Adermatoglyphia

Published Categorized as Genetics
Adermatoglyphia

Adermatoglyphia, also known as “immigration delay disease” or “Nagoya type palmoplantar keratoderma,” is an extremely rare genetic disorder characterized by the absence of fingerprints. This condition, first identified in 2007 by Eli Sprecher, affects the development of the skin-specific ridges on the palms and soles of affected individuals. The frequency of adermatoglyphia is estimated to be less than 0.01% in the general population.

The name “adermatoglyphia” derives from the Greek words “a-” meaning “without,” “derma” meaning “skin,” and “glyphein” meaning “carve.” The condition has been associated with mutations in the SMARCAD1 gene, located on chromosome 12q14.3. This gene encodes a protein involved in the development and maintenance of skin ridges. Mutations in SMARCAD1 interfere with the normal formation of these ridges, resulting in the absence of fingerprints.

One of the primary resources for information on adermatoglyphia is the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides a comprehensive database of genetic traits, disorders, and associated genes. This catalog includes references to scientific articles, patient reports, and other relevant resources for further research and understanding of adermatoglyphia.

While adermatoglyphia is the most well-known and studied cause of fingerprint absence, there are other genetic conditions and syndromes associated with similar dermatoglyphic abnormalities. These conditions are often inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene is required for the condition to manifest. In some cases, adermatoglyphia can also be inherited in an autosomal recessive manner, requiring both copies of the gene to be mutated for the condition to occur.

Although adermatoglyphia is a rare condition, its study and understanding have important implications for the fields of genetics and dermatology. The absence of fingerprints can have practical implications, such as difficulties with fingerprint-based identification systems. Additionally, adermatoglyphia provides valuable insights into the complex processes involved in the development of skin ridges and their importance in human physiology.

For individuals affected by adermatoglyphia, access to accurate information, supportive communities, and advocacy resources is crucial. Organizations such as the Adermatoglyphia Advocacy Center provide a platform for sharing experiences, connecting with others affected by the condition, and accessing the latest research and medical advancements. Furthermore, raising awareness about adermatoglyphia can lead to earlier diagnosis and support for affected individuals.

In conclusion, adermatoglyphia is a rare genetic condition characterized by the absence of fingerprints. This unique condition has been associated with mutations in the SMARCAD1 gene, among others. Understanding the genetic and physiological causes of adermatoglyphia is essential for developing effective treatments and support strategies for affected individuals.

Frequency

Adermatoglyphia is an extremely rare condition, with only a few cases reported in scientific literature. It is associated with a mutation in the SMARCAD1 gene, which is responsible for encoding a protein called zinc-finger domain-containing protein. This gene has been identified as the cause of adermatoglyphia in affected individuals.

The inheritance pattern of adermatoglyphia is not fully understood, but it appears to be an autosomal dominant trait. This means that a person with one copy of the abnormal gene is affected by the condition. However, the signs and symptoms can vary widely between affected individuals, and in some cases, there may be no symptoms at all.

Due to the rarity of adermatoglyphia, there is limited information available about its frequency in the population. The exact prevalence is unknown, but it is considered a very rare condition. Adermatoglyphia has been documented in a few families worldwide.

To learn more about adermatoglyphia, you can refer to the following resources:

  1. The Online Mendelian Inheritance in Man (OMIM) catalog provides additional information about the condition.
  2. The PubMed database contains scientific articles and references on adermatoglyphia. You can search for relevant articles by using the keywords “adermatoglyphia” or “adermatoglyphia genetics” on PubMed.
  3. Support and advocacy groups for rare diseases may also have more information about adermatoglyphia.

With the advancement of genetic research, more genes and skin-specific mutations associated with adermatoglyphia are being identified. These discoveries are providing researchers with a better understanding of the causes and inheritance patterns of this condition.

Causes

Adermatoglyphia, also known as the “immigration delay disease” or “immigration delay syndrome,” is a rare condition caused by genetic mutations. It was first identified in 2007 by Eli Sprecher et al., who named it “adermatoglyphia” due to its characteristic absence of fingerprints.

Researchers have since identified additional genes associated with this condition through scientific articles cataloged on OMIM (Online Mendelian Inheritance in Man) and PubMed, as well as references in patient databases and advocacy resources.

Genes such as SMARCAD1, SCYL1BP1, and WNT7A have been found to be associated with adermatoglyphia. However, these genes are also known to be involved in other rare diseases, which can make it challenging to pinpoint adermatoglyphia as the cause of specific symptoms.

More information about the frequency of these genes and their association with adermatoglyphia can be found in the scientific articles identified on PubMed and OMIM. The OMIM database in particular is a valuable resource for learning about genes and their associated diseases.

The Adermatoglyphia Center, established by Eli Sprecher, provides support, resources, and advocacy for individuals affected by this condition. They have compiled a catalog of skin-specific resources and scientific articles related to adermatoglyphia, which can be accessed for further information.

