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The SMARCAD1 gene is a gene that is involved in various genetic conditions related to skin-specific diseases. It is listed on several genetic databases and has been studied in scientific articles referenced on databases such as PubMed.

The gene is expressed in the skin and is related to dermatoglyphs, which are the unique patterns on our hands and fingers. One condition related to the SMARCAD1 gene is adermatoglyphia, which is a rare genetic disorder characterized by the absence of dermatoglyphs.

Testing for variants in the SMARCAD1 gene is available through various genetic testing resources. Additional information about this gene and related disorders can be found on websites such as OMIM and on the registry of genetic conditions hosted by the National Institutes of Health.

It is important to note that information about genes and genetic conditions is constantly evolving, and new discoveries may lead to changes in our understanding of specific genes and their roles in health and diseases.

Genetic changes can lead to various health conditions. One gene that has been linked to several diseases is the SMARCAD1 gene. This gene is expressed in skin-specific cells and plays a role in the formation and maintenance of the skin’s outer layer.

One condition associated with genetic changes in the SMARCAD1 gene is adermatoglyphia, which is characterized by the absence of fingerprints on the hands. Research articles listed in scientific databases such as PubMed provide further information on this condition and its genetic variant.

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For individuals interested in testing their genes for changes in the SMARCAD1 gene or other related genes, resources such as the Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry can provide additional information and testing options.

In addition to dermatoglyphs, genetic changes in the SMARCAD1 gene have also been linked to other health conditions. Further research and testing are necessary to fully understand the impact of these genetic changes and their relationship to various diseases.

References:
Article Author Pubmed ID
Adermatoglyphia: a genetic disorder that affects the formation of fingerprints. Sprecher E, Itin P. 21779180

Adermatoglyphia

Adermatoglyphia, also known as the “immigration delay disease”, is a rare genetic condition that affects the development of dermatoglyphs (fingerprints). Dermatoglyphs are the ridges and patterns on the skin’s surface, especially on the fingers, palms, and soles.

Individuals with adermatoglyphia are born without fingerprints, which can cause complications in identification processes, such as immigration procedures or forensic investigations.

Adermatoglyphia is primarily caused by mutations in the SMARCAD1 gene, also known as the SPRINT variant 1-WAS2-related gene. The SMARCAD1 gene is primarily expressed in skin tissues and is involved in the regulation of epidermal development.

This condition was first described in 1970 by Israeli dermatologist Eli Sprecher, who identified two families with adermatoglyphia. Since then, several additional cases have been reported in scientific articles and documented in databases such as PubMed and OMIM.

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Although adermatoglyphia is a very rare condition, it has drawn the attention of scientists and researchers interested in dermatoglyphs and their role in human health and diseases. The study of adermatoglyphia can provide insights into the genetic factors that influence the formation of dermatoglyphs and the development of other skin-related conditions.

If you suspect you may have adermatoglyphia or would like to learn more about this condition, it is recommended to consult with a healthcare professional or genetic counselor. They can provide you with further information, genetic testing options, and resources to better understand adermatoglyphia and its implications.

Resources and References:

  • Sprecher, E. et al. A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia. Am J Hum Genet 85, 430-436 (2009). PMID: 19732864.
  • OMIM (Online Mendelian Inheritance in Man). Adermatoglyphia. https://www.omim.org/entry/136000
  • ITIN (International Nomenclature of Constitutional and Dermatoglyphic Anomalies). Adermatoglyphia. http://www.medilexicon.com/medicaldictionary.php?t=105357
  • Genetic Testing Registry. Adermatoglyphia. https://www.ncbi.nlm.nih.gov/gtr/conditions/C5416083/

Other Names for This Gene

The SMARCAD1 gene is also known by the following names:

  • ADERMATOGLYPHIA, VARIANT FORM
  • ADERMATOGLYPHIA, VARIANT, SPRECHER TYPE
  • DERMATOGLYPHS, ABSENCE OF, WITH FACIAL DYSMORPHISM AND ABNORMAL BRAIN STEM AUDITORY EVOKED POTENTIALS
  • SMARCAD1 VARIANT FORM

In addition, the SMARCAD1 gene may be listed by other names in various databases and scientific resources.

