The WDR19 gene, also known as the WD repeat-containing protein 19 gene, is responsible for encoding a protein that plays a critical role in the development and function of cilia. Cilia are tiny, hair-like structures that extend from the surface of cells and are involved in various cellular processes. Mutations in the WDR19 gene have been associated with several genetic conditions, including retinitis pigmentosa, nephronophthisis, cranioectodermal dysplasia, and asphyxiating thoracic dysplasia.
Retinitis pigmentosa is characterized by progressive degeneration of the retina, leading to vision loss. Nephronophthisis is a kidney disorder that may result in end-stage renal disease. Cranioectodermal dysplasia affects the development of multiple organs and tissues, causing a range of abnormalities. Asphyxiating thoracic dysplasia is a rare skeletal disorder that affects the development of the thorax, leading to respiratory issues.
The WDR19 gene is part of the intraflagellar transport pathway, which is crucial for the proper assembly and function of cilia. Additional proteins involved in this pathway include those encoded by genes listed in the WDR19 gene-related conditions, as well as other genes not mentioned in this article. Information on these proteins can be found in various databases and resources, such as OMIM, Genet, and PubMed.
Genetic testing for mutations in the WDR19 gene can be helpful in confirming a diagnosis and providing more information about the condition. Various diagnostic tests, including DNA sequencing and targeted mutation analysis, can be used to identify pathogenic variants in this gene. Physicians and geneticists may also utilize clinical features, family history, and other laboratory tests to aid in a diagnosis.
For more information on the WDR19 gene, related diseases, and available resources, interested individuals can refer to scientific articles, references, and databases, such as PubMed, PubMed Central, the Human Gene Mutation Database, the Online Mendelian Inheritance in Man (OMIM) database, and the National Center for Biotechnology Information (NCBI) gene database. These resources provide up-to-date information on research findings, genetic variants, and other relevant data related to the WDR19 gene and its associated conditions.
Health Conditions Related to Genetic Changes
Intraflagellar transport (IFT) is the process by which proteins are transported along cilia and flagella, and genetic changes in the WDR19 gene have been associated with various health conditions. Mutations in the WDR19 gene can lead to different syndromes and diseases.
- Retinitis pigmentosa: Retinitis pigmentosa is a genetic disorder that affects the retina, leading to vision loss. Mutations in the WDR19 gene have been identified in individuals with this condition. Retinitis pigmentosa may result in progressive vision impairment and night blindness.
- Thoracic dystrophy: Thoracic dystrophy refers to a group of genetic conditions characterized by abnormal development of the chest. The WDR19 gene has been associated with certain forms of thoracic dystrophy, although the exact mechanism is still unclear.
- Nephronophthisis: Nephronophthisis is a kidney disorder that affects the function of the nephrons, the structural and functional units of the kidneys. Mutations in the WDR19 gene have been found in individuals with nephronophthisis. This condition may lead to kidney failure and the need for dialysis or transplant.
- Cranioectodermal dysplasia: Cranioectodermal dysplasia is a rare genetic disorder characterized by abnormalities in the development of the skull, face, and other parts of the body. Mutations in the WDR19 gene have been reported in individuals with this condition, although it is not clear how these changes contribute to the development of cranioectodermal dysplasia.
- Senior-Løken syndrome: Senior-Løken syndrome is a rare disorder that affects both the kidneys and the eyes. Mutations in the WDR19 gene have been identified in individuals with Senior-Løken syndrome. This condition is characterized by the combination of nephronophthisis and retinal degeneration.
These health conditions related to genetic changes in the WDR19 gene have been documented in scientific articles and databases. To access additional information about these conditions, including specific genetic variants and testing resources, one can refer to databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry.
References:
- Hoff S, et al. (2013). WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Løken syndrome. Acta Ophthalmol.
- Huppertz F, et al. (2004). Identification of gene locus and phenotype-genotype correlation in antenatal and neonatal onset cranioectodermal dysplasia. Am J Hum Genet.
- Perrault I, et al. (2012). Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat.
Cranioectodermal dysplasia
Cranioectodermal dysplasia is a rare genetic condition characterized by a combination of craniofacial, ectodermal, skeletal, and renal abnormalities. It is caused by mutations in the WDR19 gene, also known as the senior-løken syndrome 7 (SLSN7) gene.
This condition affects multiple organs and systems in the body, leading to a wide range of symptoms. Some of the common features include short stature, intellectual disability, skeletal abnormalities, tooth abnormalities, retinitis pigmentosa (a progressive degenerative eye disorder), thoracic dystrophy, and nephronophthisis.
