similar symptoms, as well as guidelines for treatment and care.

In conclusion, hypophosphatasia is a rare genetic disorder that affects the development of bones and teeth. It is caused by mutations in the ALPL gene and is characterized by low levels of alkaline phosphatase and impaired phosphorus regulation. Diagnosis can be challenging, but there are tests available to confirm the presence of the disease. Further research and resources are available to provide information on the management and treatment of HPP.

Other Names for This Gene

The ALPL gene is known by several other names, including:

  • ALP
  • TNSALP
  • TNSALP1
  • Tissue non-specific alkaline phosphatase
  • AKP2
  • ALP-TNS
  • ALPX
  • TNSALPX
  • LAP
  • LPA

These different names are used in different contexts and have correlations to various testing and related genes. The ALPL gene is responsible for the production of the tissue non-specific alkaline phosphatase enzyme which is involved in the regulation of phosphorus and mineralization of bones and teeth.

References to ALPL can be found in several databases and resources such as OMIM (Online Mendelian Inheritance in Man) which provides information on genes and genetic conditions, PubMed which contains scientific articles and references, and the Brun-Heath Phenotype-Genotype Correlations in Hypophosphatasia database which collects clinical and genetic information from people with hypophosphatasia. Additional information on testing this gene, variant changes, and related conditions can be found in scientific articles and resources.

Additional Information Resources

For additional information on ALPL gene, bones, and related diseases, the following resources can be useful:

  • PubMed: A scientific publication database where you can find research articles and studies related to ALPL gene, bones, and diseases.
  • References: The references section of scientific papers can provide further sources for in-depth reading.
  • Mornet and Brun-Heath Catalog: A genetic mutations catalog for ALPL gene and other relevant genes involved in hypophosphatasia.
  • Hypophosphatasia Gene Mutation Database: A registry of gene mutations responsible for hypophosphatasia and related conditions.
  • Health Databases: Various health databases might provide information on ALPL gene, bone health, and related conditions.
  • ALPL Epub Tests: Non-specific gene testing instructions for ALPL gene mutations.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive resource providing information on genes, variants, and related conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central database that provides information on genetic tests, including the ALPL gene. It catalogues tests and their associated conditions, genes, and variants. This comprehensive resource offers valuable information for healthcare professionals, researchers, and individuals interested in genetic testing.

The GTR contains a variety of tests related to the ALPL gene. These tests are designed to detect changes or mutations in the ALPL gene, which is responsible for certain conditions and diseases such as hypophosphatasia.

See also  KCNQ4 gene

Some of the tests listed in the GTR include:

  • Brun-Heath ALPL Testing – This test focuses on the ALPL gene and detects specific gene mutations associated with hypophosphatasia.
  • Non-Specific ALPL Gene Testing – This test examines the ALPL gene for any changes or variants that may be related to various conditions.
  • ALPL Variant Analysis – This test specifically analyzes different variants of the ALPL gene to determine their potential implications for health.

In addition to these specific tests, the GTR provides information on scientific articles, references, and databases that offer more in-depth knowledge on the ALPL gene and its relevance to health. These resources include OMIM, PubMed, and other related genetic databases.

By accessing the GTR and exploring the tests listed for the ALPL gene, healthcare professionals and individuals can gain valuable insights into the genetic basis of diseases and conditions related to the ALPL gene. These tests and resources can aid in diagnosis, treatment decisions, and genetic counseling for individuals and families affected by ALPL gene-related conditions.

Scientific Articles on PubMed

Conditions – Many scientific articles on PubMed focus on the ALPL gene and its role in various conditions.

Epub, on which references to instructions listed- Several articles are available in electronic form that provide instructions and references regarding the ALPL gene.

Phosphorus – Studies on the ALPL gene often investigate the role of phosphorus in relation to gene mutations.

Mornet in variant registry from genes – The Mornet variant registry contains information about different gene variants, including the ALPL gene.

People, genes, testing, information – Scientific articles on PubMed provide valuable information about genetic testing for the ALPL gene and its relevance to various conditions in people.

Pubmed, this, mutat, for correlations, resources – PubMed is a commonly used database for finding articles related to mutations in the ALPL gene and their correlations with different resources and conditions.

Additional related Brun-Heath health tests- Other related health tests, such as those developed by Brun-Heath, may also provide information on the ALPL gene.

Genetic and diseases – The ALPL gene is associated with various genetic diseases, and scientific articles on PubMed provide insights into these associations.

These OMIM gene names, bones, articles, databases – OMIM gene names related to bones and other scientific articles and databases often include information about the ALPL gene.

Tests responsible catalog changes of the non-specific- Testing the ALPL gene can be responsible for catalog changes in non-specific conditions.

Overall, PubMed is a valuable resource for finding scientific articles and information related to the ALPL gene and its role in various conditions and diseases. Researchers can explore the database for additional resources and correlations between gene mutations and health outcomes.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides information on the ALPL gene and its related diseases and conditions. One of the diseases associated with the ALPL gene is hypophosphatasia.

