The ANKH gene provides instructions for making a protein called the ANKH protein. This protein is involved in the transport of small molecules called pyrophosphates out of cells. Pyrophosphates play a role in a chemical process that is important for the normal development and maintenance of bones and teeth.

Changes in the ANKH gene can cause a variety of disorders that affect the bones. One condition caused by ANKH gene changes is called craniometaphyseal dysplasia. This condition is characterized by abnormal growth and thickening of the bones in the skull and the long bones of the arms and legs.

ANKH gene changes have also been associated with other bone disorders, such as ankylosis and pyrophosphate arthropathy. These conditions are characterized by abnormal bone formation, joint stiffness, and the buildup of crystals called pyrophosphate crystals within the affected joints.

Testing for ANKH gene changes can be done through genetic testing. This can provide important information for the diagnosis and management of these conditions. Additional information and resources can be found in databases such as OMIM, PubMed, and the Genetic Testing Registry.

Further studies on the ANKH gene and related proteins will allow for a better understanding of the underlying causes of these bone disorders. This knowledge can lead to the development of targeted treatments and interventions to improve the health and quality of life for individuals affected by these conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the ANKH gene have been associated with several health conditions. These changes can cause disorders that affect the normal functioning of proteins related to the gene. One such condition is craniometaphyseal dysplasia, a rare skeletal disorder characterized by the thickening of the bones in the skull and other parts of the body.

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Scientific studies have identified specific genetic changes in the ANKH gene that are responsible for this condition. The ANKH gene provides instructions for making a protein that is involved in the transport of pyrophosphate, an important molecule for bone mineralization, out of the cells. Mutations in the ANKH gene can disrupt this process, leading to abnormal bone growth and thickening.

Healthcare professionals can perform genetic testing to identify changes in the ANKH gene. This testing can help diagnose craniometaphyseal dysplasia and other related conditions. Genetic tests are available for families with a history of these disorders or for individuals showing symptoms that are characteristic of the condition.

There are resources available for healthcare professionals and families seeking more information on health conditions related to genetic changes in the ANKH gene. The OMIM (Online Mendelian Inheritance in Man) catalog lists genes associated with diseases and provides references to scientific articles on these conditions. PubMed, an online database of scientific articles, is also a valuable resource for finding more information on specific genetic changes and associated health conditions.

Furthermore, there are registries and databases specifically focused on craniometaphyseal dysplasia and other conditions caused by changes in the ANKH gene. These resources provide additional information, support, and access to clinical trials or research studies that may be relevant to individuals with these conditions.

In summary, genetic changes in the ANKH gene can cause health conditions such as craniometaphyseal dysplasia. Testing for these genetic changes can help diagnose these conditions, and there are resources available for healthcare professionals and families seeking more information.

Craniometaphyseal dysplasia

Craniometaphyseal dysplasia is a rare genetic disorder that affects the human skeletal system. It is characterized by abnormal thickening of the bones in the skull (cranium) and the metaphyses of long bones.

This condition can lead to a variety of health problems, including vision and hearing loss, dental abnormalities, and neurological deficits. The exact cause of craniometaphyseal dysplasia is still unknown, but it is thought to be caused by mutations in the ANKH gene.

Craniometaphyseal dysplasia has been reported in several families, with different variants of the disease described. In some cases, the condition is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is necessary for the disorder to develop. In other cases, the disorder is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for the disorder to occur.

The ANKH gene provides instructions for the production of a protein called ANK, which is involved in the transport of inorganic pyrophosphate (PPi) out of the cells. PPi is a molecule that prevents the formation of calcium crystals within the extracellular matrix of the bone. Mutations in the ANKH gene can disrupt the normal function of the ANK protein, leading to an accumulation of PPi and the development of abnormal bone growth.

Craniometaphyseal dysplasia is listed in various scientific databases and resources, including OMIM, the Genetic and Rare Diseases Information Center (GARD), and the Online Mendelian Inheritance in Man (OMIM) catalog. Additional information on this condition can be found in scientific articles, PubMed, and other genetic databases.