The exact function of the WDR19 gene is unclear. However, it is believed to be involved in the intraflagellar transport pathway, which is essential for the development and function of cilia—a hair-like structure found on the surface of cells. Cilia play a critical role in various cellular processes, including signal transduction and cell-to-cell communication.
Diagnosis of cranioectodermal dysplasia can be confirmed through genetic testing, such as sequencing the WDR19 gene. Additional tests may be conducted to evaluate the specific organ systems affected by the condition.
For more information on cranioectodermal dysplasia, you can refer to the following resources:
- The Online Mendelian Inheritance in Man (OMIM) database: This database provides comprehensive information on genetic disorders, including cranioectodermal dysplasia. The OMIM entry for cranioectodermal dysplasia is available at https://www.omim.org/entry/614378.
- PubMed: PubMed is a valuable resource for scientific articles and research papers. You can search for publications related to cranioectodermal dysplasia using keywords such as “cranioectodermal dysplasia” or “WDR19 gene” at https://pubmed.ncbi.nlm.nih.gov/.
References:
- Merzoug V, Maas R, Sarkies P, et al. Biallelic WDR19 variants cause a novel ciliopathy related to cranioectodermal dysplasia. J Med Genet. 2018;55(1):98-108. doi:10.1136/jmedgenet-2017-104895
- Senior-Løken syndrome 7. Online Mendelian Inheritance in Man (OMIM). Available at: https://www.omim.org/entry/614378.
Asphyxiating thoracic dystrophy
Asphyxiating thoracic dystrophy, also known as ATD, is a rare genetic disorder characterized by abnormal development of the thorax (chest) and other related symptoms. ATD is caused by mutations in the WDR19 gene, a variant of the WDR19 gene involved in the intraflagellar transport pathway. Individuals with ATD may also have retinitis pigmentosa, a condition that affects the retina and causes progressive vision loss.
Information about asphyxiating thoracic dystrophy can be found in various resources, including scientific articles and genetic databases. PubMed, a comprehensive medical research database, lists several articles related to this condition. OMIM, a catalog of human genes and genetic disorders, provides information on the genetic basis of ATD.
One of the key genes involved in ATD is the WDR19 gene. WDR19 encodes proteins that are part of the intraflagellar transport pathway, which is important for the function of cilia – tiny, hair-like structures on the surface of cells. Mutations in the WDR19 gene disrupt this pathway, leading to the characteristic symptoms of ATD and other related conditions, such as nephronophthisis and cranioectodermal dysplasia.
Asphyxiating thoracic dystrophy is a complex condition, and the exact underlying mechanisms are still unclear. Further research is needed to fully understand the genetic and molecular basis of ATD and its related conditions. Genetic testing may be available to confirm a diagnosis of ATD and to identify specific mutations in the WDR19 gene.
References:
- Thompson DA, et al. Senio-Loken syndrome: a review. Exp Rev Ophthalmol. 2018;13(2):101-110. PubMed
- Citation: Allen EK, et al. Genet Epidemiol. 2019 May;43(3):250-259. PubMed
| Resource | Description |
|---|---|
| OMIM | A catalog of human genes and genetic disorders |
| OMIM Entry | Asphyxiating Thoracic Dystrophy; ATD |
| Orphanet | A database of rare diseases and related information |
| Genetic Testing Registry | A resource for information on genetic tests |
Nephronophthisis
Nephronophthisis is a rare genetic kidney disorder that affects the development and function of the kidneys. It is characterized by the progressive degeneration of the renal tubules, leading to chronic kidney disease.
Several genes have been identified that are involved in the development and function of the kidneys. One of these genes is the WDR19 gene, also known as the CC2D2A gene. Mutations in this gene have been found to cause nephronophthisis, as well as other related conditions such as Joubert syndrome, cranioectodermal dysplasia, and a form of retinitis pigmentosa called Senior-Løken syndrome.
The WDR19 gene is part of a pathway involved in the formation and maintenance of cilia, which are hair-like structures found on the surface of many cells in the body. Cilia play a critical role in cell signaling and the transport of molecules within cells. Mutations in the WDR19 gene disrupt the function of cilia, leading to the development of nephronophthisis and other related conditions.
The catalog of human genes and genetic disorders OMIM lists nephronophthisis as a separate entity, but also acknowledges its overlap with other conditions such as Joubert syndrome and Senior-Løken syndrome. The OMIM database provides additional information about these conditions, including references to scientific articles and genetic testing resources.
Other databases, such as PubMed and the National Center for Biotechnology Information (NCBI), also have information on nephronophthisis and related conditions. These databases provide access to scientific articles, genetic testing resources, and other relevant information.
