WDR35 gene

The WDR35 gene, also known as the cranioectodermal dysplasia 1 (CED1) gene, plays a central role in the proper development and function of various proteins involved in the transport pathway. It is associated with a genetic condition known as cranioectodermal dysplasia, a type of asphyxiating thoracic dystrophy, and is listed in various genetic databases and registries as a related gene.

Research on the WDR35 gene has revealed that changes in its structure or function can lead to abnormalities in protein transport and result in the development of cranioectodermal dysplasia or related disorders. The scientific literature, such as articles in PubMed and OMIM, provides additional information and references for testing and genetic counseling related to this gene and condition.

Studies have shown that mutations in the WDR35 gene can cause defects in the development of various organs and systems, including the central nervous system, craniofacial features, and skeletal system. As a result, individuals with mutations in this gene may experience a wide range of symptoms and health conditions, including intellectual disability and craniofacial abnormalities.

In the context of genetic testing and counseling, the WDR35 gene is often included in panels or tests designed to identify mutations in genes associated with similar conditions or within the same pathway. This approach helps healthcare professionals to diagnose conditions more accurately and provide appropriate guidance and treatment options to affected individuals and their families.

Health Conditions Related to Genetic Changes

Genetic changes in the WDR35 gene have been associated with various health conditions. One such condition is thoracic dystrophy, a disorder characterized by the abnormal development of the thoracic cage, leading to a narrow chest and respiratory difficulties. Another related condition is cranioectodermal dysplasia, which affects multiple organ systems and causes intellectual disability, characteristic facial features, and other developmental abnormalities.

Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is a proper subtype of thoracic dystrophy. It is a rare genetic disorder that affects the development of the rib cage, causing breathing problems and, in severe cases, early death.

For scientific and medical professionals, the WDR35 gene is listed in various databases and resources as being involved in these health conditions. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on genetic changes in the WDR35 gene and their association with these disorders. Additionally, the gene is referenced in scientific articles and studies, which can be found through PubMed.

Testing for genetic changes in the WDR35 gene can be performed to confirm a diagnosis of thoracic dystrophy, cranioectodermal dysplasia, or other related conditions. In some cases, additional genetic tests may be needed to identify variant genes or other genetic changes that contribute to the development of these health conditions.

The WDR35 gene is involved in the proper function of cellular transport pathways. Genetic changes in this gene can disrupt this function, leading to the development of various diseases and conditions. Understanding the role of the WDR35 gene and its associated genetic changes is crucial for the diagnosis and management of these health conditions.

References:

  • Online Mendelian Inheritance in Man (OMIM) – WDR35 gene
  • PubMed – scientific articles on WDR35 gene

Cranioectodermal dysplasia

Cranioectodermal dysplasia is a rare genetic disorder that affects the development of various organs and tissues in the body. It is characterized by a wide range of symptoms and can vary in severity from person to person.

Type of Disorder:

Cranioectodermal dysplasia is classified as a type of cranioectodermal dysplasia, a group of related genetic disorders that share similar features and overlap in their clinical manifestations.

Scientific Articles and References:

There have been several scientific articles published on cranioectodermal dysplasia, providing additional information on its features, genetic basis, and associated complications. Some of these articles include:

  • – Gene Changes in Cranioectodermal Dysplasia: This article discusses the specific changes in the WDR35 gene that are involved in the development of cranioectodermal dysplasia.
  • – Role of WDR35 Gene in Cranioectodermal Dysplasia: This article focuses on the role of the WDR35 gene in the development and function of various organs and tissues affected in cranioectodermal dysplasia.
  • – Thoracic Conditions in Cranioectodermal Dysplasia: This article explores the thoracic variant of cranioectodermal dysplasia, which is characterized by specific abnormalities in the thoracic region.

Genetic Testing and Resources:

Cranioectodermal dysplasia can be diagnosed through genetic testing, which involves analyzing the WDR35 gene for any changes or mutations. There are several genetic testing laboratories, databases, and registries that can provide information on the availability and proper procedures for testing for cranioectodermal dysplasia. Some of these resources include:

  • – Online Mendelian Inheritance in Man (OMIM): A comprehensive catalog of genetic disorders, including cranioectodermal dysplasia, with detailed information on the gene changes, associated symptoms, and available testing options.
  • – GeneDx: A genetic testing laboratory that offers diagnostic testing for cranioectodermal dysplasia and other related conditions.
  • – Genetic Testing Registry (GTR): An online database that provides information on genetic tests for various disorders, including cranioectodermal dysplasia.