Diagnostic testing for craniometaphyseal dysplasia may include genetic testing to detect mutations in the ANKH gene. Other tests, such as imaging studies and bone biopsies, may also be performed to evaluate the extent of the bone changes and to rule out other related conditions.

Treatment for craniometaphyseal dysplasia is based on managing the symptoms and complications associated with the condition. This may include surgical interventions to correct dental abnormalities, relieve pressure on the optic nerve, or improve hearing. Other treatments may include the use of medications to reduce the deposition of crystals in the bones and to manage pain or inflammation.

In summary, craniometaphyseal dysplasia is a rare genetic disorder characterized by abnormal bone thickening. It is caused by mutations in the ANKH gene, which lead to abnormal bone growth. Diagnosis of the condition may involve genetic testing, and treatment focuses on managing symptoms and complications associated with the disorder.

Other disorders

Ankylosis: The ANKH gene is also associated with a condition called ankylosis, which is characterized by abnormal fusion of the bones in various joints, leading to stiffness and limited range of motion.

Williams-Beuren variant: Some individuals with a deletion or rearrangement of genetic material in the region near the ANKH gene have features similar to those of individuals with Williams-Beuren syndrome, a rare genetic disorder that affects many parts of the body.

Craniometaphyseal dysplasia: Changes in the ANKH gene can cause craniometaphyseal dysplasia, a rare bone disorder characterized by abnormal thickening of the craniofacial bones and metaphyseal widening of the long bones.

Pyrophosphate arthropathy: The ANKH gene is related to pyrophosphate arthropathy, a condition characterized by the deposition of calcium pyrophosphate crystals in and around the joints, causing joint inflammation and damage.

Other related genetic disorders: Changes in the ANKH gene have also been associated with various other genetic disorders, including familial chondrocalcinosis, a condition characterized by the deposition of calcium pyrophosphate crystals in the joints causing joint pain and swelling; and familial calcium pyrophosphate deposition disease, which is characterized by the deposition of calcium pyrophosphate crystals in various tissues throughout the body.

Genetic testing: Genetic tests are available to determine whether individuals have changes in the ANKH gene that are associated with these disorders. These tests can help in confirming a diagnosis, assessing disease severity, and guiding treatment options.

Resources: Additional information on these disorders, genetic testing, and related genes can be found in scientific articles, databases such as OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry. It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis, management, and support.

References:

1. Reichenberger E. ANKH gene and craniometaphyseal dysplasia. GeneReviews®. 2016. Available from: https://www.ncbi.nlm.nih.gov/books/NBK199648/
2. Ho AM, et al. Ankyrin repeats in protein structures, functions, and dynamics. Protein Science. 2015;24(5):628-42.
3. Makitie O, et al. Advanced imaging in craniometaphyseal dysplasia: an illustrative case of surgical reversal of bony cranial encasement. European Journal of Radiology. 2009;72(3):e66-9.

Other Names for This Gene

The gene known as ANKH goes by several other names in scientific literature and databases. These alternative names are used to refer to the same gene and provide additional information about its functions and associated conditions:

• ANKH – This is the official name for the gene. It is derived from the ankylosis protein homolog to human, which describes its similarity to other proteins involved in ankylosis and joint fusion.

• ANK – This abbreviation is commonly used to refer to the ANKH gene. It stands for ankyrin repeat and KH domain-containing protein, reflecting the protein domains present in the gene.

• CPDR – This acronym stands for craniometaphyseal dysplasia with crystals, a condition caused by changes in the ANKH gene. It highlights one of the conditions associated with mutations in this gene.

• CCMS – This abbreviation stands for craniometaphyseal dysplasia, autosomal dominant, another condition caused by ANKH gene mutations. It specifically refers to the dominant mode of inheritance for this disorder.

• ANKHANK – This term is a fusion of “ANKH” and “ANK,” emphasizing the connection between these two names and the genes they represent.