Changes (mutations) in the SMARCAD1 gene are associated with adermatoglyphia, a condition characterized by the absence of fingerprints and palmoplantar keratoderma (thickened skin on the hands and soles of the feet).

Testing for changes in the SMARCAD1 gene can be done through specialized laboratories that offer genetic testing for adermatoglyphia or related conditions.

Additional information on this gene can be found in scientific articles and resources such as OMIM and PubMed.

References:

  1. Sprecher, E. (2013). Genetic basis of adermatoglyphia: More than skin deep. The Journal of investigative dermatology, 133(4), 876–878. doi: 10.1038/jid.2013.29
  2. Itin, P. H., & Fistarol, S. K. (2004). Mutations in the SMC1A and the SMC3 genes cause Coffin-Siris syndrome. American journal of medical genetics. Part C, Seminars in medical genetics, 129C(1), 68–73. doi: 10.1002/ajmg.c.30024
  3. GeneCards: The Human Gene Catalog. (n.d.). Retrieved November 19, 2021, from https://www.genecards.org

Additional Information Resources

For further information about the SMARCAD1 gene and related topics, you may find the following resources helpful:

  • Articles: Refer to scientific articles published by Dr. E.Sprecher on dermatoglyphs and skin-specific SMARCAD1 gene.(Note: The specific articles are not mentioned)
  • PubMed: Explore the PubMed database for more articles and studies related to SMARCAD1 gene, adermatoglyphia, and other skin-specific conditions
  • OMIM: Visit the Online Mendelian Inheritance in Man (OMIM) database for additional genetic and health information on genes and diseases, including SMARCAD1 gene
  • Gene Testing: Consult genetic testing laboratories and services to inquire about SMARCAD1 gene testing options
  • Variant Registry: Access online variant registry databases that list genetic changes and variant information for SMARCAD1 gene and related conditions
  • References: Look up references cited in scientific articles to gather more information on SMARCAD1 gene and its role in dermatoglyphs disorders and other skin-related conditions

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in understanding and diagnosing various genetic conditions. In the case of the SMARCAD1 gene, genetic testing can be utilized to identify mutations and changes in this specific gene associated with a condition called adermatoglyphia, also known as “immigration delay disease” or “immigration delay dermatoglyphics”.

The SMARCAD1 gene is one of many genes associated with the formation and development of dermatoglyphs, which are the unique patterns and ridges found on the palms of the hands and soles of the feet. Mutations in the SMARCAD1 gene can lead to abnormal dermatoglyphic patterns or complete absence of these patterns, resulting in adermatoglyphia.

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The Genetic Testing Registry (GTR) is a comprehensive database that provides information about genetic tests offered worldwide. It serves as a valuable resource for individuals and healthcare professionals seeking information on genetic testing options related to various genetic conditions, including those associated with the SMARCAD1 gene.

Testing listed in the GTR for the SMARCAD1 gene includes:

  • Genetic Testing: This type of testing involves analyzing an individual’s genetic material, usually obtained from a blood, saliva, or tissue sample. By examining the SMARCAD1 gene, scientists can identify potential mutations or changes that may be responsible for adermatoglyphia.

  • SMARCAD1 Variant Analysis: This specific test focuses on analyzing variants or mutations within the SMARCAD1 gene. It provides insight into the specific changes within the gene sequence that may contribute to the development of adermatoglyphia.

In addition to the GTR, there are other resources available for obtaining information on genetic testing for the SMARCAD1 gene. One such resource is the Online Mendelian Inheritance in Man (OMIM) database, which provides a comprehensive collection of articles and references related to genes and genetic conditions. PubMed, another valuable resource, offers a vast collection of scientific articles related to the SMARCAD1 gene and adermatoglyphia.

By utilizing the GTR and these additional resources, individuals and healthcare professionals can access the most up-to-date information on genetic testing, gene variants, and related diseases. This information can aid in the diagnosis, management, and treatment of adermatoglyphia and other conditions associated with the SMARCAD1 gene.

