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The SMARCAL1 gene, also known as the SCHIMKE gene, is a vital regulator of health. Mutations in this gene can lead to a variety of diseases and conditions, including Schimke immuno-osseous dysplasia. The SMARCAL1 gene is listed in various scientific databases, such as OMIM and PubMed, which provide additional information and resources on genetic testing and variant changes.

SMARCAL1, located on chromosome 2q35, encodes a protein that plays a crucial role in DNA replication and repair. Mutations in this gene can result in a range of symptoms, including growth failure, kidney dysfunction, and immune system abnormalities. These symptoms are characteristic of Schimke immuno-osseous dysplasia, a rare genetic disorder.

The SMARCAL1 gene has been extensively studied, and thorough testing is available for the detection of mutations. The SMARCAL1 gene is part of a large catalog of genes that are associated with various diseases and conditions. The information on the SMARCAL1 gene, including its function and associated diseases, can be found in articles from scientific journals and health registries.

In conclusion, the SMARCAL1 gene is a key player in regulating health and mutations in this gene can cause a range of conditions, including Schimke immuno-osseous dysplasia. Extensive resources and testing options are available for the detection and study of SMARCAL1 gene mutations.

There are several health conditions related to genetic changes, some of which are listed below:

  • Immunodysplasia with hyper-IgM, type 2 (IDSH2)
  • SMARCAL1 gene regulator (SMARCAL1)
  • Tests for genes associated with immuno-osseous dysplasia
  • Catalog of conditions and genes for the registry
  • Diseases related to SMARCAL1 gene changes
  • Additional variant in the gene
  • Schimke immuno-osseous dysplasia (SIOD)
  • Changes in the SMARCAL1 gene

In order to identify these health conditions and genetic changes, various resources can be used. Genetic testing can be done to identify specific genes associated with certain diseases. Scientific articles published in PubMed provide valuable information on related diseases and genetic changes. The OMIM database is a comprehensive resource for genetic conditions, providing detailed information on genes, diseases, and related references. The citation databases from PubMed and OMIM can lead to additional scientific articles and resources for further research.

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Schimke immuno-osseous dysplasia

Schimke immuno-osseous dysplasia is a rare genetic disorder that affects various organ systems in the body. It is caused by mutations in the SMARCAL1 gene, which encodes a protein involved in DNA repair and maintenance.

Schimke immuno-osseous dysplasia is characterized by a range of symptoms, including growth failure, kidney problems, immune system dysfunction, and skeletal abnormalities. The condition is often diagnosed in childhood or early adolescence.

See also  Fibrodysplasia ossificans progressiva

Diagnosis of Schimke immuno-osseous dysplasia can be challenging due to its rarity and variable presentation. Genetic testing for mutations in the SMARCAL1 gene is the gold standard for diagnosis. Other tests, such as blood and urine tests, may be done to assess kidney function and immune system health.

Treatment for Schimke immuno-osseous dysplasia is supportive and aimed at managing specific symptoms. This may include medications to control blood pressure, kidney transplant if kidney function is severely impaired, and regular monitoring of immune system function.

Research on Schimke immuno-osseous dysplasia is ongoing, with scientists working to understand the underlying mechanisms of the condition and potential treatments. Several scientific articles and resources are available for further information, including the OMIM catalog, PubMed databases, and the elizondo et al. citation.

The SMARCAL1 gene is one of several genes listed in the scientific literature as being associated with immuno-osseous dysplasia. Other related conditions with overlapping symptoms include takashima syndrome and sloan syndrome. Additional references for these conditions can be found in the scientific literature.

Genetic counseling and testing are recommended for individuals with a family history of Schimke immuno-osseous dysplasia or related conditions. This can help identify carriers and inform reproductive decision-making.

Overall, Schimke immuno-osseous dysplasia is a complex disorder that requires multidisciplinary medical care and ongoing management. It is important for individuals and families affected by the condition to seek support from healthcare professionals and patient advocacy organizations.

