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GRACILE syndrome, also known as growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death syndrome, is a rare genetic condition. It was initially described in 1994 and is characterized by growth failure, liver dysfunction, lactic acidosis, and early death. The name GRACILE is an acronym created from the main clinical features of the syndrome.

This condition is inherited in an autosomal recessive manner, which means that both parents must carry a mutation in the GRACILE gene for the child to be affected. The syndrome is caused by mutations in the BCS1L gene, which plays a crucial role in the assembly of mitochondrial respiratory chain complex III. This defect leads to impaired energy production, leading to the symptoms observed in GRACILE syndrome.

GRACILE syndrome typically presents in infants, with symptoms appearing within the first few days to months of life. Infants with this syndrome experience failure to thrive, feeding difficulties, jaundice, and liver dysfunction. They may also have abnormalities in the levels of amino acids and other substances in the blood and urine. As the disease progresses, affected individuals often develop lactic acidosis, which can be fatal if left untreated.

Due to its rarity, there is limited information available about GRACILE syndrome. Scientific articles and resources about the syndrome can be found in databases such as PubMed and OMIM. Genetic testing is available to confirm the diagnosis. Early diagnosis and appropriate management are crucial for improving the prognosis and outcomes for individuals with GRACILE syndrome. Genetic counseling and support resources are available for affected individuals and their families.

In conclusion, GRACILE syndrome is a rare genetic condition that affects infants and is characterized by growth failure, liver dysfunction, lactic acidosis, and early death. It is caused by mutations in the BCS1L gene, leading to impaired energy production. More research and information about this syndrome are needed to better understand its causes and develop effective treatments.

Frequency

GRACILE syndrome is a rare autosomal recessive condition that primarily affects infants. It is estimated to occur in approximately 1 in 47,000 to 1 in 75,000 live births.

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GRACILE syndrome is classified under a group of other mitochondrial disorders, which are also rare. These disorders include conditions such as Leigh syndrome and other genetic diseases that are associated with lactic acidosis.

The frequency of GRACILE syndrome can vary within different populations, but it is generally considered to be a rare condition. Due to its rarity, it is often misdiagnosed or undiagnosed, leading to delays in testing and proper treatment.

Additional references and leads for more information on the frequency and testing of GRACILE syndrome include scientific articles published in PubMed, the Online Mendelian Inheritance in Man (OMIM) database, and the GRACILE Syndrome Patient Advocacy Center.

Testing for GRACILE syndrome usually involves genetic testing to identify mutations in specific genes associated with the condition. This type of testing can help confirm a diagnosis and provide information about the inheritance pattern of the condition.

It is important for healthcare professionals to learn about GRACILE syndrome and consider it as a possible diagnosis before ordering testing. This can help ensure early detection and intervention for affected infants.

For more information and resources about GRACILE syndrome, genetic testing, and support for patients and families, there are several organizations and websites that provide information and support. These include the GRACILE Syndrome Patient Advocacy Center, the Genetic and Rare Diseases Information Center, and the National Organization for Rare Disorders.

Causes

The exact cause of GRACILE syndrome is currently not known. However, researchers have identified several genetic mutations that are thought to be associated with the development of this rare syndrome.

GRACILE syndrome is typically caused by mutations in the BCS1L gene. This gene provides instructions for making a protein that is involved in the assembly of mitochondria, the energy-producing structures within cells. Mutations in the BCS1L gene disrupt the normal functioning of mitochondria, leading to the signs and symptoms of GRACILE syndrome.

There may be additional genes that have not yet been discovered that contribute to the development of GRACILE syndrome. Further genetic testing is needed to support this hypothesis.

For more information about the genetic causes of GRACILE syndrome, you can refer to the OMIM database. OMIM is a comprehensive catalog of human genes and genetic disorders. You can find associated references, scientific articles, and additional resources on this rare genetic syndrome.

Inheritance of GRACILE syndrome is autosomal recessive, meaning that both copies of the BCS1L gene in each cell have mutations. Individuals with only one mutated copy of the gene are known as carriers and typically do not show any signs or symptoms of the condition.

See also  TBX1 gene

Genetic testing can be used to confirm a diagnosis of GRACILE syndrome. This type of testing analyzes an individual’s DNA to detect mutations in the BCS1L gene. However, the cost of genetic testing and the frequency of mutations in the BCS1L gene in the general population are currently unknown.

