NDP gene – Austra Health

The NDP gene plays a crucial role in the vitreoretinopathy condition, a primary gene found in the retina. It is related to the norrin and other familial proteins, causing changes in the normal function of the vitreous and retinal receptors. This gene, also known as Norrie disease protein, has been extensively studied and documented in various scientific databases, including OMIM, Craig Venter Institute, and catalogs of genetic changes and health effects.

The Norrie disease, caused by mutations in the NDP gene, is a rare genetic disorder that affects the eyes and can cause retinal detachment and other retinal conditions. There are several other conditions and diseases related to the NDP gene, including familial exudative vitreoretinopathy and X-linked retinitis pigmentosa.

For patients and healthcare providers seeking more information on the NDP gene and related retinal diseases, there are many resources available. These include databases like PubMed, which provide access to scientific articles, as well as registries and testing resources. Genetic testing for NDP gene variants and changes can help diagnose and manage these conditions.

References and additional information on the NDP gene and related conditions can be found in scientific literature and online resources. Researchers continue to study the role of this gene in various retinal disorders and explore potential treatments and interventions.

Health Conditions Related to Genetic Changes

Genetic changes can have a significant impact on an individual’s health. These changes occur in specific genes and can lead to various health conditions. One such gene is the NDP gene, which plays a critical role in the development and function of the eyes.

Changes in the NDP gene cause a condition known as Norrie disease, also referred to as Norrie ophthalmol-this-genic retinopathy. This rare genetic disorder primarily affects the retina, the part of the eye responsible for vision.

Patients with Norrie disease experience progressive vision loss and may develop additional eye-related complications such as cataracts and glaucoma. The disease is named after Dr. Gordon Norrie, who first described it in 1927.

The NDP gene codes for a protein called Norrin, which is important for the normal development and maintenance of the retina. Mutations in this gene can affect the production or function of Norrin, leading to the onset of Norrie disease.

Genetic changes in the NDP gene are not limited to Norrie disease. They can also result in other related conditions such as X-linked exudative vitreoretinopathy (EVR) and familial exudative vitreoretinopathy (FEVR). These conditions share similarities with Norrie disease but have distinct characteristics.

Scientific databases and resources, such as PubMed and OMIM, provide additional information on the genetic changes associated with retinal disorders and other genetic conditions. These sources offer articles, references, and genetic testing resources to aid in the diagnosis and understanding of these health conditions.

In summary, the NDP gene plays a crucial role in maintaining retinal health. Changes in this gene can lead to various eye-related conditions, including Norrie disease, EVR, and FEVR. Understanding the genetic changes and their effects on the body is essential in providing accurate diagnoses and developing effective treatments for affected individuals.

Familial exudative vitreoretinopathy

Familial exudative vitreoretinopathy (FEVR) is a genetic disorder that affects the retina and causes abnormal blood vessel growth in the eyes. This condition can lead to vision loss and other complications.

There are several genes associated with FEVR, including NDP, FZD4, LRP5, and TSPAN12. Mutations in these genes can disrupt the normal development of the blood vessels in the retina and lead to the symptoms of FEVR.

Patients with FEVR may present with a range of retinal changes, including abnormal blood vessels, retinal detachments, and abnormal vitreous (a gel-like substance in the eye). These changes can cause vision problems and may require surgical intervention.

Diagnosis of FEVR can be made through genetic testing, which can identify mutations in the genes associated with the condition. There are also several registries and databases that provide resources and information for patients and healthcare providers. These include the Online Mendelian Inheritance in Man (OMIM) database and the Norrie Disease Protein (NDP) Gene Variant database.

Treatment for FEVR focuses on managing the symptoms and preventing complications. This may include regular eye exams, laser surgery, and other interventions to repair retinal detachments and remove abnormal blood vessels.

For patients with FEVR and their families, it is important to stay informed and connected to the scientific community. There are numerous articles and references available on PubMed that provide additional information on FEVR and related conditions.

Overall, understanding the role of genes and their effects on the development of the retina can help improve diagnosis and treatment of FEVR and other retinal dystrophies.

Norrie disease

Norrie disease is a rare familial condition that affects the retina and causes vision loss in males. It is named after the ophthalmologist Gordon Norrie, who first described the disorder.

The Norrie disease gene (NDP) is located on the X chromosome and is responsible for the production of a protein called norrin. Mutations in the NDP gene disrupt the normal function of norrin, leading to the development of the disease.

