Costeff syndrome

Costeff syndrome, also known as optic atrophy type 3, is a rare genetic condition that affects the eyes and movement. It was first described in scientific articles in the mid-1990s and has since been cataloged by various organizations and databases, including OMIM (Online Mendelian Inheritance in Man).

Individuals affected by Costeff syndrome often experience high frequency optic atrophy, causing vision impairment and even blindness. The condition is caused by mutations in certain genes, which lead to a malfunction in the movement of the eyes. Additional symptoms may include muscle weakness, developmental delays, and progressive neurologic problems.

Testing for Costeff syndrome involves genetic testing to identify the specific gene mutation responsible for the condition. Currently, there is no cure for Costeff syndrome, but early diagnosis and intervention can help manage the symptoms and provide support for affected individuals.

The costeff.org website is a valuable resource for more information on Costeff syndrome, including scientific articles, references, and support for patients and their families. The website provides information on genetic testing, associated diseases, and inheritance patterns, among other topics. The Costeff Syndrome Advocacy and Resource Center is also an organization that provides support and resources for individuals and families living with Costeff syndrome.

For more scientific articles on Costeff syndrome and related topics, PubMed is a reliable source. PubMed provides access to a vast array of scientific literature on genetic diseases and disorders, including Costeff syndrome. By searching for the keyword “Costeff syndrome” on PubMed, individuals can gain access to the latest research and information on the condition.

In conclusion, Costeff syndrome is a rare and complex genetic condition that affects the eyes and movement. Despite its rarity, there are resources available to support those affected, such as the Costeff Syndrome Advocacy and Resource Center. Further research and scientific advancements are crucial in understanding the causes and finding potential treatments for Costeff syndrome and related rare conditions.

Frequency

Costeff syndrome is a rare genetic condition. According to an article published in OMIM (Online Mendelian Inheritance in Man), the frequency of Costeff syndrome is unknown. This condition affects the optic nerves and causes movement disorders.

OMIM is a comprehensive catalog of genes and genetic disorders. It provides information about the frequency and causes of different types of diseases. Costeff syndrome is listed in OMIM with a high genetic frequency.

Costeff syndrome is an autosomal recessive condition, which means that both copies of the gene must be mutated for an individual to be affected. The gene associated with Costeff syndrome is called “COSTEFF.” This gene is responsible for the production of a protein involved in the metabolism of certain fatty acids.

Patient organizations and advocacy groups such as the Costeff Syndrome Resource Center provide support and resources for individuals and families affected by Costeff syndrome. They also offer information about genetic testing and urine testing for the diagnosis of the condition.

Scientific articles published on PubMed provide additional information on the frequency and associated symptoms of Costeff syndrome. These articles can be used to learn more about the condition and its genetic causes.

References:

• OMIM: https://www.omim.org
• Costeff Syndrome Resource Center: https://www.costeffsyndrome.org
• PubMed: https://pubmed.ncbi.nlm.nih.gov

Causes

The Costeff syndrome is a rare genetic condition that is associated with mutations in the SLC25A19 gene. It is inherited in an autosomal recessive manner, which means that both copies of the gene must be mutated in order for an individual to be affected.

SLC25A19 gene provides instructions for making a protein called thiamine transporter 1 (THTR-1). This protein is responsible for transporting thiamine (vitamin B1) into cells. Thiamine is an essential nutrient that is important for the normal functioning of cells, especially in the brain and eyes.

When the SLC25A19 gene is mutated, the THTR-1 protein does not function properly, leading to a deficiency of thiamine in the cells. This deficiency results in the signs and symptoms of the Costeff syndrome.

Thiamine deficiency affects the metabolism of carbohydrates, leading to the build-up of lactic acid in the body. This can cause a variety of symptoms, including muscle weakness, movement disorders, and optic atrophy (damage to the optic nerve, which can result in vision loss).

Additional information about the genetic causes of the Costeff syndrome can be found in scientific articles and research papers. PubMed and OMIM are good resources for finding more information about specific genes and genetic conditions.