Before genetic testing, infants with symptoms suggestive of GRACILE syndrome may undergo other tests such as lactic acid measurement and muscle biopsies to help identify the underlying cause of their symptoms.

Advocacy groups and patient support organizations can provide valuable information and resources on GRACILE syndrome. They can also connect individuals affected by the condition to others with similar experiences.

Learn more about the gene associated with GRACILE syndrome

GRACILE syndrome is a rare genetic condition that affects infants. The name “GRACILE” stands for “growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death.” This condition is caused by mutations in the BCS1L gene. Mutations in this gene disrupt the function of certain proteins involved in energy production, leading to the symptoms observed in GRACILE syndrome.

For more information on GRACILE syndrome, including its causes, symptoms, and inheritance pattern, you can refer to the OMIM catalog. OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive resource that provides information on genetic diseases. It includes articles, scientific references, and patient support resources related to GRACILE syndrome.

Testing for GRACILE syndrome can be done through genetic testing, which examines the BCS1L gene for mutations. The frequency of this condition in the general population is low, so testing is typically recommended for infants with suspected symptoms or a family history of GRACILE syndrome.

If you suspect your child may have GRACILE syndrome, it is important to consult with a healthcare provider before pursuing testing. They can provide you with additional information and guidance on the best course of action.

GRACILE syndrome is associated with lactic acidosis, a condition characterized by high levels of lactic acid in the blood. Lactic acidosis can lead to various symptoms, including muscle weakness, fatigue, and difficulty breathing. If your child is experiencing these symptoms, it is important to seek medical attention.

Overall, learning more about the gene associated with GRACILE syndrome can help shed light on the causes and mechanisms of this rare condition. It can also lead to improved diagnosis and management strategies, as well as potential avenues for future research and treatment development.

Inheritance

GRACILE syndrome is a rare genetic condition that is typically inherited in an autosomal recessive manner. This means that both parents of a patient with GRACILE syndrome are carriers of the genetic mutation that causes the condition. The frequency of GRACILE syndrome is unknown, but it is considered to be a rare condition.

Scientific research has identified several genes that can cause GRACILE syndrome. The most commonly mutated gene associated with this condition is the BCS1L gene. Mutations in this gene lead to abnormal mitochondrial function, resulting in the characteristic symptoms of GRACILE syndrome.

Genetic testing can be done to confirm a diagnosis of GRACILE syndrome. Testing for mutations in the BCS1L gene can be done using a variety of methods, including targeted gene sequencing or whole-exome sequencing. Identifying the causative mutation in an individual with GRACILE syndrome can provide important information about the underlying genetic causes of the condition.

More information about the inheritance of GRACILE syndrome can be found in scientific articles and resources such as PubMed and OMIM. These resources provide references to publications that discuss the genetic basis and inheritance patterns of the condition.

In addition to scientific resources, there are also advocacy and support organizations for rare genetic diseases like GRACILE syndrome. These organizations can provide resources and support for patients and families affected by this condition. They may also provide information on genetic testing and other diagnostic tools.

Overall, GRACILE syndrome is a rare genetic condition that is typically inherited in an autosomal recessive manner. Mutations in the BCS1L gene are often associated with this condition. Genetic testing can provide important information about the underlying genetic causes of GRACILE syndrome, and resources such as PubMed and OMIM can provide additional information about the inheritance and other associated genes.

Other Names for This Condition

GRACILE syndrome is also known by several other names:

  • Costeff syndrome
  • Coster syndrome
  • Infancy-onset ophthalmoplegia, neurogenic, progressive, with marfanoid habitus
  • Inherited lactic acidosis and rickets
  • Lactic acidosis, infantile, with cerebral involvement, and growth hormone deficiency
  • Lactic acidosis, saguenay-Lac-St. Jean type
  • Muscle-eye-brain disease
  • Rickets, vit D dependent, type 3

These are all different names that have been used to describe the same condition.

GRACILE syndrome is a rare genetic condition that typically presents in infancy. It is associated with a mutation in the BCS1L gene, which leads to impaired mitochondrial function. This results in a variety of symptoms, including growth retardation, hepatopathy, renal tubular dysfunction, and muscle weakness.

To learn more about GRACILE syndrome and its causes, inheritance pattern, and associated genes, you can refer to scientific articles and resources such as PubMed, OMIM, and genetic disease advocacy and support centers. These sources provide more information on the frequency of the condition, genetic testing, patient support resources, and references to related articles.