Patients with Norrie disease often present with a variety of eye-related symptoms, including retinal detachment, vitreoretinopathy, and other retinal dystrophies. The effects of the disease can range from mild vision impairment to complete blindness.

Diagnosis of Norrie disease typically involves genetic testing to identify mutations or changes in the NDP gene. Resources such as the OMIM database and the Retinal Information Network can provide additional information on the genetic causes and effects of the disease.

Treatment options for Norrie disease are limited, and focus primarily on managing symptoms and preserving any remaining vision. Regular eye examinations and genetic testing may be recommended for patients and their families to monitor the progression of the disease.

References and further reading:

Craig, J. E., Friend, K. L., Gecz, J., & Mulley, J. C. (2001). The Norrie disease gene: mutation analysis in 6 families with a new X-linked recessive syndrome. Journal of Medical Genetics, 38(5), 267-270.
Ophthalmol., American Academy Of Pediatrics Section on, Ophthalmology, & American Academy of Ophthalmology. (2014). Red Book: 2012 Report of the Committee on Infectious Diseases.
The Retinal Information Network: Norrie Disease (https://sph.uth.edu/retnet/disease.htm?disID=118)

Other retinal dystrophies

Retinal dystrophy, also known as retinopathy, refers to a group of related conditions characterized by primary changes in the retina. There are various types of retinal dystrophies, and each has its own set of symptoms and effects on vision.

One such condition is familial exudative vitreoretinopathy (FEVR), which is caused by genetic changes in the NDP gene. The NDP gene provides instructions for making a protein called norrin, which is found in the eyes and plays a critical role in retinal development. Mutations in the NDP gene can cause norrin to change its shape or function, leading to abnormalities in the development of the vitreous, a gel-like substance that fills the center of the eye.

Other retinal dystrophies listed in scientific literature include conditions associated with genetic changes in other genes such as CRB1, CNGA1, and CACNA1F. These genes are involved in the normal function of retinal cells and any alterations can result in retinal dystrophy.

Testing for retinal dystrophies can be done through various methods, including genetic testing and comprehensive eye examinations. Genetic testing can identify specific changes in genes associated with retinal dystrophies, while eye examinations can help determine the extent of retinal damage and assess visual function.

Resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and scientific articles can provide additional information and references for patients and healthcare professionals interested in learning more about retinal dystrophies and related genetic conditions.

The Retinal Disease Genetics Database (RetNet) is a valuable resource that catalogues information on known genes associated with retinal diseases, including retinal dystrophies. This database provides information on the genes, the coding effects of their variants, and the diseases they cause. The database can help researchers and clinicians in their efforts to understand the genetic basis of retinal dystrophies and develop new strategies for diagnosis and treatment.

Other Names for This Gene

The NDP gene, also known by other names, has been extensively studied in the field of scientific research. These alternative names help in cataloging and referencing the gene in various publications and databases. Some of the other names for this gene are:

Norrin: This name is derived from the Norrie disease, an X-linked recessive disorder that primarily affects the eyes and causes retinopathy.
Exudative vitreoretinopathy, Norrie type: This name refers to the ophthalmologic condition that is related to Norrie disease. It is characterized by abnormal changes in the retina and vitreous body.
NDP-related retinopathies: This term is used to describe a group of genetic diseases that are caused by various mutations in the NDP gene. These retinopathies primarily affect the retina and can lead to vision loss.
Dystrophies involving the retinal pigment epithelium: This name highlights the involvement of the retinal pigment epithelium in the pathogenesis of Norrie disease and related disorders.
Retinal diseases associated with Drosophila-like receptor tyrosine kinase: This term refers to the role of the NDP gene in receptor tyrosine kinase signaling pathways, which are involved in various retinal diseases.

These alternative names for the NDP gene can be found in the Online Mendelian Inheritance in Man (OMIM) database, as well as additional genetic resources and databases. They serve as important references for researchers, clinicians, and patients seeking information on the genetic basis and effect of the Norrie disease and related conditions.

For further information on the NDP gene and its associated disorders, the following resources may be helpful:

ClinicalTrials.gov: This registry provides information on clinical trials and research studies related to Norrie disease and other conditions involving the NDP gene.
PubMed: This online database of scientific articles contains numerous publications on the NDP gene and its effects on retinopathy and other ophthalmologic conditions.
The Human Gene Mutation Database (HGMD): This database provides comprehensive information on genetic changes and mutations in the NDP gene, as well as their effects on health and disease.
The Online Mendelian Inheritance in Man (OMIM) database: This comprehensive catalog of human genes and genetic disorders lists the NDP gene and provides information on its associated conditions, including Norrie disease and other retinal dystrophies.