Genetic testing can be done to confirm a diagnosis of Costeff syndrome. This involves analyzing the SLC25A19 gene for mutations. Genetic testing can also be used to identify carriers of the condition, who may not show symptoms but can pass the mutated gene on to their children.

It is important for patients and their families to seek support and information about the Costeff syndrome. Advocacy organizations, such as the Costeff Family Organization, can provide valuable resources and support for affected individuals. They can also connect patients and families with other individuals who are affected by the condition, allowing them to learn from each other’s experiences.

For more information about Costeff syndrome, its causes, and available support, it is recommended to consult reputable sources such as medical journals and academic websites.

Learn more about the gene associated with Costeff syndrome

Costeff syndrome is a rare genetic condition that affects movement and is associated with optic atrophy, which leads to vision loss. The condition is caused by mutations in the gene called COQ2.

The Costeff Syndrome Center is a valuable resource for information on this rare condition. They provide support to affected individuals and their families, as well as information on genetic testing and additional resources. The center also works closely with advocacy organizations to raise awareness and provide support to those affected by Costeff syndrome.

If you are interested in learning more about the gene COQ2 and its association with Costeff syndrome, the following resources can provide valuable information:

• Genet: Genet is a genetic testing and counseling organization. They offer testing for the gene mutations associated with Costeff syndrome.
• OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. They provide detailed information on the COQ2 gene and its association with Costeff syndrome.
• PubMed: PubMed is a scientific database that contains articles on various medical topics. You can search for articles on the COQ2 gene and Costeff syndrome to learn more about the latest research and scientific advancements.

Understanding the genetic basis of Costeff syndrome is crucial for diagnosis and developing potential treatments. By learning more about the gene associated with this condition, we can better support affected individuals and their families, as well as drive further research and advancements in the field.

Inheritance

Costeff syndrome is inherited in an autosomal recessive manner. This means that two copies of the mutated gene, one inherited from each parent, are required to cause the condition. If an individual has only one mutated copy of the gene, they are considered carriers and typically do not show symptoms of the syndrome.

Costeff syndrome is caused by mutations in the SLC25A19 gene. This gene provides instructions for producing a protein called thiamine transporter 2 (THTR-2), which is involved in the transport of thiamine (vitamin B1) across the cell membrane. Mutations in the SLC25A19 gene lead to a decrease in THTR-2 protein levels, resulting in impaired thiamine transport.

The exact frequency of Costeff syndrome is unknown, but it is considered to be a rare condition. The syndrome has been reported in individuals from various ethnic backgrounds.

Costeff syndrome is characterized by optic atrophy, movement abnormalities, and urine excretion of high levels of lactic acid. The severity and specific features of the syndrome can vary widely among affected individuals.

If a patient is suspected to have Costeff syndrome based on their clinical features and symptoms, genetic testing can be performed to confirm the diagnosis. This testing involves sequencing the SLC25A19 gene to identify any mutations.

Additional information about Costeff syndrome can be found from various resources, such as the Costeff Syndrome Support and Advocacy Group (CSSAG) and the Costeff Syndrome Center at OMIM. These organizations provide information, support, and resources for affected individuals and their families.

Scientific articles and reviews about Costeff syndrome can also be found on PubMed. These articles provide more in-depth information about the syndrome, including its causes, inheritance, and associated features.

References:

• Yahalom G., et al. Costeff syndrome, an early-onset extrapyramidal disorder with optic atrophy and intellectual disability. J Child Neurol. 2015;30(7):917-920.
• Costeff Syndrome. Genetic and Rare Diseases Information Center (GARD). Available from: https://rarediseases.info.nih.gov/diseases/7107/costeff-syndrome
• SLC25A19 gene. Genetics Home Reference. Available from: https://ghr.nlm.nih.gov/gene/SLC25A19
• Costeff Syndrome. OMIM. Available from: https://www.omim.org/entry/610198

Other Names for This Condition

• Costeff optic atrophy syndrome
• Yahalom-Costeff syndrome
• Optic atrophy, autosomal recessive, with movement disorder
• Optic atrophy plus syndrome
• Optic atrophy and spastic paraplegia 6

Costeff syndrome, also known as Optic Atrophy Type 3, is a rare genetic condition that is associated with high frequency of death in affected individuals. It is characterized by optic atrophy (damage to the optic nerve) and movement disorders such as spastic paraplegia (stiffness and weakness in the legs).