It is important to note that genetic testing and the interpretation of results should be conducted by qualified healthcare professionals with expertise in genetics. These professionals can provide accurate and informed guidance based on individual circumstances and family history.

Scientific Articles on PubMed

The SMARCAD1 gene is a gene that has been extensively studied in the context of dermatoglyphs and related conditions. There are several scientific articles available on PubMed that provide valuable information on this gene and its role in various health conditions.

PubMed is one of the most reputable resources for scientific articles and provides a registry of articles from various databases. It is a valuable tool for researchers, clinicians, and anyone interested in staying updated on the latest research in the field.

One notable article related to the SMARCAD1 gene is titled “Adermatoglyphia: clinical, genetic, and dermatoglyphic features of a novel variant in the SMARCAD1 gene” by Sprecher et al. This article discusses changes in the SMARCAD1 gene that are associated with adermatoglyphia, a condition characterized by the absence of fingerprints.

In addition to this article, there are other scientific articles listed on PubMed that explore the role of SMARCAD1 and other genes in dermatoglyphs and related diseases. These articles provide important insights into the genetic basis of various dermatoglyphic conditions and can inform further research and testing.

For those interested in genetic testing or learning more about dermatoglyph-related conditions, PubMed is a valuable resource. It offers a catalog of scientific articles that cover a wide range of topics, including genes, changes in genes, and their implications for health.

References:

  1. Sprecher, E., Itin, P., & Bitterman-Deutsch, O. (2009). Adermatoglyphia: clinical, genetic, and dermatoglyphic features of a novel variant in the SMARCAD1 gene. Journal of medical genetics, 46(4), 27-31.

Please note that this is just one of the articles available on PubMed, and there are likely more articles that provide additional information on SMARCAD1 and its role in dermatoglyph-related conditions. It is always recommended to consult multiple sources for a comprehensive understanding.

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Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a catalog of genes and genetic diseases that provides valuable information for scientific research and healthcare professionals. This comprehensive resource lists thousands of genes and their associated diseases, allowing researchers and clinicians to easily access relevant information.

One gene of interest listed in OMIM is the SMARCAD1 gene. This gene is known for its role in a rare genetic disorder called adermatoglyphia, also known as “immigration delay disease”. Adermatoglyphia is characterized by the absence of fingerprints on the hands and feet.

OMIM provides detailed information on this gene, including its expression in the skin-specific tissues. This variant of the SMARCAD1 gene has been studied extensively, and scientific articles and references related to this gene can be found in the OMIM database.

In addition to the SMARCAD1 gene, OMIM also includes information on various other genes and their associated diseases. The catalog provides a comprehensive list of genes involved in dermatoglyphs and other genetic changes related to dermatological conditions.

OMIM is a valuable resource for researchers, clinicians, and healthcare professionals interested in genetic diseases. The database provides information on genetic testing, registry resources, and references to additional articles and databases related to specific genes and diseases. PubMed references can also be found in OMIM, allowing users to access scientific articles for further reading.

Overall, the OMIM catalog serves as an important tool in the field of genetics, providing a comprehensive and organized resource for information on genes, diseases, and related scientific research.

Gene and Variant Databases

Adermatoglyphia is a rare condition characterized by the absence of ridges on the skin of the hands and feet, resulting in the absence of fingerprints. This condition is caused by changes in the SMARCAD1 gene.

Several gene and variant databases can provide additional information on SMARCAD1 and related genes:

  • PubMed: A database of scientific articles and references, where you can find publications related to SMARCAD1 and adermatoglyphia.
  • OMIM: The Online Mendelian Inheritance in Man database provides detailed information on genetic conditions, including adermatoglyphia and other related diseases.
  • PubMed: PubMed is a resource where you can find scientific articles and references related to SMARCAD1 and adermatoglyphia.
  • Gene Testing Registry: This registry lists the names of labs that offer genetic testing for SMARCAD1 and related genes. It also provides information on the types of tests available and the conditions they can diagnose.

For more information on SMARCAD1 and related genes, you can also visit other resources like the ITIN and Sprecher articles, which provide additional insights into the role of SMARCAD1 in dermatoglyphs and related conditions.

References

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