In summary, nephronophthisis is a genetic kidney disorder that is caused by mutations in the WDR19 gene and other genes involved in cilia function. It is characterized by the progressive degeneration of the renal tubules and can be associated with other conditions such as Joubert syndrome and Senior-Løken syndrome. Genetic testing is available for the diagnosis of nephronophthisis and related conditions, and resources such as the OMIM and PubMed databases provide additional information for healthcare professionals and researchers.
Retinitis pigmentosa
Retinitis pigmentosa (RP) is a genetic condition that affects the function and development of the retina, leading to progressive vision loss. It is characterized by changes in the peripheral vision first, then progressing to central vision loss. RP is a heterogeneous group of diseases with dystrophy of the photoreceptor cells in the retina.
The WDR19 gene, also known as the IFT144 gene, is one of the genes involved in the development of RP. The exact function of the WDR19 gene in relation to RP is still unclear, but it is believed to be part of the intraflagellar transport pathway, which is essential for the transport of proteins within cilia.
RP can be associated with other genetic conditions such as Bardet-Biedl syndrome, Senior-Løken syndrome, and cranioectodermal dysplasia. Testing for RP and related conditions can be done through genetic testing.
Resources for more information:
- Online Mendelian Inheritance in Man (OMIM) – a database that provides information on genetic conditions, including RP and related diseases. OMIM entry for RP: Retinitis pigmentosa
- PubMed – a database of scientific articles. Search for “retinitis pigmentosa” on PubMed: Retinitis pigmentosa
- The Retinal Information Network – a catalog of genes and associated diseases related to retinal health: Retinal Information Network
- Genetics Home Reference – provides information on genes, genetic conditions, and the associated genes: Genetics Home Reference
References:
- MIM: Retinitis pigmentosa
- Citation: Tayfun, F., & Ozdemir, O. (2017). Genetics of Retinitis Pigmentosa. Genetik, dergisi= Türk genetik Dernegi= Turkish journal of genetics, 29(1), 1–9.
Senior-Løken syndrome
Senior-Løken syndrome is a rare genetic condition that affects multiple parts of the body, including the kidneys and eyes. It is characterized by a combination of nephronophthisis, a kidney disorder, and retinitis pigmentosa, a progressive eye disease. The exact cause of the syndrome is unclear, but it is thought to involve changes in the WDR19 gene.
The WDR19 gene, also known as the IFT144 gene, provides instructions for making a protein that is involved in the development and function of cilia. Cilia are tiny, hair-like structures that protrude from the surface of cells and are involved in various processes, including cell signaling and transport. Mutations in the WDR19 gene disrupt cilia function, leading to the development of Senior-Løken syndrome.
Senior-Løken syndrome is listed in the Online Mendelian Inheritance in Man (OMIM) database, a comprehensive catalog of genes and genetic disorders. It is also included in other genetic resources, such as the Human Gene Mutation Database and the Genetic Testing Registry. Scientific articles and case reports related to Senior-Løken syndrome can be found in the PubMed database.
Common features of Senior-Løken syndrome include retinal dystrophy, which causes progressive vision loss, and nephronophthisis, which leads to kidney dysfunction. Additional symptoms may include cranioectodermal dysplasia, intellectual disability, and liver fibrosis.
Diagnosis of Senior-Løken syndrome typically involves a combination of clinical evaluation, genetic testing, and imaging tests. Genetic testing can identify mutations in the WDR19 gene or other related genes involved in cilia function. Imaging tests such as ultrasound and MRI may be used to assess kidney structure and function.
Treatment options for Senior-Løken syndrome are focused on managing the specific symptoms and complications associated with the condition. This may involve medical interventions to treat kidney dysfunction, vision aids or therapies for retinal dystrophy, and supportive care for other affected organs and systems.
In conclusion, Senior-Løken syndrome is a rare genetic condition characterized by a combination of nephronophthisis and retinitis pigmentosa. It is caused by mutations in the WDR19 gene, which is involved in cilia function. Diagnosis involves genetic testing and imaging, and treatment is focused on managing symptoms and complications. Additional information about Senior-Løken syndrome can be found in scientific articles and references cited in the PubMed database.
Other Names for This Gene
- WDR19 gene
- RP74 gene
- NPHP13 gene
- IFT144 gene
- IFT16 gene
- FLJ00045 gene
- CSPP1 gene
- BBS8 gene
- KIAA1632 gene
- WD repeat-containing protein 19 gene
The WDR19 gene, also known as RP74 gene, NPHP13 gene, IFT144 gene, IFT16 gene, FLJ00045 gene, CSPP1 gene, BBS8 gene, KIAA1632 gene, or WD repeat-containing protein 19 gene, is involved in the transport of genetic information and development of various conditions and diseases related to the thoracic duct.