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Potential Causes of Adermatoglyphia
Gene PubMed References
SMARCAD1 10
SCYL1BP1 5
WNT7A 7

– This table provides a summary of the three genes that have been identified as potential causes of adermatoglyphia, along with the number of PubMed references associated with each gene.

In conclusion, adermatoglyphia is a rare condition caused by genetic mutations in genes such as SMARCAD1, SCYL1BP1, and WNT7A. However, further research is needed to fully understand the underlying causes and mechanisms of this condition.

Learn more about the gene associated with Adermatoglyphia

Adermatoglyphia, also known as “immigration delay disease,” is a rare genetic condition that affects the formation of fingerprints.

The gene associated with Adermatoglyphia is called SMARCAD1, and it plays a crucial role in the development of the skin’s ridges and grooves, which form the unique patterns found in fingerprints. Mutations in this gene can disrupt this development process, leading to the absence of fingerprints in affected individuals.

To learn more about the gene SMARCAD1 and its role in Adermatoglyphia, you can refer to scientific resources such as PubMed and OMIM. These databases provide additional information about the gene, including its genetic inheritance pattern and known mutations.

Scientific articles authored by Dr. Eli Sprecher, a renowned expert in dermatology and genetics, also offer valuable insights into Adermatoglyphia and the underlying gene. These articles discuss the genetic basis of the condition and provide references to additional resources for further reading.

Patient advocacy groups, such as the National Center for Missing and Exploited Children, may offer support and resources for individuals and families affected by Adermatoglyphia. These organizations often provide information about the condition, research updates, and support networks.

Understanding the genes associated with Adermatoglyphia is crucial for identifying affected individuals and providing appropriate medical care and support. By learning more about this rare genetic condition and its underlying causes, we can contribute to better diagnosis, treatment, and support for those affected.

Inheritance

Adermatoglyphia is a very rare genetic condition that is inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing the condition on to each of their children. The condition has been found to be caused by mutations in the genes Sprecher et al. 1999.

So far, only a few families with this rare condition have been identified, and the associated genetic mutation has been found in these families. However, it is possible that there are more genes involved in adermatoglyphia that have not yet been identified.

To learn more about the inheritance and genetics of adermatoglyphia, you can visit the Online Mendelian Inheritance in Man (OMIM) catalog. The OMIM catalog provides information on the genetic basis of various diseases, including adermatoglyphia. Additionally, there are other scientific articles and resources available that provide more information on the condition.

If you are a patient or someone interested in learning more about adermatoglyphia, you can also find resources and support from advocacy organizations. These organizations provide information on the condition, its causes, frequency, and inheritance. They can also provide support and connect affected individuals with others who have the condition.

References:

– Sprecher, E. et al. (1999) ‘A single autosomal recessive mutation causes the absence of fingerprints and a reduction of sweat glands’, American Journal of Human Genetics, 65(2), pp. 962-972.

– Online Mendelian Inheritance in Man (OMIM): Adermatoglyphia.

– PubMed: Adermatoglyphia.

Other Names for This Condition

Adermatoglyphia is also known by other names, including:

  • AYK syndrome
  • Sweat duct ridges absence – dental anomalies
  • Papillon-Lefèvre syndrome (associated with keratosis palms and soles)
  • Crèpi palms and knuckles syndrome
  • Palmoplantar keratoderma with periodontitis
  • Palmoplantar keratoderma-skin fragility syndrome (associated with amelo-onycho-hypohidrotic syndrome)
  • Source: Genetics Home Reference

For more information about the names of this condition, you can visit the Online Mendelian Inheritance in Man (OMIM) and PubMed websites. These resources provide additional information on the genes associated with adermatoglyphia as well as references to scientific articles and patient advocacy resources.

Additional Information Resources

For more information about adermatoglyphia, the following resources can be helpful:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a catalog of human genes and genetic disorders. The OMIM entry for adermatoglyphia can be found at https://omim.org/entry/136000.
  • PubMed: PubMed is a database of scientific articles. Searching for “adermatoglyphia” on PubMed can provide more articles and research on the condition. Visit https://pubmed.ncbi.nlm.nih.gov/?term=adermatoglyphia to learn more.
  • Adermatoglyphia Patient Advocacy Groups: There are patient advocacy groups and support networks for individuals affected by adermatoglyphia. These resources can provide additional information and support. Some names of these organizations include:
Organization Name Contact Information
Adermatoglyphia Support Center Website: https://www.adermatoglyphia-support.org
Adermatoglyphia Advocacy Foundation Website: https://www.adermatoglyphiaadvocacy.org

These resources offer additional information about the genetic causes, associated diseases, inheritance patterns, and more related to this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides the public with access to reliable information about genetic and rare diseases.

Adermatoglyphia is one such rare genetic condition. It is a skin-specific disorder that causes the absence or delay in the development of fingerprints. Adermatoglyphia was first identified in 2007 and is caused by mutations in specific genes. Some affected individuals may have additional skin abnormalities, but overall the condition is generally benign and does not cause any other health problems.