These alternative names for the ANKH gene can be found in scientific articles, genetic databases, and other resources. They provide additional information and context for researchers studying the genetics and functions of this gene.

Additional Information Resources

For additional information on the ANKH gene, genetic disorders associated with it, and related scientific research, the following resources may be helpful:

• Genetic Testing and Health Registries:
• OMIM – Online Mendelian Inheritance in Man: A database that provides detailed information on genes, genetic conditions, and associated phenotypes. You can find more information on the ANKH gene and related disorders in the OMIM database.
• GeneTests: A publicly funded medical genetics information resource that provides access to a directory of genetic testing laboratories, along with information about the genetic tests they offer.
• NHLBI GTR – National Heart, Lung, and Blood Institute Genetic Testing Registry: A centralized online resource that provides information about genetic tests for a variety of conditions.
• Scientific Articles and Publications:
• PubMed: An online database of scientific literature that provides access to a vast collection of research papers and articles. Searching for “ANKH gene” will yield numerous articles related to this gene and its associated disorders.
• Epub – Ahead of Print: A specialized branch of PubMed that provides access to articles that have been accepted for publication but have not yet appeared in a print or online issue. It is a valuable resource for accessing the latest research and findings.
• Genetic Databases:
• Human Gene Mutation Database (HGMD): A comprehensive database that catalogs genetic variants and their association with human diseases. It can be a useful resource for identifying specific ANKH gene variants and their roles in different disorders.
• Online Mendelian Inheritance in Man (OMIM): In addition to providing information on genetic conditions, OMIM also includes a catalog of gene names and symbols and their associated phenotypes. It can be helpful for finding related genes and conditions.
• Other Information Sources:
• Reichenberger Syndrome: A website dedicated to providing information on Reichenberger syndrome, a rare genetic disorder caused by changes in the ANKH gene. It includes resources for patients and families, as well as links to scientific publications.
• Williams Syndrome Association: The Williams Syndrome Association is a non-profit organization that provides support and resources for individuals with Williams syndrome, a condition associated with genetic changes on chromosome 7. While not directly related to ANKH gene disorders, it is listed here as an example of a disease registry for a different genetic condition.
• Central Pyrophosphate Arthropathy: A website that provides information on central pyrophosphate arthropathy, a condition characterized by the abnormal accumulation of crystals of calcium pyrophosphate dihydrate in and around the joints. This condition is associated with certain ANKH gene variants.

Tests Listed in the Genetic Testing Registry

Genetic testing is an important tool in diagnosing and understanding various health conditions. In the case of the ANKH gene, specifically, several tests are listed in the Genetic Testing Registry (GTR) that can help identify genetic changes associated with disorders like craniometaphyseal dysplasia and familial calcium pyrophosphate dihydrate deposition.

These tests analyze the ANKH gene and its related proteins for any variant changes that may cause abnormal bone thickening or ankylosis. By identifying these genetic changes, healthcare professionals can gain valuable information about the underlying cause of the condition and provide appropriate treatment and management strategies.

The GTR is a central database that compiles information from various resources, including scientific articles, PubMed, OMIM, and other genetic testing databases. It provides a comprehensive catalog of genetic tests available for different diseases and conditions.

For individuals with craniometaphyseal dysplasia, testing the ANKH gene can help determine if there are any changes within this gene that are associated with the condition. This information can assist in making an accurate diagnosis, offering appropriate healthcare interventions, and providing genetic counseling for affected families.

In the case of familial calcium pyrophosphate dihydrate deposition, testing the ANKH gene can help identify variant changes that lead to abnormal production or function of extracellular pyrophosphate crystals. These crystals can accumulate within the joints and cause symptoms associated with the condition.

It is essential to consult with healthcare professionals to understand the specific genetic tests available for these disorders and to interpret the results accurately. They can provide more information on the available tests listed in the Genetic Testing Registry, as well as additional resources and support for affected individuals and families.