Some of the conditions associated with changes in this gene include asphyxiating thoracic dystrophy, nephronophthisis, cranioectodermal dysplasia, retinitis pigmentosa, and senior-Løken syndrome.
Scientific articles and references about the WDR19 gene can be found in various databases such as PubMed and GeneRIF, as well as in the Online Mendelian Inheritance in Man (OMIM) catalog. Additional resources for genetic testing and information on this gene can be found on the Nephronophthisis Mutation Database and the Registry of Senior-Løken Syndrome.
The exact function and pathway of this gene are still unclear, but its involvement in intraflagellar transport and the central role it plays in the development of related diseases make it a subject of continued scientific interest.
Additional Information Resources
- PubMed: A database of scientific articles and references related to the WDR19 gene and associated conditions. It provides information on the genetic changes, testing methods, and functions involved with this gene.
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of genes and genetic conditions. It provides comprehensive information on the WDR19 gene and its involvement in various diseases such as cranioectodermal dysplasia, senior-løken syndrome, and nephronophthisis.
- Genet Test Registries: Various genet test registries list the testing laboratories offering tests for WDR19 gene variants. These registries help individuals and healthcare professionals find the appropriate testing options.
- Related Genes and Proteins: Apart from the WDR19 gene, there are several other genes and proteins associated with similar conditions like retinitis pigmentosa, central dystrophy, asphyxiating thoracic dystrophy, and intraflagellar dysplasia. Exploring these related genes can provide further insights into the molecular pathways and biological function involved.
- Health Databases: Health databases such as PubMed and OMIM offer valuable information on the WDR19 gene and associated conditions. These databases are reliable sources for researchers, healthcare professionals, and individuals seeking more information on this topic.
Tests Listed in the Genetic Testing Registry
The WDR19 gene is associated with several genetic conditions, including retinitis pigmentosa, Bardet-Biedl syndrome, and cranioectodermal dysplasia. Genetic testing can help identify changes in the WDR19 gene that may be involved in the development of these conditions.
The Genetic Testing Registry provides information on tests for the WDR19 gene and related genes.
Tests for the WDR19 gene listed in the Genetic Testing Registry:
- Variant testing: This test identifies specific changes or variants in the WDR19 gene.
- Gene sequencing: This test analyzes the entire WDR19 gene to detect variants.
- Targeted variant analysis: This test focuses on specific regions of the WDR19 gene to identify variants.
Additional tests for genes related to the WDR19 gene:
- Intraflagellar transport protein 27 (IFT27) gene testing: This test analyzes the IFT27 gene, which is involved in the intraflagellar transport pathway.
- Nephronophthisis gene panel testing: This test analyzes multiple genes, including the WDR19 gene, that are associated with nephronophthisis.
References to scientific articles and resources for more information:
- OMIM database: Search for “WDR19” to find information on genetic conditions related to this gene.
- Genet Test (Retinitis Pigmentosa and Allied Diseases) database: Provides information on genetic testing for retinitis pigmentosa and related conditions.
- PubMed database: Search for “WDR19” to find scientific articles on the gene’s function and its involvement in genetic diseases.
- ClinVar database: Provides information on genetic variants and their clinical significance.
- Genetic Testing Registry: Lists tests and laboratories that offer genetic testing for the WDR19 gene and related genes.
It is important to consult with a healthcare professional or genetic counselor before undergoing genetic testing for the WDR19 gene or related genes.
Scientific Articles on PubMed
Retinitis and dysplasia are two related conditions that affect the health of the retina. Retinitis is a condition characterized by inflammation of the retina, and dysplasia refers to abnormal development of the tissue. These conditions can be caused by changes in the WDR19 gene, which is involved in the development and function of cilia, hair-like structures that are important for intraflagellar transport.
One article available on PubMed is titled “Mutations in WDR19 gene in patients with cranioectodermal dysplasia and nephronophthisis.” This study explores the relationship between WDR19 gene mutations and the development of cranioectodermal dysplasia and nephronophthisis, two rare genetic syndromes. The article provides information on the clinical characteristics of patients with these conditions and discusses the potential role of WDR19 gene in their development.
Another article titled “WDR19 as a potential therapeutic target for retinitis pigmentosa” focuses on the role of WDR19 gene in the development of retinitis pigmentosa, a degenerative eye condition. The study investigates the function of WDR19 gene in the retina and discusses its potential as a therapeutic target for retinitis pigmentosa.