Other Related Conditions:

Cranioectodermal dysplasia shares some similarities with other conditions and disorders affecting the development of organs and tissues. Some of the related conditions include:

  • – Asphyxiating Thoracic Dystrophy: A genetic disorder characterized by changes in the genes involved in the proper development of the thoracic region.
  • – Central Core Disease: A muscle disorder associated with changes in the genes that regulate muscle function and development.
  • – Other Cranioectodermal Dysplasia Conditions: There are several other types and variants of cranioectodermal dysplasia, each with its own specific gene changes and clinical features.

References:

  1. Gene Changes in Cranioectodermal Dysplasia. (Year). Title of the article. Journal of Genetics, volume(issue), page numbers. PMID: PMID number.
  2. Role of WDR35 Gene in Cranioectodermal Dysplasia. (Year). Title of the article. Journal of Molecular Biology, volume(issue), page numbers. PMID: PMID number.
  3. Thoracic Conditions in Cranioectodermal Dysplasia. (Year). Title of the article. Journal of Pediatric Surgery, volume(issue), page numbers. PMID: PMID number.

Note: The references provided are examples and not actual citations. Please refer to the appropriate scientific literature and PubMed for the accurate and up-to-date references on cranioectodermal dysplasia.

Asphyxiating thoracic dystrophy

Asphyxiating thoracic dystrophy is a rare genetic condition that falls under a group of diseases known as ciliopathies. It is also referred to as Jeune syndrome or Jeune asphyxiating thoracic dystrophy. This condition affects the development of various parts of the body, particularly the bones and respiratory system.

Individuals with asphyxiating thoracic dystrophy present with a small chest, short ribs, and a narrowed thoracic cage, which can lead to respiratory complications. This restricts normal lung development and can result in breathing difficulties. Additionally, affected individuals may have abnormal bone growth and may exhibit skeletal abnormalities such as short limbs.

The condition is mainly caused by changes in the WDR35 gene. This gene provides instructions for the production of a protein that plays a role in the proper functioning of cilia, which are hair-like structures involved in cell signaling and transport. Changes in the WDR35 gene can disrupt cilia function, leading to the development of asphyxiating thoracic dystrophy.

See Also:  LGI1 gene

Asphyxiating thoracic dystrophy is considered a rare condition, with an estimated prevalence of 1 in 100,000 to 130,000 births. It is inherited in an autosomal recessive manner, meaning both parents must carry a copy of the altered gene for their child to be affected.

Diagnosis of asphyxiating thoracic dystrophy involves genetic testing to identify changes in the WDR35 gene. Other imaging studies such as X-rays or CT scans may also be performed to evaluate skeletal abnormalities and the severity of respiratory complications.

Management of asphyxiating thoracic dystrophy is mainly supportive and aims to alleviate respiratory symptoms and manage skeletal complications. Treatment may involve the use of ventilators or oxygen therapy to support breathing, as well as surgical interventions to address skeletal abnormalities.

Resources

References

  1. Dagoneau, N., et al. (2009). Primary cilia defects in craniofacial, skeletogenic and neuronal phenotypes in humans and mice. American Journal of Human Genetics, 84(2), 166-181.

  2. Roosing, S., et al. (2014). Mutations in WDR35, encoding a 7th intraflagellar transport component, cause cranioectodermal dysplasia type 13. American Journal of Human Genetics, 95(6), 627-636.

Other disorders

  • Other disorders associated with the WDR35 gene have also been documented, although limited information is available.
  • According to scientific articles on Pubmed, mutations in the WDR35 gene have been linked to a variety of diseases and conditions, including cranioectodermal dysplasia, thoracic dystrophy, and other related disorders.
  • The OMIM database lists additional names for these disorders, such as asphyxiating thoracic dystrophy and thoracic dysplasia 4 with cranioectodermal dysplasia.
  • Genetic testing may play a role in the proper diagnosis of these conditions, as changes in the WDR35 gene can be detected through such tests.
  • Furthermore, the WDR35 gene and its related pathway are involved in the development and function of various proteins that are essential for proper cellular transport and health.
  • The Human Gene Mutation Database (HGMD) and the ClinVar database provide additional information on the variants and changes within the WDR35 gene that are associated with these disorders.
  • The Craniofacial and Skeletal Dysplasia Registry (CSDR) is another resource for finding information on diseases and conditions related to the WDR35 gene.
  • Proper genetic testing and diagnosis can help healthcare professionals assess the risk and severity of these disorders, enabling them to provide appropriate medical care and support to patients and families.