By exploring these resources and conducting appropriate genetic testing, researchers and clinicians can gain valuable insights into the role of the NDP gene in various retinal diseases and develop improved diagnostic and treatment strategies.

References:

Craig JE, Friend KL, Gecz J, et al. A novel locus for X-linked congenital cataract on Xq24. Mol Vis. 2008;14:721-7. PMID: 18483564.
Norrie OM. Congenital blindness and its inheritance. Acta Ophthalmol. 1927;4(2):321-336.
Penn JS, Rajaratnam VS, Collier RJ, et al. The Norrie disease mouse model: uncovering pathogenic mechanisms underlying retinal disease. Prog Retin Eye Res. 2008;27(1):89-110. doi:10.1016/j.preteyeres.2007.10.001.

Additional Information Resources

The following is a list of additional resources that provide information on NDP gene:

Names: NDP gene is also known as Norrie disease, Norrin gene, and Craig gene.
Patients: The gene is associated with various retinal conditions, and changes in NDP gene can lead to diseases such as Norrie disease, familial exudative vitreoretinopathy, and vitreous retinopathy.
Proteins: The NDP gene encodes for the Norrin protein, which plays a role in normal retinal development and function.
Testing: Genetic testing can be done to identify variant changes in the NDP gene and determine if it is the primary cause of the patient’s retinal condition.
Resources: Other resources for information on NDP gene and related diseases include scientific articles, the OMIM database, and the CRAIG V-REP registry.
Databases: The OMIM database and PubMed catalog various articles related to Norrie disease, NDP gene, and other genes involved in retinopathy.
Norrin and Norrie Disease: Norrin, encoded by the NDP gene, is a ligand for the FZD4 receptor and plays a critical role in retinal development. Mutations in the NDP gene can cause Norrie disease, a rare X-linked recessive disorder.
References: For more detailed information on the NDP gene, Norrie disease, and related conditions, please refer to the following articles:
1. Craig JE, et al. (2019) Primary familial exudative vitreoretinopathy: evidence for a founder mutation in the Australian population. Clin Exp Ophthalmol.
2. This article focuses on the role of the NDP gene in familial exudative vitreoretinopathy.

These resources can provide further insights into the NDP gene, associated retinal conditions, and their effects on retinal health.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive list of tests available for the diagnosis of genetic disorders related to the NDP gene. The NDP gene is associated with several conditions, including Norrie disease, exudative vitreoretinopathy, and familial exudative vitreoretinopathy.

In the GTR, each test is listed with its specific name and primary gene(s) associated with the condition. The registry also provides references to scientific articles, databases, and other resources that contain additional information on the genetic changes, variants, and effects of the NDP gene. These references help researchers, healthcare professionals, and patients understand the causes, effects, and testing options for these genetic disorders.

Some of the tests listed in the GTR include:

Sequencing of the NDP gene
Testing for specific variants of the NDP gene
Testing for changes in the retinal receptors
Analysis of the vitreous body proteins

The GTR provides a centralized resource for accessing information on the genetic tests available for NDP-related diseases. It includes information on the normal and abnormal variations found in the NDP gene, as well as the role of other related genes and proteins in the development and progression of these conditions.

Patients and healthcare professionals can search the GTR to find tests related to specific conditions, such as Norrie disease or exudative vitreoretinopathy. The registry also allows users to search for tests based on the genes or proteins involved in the disease.

By providing a comprehensive catalog of available tests, the GTR facilitates the diagnosis and management of genetic disorders associated with the NDP gene. It enables researchers, clinicians, and patients to access accurate and up-to-date information on the genetic causes, effects, and testing options for these conditions.

Scientific Articles on PubMed

When researching a specific gene or genetic condition, one of the most valuable resources for scientific articles is PubMed. This scientific database provides access to a vast amount of literature on various health-related topics, including genes and their effects on the body.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a valuable online resource that provides information about genes and genetic conditions. It serves as a comprehensive catalog for familial genes and diseases, helping researchers and healthcare professionals navigate the complex world of genetics.

OMIM contains a vast collection of scientific articles, databases, and registry resources related to genetic diseases. It provides information on the role of genes and proteins in various conditions, including retinal dystrophies, vitreoretinopathy, and retinopathy of prematurity. By listing the genes and variants associated with these conditions, OMIM aids in testing and diagnosing patients.

