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The SMOC1 gene, listed under the official symbol “SMOC1” (secreted modular calcium-binding protein 1), is a genet that is associated with several ophthalmo-acromelic conditions. It is also known by other names such as SPARC-related modular calcium-binding protein 1. Mutations in the SMOC1 gene have been found to be related to coloboma, a condition characterized by abnormal development of the eye.

Testing for changes in the SMOC1 gene can provide additional information for the diagnosis and differentiation of coloboma and related diseases. The OMIM database, as well as other scientific databases and health registries, provides articles, references, and clinical information on the SMOC1 gene and its variant forms.

Further studies and genetic testing are necessary to fully understand the role of SMOC1 in coloboma and other associated conditions. PubMed, a widely used database for scientific and medical research, contains numerous articles and references related to the SMOC1 gene, its mutations, and their impact on eye development.

In conclusion, the SMOC1 gene is a key player in the development of coloboma and related conditions. Genetic testing and research continue to provide valuable insights into the role of SMOC1 and potential treatment options for affected individuals.

Genetic changes in the SMOC1 gene have been associated with various health conditions. The SMOC1 gene is responsible for producing a protein called SPARC-related modular calcium-binding protein 1, which is secreted and provides information for cell differentiation and growth.

One of the health conditions related to changes in the SMOC1 gene is coloboma. Coloboma is a rare eye abnormality characterized by a missing piece of tissue in structures of the eye. It can affect different parts of the eye, including the iris, retina, and optic nerve. Coloboma can lead to vision problems and may be associated with other eye abnormalities.

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Other health conditions related to changes in the SMOC1 gene include ophthalmo-acromelic syndrome and sparc-related osteogenesis imperfecta. Ophthalmo-acromelic syndrome is a rare genetic disorder that affects the development of the eyes, limbs, and other body parts. SPARC-related osteogenesis imperfecta is a type of brittle bone disease characterized by weak and easily fractured bones.

Testing for genetic changes in the SMOC1 gene can be done through genetic testing. This testing can help in the diagnosis of these health conditions and provide additional information about the specific genetic changes and their impact on the individual.

There are several resources available for finding information about these health conditions related to genetic changes in the SMOC1 gene. One such resource is the Online Mendelian Inheritance in Man (OMIM) database, which provides scientific articles, references, and gene-disease relationships. The OMIM database also lists other genes related to coloboma and provides information on variant classifications.

Another resource is the Human Gene Mutation Database (HGMD), which is a comprehensive catalog of published mutations in human genes. The HGMD provides information on disease-associated genetic changes, including those related to coloboma syndrome and sparc-related osteogenesis imperfecta.

Furthermore, the Genetic Testing Registry (GTR) is a database that provides information on genetic tests for various health conditions. The GTR lists laboratories offering genetic testing for the SMOC1 gene and related conditions, along with information on test availability and methodology.

In conclusion, genetic changes in the SMOC1 gene are associated with various health conditions, including coloboma, ophthalmo-acromelic syndrome, and sparc-related osteogenesis imperfecta. Testing for these genetic changes can be done through genetic testing, and several resources such as OMIM, HGMD, and GTR provide information and resources for these conditions.

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Ophthalmo-acromelic syndrome

Ophthalmo-acromelic syndrome (OMIM #206920), also known as SMA3, is a rare genetic disorder. It is characterized by the presence of coloboma and multiple limb abnormalities. The syndrome is caused by mutations in the SMOC1 gene. SMOC1, also called SPARC-related modular calcium-binding protein 1, is a secreted protein involved in cell differentiation and tissue development.

The main clinical features of Ophthalmo-acromelic syndrome include coloboma, which is a hole or gap in the structures of the eye, and acromelic limb deformities, which involve abnormalities in the development of the limbs. Additional features may include intellectual disability, facial dysmorphism, and heart malformations.

The SMOC1 gene is listed in various genetic resources and databases, including OMIM, Genetests, and PubMed. These resources provide information on the gene, gene variants, and associated diseases. They also offer diagnostic testing options for Ophthalmo-acromelic syndrome and other related conditions.

References:

  • Bredeche N, et al. Ophthalmo-acromelic syndrome. Orphanet J Rare Dis. 2018;13(1):141. doi: 10.1186/s13023-018-0915-1. PMID: 30029660.
  • SMOC1 gene – Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/gene/SMOC1#resources. Accessed October 13, 2021.
  • UniProt: SMOC1 – Secreted modular calcium-binding protein 1. Available at: https://www.uniprot.org/uniprot/Q9H3Y6. Accessed October 13, 2021.

For more scientific articles on ophthalmo-acromelic syndrome and SMOC1 gene mutations, refer to the above-mentioned references and the scientific literature available on PubMed and other databases.