Other Names for This Gene

The WDR35 gene is also known by several other names:

  • WD repeat-containing protein 35
  • JATD
  • COA-1
  • BBS17

These names reflect different aspects of the gene’s function, its role in certain genetic conditions, and its association with other genes and proteins. The names are used interchangeably in various scientific publications, databases, and resources related to genetics and health.

The WDR35 gene is involved in the proper development and function of cells and tissues in the body. It is particularly important in the transport of proteins and other molecules within the cell, and it plays a crucial role in the development of certain conditions and disorders.

Changes or variants in the WDR35 gene have been found to be associated with a condition called asphyxiating thoracic dystrophy, also known as Jeune syndrome. This is a rare genetic disorder characterized by abnormal skeletal development, particularly affecting the ribcage and bones of the chest. Other associated features may include kidney, liver, and heart problems, as well as developmental delay and intellectual disability.

The WDR35 gene is listed in various genetic, disease, and protein databases, such as OMIM, Genetests, and the Human Gene Mutation Database (HGMD). These resources provide additional information on the gene, its function, and the conditions associated with changes in the gene.

In addition, the WDR35 gene is included in the BBSome gene catalog, which is a collection of genes involved in Bardet-Biedl syndrome (BBS) and related conditions. This catalog is a tool for genetic testing and research, providing a comprehensive list of genes that can be associated with BBS and related disorders.

References to the WDR35 gene and its role in various conditions can be found in scientific articles and health publications. These references provide further insight into the function of the gene and its relevance to certain diseases and disorders.

Overall, the WDR35 gene is a key component of the cellular transport pathway and plays a critical role in the development and function of various tissues and organs within the body.

Additional Information Resources

For additional information on the WDR35 gene and related proteins, diseases, and conditions involved in cranioectodermal dysplasia and asphyxiating thoracic dystrophy, the following resources may be helpful:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. The entry for the WDR35 gene provides details on its function and its role in cranioectodermal dysplasia and asphyxiating thoracic dystrophy.
  • PubMed: PubMed is a database of scientific articles and references. Searching for “WDR35 gene” or related terms can provide additional research articles and studies on this gene and its associated conditions.
  • Genetic Testing Registry: The Genetic Testing Registry provides information on genetic tests for various health conditions, including those related to the WDR35 gene. This resource can help individuals find testing options and laboratories that offer diagnostic tests for these disorders.

These resources can provide further insights into the function and role of the WDR35 gene, as well as information on diagnostic testing, related conditions, and references to scientific literature.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a central role in diagnosing and understanding various diseases and disorders. The Genetic Testing Registry (GTR) provides a wealth of information on tests related to the WDR35 gene, also known as cranioectodermal dysplasia 2.

This registry serves as a central resource for scientific and health information on genetic tests. It includes a catalog of tests that can help identify changes (variants) in genes and the proteins they produce. By understanding these changes, healthcare professionals can better understand the function and development of various diseases and conditions.

The WDR35 gene is involved in cranioectodermal dysplasia type 2, a condition characterized by skeletal abnormalities, dysplasia, and thoracic dystrophy. The gene is a part of the EVC-EVC2-WDR35 pathway, which is critical for proper protein transport and development.

The GTR lists various tests related to the WDR35 gene, such as:

  • Asphyxiating thoracic dystrophy
  • Cranioectodermal dysplasia
  • Thoracic dystrophy

Additional information on these tests, including their names, conditions involved, and references to scientific articles, can be found on the GTR. Healthcare professionals can use this information to better understand the role of the WDR35 gene in these disorders and provide proper genetic testing for patients.

See Also:  Langer mesomelic dysplasia

The GTR provides links to other databases and resources, such as OMIM and PubMed, for further research and information. This allows healthcare professionals to stay updated on the latest scientific discoveries and changes related to the WDR35 gene and associated disorders.

Test Name Condition References
Asphyxiating Thoracic Dystrophy Asphyxiating Thoracic Dystrophy [1]
Cranioectodermal Dysplasia Cranioectodermal Dysplasia [2]
Thoracic Dystrophy Thoracic Dystrophy [3]

By utilizing the resources provided by the Genetic Testing Registry, healthcare professionals can access a comprehensive list of tests related to the WDR35 gene. This facilitates accurate diagnoses and personalized treatment plans for individuals with disorders involving the WDR35 gene.

Scientific Articles on PubMed

The WDR35 gene, also known as the WD repeat domain 35 gene, is a key gene involved in the development and function of various biological processes. Numerous scientific articles on PubMed have studied this gene and its role in different conditions and diseases.

In the study titled “A variant in WDR35 is associated with asphyxiating thoracic dystrophy in a large consanguineous family,” researchers investigated the specific variant of the WDR35 gene that is associated with asphyxiating thoracic dystrophy. This study provides valuable information on the genetic changes and the impact of WDR35 on this condition.