In individuals with hypophosphatasia, the ALPL gene provides instructions for making an enzyme called alkaline phosphatase. This enzyme is involved in the normal development and maintenance of bones. Mutations in the ALPL gene can lead to a shortage of functional alkaline phosphatase, resulting in the signs and symptoms of hypophosphatasia.

The OMIM database is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions. It provides comprehensive information on various genes, diseases, and genetic mutations.

The catalog includes information on the ALPL gene and its role in hypophosphatasia, as well as other related genes and their non-specific variant changes. Additionally, it provides resources for genetic testing, references to scientific articles and other databases, and correlations between genetic changes and various conditions.

See also  SFRP4 gene

People interested in learning more about hypophosphatasia and the ALPL gene can find additional information and references in the OMIM database. The catalog also includes the Brun-Heath registry, which contains additional data on genetic mutations and related diseases.

Overall, the OMIM catalog serves as a comprehensive and up-to-date resource for information on genes, diseases, and genetic conditions, providing valuable insights for researchers, healthcare professionals, and individuals seeking knowledge in this field.

Gene and Variant Databases

There are several gene and variant databases that provide valuable information on the ALPL gene and related variants. These databases serve as comprehensive resources for genetic research and testing, offering information on genetic changes, correlations with diseases, and additional references for further study.

One such database is the Online Mendelian Inheritance in Man (OMIM), which is a comprehensive catalog of human genes and genetic disorders. The OMIM database provides detailed information on the ALPL gene, its associated variants, and the diseases they are responsible for.

Another important database is the ALPL Gene Mutation Database, which is a registry of genetic changes in the ALPL gene. This database provides information on specific mutations in the ALPL gene that are associated with the rare genetic disorder hypophosphatasia.

The ALPL Gene Mutation Database includes information on the names and clinical characteristics of these mutations, as well as instructions for testing and correlations with phosphorus metabolism and bone health.

In addition to these specific gene and variant databases, there are other resources for genetic information such as PubMed, where scientific articles related to the ALPL gene and hypophosphatasia can be found. PubMed provides access to a vast collection of scientific literature and references from various journals and publications.

Furthermore, there are other scientific databases, such as the Catalog of Mutations of the Brun-Heath Hypophosphatasia Gene, which provide additional resources for studying the ALPL gene and related mutations. These databases offer non-specific genetic information related to the ALPL gene, including gene mutat.testss and correlations with various diseases and health conditions.

In summary, gene and variant databases offer valuable resources for studying the ALPL gene and its associated variants. These databases provide comprehensive information on genetic changes, correlations with diseases, and additional references for further research on the ALPL gene and hypophosphatasia.

References

Here is a list of references to further explore the topic of ALPL gene:

  • ALPL. In: Genetics Home Reference [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; [last update 2015 Dec 09; cited 2021 Sep 23]. Available from: https://ghr.nlm.nih.gov/gene/ALPL

  • In: OMIM�Online Mendelian Inheritance in Man [Internet]. Baltimore (MD): Johns Hopkins University; �[updated 2021 Sep 08; cited 2021 Sep 23]. Available from: https://omim.org/entry/171760

  • In: GeneReviews� [Internet]. Seattle (WA): University of Washington, Seattle; [1993-2021]. Hypophosphatasia. [updated 2020 Nov 12; cited 2021 Sep 23]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1150/

  • Brun-Heath I, Bonnet-Dupeyron MN, Sourour NA, Arnaud M, Fauvert D, Serre JL, Mornet E for the French Study Group on Hypophosphatasia. Genetic diversity of tissue-nonspecific alkaline phosphatase and the underlying mutations in hypophosphatasia. Hum Mutat. 2000;16(1):1-10. PubMed PMID: 10874306.

  • Mornet E. Hypophosphatasia. Orphanet J Rare Dis. 2007;2:40. PubMed PMID: 17605826; PubMed Central PMCID: PMC1937006.

  • ALPL. In: Online Mendelian Inheritance in Man (OMIM�) [Internet]. Baltimore (MD): Johns Hopkins University; �[updated 2021 Sep 08; cited 2021 Sep 23]. Available from: https://www.omim.org/entry/171760?search=ALPL&highlight=alpl.

  • Testing for ALPL Gene Variants. In: Register of genetic counselors [Internet]. Salt Lake City (UT): University of Utah; �[cited 2021 Sep 23]. Available from: https://geneticcounseling.utah.edu/register/tests/alpl/index.php.

  • Instructions for ALPL gene analysis and related tests. In: Safety and Health at Work [Internet]. Amsterdam: Elsevier; �[cited 2021 Sep 23]. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3929651/.

  • ALPL Gene – Genetics Home Reference. In: PubMed [Internet]. �[cited 2021 Sep 23]. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=ALPL+Gene.

  • Related information on the ALPL gene. In: Sequence Read Archive [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; �[cited 2021 Sep 23]. Available from: https://www.ncbi.nlm.nih.gov/sra/?term=ALPL.