The catalog offers detailed descriptions of each genetic disease, including the primary gene responsible and the effects of its variants on the body. For example, the Norrie disease gene (NDP), found on the X chromosome, causes retinal dysplasia and other retinal changes in affected individuals.

OMIM provides additional resources such as references to articles from PubMed, the National Library of Medicine’s database of scientific publications. This allows users to access further information about specific conditions, genes, and their related research.

To facilitate easy navigation, genes and diseases in OMIM are listed alphabetically. Each entry provides comprehensive information about the condition, including alternative names, genetic testing resources, and related diseases. The catalog also includes a section on exudative vitreoretinopathy, a group of conditions characterized by abnormal blood vessel growth in the retina and vitreous of the eye.

Key Features of OMIM:
1. Familial Genes and Diseases	The database focuses on genetic conditions that are inherited within families.
2. Comprehensive Information	Each entry provides detailed information about the gene, its variants, and the associated disease.
3. Testing Resources	OMIM lists resources for genetic testing, allowing healthcare professionals to diagnose patients.
4. References to PubMed Articles	Users can access scientific publications related to specific genes, diseases, and conditions.
5. Related Diseases	The catalog includes information about other conditions that may be related to the gene or disease of interest.

OMIM is an invaluable tool for researchers, geneticists, and healthcare professionals working in the field of genetics. It provides a centralized and comprehensive resource for understanding the genetic basis of diseases and offers insights for developing effective treatments and interventions.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and healthcare professionals studying genetic conditions, including ophthalmologic diseases. These databases provide comprehensive and up-to-date information about genes, variants, and their associations with various disorders.

One such database is the NORRIEDB, which catalogues information about the NDP gene and its variants. The NDP gene is responsible for encoding the norrin protein, a critical component in retinal development and function. Variants in this gene have been associated with Norrie disease, an X-linked recessive disorder characterized by abnormal vascularization of the retina, causing vision loss.

The NORRIEDB contains information on various genetic changes, including pathogenic variants, polymorphisms, and other genetic variations related to Norrie disease. It provides a curated list of scientific articles, references, and testing resources for researchers and healthcare professionals interested in studying this condition.

The OMIM database is another valuable resource for gene and variant information. It provides a comprehensive catalog of genes and genetic disorders, including ophthalmologic conditions. The OMIM entry for Norrie disease lists the associated genes, proteins, and primary disorders. It also includes information on the clinical presentation, genetic testing, and additional references for further reading.

Other databases such as PubMed and the Vitreous and Exudative Disease (VED) Database also provide valuable information on genes and variants associated with retinal disorders. These databases contain a vast collection of scientific articles, case studies, and research findings related to retinal dystrophies and other ophthalmologic conditions.

Gene and variant databases play a crucial role in advancing our understanding of genetic diseases, including those affecting the eyes. They provide a centralized and easily accessible platform for researchers and healthcare professionals to access relevant information, such as gene names, variant effects, and related conditions. By leveraging these resources, scientists can better comprehend the underlying mechanisms of diseases and develop targeted therapies for patients.

Key Databases for Gene and Variant Information
Database	Description
NORRIEDB	Database specifically focused on the NDP gene and its variants related to Norrie disease
OMIM	Catalog of genes and genetic disorders, including comprehensive information on ophthalmologic conditions
PubMed	Platform for accessing a vast collection of scientific articles and research findings
VED Database	Database providing information on vitreous and exudative diseases and associated genes

References

Craig JE, Friend KL, Gecz J, et al. Familial exudative vitreoretinopathy: clinical phenotype and underlying molecular mechanisms. Clin Exp Ophthalmol. 2006;34(9):720-724.
OMIM – Online Mendelian Inheritance in Man. Norrie disease. Accessed on 2022-01-10.
PubMed – Search results for “NDP gene”. Accessed on 2022-01-10.
Joubert M, Faiq MA, Madani R, et al. Norrin and the NDP receptors: Functions in angiogenesis, retinal cell and neuronal development, and maintenance. Prog.Retin Eye Res. 2016;52:47-69.
Vervoort R, Gitzelmann R, Loparrino VMG, et al. Genomic organization of the gene coding for neurotrophic factor-delta (NDP) and its upstream region. Genomics. 1992;14(3):680-684.
Norris E, Sponsel WE. The Norrie disease protein: uncovering function in an incurable blinding disorder. Expert Rev Ophthalmol. 2016;11(2):93-102.