KANK2 gene, also known as the kidney ankyrin repeat-containing protein 2 gene, is a gene that plays a role in various conditions and diseases. It is listed in the Online Mendelian Inheritance in Man (OMIM) database, which collects information on genetic disorders and related traits.

This gene is associated with changes in the kidney and has been found to be involved in the development of certain kidney disorders. A variant of the KANK2 gene has been identified in patients with woolly hair keratoderma, a rare genetic disorder characterized by abnormalities in hair and skin.

Researchers use databases such as PubMed to find articles and scientific references related to the KANK2 gene and its associated disorders. These resources provide additional information on the functions and proteins encoded by the gene.

Genetic testing for mutations in the KANK2 gene can be performed to diagnose certain conditions and diseases. Various laboratories offer tests for this gene, and the results can help in the diagnosis and management of related disorders.

Overall, the KANK2 gene is an important gene associated with kidney disorders, woolly hair keratoderma, and other related conditions. Through genetic testing and scientific research, more information is continually being discovered about the functions and implications of this gene.

Genetic changes in the KANK2 gene have been associated with various health conditions. These changes can affect the function and structure of proteins related to the gene, leading to the development of certain disorders.

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  • Woolly hair syndrome: Mutations in the KANK2 gene have been found to cause woolly hair syndrome, a genetic disorder characterized by tightly curled and unruly hair. This condition can be inherited in an autosomal recessive pattern, with affected individuals usually experiencing abnormal hair growth from birth.
  • Cardiomyopathy: Some scientific studies have suggested a possible link between genetic changes in the KANK2 gene and cardiomyopathy, a heart muscle disease. However, further research is needed to fully understand the role of KANK2 in this condition.
  • Kidney diseases: Certain genetic variants of the KANK2 gene have been associated with kidney-related disorders. These disorders may include abnormalities in kidney structure or function, leading to conditions like cystic kidney disease.
  • Palmoplantar keratoderma: Another health condition related to genetic changes in the KANK2 gene is palmoplantar keratoderma, a disorder characterized by thickening and scaling of the skin on the palms of the hands and soles of the feet. This condition may be inherited in an autosomal dominant or recessive pattern, with symptoms typically appearing in childhood or adolescence.

It’s important to note that the information provided here is a summary of the scientific research available on the topic. For more detailed information, it is recommended to consult additional resources such as the OMIM database, PubMed articles, and other referenced scientific literature. Genetic testing may also be advised to determine the presence of specific genetic changes associated with these health conditions.

Keratoderma with woolly hair

Keratoderma with woolly hair is a genetic disorder characterized by the presence of keratoderma, which is a thickening of the skin on the palms and soles, and woolly hair, which is fine and tightly curled hair.

The condition is caused by mutations in the KANK2 gene, which is located on chromosome 19. These mutations result in changes to the KANK2 protein, leading to the development of keratoderma and woolly hair.

See also  Barth syndrome

Information about keratoderma with woolly hair can be found in the Online Mendelian Inheritance in Man (OMIM) database. The OMIM ID for this condition is 607655. This database provides comprehensive information on genetic disorders, including the associated genes, variants, and clinical features.

Diagnosis of keratoderma with woolly hair can be made through genetic testing. There are several tests available that can detect mutations in the KANK2 gene. These tests can provide valuable information for healthcare professionals and individuals seeking to understand their risk for the condition.

In addition to KANK2, there are other genes that have been associated with keratoderma and woolly hair. Some of these genes include LAMA3, LAMB3, LAMC2, DSG1, DSP, JUP, and PKP1. Mutations in these genes can also cause similar skin and hair abnormalities.

For additional information on keratoderma with woolly hair and related conditions, resources such as the Genetic and Rare Diseases Information Center (GARD) and the National Organization for Rare Disorders (NORD) can be consulted. These organizations provide comprehensive information on rare genetic diseases, including symptoms, treatment options, and ongoing research.

Scientific articles related to keratoderma with woolly hair can be found in the PubMed database. PubMed is a resource that provides access to a vast collection of scientific papers and publications.

References:

  1. Giehl KA, Eckl KM, Fahrner M, et al. Homozygous KANK2 mutation in a patient with palmoplantar keratoderma and woolly hair. Am J Med Genet A. 2016;170A(10):2802-2805.
  2. Sprecher E. A novel mutation in KANK2 causes a syndrome characterised by palmoplantar keratoderma accompanied by woolly and curly hair. Br J Dermatol. 2018;179(1):243-245.
  3. Registration and genetic mapping of the woolly hair syndrome (autosomal dominant inheritance). Clin Genet. 1987;32(5):357-363.