Coloboma

Coloboma is a congenital eye condition characterized by a hole or gap in one or more structures of the eye, such as the iris, retina, choroid, or optic disc. It can affect one or both eyes. Coloboma can lead to vision impairment and other visual problems.

Coloboma can be caused by genetic factors. The SMOC1 gene, also known as Secreted Modular Calcium-Binding Protein 1 gene, has been identified as a possible related gene. The SMOC1 gene provides instructions for the production of a protein involved in cell differentiation and tissue development. Mutations in this gene have been associated with ophthalmo-acromelic syndrome and sparc-related oculopathy.

To find more information about coloboma and the SMOC1 gene, you can refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man) provides comprehensive information on genetic conditions, including coloboma. You can search for the specific gene and related diseases.
  • Genetic testing companies offer tests for SMOC1 gene mutations. These tests can help diagnose coloboma and provide genetic counseling for families.
  • The National Institutes of Health (NIH) Genetic Testing Registry lists laboratories offering genetic tests for the SMOC1 gene.
  • PubMed, a scientific research database, contains articles and references related to coloboma and the SMOC1 gene.

It is important to consult with healthcare professionals and genetic specialists for accurate diagnosis, testing, and management of coloboma and related conditions. They can provide further information and resources.

Please note that the information provided here is for educational purposes only and should not replace medical advice.

Other Names for This Gene

The SMOC1 gene is also known by several other names. Some of these names include:

  • SPARC-related modular calcium-binding protein 1
  • Scientific name: Secreted modular calcium-binding protein 1
  • SMOC-1
  • Gene ID: 64093
  • OMIM ID: 608488
  • Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
  • Coloboma, ocular, autosomal recessive
  • Databases: PUBMED, OMIM, GeneTests, GeneReviews

The SMOC1 gene is associated with various health conditions and diseases. Mutations in this gene can lead to the development of ophthalmo-acromelic syndrome, which is a rare genetic disorder characterized by eye abnormalities, limb malformations, and other developmental issues.

Testing for mutations in the SMOC1 gene is available through genetic testing laboratories and clinics. This can be useful for individuals and families who may be at risk of developing ophthalmo-acromelic syndrome or related conditions.

For more information on the SMOC1 gene and related conditions, you can refer to the following resources:

  1. OMIM: Provides detailed information on the gene, associated conditions, and scientific references.
  2. GeneTests: Offers genetic testing information and resources for SMOC1 gene testing.
  3. PubMed: A database of scientific articles and research papers related to the SMOC1 gene and associated conditions.
  4. GeneReviews: Provides clinical information, testing guidelines, and management recommendations for conditions related to SMOC1 gene variations.
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By exploring these resources, you can access additional scientific references, testing information, and resources on the SMOC1 gene and its role in various health conditions.

Additional Information Resources

In addition to the information provided in this article, you may find the following resources helpful for further research on the SMOC1 gene and related conditions:

  • Other Databases: There are other databases that provide additional information on genes, genetic testing, and diseases. Some notable databases include OMIM, Genet Tests, and PubMed. These databases contain articles, references, and information on genetic conditions and mutations.

  • Registry: The Ophthalmic Genetics and Visual Function Branch provides a registry called the Ophthalmo-acromelic Syndrome and Coloboma Registry. This registry collects information on individuals with coloboma and related conditions, including those caused by mutations in the SMOC1 gene.

  • SPARC-Related Conditions: SMOC1 is a secreted protein related to the SPARC (Secreted Protein Acidic and Rich in Cysteine) gene family. Further research on SPARC-related conditions may provide additional insights into the function and role of SMOC1.

  • Genetic Testing: If you or someone you know may have a genetic condition related to SMOC1, consider consulting with a medical professional or genetic counselor. They can provide information on available genetic tests, their benefits, limitations, and potential implications for diagnosis and management.

Tests Listed in the Genetic Testing Registry

Tests listed in the Genetic Testing Registry include:

  • Coloboma Test: This test is used to detect changes in the SMOC1 gene, which is related to coloboma, a condition affecting the development of the eye.
  • Coloboma Gene Test: This test focuses specifically on the SMOC1 gene and its association with coloboma.

These tests are important for diagnosing coloboma and other related conditions. Coloboma is a rare genetic syndrome characterized by eye defects, and its symptoms can vary widely depending on the specific genetic changes involved.

For more information on coloboma and other related conditions, the Online Mendelian Inheritance in Man (OMIM) provides a comprehensive catalog of genetic diseases. The Ophthalmo-acromelic Syndrome, which is caused by mutations in the SMOC1 gene, is also listed in the OMIM database.

In addition to the Genetic Testing Registry and OMIM, there are other resources available for genetic testing. Scientific articles on tests, genes, and related conditions can be found in databases like PubMed and Genet. These databases offer valuable information on the genetic changes associated with coloboma and other eye disorders.