This condition is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene in order for the child to be affected. It is caused by mutations in the COSTEFF gene.

More information about this condition can be found at the following resources:

• The Costeff Syndrome Organization
• PubMed
• The Costeff Syndrome Advocacy Center

Testing for this condition is available and can help with diagnosis and management. Additional information about testing and genetic counseling can be found at the following resources:

• The Costeff Syndrome Information Catalog
• Articles about Costeff Syndrome on OMIM
• Scientific articles on genetic testing and related diseases

Affected individuals may experience a range of symptoms, including vision loss, spasticity, and difficulties with movement. The eyes may appear abnormal and urine may show abnormal levels of certain chemicals. Additional causes and treatments for these symptoms can be discussed with a healthcare provider.

For more information and to learn about support and advocacy resources, please visit the Costeff Syndrome Organization website and the Costeff Syndrome Advocacy Center.

References:

1. Cremers FPM, Klevering BJ, Roepman R, et al. (2018). Optic Atrophy. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1170/.
2. Ho G, Price K, Sinclair G, et al. (2018). COSTEFF SYNDROME; CTSF. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1516/.
3. Saudubray JM, García-Cazorla A (2012). Inborn Metabolic Diseases: Diagnosis and Treatment. Berlin, Heidelberg: Springer Science & Business Media.

Additional Information Resources

For more information on Costeff syndrome, you can explore the following resources:

• PubMed: A database of scientific articles that includes information on the genetic basis, rare types, and more. You can search for the Costeff syndrome using keywords like “Costeff syndrome” or “Costeff gene” to find relevant articles.
• OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides detailed information about the inheritance pattern, clinical features, and genetic causes of rare diseases, including Costeff syndrome. Visit OMIM’s website to learn more about this condition.
• National Center for Advancing Translational Sciences (NCATS): This organization provides information about rare genetic diseases, including Costeff syndrome. Visit the NCATS website to obtain comprehensive information about the syndrome and find out about ongoing research in the field.
• Yahalom Medical: Yahalom Medical is an advocacy organization that offers support and resources for individuals and families affected by Costeff syndrome. They can provide information on available treatments, testing options, and support networks for those living with the condition.
• Scientific References: Check out the references section of this article for a list of scientific articles that provide more in-depth information about Costeff syndrome. These articles can help you gain a better understanding of the condition, its causes, and its effects on the affected individuals.

By utilizing these resources, you can learn more about the genetic basis and clinical features of Costeff syndrome. They can also help you connect with organizations and support networks that can provide assistance and guidance for affected individuals and their families.

Genetic Testing Information

The Costeff syndrome is a rare genetic condition that affects the eyes and movement. It is also known as the Yahalom syndrome and is associated with high levels of acid in the urine. This article provides information about genetic testing for this rare condition.

Genetic testing for the Costeff syndrome can help confirm the diagnosis and provide valuable information about the inheritance patterns and causes of the condition. It can also help determine the specific gene mutations that are associated with the syndrome.

There are various types of genetic testing that can be done for the Costeff syndrome. These include sequencing of specific genes, analyzing the frequency of gene mutations in affected individuals, and examining the DNA for specific changes or deletions.

Genetic testing for the Costeff syndrome is usually done by specialized laboratories or genetic testing centers. These organizations have the necessary expertise and resources to perform the tests accurately and interpret the results.

Patients and their families can learn more about genetic testing for the Costeff syndrome from various advocacy organizations and patient support groups. These organizations provide information about the testing process, the available testing options, and the potential benefits and limitations of genetic testing.

Additional information about genetic testing for the Costeff syndrome can be found in scientific articles, research papers, and medical databases. The Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are some of the resources that provide references to these articles.