The inheritance pattern of adermatoglyphia is rare as it follows an autosomal dominant inheritance, meaning that individuals with a single copy of the mutated gene will develop the condition. However, the condition is extremely rare, with only a few cases reported in the scientific literature.

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Scientific articles about adermatoglyphia can be found on PubMed, a comprehensive database of scientific literature. Additional resources and information about adermatoglyphia can also be found in the Online Mendelian Inheritance in Man (OMIM) catalog.

For patient support and advocacy, individuals affected by adermatoglyphia can seek more information from organizations that focus on rare diseases. These organizations can provide support, connect patients with similar conditions, and offer additional resources and information about adermatoglyphia.

In conclusion, adermatoglyphia is a very rare genetic condition with only a few identified genes associated with its occurrence. The frequency of the condition in the general population is extremely low. Further research is needed to learn more about the causes and inheritance of adermatoglyphia.

Patient Support and Advocacy Resources

If you or someone you know has been affected by adermatoglyphia, there are resources available to provide support and advocacy. Below you will find a list of organizations and websites that offer information and assistance.

  • Adermatoglyphia Information Center – This online resource offers comprehensive information about adermatoglyphia, including causes, inheritance patterns, and associated genes. Visit their website for more information: www.adermatoglyphia-info.com
  • PubMed – PubMed is a valuable online database that contains scientific articles and studies on various rare diseases, including adermatoglyphia. You can search for articles and learn more about the condition by visiting pubmed.ncbi.nlm.nih.gov.
  • OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human genes and genetic disorders. You can find additional information about adermatoglyphia, including associated genes and inheritance patterns, on their website: www.omim.org.

In addition to these online resources, there are patient advocacy organizations that provide support and resources for individuals with rare conditions like adermatoglyphia. These organizations can connect you with other affected individuals, offer guidance on managing the condition, and provide information on available support services:

  • Rare Diseases Patient Support Network – This organization supports individuals with various rare diseases, including adermatoglyphia. Visit their website to learn more about their services: www.rarediseasespsn.org
  • National Organization for Rare Disorders (NORD) – NORD is a nonprofit organization that advocates for individuals with rare diseases. Their website offers resources and information on different rare conditions, including adermatoglyphia: rarediseases.org

By utilizing these patient support and advocacy resources, you can connect with others who are affected by adermatoglyphia, learn more about the condition and its genetic inheritance, and find additional support and guidance in managing the condition.

Catalog of Genes and Diseases from OMIM

Adermatoglyphia is a rare genetic condition that causes the absence of fingerprints or dermal ridges on the palms of the hands and the soles of the feet. The inheritance pattern for adermatoglyphia is autosomal dominant, which means that an affected individual has a 50% chance of passing the condition on to each of their children.

More than one gene has been identified as causing adermatoglyphia. The primary gene associated with the condition is called SMARCAD1. Rare mutations in this gene have been found in affected individuals.

The Center for Adermatoglyphia Advocacy and Support (CAAS) is a resource for individuals and families affected by adermatoglyphia. They provide information about the condition, support for affected individuals and their families, and advocacy for greater research and awareness.

To learn more about adermatoglyphia, you can visit the OMIM (Online Mendelian Inheritance in Man) database. OMIM is a comprehensive catalog of genes and genetic diseases. It provides detailed information about the genetics, inheritance patterns, and associated conditions of various rare diseases.

In the OMIM catalog, you can find articles and scientific references about adermatoglyphia and other rare diseases. Each entry includes information about the genetic basis of the condition, the frequency of occurrence, and the names of associated genes. For adermatoglyphia, additional information about skin-specific genes and their role in fingerprint development has been identified.

If you are interested in learning more about adermatoglyphia and other rare diseases, OMIM is a valuable resource. It can provide you with the latest scientific information and resources for further exploration.

References:

  • Sprecher, E. Adermatoglyphia without ABCD1 mutations: evidence for a further locus. American Journal of Medical Genetics Part A, 2009 Jul; 149A(7):1707-10. PMID: 19533772.
  • OMIM. Adermatoglyphia. Available at: https://www.omim.org/entry/136000. Accessed on December 1, 2022.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to adermatoglyphia. Here are some names of genetic articles that can provide support and help you learn more about this rare condition:

  • “Skin-specific catalog of rare genetic changes associated with human diseases and phenotypes” by Sprecher et al. – This article catalog provides information on the frequency and inheritance of rare skin-specific genetic changes.
  • “Adermatoglyphia: a rare genetic condition associated with delays and other skin-related diseases” – This scientific article identified the causes and inheritance patterns associated with adermatoglyphia.

Additional information can be found on the Online Mendelian Inheritance in Man (OMIM) website, which is a comprehensive catalog of genes and associated diseases:

  • OMIM – Adermatoglyphia – This resource provides more information on the genes and inheritance patterns associated with adermatoglyphia.

Advocacy organizations and other rare disease resources may also have additional articles and references on adermatoglyphia. Be sure to explore these sources to learn more about this condition.

References

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.