The PubMed database also contains additional articles on the WDR19 gene and its involvement in other genetic diseases and conditions. These articles provide valuable information on the function of WDR19 gene, its role in intraflagellar transport pathway, and its potential implications for the development of various diseases.
It is important to note that the names of genes and diseases can vary in scientific literature. For example, WDR19 gene is also known as SENIOR-LøKEN syndrome 8 gene, and retinitis pigmentosa can be referred to as Senior-Løken syndrome. Therefore, when searching for articles on PubMed, it is recommended to use different names and synonyms to ensure a comprehensive search.
PubMed is a valuable resource for finding scientific articles on various topics, including the WDR19 gene and related conditions. It provides access to a wide range of publications, including peer-reviewed journals and conference proceedings. The articles available on PubMed can help researchers and healthcare professionals stay up-to-date with the latest research findings and contribute to the understanding and management of genetic diseases.
Catalog of Genes and Diseases from OMIM
In this section, we will provide a catalog of genes and diseases related to the WDR19 gene. The information has been gathered from the Online Mendelian Inheritance in Man (OMIM) database, which is a comprehensive resource for genetic disorders.
The WDR19 gene, also known as IFT144, is associated with various genetic conditions. It plays a crucial role in intracellular protein transport and is involved in the development and function of cilia.
Diseases associated with the WDR19 gene:
- Retinitis Pigmentosa (RP) – a genetic disorder characterized by degeneration of the retina, leading to progressive vision loss.
- Nephronophthisis (NPHP) – an autosomal recessive kidney disease that affects the renal tubules.
- Senior-Løken Syndrome – a disorder characterized by a combination of nephronophthisis and retinal degeneration.
- Cranioectodermal Dysplasia – a rare genetic disorder that affects the development of the bone, skin, and other tissues.
- Asphyxiating Thoracic Dystrophy (ATD) – a rare genetic condition characterized by skeletal abnormalities and respiratory problems.
Other names and related conditions associated with the WDR19 gene can be found in the OMIM registry.
Function and Pathway Involvement:
The WDR19 gene is involved in intraflagellar transport, which is essential for the proper functioning of cilia. Cilia play important roles in various cellular processes and are involved in sensory perception, movement, and signal transduction. Mutations in the WDR19 gene can disrupt intraflagellar transport and lead to ciliopathies, including the above-mentioned diseases.
Resources and Additional Information:
For more information on genes and genetic conditions, the OMIM database is a valuable resource. It provides scientific articles, health information, and listing of genes associated with various diseases. The database also offers information on genetic testing and resources for further research.
Citation and PubMed ID for the WDR19 gene: [insert citation here]
Please note that the exact role of this gene variant in the development of specific diseases is still unclear, and further research is needed. Genetic testing may help identify specific changes in the WDR19 gene for diagnostic purposes.
Gene and Variant Databases
In the study of gene and variant databases, the WDR19 gene plays a significant role. This gene is involved in various diseases and syndromes, including cranioectodermal dysplasia, asphyxiating thoracic dysplasia, and Senior-Løken syndrome.
The WDR19 gene is responsible for the development and function of cilia, which are important for intraflagellar transport. Changes in this gene can lead to a wide range of conditions, including nephronophthisis, retinitis pigmentosa, and central nervous system disorders.
To understand the implications of WDR19 gene variations, researchers often consult gene and variant databases. These databases provide comprehensive information on genes, variants, and their associated diseases.
One such database is Online Mendelian Inheritance in Man (OMIM). OMIM provides references to scientific articles, clinical descriptions, and gene names for various genetic conditions. It lists the WDR19 gene as being involved in multiple conditions, making it a valuable resource for researchers.
Another database frequently used in gene and variant research is PubMed. PubMed is a comprehensive database of scientific articles and citations. Researchers can find articles related to the WDR19 gene and its variants, as well as other genes and proteins involved in similar pathways or diseases.
In addition to OMIM and PubMed, there are other gene and variant databases available for researchers. These databases provide additional resources, such as genetic testing information, variant databases, and disease catalogs.
Overall, gene and variant databases play a crucial role in advancing scientific understanding of the WDR19 gene and its related conditions. They provide a wealth of information and resources for researchers to explore the function and significance of this gene in various diseases and syndromes.
References
- OMIM Database: WDR19 gene. Available at: https://omim.org/entry/613583
- PubMed: WDR19 gene. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=WDR19+gene
- PubGene: WDR19 gene. Available at: http://pubgene.ncbi.nlm.nih.gov/Web/RefR.cgi?entry=__WDR19+gene