See also  TMEM70 gene

Additional Information Resources

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and genetic diseases. You can learn more about GRACILE syndrome and its associated genes by searching for the condition or specific genes on OMIM.

  • PubMed: PubMed is a database of scientific articles and publications. It can be a valuable resource for finding articles about GRACILE syndrome, its causes, inheritance patterns, and more.

  • Genetic Testing: Genetic testing can help confirm a diagnosis of GRACILE syndrome in patients. If you are interested in genetic testing for yourself or a family member, speak with your healthcare provider or a genetic counselor for more information.

  • Support and Advocacy: Support and advocacy groups can provide additional information and resources for individuals and families affected by GRACILE syndrome. They may offer support groups, educational materials, and connections to other families facing similar challenges.

Genetic Testing Information

Genetic testing for GRACILE syndrome can provide valuable information about the genetic changes associated with this rare condition. This testing is typically done through a laboratory that specializes in genetic testing.

The cost of genetic testing can vary depending on the specific test being performed and the laboratory conducting the test. It is important to check with insurance providers to determine if they cover the cost of genetic testing.

Genetic testing for GRACILE syndrome involves analyzing the patient’s DNA to look for mutations in the genes that are known to be associated with this condition. This can help confirm a diagnosis and provide information about the inheritance pattern of the syndrome.

The GRACILE syndrome is caused by mutations in the BCS1L gene. Genetic testing can identify these mutations, helping to confirm a diagnosis. It can also provide information about the likelihood of passing on the condition to future children, as GRACILE syndrome has an autosomal recessive inheritance pattern.

There are several resources available for genetic testing information, including scientific catalogs and databases. One of the most commonly used resources is OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information about genes and their associated diseases.

Before undergoing genetic testing, it is important to consult with a genetic counselor or healthcare provider who can explain the process and help interpret the results. They can also provide support and guidance, as genetic testing can have emotional implications for individuals and families.

In addition to genetic testing, there are other resources available for individuals and families affected by GRACILE syndrome. Advocacy organizations and patient support groups can provide information and support, connecting individuals with others who are going through similar experiences.

Overall, genetic testing for GRACILE syndrome is an important tool for diagnosing and understanding this rare condition. It can provide valuable information about the genetic causes of the syndrome, as well as the likelihood of inheritance. By learning more about the genetic basis of GRACILE syndrome, researchers can work towards developing therapies and interventions to support affected individuals and their families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an advocacy and resources center for rare genetic conditions. GARD provides information on GRACILE syndrome, which is a rare genetic condition also called growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death syndrome.

GARD offers various resources on GRACILE syndrome, including information about the condition’s genetic inheritance, testing options, associated symptoms, and available treatments. GARD also provides links to other sources of information, such as the Online Mendelian Inheritance in Man (OMIM) catalog, which leads to more detailed information about the condition.

Infants with GRACILE syndrome typically experience growth retardation, lactic acidosis, and other symptoms within the first few days or months of life. Genetic testing can help confirm the diagnosis and identify the specific gene mutations associated with the condition. GARD provides information about the frequency of GRACILE syndrome and the specific genes that are commonly affected.

For additional information and support, GARD suggests referring to resources such as the National Organization for Rare Disorders (NORD) and the GRACILE syndrome patient advocacy organizations. These organizations can provide valuable support and connect individuals and families with others who have experience with GRACILE syndrome.

GARD also provides references to scientific articles on GRACILE syndrome, facilitating access to the latest research and medical knowledge. PubMed, a database of scientific articles, can be a helpful resource for those interested in learning more about the genetic causes and treatment options for GRACILE syndrome.

In summary, the Genetic and Rare Diseases Information Center (GARD) serves as a comprehensive resource for information on GRACILE syndrome and other rare genetic diseases. From genetic testing and inheritance patterns to treatment options and patient advocacy groups, GARD offers a wealth of information and support for individuals and families affected by these conditions.

Patient Support and Advocacy Resources

Patients with GRACILE syndrome and their families can access a variety of resources to find support and advocacy. Here are some references and organizations that are associated with GRACILE syndrome:

  • GRACILE Support Group: Leads patient support and advocacy for individuals affected by GRACILE syndrome.
  • Genetic and Rare Diseases Information Center (GARD): Provides information on GRACILE syndrome and other rare genetic diseases. Offers resources for patients and their families.
  • Online Mendelian Inheritance in Man (OMIM): Catalog of human genes and genetic disorders. Includes information on the causes and inheritance patterns of GRACILE syndrome.
  • PubMed: A scientific database that allows users to learn more about GRACILE syndrome through research articles and publications.
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Before pursuing any patient support or advocacy, it is important to consult with healthcare professionals familiar with GRACILE syndrome. Genetic testing and counseling can provide additional information and guidance for affected individuals and their families.