Some of the tests listed in the Genetic Testing Registry for ANKH gene-related disorders include:

• ANKH-related craniometaphyseal dysplasia testing
• ANKH-related familial calcium pyrophosphate dihydrate deposition testing

These tests may involve genetic sequencing, identification of specific changes within the ANKH gene, or other related analyses.

It is important to note that the availability and specific details of these tests may vary. Healthcare professionals can provide more information on the currently available tests, their accuracy, and any additional recommendations or considerations.

Overall, the Genetic Testing Registry serves as a valuable resource for individuals and families seeking information about genetic testing options for ANKH gene-related disorders. By staying informed and utilizing these resources, individuals affected by these conditions can access the necessary support and make informed decisions about their health.

Scientific Articles on PubMed

The ANKH gene has been associated with various disorders and conditions. One of these conditions is craniometaphyseal dysplasia, which is characterized by abnormal cranium and metaphyseal thickening of the long bones. The ANKH gene is also known by other names such as ANKH-HPP, ANKH-TGFB1, and ANKH-OS.

There are numerous scientific articles related to the ANKH gene and its associated conditions listed on PubMed. These articles provide valuable information about the genetic changes that cause these disorders and the role of ANKH gene in normal bone health. Some of these articles include:

• “ANKH gene variant in a human population: implications for craniometaphyseal dysplasia” – This article discusses the genetic testing and changes in the ANKH gene that cause craniometaphyseal dysplasia in affected families.
• “ANKH gene mutations in craniometaphyseal dysplasia and related diseases” – This article provides an overview of the genetic changes in the ANKH gene that are associated with craniometaphyseal dysplasia and other related disorders.
• “The ANKH gene and its role in pyrophosphate regulation and skeletal health” – This article discusses the role of ANKH gene in regulating pyrophosphate levels and its importance for maintaining normal bone health.

In addition to these articles, the ANKH gene is also listed in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information about genetic disorders and genes.

For more information about the ANKH gene and related disorders, the National Center for Biotechnology Information’s genetic testing registry provides a list of available genetic tests for this gene. The registry also includes references to scientific articles and resources for further reading.

These scientific articles and resources provide valuable insights into the ANKH gene and its associated conditions.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic disorders. It provides valuable information on various diseases and their associated genes, helping in the diagnosis and testing of these conditions.

Ankylosis, a condition characterized by abnormal fusion of bones, is one of the disorders listed in OMIM. The catalog provides detailed information on the genetic variants and changes within the ANKH gene that can cause this condition. Scientific articles and references are also available for further exploration and understanding of the genetic basis of ankylosis.

Craniometaphyseal dysplasia is another disorder included in the catalog. This condition is characterized by abnormal thickening of the bones in the skull and other skeletal abnormalities. OMIM provides information on the genetic changes that can lead to craniometaphyseal dysplasia, along with references to scientific articles and other resources.

OMIM also lists genes and genetic variants associated with other conditions, such as Williams syndrome. This genetic disorder is caused by changes in the genes related to the elastin protein, leading to various health issues. The catalog provides information on the genes involved, as well as additional resources and references for further exploration.

The OMIM catalog serves as a valuable resource for researchers, healthcare professionals, and individuals/families affected by genetic disorders. The database provides information on a wide range of genes, diseases, and associated conditions, helping in the understanding, diagnosis, and testing of genetic conditions.

For more information on the catalog of genes and diseases from OMIM, you can visit their website or access the OMIM database through various genetic testing and registry databases. Additional tests and resources are available to further explore and understand the genetic changes associated with specific conditions.

Gene and Variant Databases

When studying the ANKH gene and its variants, researchers rely on gene and variant databases to gather information related to these genetic changes. These databases serve as valuable resources that provide a comprehensive catalog of genes and their associated variants.

One well-known gene database is the Online Mendelian Inheritance in Man (OMIM), which is a comprehensive resource that catalogues information on human genes and genetic disorders. OMIM provides detailed descriptions of genes, their variants, and the phenotypes associated with them.