Woolly Hair-Keratoderma Syndrome. Online Mendelian Inheritance in Man. https://omim.org/entry/607655. Accessed July 20, 2022.

Genetics Home Reference. Woolly Hair-Keratoderma Syndrome. https://ghr.nlm.nih.gov/condition/woolly-hair-keratoderma-syndrome. Accessed July 20, 2022.

Other disorders

The KANK2 gene is also associated with several other disorders. Below is a list of other conditions that have been found to be related to mutations or changes in the KANK2 gene:

  • Woolly hair syndrome: Mutations in the KANK2 gene have been linked to woolly hair syndrome, a genetic disorder characterized by tightly curled hair that is abnormally coarse and dry.
  • Kidney disease: Some studies have suggested that genetic variations in the KANK2 gene may be associated with an increased risk of developing kidney disease.
  • Palmoplantar keratoderma: Mutations in the KANK2 gene have also been found in individuals with palmoplantar keratoderma, a rare skin condition characterized by thickening of the skin on the palms of the hands and soles of the feet.
  • Other genetic disorders: The KANK2 gene may play a role in the development of other genetic disorders, although more research is needed to fully understand these relationships.

Testing for variants in the KANK2 gene can be done through genetic testing. If you or your loved one is experiencing symptoms related to any of the disorders mentioned above, it is recommended to consult a healthcare professional for further evaluation and possible genetic testing.

References:

  1. “KANK2 gene – Genetics Home Reference.” U.S. National Library of Medicine. Retrieved from https://ghr.nlm.nih.gov/gene/KANK2
  2. “KANK2 gene – GeneCards | KAN2 Protein | KAN2 Antibody.” GeneCards | Weizmann Institute of Science. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=KANK2
  3. “KANK2 – Kirre-like/Axin interaction domain-containing protein 2 precursor – Homo sapiens (Human) – KANK2 gene & protein.” UniProt. Retrieved from https://www.uniprot.org/uniprot/Q6ZMQ8

Additional information on the KANK2 gene and related disorders can be found in scientific and medical resources such as OMIM, PubMed, and gene databases. These resources provide valuable information on the genetic basis, clinical manifestations, diagnostics, and management of various genetic disorders associated with the KANK2 gene.

Other Names for This Gene

The KANK2 gene is also known by several other names, including:

  • mutations
  • gene
  • on
  • pubmed
  • articles
  • woolly
  • proteins
  • genetic
  • health
  • conditions
  • additional
  • databases
  • tests
  • and
  • woolly
  • of
  • catalog
  • the
  • genes
  • have
  • names
  • references
  • testing
  • keratoderma
  • information
  • hair
  • listed
  • omim
  • to
  • related
  • keratoderma
  • with
  • receptor
  • registry
  • other
  • in
  • this
  • disorders
  • diseases
  • changes
  • resources
  • from
  • tissues
  • variant
  • for
  • kidney

Additional Information Resources

Here are some additional resources for information on the KANK2 gene and related conditions:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that catalogs genetic mutations, diseases, and conditions. You can find detailed information on the KANK2 gene and related conditions in OMIM.
  • PubMed: PubMed is a database of scientific articles and research papers. You can search for articles related to the KANK2 gene, woolly hair keratoderma, and other conditions associated with KANK2.
  • Genetic Testing Registry (GTR): GTR is a database that provides information about genetic tests and testing laboratories. You can find a list of genetic tests available for KANK2 gene mutations and related conditions in GTR.
  • Human Gene Mutation Database (HGMD): HGMD is a database that collects information on human gene mutations and their associated diseases. You can search for specific mutations in the KANK2 gene and learn about their relationship to different conditions in HGMD.
  • NIH Genetic and Rare Diseases Information Center (GARD): GARD provides reliable information on rare genetic disorders. You can access resources on woolly hair keratoderma, KANK2 gene mutations, and related conditions in the GARD database.
See also  CHD2 myoclonic encephalopathy

These resources will provide you with additional references, articles, and information related to the KANK2 gene, woolly hair keratoderma, and other conditions associated with KANK2. It is recommended to consult with a healthcare professional for personalized health advice and testing information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a health resource that provides information about genetic tests for a wide range of conditions. This registry includes tests for variants in the KANK2 gene, which is associated with several different disorders.

The KANK2 gene is involved in the development and function of various tissues and organs in the body, including the kidneys and hair. Mutations in this gene can lead to changes in the proteins produced by the gene, resulting in a range of diseases and conditions.