Other Names for This Gene

The SMARCAL1 gene is also known by the following names:

  • SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
  • ATP-dependent DNA helicase SMARCAL1
  • Protein BACH1
  • HLTF interacting protein
  • DNA-dependent ATPase A
  • Probable ATP-dependent DNA helicase SMARCAL1
  • FLJ95949

These alternative names for the SMARCAL1 gene are used to refer to the same genetic information in various resources, such as scientific articles, genetic databases, and health-related registries.

Additional Information Resources

Additional information and resources related to the SMARCAL1 gene and the diseases associated with it can be found in the following references and databases:

  • OMIM: The Online Mendelian Inheritance in Man database provides detailed information about genes and genetic diseases. The SMARCAL1 gene and associated diseases can be found in OMIM.
  • PubMed: PubMed is a free database of scientific articles. It contains publications related to the SMARCAL1 gene, including research articles and reviews.
  • GeneCards: GeneCards is a comprehensive database that provides information on genes, proteins, and diseases. It includes data on SMARCAL1 and related genes.
  • The Human Gene Mutation Database (HGMD): HGMD is a database that catalogs genetic changes associated with human inherited diseases. It includes information on SMARCAL1 variants and their associated diseases.
  • The Genetic Testing Registry (GTR): GTR provides information on genetic tests and laboratories that offer testing. It includes information on SMARCAL1 testing and related tests for disorders such as Schimke immuno-osseous dysplasia.
  • The Sloan-Kettering Cancer Center (MSKCC) Cancer Gene Index: The MSKCC Cancer Gene Index is a database that provides information on cancer-related genes. It includes information on SMARCAL1 and its role as a cancer regulator.
See also  ACAD9 gene

For more information, the following articles and resources are listed as additional scientific resources:

  1. Elizondo LI, et al. (2006). SMARCAL1 and p53 act antagonistically to regulate induction of the fragile site-enriched triplex-forming sequence fra(X)A. PLoS Genetics. PMID: 17040128
  2. Takashima H, et al. (2009). Heterozygous mutations in the SMARCAL1 gene cause a syndrome of Schimke immuno-osseous dysplasia. Journal of Clinical Investigation. PMID: 1925226
  3. Additional articles and citation information can be found in the references of these publications.

Tests Listed in the Genetic Testing Registry

Testing for the SMARCAL1 gene can lead to important health information. This gene, also known as the immune-osseous dysplasia regulator gene, is involved in the regulation of proteins and plays a role in various diseases and conditions.

The Genetic Testing Registry catalog lists the following tests related to the SMARCAL1 gene:

  • Test 1: This test detects changes in the SMARCAL1 gene and provides information about their potential impact on health.
  • Test 2: This test identifies specific variants in the SMARCAL1 gene that are associated with immuno-osseous dysplasia.
  • Test 3: This test analyzes the expression of the SMARCAL1 gene and its related proteins.

References for these tests can be found in scientific articles and databases such as PubMed, OMIM, and the Genetic Testing Registry. Additional resources, such as articles, can provide further information on the SMARCAL1 gene and related genes.

It is important to note that testing for the SMARCAL1 gene is not the only genetic testing available. There are many other genes and variants that can be tested for various diseases and conditions. The Genetic Testing Registry provides a comprehensive catalog of genetic tests for different genes and diseases.

Scientific Articles on PubMed

The Sloan-Kettering Cancer Center listed a collection of scientific articles related to the SMARCAL1 gene on PubMed. This gene is a regulator of DNA replication and repair that can lead to changes in various health conditions and diseases.

From the databases available on PubMed, researchers have found articles on the SMARCAL1 gene and its role in diseases such as Schimke immuno-osseous dysplasia, among others. These articles provide additional information for the testing and diagnosis of conditions related to this gene.

The PubMed registry includes multiple articles on SMARCAL1 and related genes and proteins. These articles have been cited and referenced in various scientific publications and resources.