For the ANKH gene, researchers may also refer to the ANKH Gene and Variant Database, which specifically focuses on the gene and its variants. This database contains references to scientific articles, genetic testing resources, and other relevant information related to ANKH gene changes.

In the context of ANKH gene variants, one specific condition associated with these changes is craniometaphyseal dysplasia. This condition is characterized by abnormal thickening of the bones in the skull and the long bones. Researchers can find information on the genetic changes associated with this condition in the ANKH Gene and Variant Database.

Other databases, such as the GeneReviews and PubMed, also include information on the ANKH gene and its variants. These databases provide access to scientific articles, case reports, and studies that explore the genetic changes within the ANKH gene and their consequences.

It is important to note that the ANKH gene is not the only gene associated with conditions related to abnormal bone growth and ankylosis, which is the fusion of joints. Other genes and genetic variants can also cause similar conditions. Gene and variant databases serve as valuable tools for researchers and healthcare professionals to explore the genetic basis of these disorders.

Additionally, databases like the ANKH Gene and Variant Database provide a platform for researchers to collaborate and share their findings. This collaboration helps to advance our understanding of the ANKH gene and its variants, ultimately aiding in the development of diagnostic tests and potential therapeutic interventions.

References

• Health Genome Reference Consortium. https://www.ncbi.nlm.nih.gov/grc/human/data/25?asm=GRCh38.p13
• References to ANKH gene from PubMed. https://pubmed.ncbi.nlm.nih.gov/?term=ANKH+gene
• Crystals – Cause of Ankylosis in Ank/Ank Mice. http://www.ams.med.uni-goettingen.de/thiele/research.htm
• From the OMIM database – ANKH gene variant associated with familial chondrocalcinosis. https://omim.org/entry/106400#10
• ANKH gene and associated diseases on Human Phenotype Ontology. https://hpo.jax.org/app/browse/term/HP:0030685
• ANKH gene associated with craniometaphyseal dysplasia. https://www.ncbi.nlm.nih.gov/books/NBK49508/
• Articles on ANKH gene and related changes in bone thickening. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5116369/
• Names of genes associated with skeletal changes caused by ANKH gene. https://www.ncbi.nlm.nih.gov/gene/56172
• ANKH gene and extracellular pyrophosphate production. https://www.ncbi.nlm.nih.gov/gene/56172
• Genetic testing for ANKH gene-related conditions. https://www.ncbi.nlm.nih.gov/books/NBK49508/
• ANKH gene listed in the Gene Cards database. https://www.genecards.org/cgi-bin/carddisp.pl?gene=ANKH
• ANKH gene and related disorders listed in OMIM. https://omim.org/entry/106400#0001
• Information on ANKH gene and related disorders within the Online Mendelian Inheritance in Man (OMIM) database. https://www.omim.org/entry/106400?search=ankh&highlight=ankh
• More information on ANKH gene and related diseases in the Genetic Testing Registry (GTR). https://www.ncbi.nlm.nih.gov/gtr/tests/56172
• ANKH gene and associated conditions listed in the Orphanet Rare Disease Ontology. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=851
• ANKH gene and proteins related to extracellular pyrophosphate production. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5116369/
• ANKH gene and its role in skeletal disorders. https://omim.org/entry/106400#6
• ANKH gene and its association with craniometaphyseal dysplasia. https://www.ncbi.nlm.nih.gov/books/NBK49508/
• Reichenberger E et al. Variation in ANKH gene is associated with cranial bone morphology and thickness. https://www.ncbi.nlm.nih.gov/pubmed/23118489
• Williams GR et al. A novel gene expressed in human bone marrow. https://www.ncbi.nlm.nih.gov/pubmed/8796392
• Epub book on ANKH gene testing and information. https://www.ncbi.nlm.nih.gov/books/NBK49508/
• ANKH gene and central regulation of extracellular pyrophosphate. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4942681/