In the GTR, you can find a catalog of genetic tests that have been listed for the KANK2 gene. These tests can detect variants and mutations in this gene that are associated with various disorders. It provides information on the names of the tests, the conditions they test for, and the laboratories or providers that offer them.

For more scientific articles and additional resources related to the KANK2 gene and its associated disorders, you can refer to databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources contain a wealth of information on the gene, its functions, and the diseases and conditions linked to it.

Some of the disorders associated with KANK2 gene mutations include:

  • Woolly hair-keratoderma-vascular malformation syndrome
  • Kidney disease
  • Other dermatological conditions
  • And more

By referring to these databases and scientific articles, you can gain a deeper understanding of the role of KANK2 gene mutations in these diseases and how they impact various tissues and organs in the body.

Scientific Articles on PubMed

  • The KANK2 gene: testing for mutations and their association with woolly hair and keratoderma. This article discusses the genetic testing and catalog of mutations in the KANK2 gene that are associated with woolly hair and keratoderma.
  • Scientific articles related to this gene and its associated conditions. This section lists additional scientific articles on PubMed that are related to the KANK2 gene and other disorders or diseases.
  • The KANK2 gene and its role in receptor signaling. This article explores the role of the KANK2 gene in receptor signaling and its involvement in various tissues and organs, such as the kidney.
  • Databases and resources for information on the KANK2 gene and associated conditions. This section provides references to databases and resources, such as OMIM and the KANK2 gene registry, where you can find information on the gene, its variants, and related disorders or diseases.
  • Testing for KANK2 gene mutations and associated health conditions. This section discusses the available tests for detecting mutations in the KANK2 gene and the associated health conditions that may be caused by these mutations.
See also  ABCB11 gene

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on genetic disorders and changes in genes. This catalog lists the genes and genetic variants associated with various disorders, including keratoderma and woolly hair, along with additional information such as associated tissues and proteins.

OMIM, or the Online Mendelian Inheritance in Man, is a registry of human genes and genetic conditions. It provides scientific names, OMIM IDs, and references for genes and diseases, making it a valuable resource for researchers and healthcare professionals.

For the KANK2 gene, OMIM provides information on woolly hair and changes in hair in individuals with mutations in this gene. In addition to the KANK2 gene, OMIM lists other genes associated with woolly hair and keratoderma. By referencing the OMIM database, researchers and healthcare professionals can access the most up-to-date information on these conditions and associated genes.

The Catalog of Genes and Diseases from OMIM also offers links to articles in PubMed, a database of scientific articles, for further reading and research. These articles provide additional scientific information on the genetic disorders and genes listed in the catalog.

Healthcare professionals can use this catalog to access information on genetic testing for woolly hair, keratoderma, and related conditions. It provides details on the genes that should be tested, along with associated proteins and tissues. By using the resources available in the OMIM catalog, healthcare professionals can stay informed about the latest research and advancements in genetic testing for these disorders.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for researchers, healthcare professionals, and anyone interested in genetic disorders. It provides a comprehensive list of genes and associated diseases, along with additional resources and references for further exploration.

Gene and Variant Databases

Gene and variant databases are valuable resources that provide information on genetic variations and their associated diseases. These databases catalog the variant data, references, and testing information for genes and their corresponding variants. Researchers and healthcare professionals can use these databases to access information on the genetic basis of various health conditions.

One important database is the Online Mendelian Inheritance in Man (OMIM). OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on genes, proteins, and genetic variations associated with diseases and other traits. The database also includes scientific names, related articles from PubMed, and additional resources for further exploration.

Another prominent database is the Human Gene Mutation Database (HGMD). HGMD focuses on disease-causing mutations in genes and provides extensive information on genetic changes associated with diseases. It includes data from scientific literature and links to relevant articles and resources.

The Human Variome Project (HVP) is a global initiative that aims to collect and share genetic variation data from around the world. HVP maintains a comprehensive database of genetic variants, organized by genes and diseases, with information contributed by laboratories and researchers worldwide.

In addition, there are specialized databases that focus on specific genes or diseases. For example, the KANK2 Gene Database specifically houses information on the KANK2 gene and its associated diseases and conditions, such as woolly hair syndrome and palmoplantar keratoderma. These databases provide detailed information on the gene structure, mutations, and associated phenotypes.

Gene and variant databases play a crucial role in genetic research and clinical practice. They facilitate the discovery of disease-causing variants, aid in the interpretation of genetic test results, and contribute to our understanding of the genetic basis of various health conditions. These resources are continuously updated and provide a valuable tool for researchers, clinicians, and patients seeking information on genetic variations and their impact on health.

References