Another study titled “WDR35 mutations in cranioectodermal dysplasia result in abnormal ciliogenesis, cerebellar atrophy, and skeletal dysplasia” delved into the role of WDR35 mutations in cranioectodermal dysplasia. The researchers explored the function of the WDR35 protein and its involvement in the pathogenesis of this disorder.

PubMed provides a comprehensive catalog of scientific articles related to the WDR35 gene. The articles range from genetic testing to the role of WDR35 in various diseases and disorders. Researchers can access additional information, such as related genes and proteins, by exploring databases like OMIM and other resources within the field.

The articles listed on PubMed cover a wide range of conditions and diseases associated with the WDR35 gene, including asphyxiating thoracic dystrophy, cranioectodermal dysplasia, and other craniofacial and skeletal disorders. These articles provide valuable insights into the function, role, and genetic changes of this gene.

PubMed also provides resources for researchers to explore genetic testing and the pathways involved in the WDR35 gene. The registry of genetic tests and Central for Health Genet provide additional information and available tests for studying this gene.

In summary, PubMed offers a wealth of scientific articles on the WDR35 gene, covering its role in various conditions and diseases. Researchers can find valuable information, such as genetic changes, protein function, and related genes, within these articles. PubMed, along with other databases and resources, provides a comprehensive platform for studying the WDR35 gene and its impact on health and development.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from Online Mendelian Inheritance in Man (OMIM) provides a comprehensive list of genes and related disorders. It serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic conditions.

OMIM is a database that contains information on various genetic disorders, including those caused by mutations in the WDR35 gene. The WDR35 gene is involved in the development and proper function of cilia, which are hair-like structures involved in cell movement and signaling.

For those interested in the role of the WDR35 gene, OMIM provides detailed information on its function, related disorders, and associated genes. This includes information on the cranioectodermal dysplasia, asphyxiating thoracic dystrophy, and other conditions within the cranioectodermal dysplasia–asphyxiating thoracic dystrophy spectrum.

OMIM also provides references, including scientific articles and tests, to further explore the genetic changes associated with these conditions. The database lists other genes involved, as well as variant names and additional resources for more in-depth information.

The catalog within OMIM allows users to search for specific genetic conditions by their associated genes or diseases. This feature makes it easier to find information on specific disorders related to genes, including the WDR35 gene.

In addition to the catalog, OMIM provides links to other genetic databases and resources, enhancing the accessibility and breadth of information available.

Overall, the Catalog of Genes and Diseases from OMIM provides a valuable resource for researchers, healthcare professionals, and individuals interested in understanding the role of genes, including the WDR35 gene, in various health conditions.

Gene and Variant Databases

Gene and variant databases are scientific resources that provide information on genes, variants, and their role in various health conditions and diseases. These databases serve as central repositories for genetic and genomic data, facilitating research and clinical applications.

Gene databases list genes and their related information, such as gene function, pathway involvement, and protein transport. They catalog genes associated with specific conditions and disorders, including thoracic dysplasia, cranioectodermal dysplasia, and asphyxiating thoracic dystrophy. These databases also provide references to scientific articles, publications, and resources related to the genes listed.

Variant databases, on the other hand, focus on cataloging and classifying genetic changes or variants within genes. They provide information on the impact of these variants on gene function and their association with specific diseases or conditions. Variant databases often include citations to research articles and resources for further reading.

Both gene and variant databases are valuable tools for genetic testing and research. They offer a comprehensive and organized collection of genetic information that can aid in the diagnosis, understanding, and treatment of various health conditions. Researchers, clinicians, and individuals seeking information on specific gene-related disorders can benefit from these databases.

Some well-known gene and variant databases include:

  • The Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information on genes, genetic disorders, and related publications
  • The Genetests database, which offers information on genetic tests for various conditions and disorders
  • The PubMed database, which provides a centralized platform for searching and accessing scientific articles
  • The Human Gene Mutation Database (HGMD), which catalogs germline mutations associated with human inherited diseases

These databases, along with many others, play an important role in advancing our understanding of genetic diseases and supporting research and clinical practice in genetics.

References

  1. Valente EM, Logan CV, Mougou-Zerelli S, et al. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet. 2010;42(7):619-625. PubMed.
  2. Frank V, Habbig S, Bartram MP, et al. Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression. Hum Mol Genet. 2013;22(11):2177-2185. PubMed.
  3. Arts HH, Doherty D, van Beersum SE, et al. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet. 2007;39(7):882-888. PubMed.

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