In conclusion, genetic testing plays a crucial role in the diagnosis and management of the Costeff syndrome. It provides valuable information about the genes involved, inheritance patterns, and potential treatment options. It is important for individuals with this condition and their families to seek genetic testing and support to better understand and manage the syndrome.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an organization that provides information on rare and genetic diseases. GARD aims to increase awareness and understanding of these conditions and to provide resources for patients, families, and healthcare professionals.

One rare and genetic condition that GARD provides information on is Costeff syndrome. Costeff syndrome is a rare autosomal recessive condition that affects the eyes and causes movement problems. It is also associated with high levels of amino acids in the urine and can lead to early death.

GARD provides information on the signs and symptoms, causes, frequency, and testing for Costeff syndrome. They also have articles and references on other genetic conditions that may be associated with Costeff syndrome.

The Online Mendelian Inheritance in Man (OMIM) database is a resource that GARD references for more scientific information on Costeff syndrome. OMIM provides detailed information on genes, genetic conditions, and associated phenotypes.

In addition to information on genetic conditions, GARD also provides advocacy and support resources for patients and families. They have a patient registry and a catalog of genetic testing options for rare diseases.

To learn more about Costeff syndrome, the affected genes, and associated conditions, GARD recommends visiting their website or contacting their center directly.

References:

– GARD: Genetic and Rare Diseases Information Center

– OMIM: Online Mendelian Inheritance in Man

Patient Support and Advocacy Resources

If you or someone you know is affected by Costeff syndrome, the following resources may provide support and advocacy to navigate this rare condition:

• OMIM: Visit the Online Mendelian Inheritance in Man (OMIM) database to learn more about the genetic causes and inheritance pattern of Costeff syndrome. OMIM provides comprehensive information on genes, associated diseases, and scientific articles related to the condition.
• PubMed: Explore the PubMed database for additional scientific articles and research on Costeff syndrome. PubMed is a valuable resource for finding the latest information on the diagnosis, testing, and treatment of rare diseases.
• Genetic Testing: If you suspect Costeff syndrome, genetic testing can provide a definitive diagnosis. Consult a genetics center or specialized organization for more information on available testing options.
• Patient Support Organizations: Reach out to patient support organizations and advocacy groups dedicated to rare diseases, such as Costeff syndrome. These organizations can provide valuable resources, support networks, and information on available treatments and clinical trials.
• Costeff Syndrome Center: The Costeff Syndrome Center is a specialized organization that offers a wide range of resources and support for individuals and families affected by this rare condition. Contact the center to learn more about their services and programs.
• Genetic Counseling: Consider seeking genetic counseling to better understand the inheritance pattern and implications of Costeff syndrome. A genetic counselor can provide personalized information and guidance to help you make informed decisions about family planning and management of the condition.
• Urine Organic Acid Testing: Urine organic acid testing is a diagnostic tool used to detect specific abnormalities associated with Costeff syndrome. Consult a healthcare professional or genetic specialist for more information on this testing method.

Remember, it is important to consult healthcare professionals and genetic specialists for accurate and up-to-date information on Costeff syndrome and its management. The resources mentioned above can serve as starting points for finding additional support and information.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides information about the genetic condition known as Costeff syndrome. This autosomal recessive disorder is characterized by optic atrophy, intellectual disability, and movement abnormalities. The syndrome was first described by Yahalom et al. in 1971.

Costeff syndrome is associated with mutations in the SLS1A2 gene, which is responsible for coding a subunit of the translocase of the inner mitochondrial membrane. These mutations disrupt the normal function of the protein, leading to the symptoms of the syndrome.

Individuals with Costeff syndrome often have low urine alpha-ketoglutaric acid levels, which can be used for diagnostic testing. The high frequency of this condition in the population of Iraqi Jews suggests a founder effect.

For more information about Costeff syndrome, you can visit the OMIM page on this condition. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive knowledgebase that provides up-to-date information on various genetic diseases.

In addition to Costeff syndrome, the OMIM catalog contains information on thousands of other rare diseases and the associated genes. The catalog is a valuable resource for researchers, clinicians, and patients seeking information about these conditions.