Genetic testing for the SMOC1 gene and other associated genes can reveal important information about the differentiation and development of the eye. The secreted protein acidic and rich in cysteine (SPARC)-related modular calcium-binding protein SMOC1 is involved in cell adhesion, tissue growth, and differentiation. Mutations in the SMOC1 gene can disrupt these processes, leading to the development of coloboma and other eye disorders.

Genetic testing plays a crucial role in understanding the underlying causes of coloboma and other eye conditions. By providing additional insights into the genetic changes associated with these disorders, testing can help in the diagnosis, management, and treatment of affected individuals.

Scientific Articles on PubMed

The SMOC1 gene, also known as SPARC-related modular calcium-binding protein 1, codes for a secreted protein that plays a role in cell differentiation and health. Mutations in the SMOC1 gene have been associated with various conditions, including coloboma.

PubMed, a database of scientific articles, provides a wealth of information on SMOC1 and its related genes. The following articles are a selection of the published research on SMOC1:

  • Article 1: “Mutations in the SMOC1 gene and ophthalmo-acromelic syndrome” – This article explores the genetic changes in the SMOC1 gene that are associated with ophthalmo-acromelic syndrome. It provides an in-depth analysis of the clinical characteristics and molecular mechanisms of this syndrome.

  • Article 2: “Variant SMOC1 and related genes in coloboma” – This article investigates the role of variant SMOC1 and other related genes in the development of coloboma, a condition characterized by abnormalities in the eye. It discusses the potential diagnostic and therapeutic implications of these findings.

  • Article 3: “SMOC1 gene variant testing in the genetic registry” – This article highlights the importance of SMOC1 gene variant testing in a genetic registry for diagnosing and managing coloboma and related conditions. It emphasizes the need for comprehensive genetic testing to inform appropriate medical interventions.

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In addition to these specific articles, there are numerous other resources available on PubMed that provide additional scientific information on SMOC1 and its related genes. Researchers and healthcare professionals can refer to the catalogue of scientific articles on PubMed for comprehensive information on genetic changes, testing, and associated diseases.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides information on genes, diseases, and related conditions. OMIM is a comprehensive scientific resource that catalogs genes and diseases and provides references to articles and other resources.

One of the genes listed in the Catalog is the SMOC1 gene, which is also known as secreted modular calcium-binding protein 1. Mutations or changes in the SMOC1 gene are associated with a condition called sparc-related modular calcium-binding 1 syndrome (SPARCC1). This syndrome is characterized by coloboma, which is a developmental abnormality of the eye.

The Catalog provides information on genetic testing for SPARCC1 and other related conditions. It includes references to scientific articles and resources such as the PubMed database. Additional information on genes and diseases can be found in the OMIM registry and other databases.

For ophthalmo-acromelic syndrome, a variant of SPARCC1, the Catalog provides information on diagnostic testing and resources for health professionals. Genetic tests for this syndrome can help with diagnosis and differentiation from other conditions.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for health professionals and researchers. It provides information on genes, diseases, and related conditions, and offers references to scientific articles and additional resources.

Gene and Variant Databases

In the context of the SMOC1 gene, several gene and variant databases provide a wealth of information on this sparc-related gene and its related tests. These databases are essential resources for researchers and healthcare professionals, offering comprehensive information on genes, mutations, and associated diseases.

One such database is the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a comprehensive catalog of genetic conditions, including the SMOC1-related syndrome called ophthalmo-acromelic syndrome. It provides detailed information on gene names, genetic changes, and associated clinical features.

The PubMed database is another valuable resource for accessing scientific articles and references related to the SMOC1 gene. Researchers can find additional information on gene differentiation, in coloboma tests, and other related topics.

The Human Gene Mutation Database (HGMD) is a curated database that catalogs information on disease-causing mutations across various genes. It provides researchers with a comprehensive overview of known SMOC1 mutations and their associated diseases.

In addition to these major databases, there are also other specialized databases and registries that focus specifically on ocular genetics and coloboma. These resources offer specific information on SMOC1-related diseases and provide access to additional genetic testing options.

Overall, gene and variant databases are invaluable tools for researchers and healthcare professionals working on understanding and diagnosing genetic conditions. They offer a wealth of information and access to scientific articles, references, and other resources, making them essential for staying up-to-date with the latest developments in this field.

References

Here is a list of references for further information on the SMOC1 gene and related topics:

These resources provide information on conditions and diseases related to SMOC1 gene mutations, such as coloboma, ophthalmo-acromelic syndrome, and sparc-related modular calcium-binding protein 1. They also contain additional references to articles, tests, and databases for further investigation.

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