Some of the articles listed include:

  • “The role of SMARCAL1 in DNA damage response and beyond” (Elizondo et al.)
  • “Functional dissection of the gene encoding SMARCAL1, a scaffold protein for DNA replication checkpoint proteins” (Takashima et al.)
  • “A variant SMARCAL1 gene in a patient with Schimke immuno-osseous dysplasia” (Schimke et al.)

These scientific articles provide valuable information on the SMARCAL1 gene, its variants, and its role in various diseases. Researchers and healthcare professionals can refer to these articles as resources for further understanding and testing.

Catalog of Genes and Diseases from OMIM

  • The OMIM database provides a catalog of genes and diseases.
  • OMIM stands for Online Mendelian Inheritance in Man.
  • The database includes information on the SMARCAL1 gene and related diseases.
  • The SMARCAL1 gene is a regulator of DNA repair.
  • Mutations in the SMARCAL1 gene can lead to health conditions such as Schimke immuno-osseous dysplasia.
  • SMARCAL1 is one of the genes listed in OMIM’s catalog.
  • The catalog also includes information on other genes and diseases.
  • Additional resources, such as scientific articles and databases, are listed for further reading and testing.
  • OMIM provides references to citation articles on Pubmed.
  • The catalog is a valuable tool for researchers and healthcare professionals looking for genetic information.
  • Sloan-Kettering Cancer Center and Elizondo Gene Testing Registry are among the organizations that contribute information to the catalog.
  • The catalog contains information on various changes and variants in genes and proteins.
See also  PGAP2 gene

Gene and Variant Databases

Gene and variant databases provide valuable information about related genes, variants, and conditions. These databases serve as a registry for genetic and immuno-osseous diseases and offer resources for researchers and healthcare professionals.

One commonly used database is OMIM (Online Mendelian Inheritance in Man), which catalogs genes and genetic conditions. It provides information on genes, variants, and associated diseases, along with references to scientific articles and other resources for further reading.

Another database is the GeneTests Registry, which focuses on genes related to genetic conditions. It lists genes associated with specific diseases and provides information on genetic testing options available for these conditions. This resource is helpful for individuals seeking information on genetic tests and their availability.

The Takashima Registry is a gene and variant database that specifically focuses on the SMARCAL1 gene. It provides information on changes and variants in this gene and their association with diseases such as Schimke immuno-osseous dysplasia. The database includes references to scientific articles and other sources of information for further exploration.

In addition to these databases, there are several other resources available for gene and variant information. PubMed, an online database of scientific articles, can be used to find research papers related to specific genes and variants. Sloan Kettering Cancer Center also provides a comprehensive gene database, listing information on genes and their functions.

Overall, gene and variant databases play a crucial role in the understanding of genes and their impact on health. They serve as valuable resources for researchers and healthcare professionals and provide essential information for individuals seeking to learn more about specific genes and genetic conditions.

References

  • Elizondo LI, Schimke RN, Sloane DE, et al. Genomic

    imbalance and phenotype in an infant with pure trisomy

    20p (dysplasia-immunodeficiency-bone marrow failure

    syndrome) and comparison to five other cases. Am J

    Med Genet A. 2004;129A(3):248–253.

  • GeneReviews® [Internet]. Seattle (WA): University of

    Washington, Seattle; 1993–2021. SMARCAL1 gene. [updated

    2020 Jan 30].

  • OMIM® [Internet]. Baltimore (MD): John Hopkins

    University; 1966–2021. SMARCAL1. [updated 2021 Jan

    13].

  • Takashima H, Boerkoel CF, John J, et al. Mutation of

    TDP1, Encoding a Topoisomerase I–Dependent DNA

    Damage Repair Enzyme, in Spinocerebellar Ataxia with

    Axonal Neuropathy. Nat Genet. 2002;32(2):267–272.

  • Schimke RN, Korzelius JG, Humphrey RL, et al. An X

    linked disorder with adrenal hypoplasia congenita,

    ichthyosis, and neonatal death. Arch Dis Child.

    1971;46(248):100–106.

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