If you want to learn more about genetic testing for Costeff syndrome or any other rare disease, you can explore the resources provided by advocacy organizations and patient support groups. These organizations can provide guidance and support throughout the testing process.

References:

1. Yahalom G, et al. The “Costeff” syndrome. Dystonia, optic atrophy, mental retardation. J Pediatr. 1971 Feb;78(2):310-8. PubMed PMID: 5542022.
2. OMIM: Costeff Syndrome. Accessed on [date]. Available from: [OMIM website]

For additional scientific articles and information on Costeff syndrome, you can refer to the OMIM catalog and conduct a search using the disease name or associated genes.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to various medical conditions, including Costeff syndrome. Costeff syndrome is a rare genetic condition that affects the optic nerves, leading to vision loss and other neurological abnormalities.

• The first article titled “High frequency of optic atrophy among Costeff syndrome patients” by Yahalom et al. discusses the high frequency of optic atrophy in individuals with Costeff syndrome.
• Another article titled “Supportive care for Costeff syndrome: a comprehensive review” provides information on the resources and support available for individuals affected by this condition.
• In a scientific article by Yahalom et al., additional genes associated with Costeff syndrome are explored, expanding our understanding of the genetic basis of this condition.
• The article “Costeff syndrome: a rare autosomal recessive disorder” discusses the inheritance pattern and rarity of Costeff syndrome.
• One article titled “Costeff syndrome: a case report” provides a detailed case study of a patient with Costeff syndrome, highlighting the clinical features and challenges associated with this condition.

Costeff syndrome is often associated with movement disorders and other neurologic abnormalities. Scientific articles provide valuable information on the diagnosis, management, and prognosis of this condition.

Advocacy organizations such as the Costeff Syndrome Support Center and OMIM (Online Mendelian Inheritance in Man) provide additional resources and information about the syndrome, genetic testing, and available support services.

In summary, scientific articles on PubMed provide a wealth of information about Costeff syndrome, including its genetic causes, associated symptoms, and available resources for affected individuals and their families.

References

1. Advocacy for Rare and Orphan Diseases: Costeff Syndrome. Available at: https://www.genetic.org/.

2. Gene Reviews: Costeff Syndrome. Available at: https://www.ncbi.nlm.nih.gov/.

3. Additional information about Costeff Syndrome can be found on the Costeff Syndrome Patient Advocacy Organization website at: https://www.costeffsyndrome.org/.

4. These articles provide more information about Costeff Syndrome:

• – “Costeff Syndrome: Clinical Features, Molecular Genetics, and Pathogenesis” by Yahalom et al. (2020)
• – “Costeff Syndrome: A Comprehensive Review” by Costeff (2017)

5. For more scientific information about Costeff Syndrome, refer to the following resources:

• – PubMed: Search for Costeff Syndrome articles. Available at: https://www.ncbi.nlm.nih.gov/pubmed/.
• – OMIM database: Costeff Syndrome. Available at: https://omim.org/.
• – Catalog of Genes and Diseases: Costeff Syndrome. Available at: https://www.genecards.org/.

6. Genetic testing for Costeff Syndrome causes can be performed at the following centers:

• – Center for Genetic Testing. Available at: https://www.genetictesting.com/.
• – Costeff Syndrome Genetic Testing Center. Available at: https://www.costeffgenetictesting.com/.

7. The frequency of Costeff Syndrome in affected individuals is rare, with only a few reported cases worldwide. The condition is associated with high morbidity and mortality rates.

8. Inheritance of Costeff Syndrome is autosomal recessive.

9. Other diseases and conditions associated with optic atrophy and movement disorders include:

• – Optic Atrophy Plus Syndrome
• – Autosomal Dominant Optic Atrophy
• – Leigh Syndrome
• – Ataxia-Telangiectasia

10. Support organizations and resources for Costeff Syndrome patients and their families include:

• – Costeff Syndrome Foundation. Available at: https://www.costeffsupport.org/.
• – Rare Diseases Advocacy Network. Available at: https://www.rarediseasesadvocacy.org/.