GRACILE syndrome is a rare genetic disorder that typically affects infants. It is characterized by growth failure, aminoaciduria, anemia, and other symptoms. The syndrome is caused by mutations in the BCS1L gene. Inheritance is autosomal recessive, which means that the condition occurs when two copies of the mutated gene are present.

Patient support and advocacy resources can provide valuable information, assistance, and emotional support to individuals and families affected by GRACILE syndrome. These resources can help navigate the challenges associated with the condition and provide guidance on available testing and treatment options.

Catalog of Genes and Diseases from OMIM

The GRACILE syndrome, also called the Costeff syndrome, is a rare genetic condition that leads to growth retardation and lactic acidosis in infants. It is typically diagnosed within the first year of life. The syndrome is associated with mutations in the BCS1L gene.

OMIM, the Online Mendelian Inheritance in Man, provides a comprehensive catalog of genes and diseases. OMIM is a valuable resource for patients, healthcare professionals, and researchers to learn more about rare genetic conditions.

OMIM offers information on various aspects of the GRACILE syndrome, such as the genetic causes, inheritance pattern, associated symptoms, and additional resources for support and advocacy.

Patients and healthcare professionals can find detailed information about the GRACILE syndrome on the OMIM website. The OMIM entry for the GRACILE syndrome includes a summary of the condition, references to scientific articles on the topic, and genetic testing resources.

Genetic testing is often recommended for individuals suspected to have the GRACILE syndrome. This testing can confirm the diagnosis and identify specific mutations in the BCS1L gene. The OMIM entry provides information on available genetic testing options and their cost.

OMIM also provides a list of other genes associated with the GRACILE syndrome. These genes may have a less frequent causative role in the condition, but further research is needed to fully understand their contribution.

OMIM’s catalog of genes and diseases extends beyond the GRACILE syndrome. It includes information on numerous rare genetic conditions. Patients and healthcare professionals can search OMIM for specific conditions or genes to learn more about their characteristics and inheritance patterns.

In addition to the OMIM catalog, there are other resources available for individuals affected by rare genetic diseases. These resources include patient advocacy organizations, support groups, and scientific journals. PubMed is another useful platform for accessing scientific articles and research related to the GRACILE syndrome.

In summary, OMIM’s catalog of genes and diseases provides valuable information on the GRACILE syndrome and other rare genetic conditions. It is a comprehensive resource that offers information on genetic causes, inheritance patterns, associated symptoms, and additional resources for support and advocacy.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles and information about rare conditions such as GRACILE syndrome. GRACILE syndrome is a rare genetic disorder that typically affects infants and causes poor growth, lactic acid buildup, and other associated health problems.

GRACILE syndrome is inherited in an autosomal recessive manner, meaning that both parents need to carry a copy of the gene mutation for their child to have the condition. There are several genes associated with GRACILE syndrome, including the BCS1L gene. These genes play a role in mitochondrial function and energy production.

Before genetic testing became available, the diagnosis of GRACILE syndrome was often made based on clinical symptoms and characteristic findings on tests such as muscle biopsies. However, advances in genetic testing have made it possible to identify the specific gene mutations associated with the syndrome.

Scientific articles on PubMed provide additional information about GRACILE syndrome, the genes involved, and the frequency of the condition. They also offer insights into the causes and potential treatments for the syndrome.

The OMIM database, which is accessible through PubMed, is a catalog of human genes and genetic disorders. It provides detailed information about different genetic conditions, including GRACILE syndrome. The database includes references to scientific articles and other resources that can provide further information.

Advocacy organizations such as the GRACILE Syndrome Patient Support Center can also be valuable sources of information and support for individuals and families affected by this rare condition.

In conclusion, PubMed is a valuable resource for learning more about GRACILE syndrome and other rare genetic conditions. Scientific articles available through PubMed provide information about the causes, testing, and associated health issues with GRACILE syndrome. Additional support and information can be obtained from advocacy organizations and other resources.

References

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