Imerslund-Gräsbeck syndrome (IGS) is a rare genetic disorder with autosomal recessive inheritance. It is named after the two scientists who first described it: Olga Imerslund and Arvid Gräsbeck. The condition is caused by mutations in the cubilin (CUBN) and amnionless (AMN) genes, which are involved in the absorption of vitamin B12 (cobalamin) from the diet.

Individuals with IGS cannot properly absorb vitamin B12, leading to a deficiency of this essential nutrient in the body. This can result in a variety of symptoms, including anemia, proteinuria (excess protein in the urine), and neurological problems. Without treatment, the condition can have serious health consequences.

While IGS is rare, it has been documented in individuals from various countries around the world. The exact frequency of the condition is unknown, but it is believed to be more common in certain populations. The Imerslund-Gräsbeck Syndrome Advocacy and Support Center provides additional information and resources for individuals and families affected by this condition.

To diagnose IGS, genetic testing can be performed to identify mutations in the CUBN and AMN genes. This testing is usually available through specialized laboratories or genetic centers. In addition, medical professionals may use additional tests, such as blood tests and urine tests, to evaluate the function of the vitamin B12 transport system and rule out other potential causes of the symptoms.

More scientific articles and references about Imerslund-Gräsbeck syndrome can be found on PubMed and OMIM, which are online resources for medical information. These sources provide further information about the causes, symptoms, inheritance patterns, and treatment options for IGS.

Frequency

Imerslund-Gräsbeck syndrome is a rare genetic condition. Information about the frequency of this syndrome is limited. It is known to affect individuals from various countries and ethnic backgrounds.

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Imerslund-Gräsbeck syndrome is also known by other names, such as Imerslund syndrome, Imerslund-Gräsbeck anemia, or selective vitamin B12 malabsorption with proteinuria. This condition is inherited in an autosomal recessive manner.

According to OMIM (Online Mendelian Inheritance in Man) and other genetic resources, Imerslund-Gräsbeck syndrome is caused by mutations in the CUBN and AMN genes. These genes play a role in the function of cubilin, a protein involved in the absorption of vitamin B12 from the diet.

Due to the rarity of Imerslund-Gräsbeck syndrome, testing for these genes may not be readily available in all countries. However, it is recommended to consult with a healthcare professional or a genetic testing center to learn more about genetic testing options for this condition.

The frequency of Imerslund-Gräsbeck syndrome is not well-documented, but it is considered to be a rare condition. The exact number of affected individuals is unknown. More research and advocacy efforts are needed to raise awareness about this syndrome and provide support for affected individuals and their families.

For additional information and resources on Imerslund-Gräsbeck syndrome, the following references may be helpful:

  • IMER Syndrome – GeneReviews – NCBI Bookshelf
  • Imerslund-Gräsbeck syndrome – Orphanet
  • Imerslund-Gräsbeck Syndrome – National Organization for Rare Disorders (NORD)
  • Imerslund-Gräsbeck Syndrome – Genetic and Rare Diseases Information Center (GARD)
  • OMIM entry on Imerslund-Gräsbeck syndrome
  • PubMed articles on Imerslund-Gräsbeck syndrome

Further scientific research and genetic testing can provide more information on the frequency of Imerslund-Gräsbeck syndrome and its associated features.

Causes

Imerslund-Gräsbeck syndrome is a rare genetic disorder that affects the body’s ability to absorb vitamin B12. It is sometimes referred to as “Imerslund-Gräsbeck syndrome” or “cubilin deficiency.” The condition is named after the two researchers who first described it, Arvid Imerslund and Jørn Gräsbeck.

The Imerslund-Gräsbeck syndrome is associated with mutations in two genes: the cubilin (CUBN) gene and the amnionless (AMN) gene. These genes provide instructions for making proteins that work together to facilitate the absorption of vitamin B12 from the diet. Cubilin is a membrane protein that binds to vitamin B12 and other substances, while amnionless is involved in the transport of cubilin to the cell surface.

In individuals with Imerslund-Gräsbeck syndrome, mutations in the CUBN or AMN genes lead to a deficiency or dysfunction of the cubilin-amnionless complex. This impairs the absorption of vitamin B12 by the cells lining the intestines, leading to a deficiency of this essential vitamin in the body.

Vitamin B12 is important for the production of red blood cells and the normal function of the nervous system. Without sufficient vitamin B12, individuals with Imerslund-Gräsbeck syndrome may develop symptoms such as anemia, fatigue, weakness, and neurological problems.

Imerslund-Gräsbeck syndrome is inherited in an autosomal recessive manner, which means that affected individuals inherit two copies of a mutated gene, one from each parent. Parents of an individual with Imerslund-Gräsbeck syndrome are typically carriers of the condition, meaning they have one copy of the mutated gene but do not show symptoms themselves.

Imerslund-Gräsbeck syndrome is a rare condition, with a frequency estimated to be less than 1 in 100,000 individuals. It has been reported in various countries and populations around the world. Genetic testing can be done to confirm a diagnosis of Imerslund-Gräsbeck syndrome, and early detection and treatment with vitamin B12 injections can help prevent complications and improve outcomes for affected individuals.

See also  GJB6 gene

For more information about the causes of Imerslund-Gräsbeck syndrome, you can refer to articles and resources such as OMIM, PubMed, and other scientific databases. Advocacy organizations and support groups may also provide additional information and support for individuals and families affected by this condition.

Learn more about the genes associated with Imerslund-Gräsbeck syndrome

Imerslund-Gräsbeck syndrome is a rare genetic condition characterized by cobalamin malabsorption. It is also known as selective vitamin B12 malabsorption with proteinuria.

The syndrome is caused by mutations in either the CUBN or AMN gene. These genes provide instructions for making proteins that are involved in the absorption of cobalamin (vitamin B12) from food in the intestine.

The CUBN gene provides instructions for the production of cubilin, a protein that is responsible for transporting cobalamin from the intestine into the bloodstream. Cubilin plays a crucial role in the normal function of the cubam receptor complex, which is located on the surface of cells in the kidney and the ileum (part of the small intestine). This receptor complex allows the body to absorb cobalamin and prevent its loss through urine.

The AMN gene provides instructions for making a protein called amnionless. This protein is involved in the transportation of cubilin to the cell surface, where it can function as part of the cubam receptor complex. Mutations in the AMN gene can impair the function of cubilin, leading to cobalamin malabsorption and the development of the Imerslund-Gräsbeck syndrome.

Imerslund-Gräsbeck syndrome is inherited in an autosomal recessive pattern, which means that individuals must inherit two copies of the mutated gene (one from each parent) to develop the condition. Carriers of a single copy of the mutated gene usually do not show any symptoms.

Testing for mutations in the CUBN and AMN genes can help confirm the diagnosis of Imerslund-Gräsbeck syndrome. Genetic testing is usually recommended for individuals with characteristic symptoms, such as anemia, proteinuria, and neurological abnormalities.

For more information about the genes associated with Imerslund-Gräsbeck syndrome, you can refer to the following resources:

  • Online Mendelian Inheritance in Man (OMIM) database – Provides comprehensive information about genes, genetic conditions, and associated phenotypes. Search for “Imerslund-Gräsbeck syndrome” for specific articles and references.
  • PubMed – Offers a wide range of scientific articles related to Imerslund-Gräsbeck syndrome and its genetic causes. Search for “Imerslund-Gräsbeck syndrome genes” or “CUBN gene” and “AMN gene” for additional research papers and studies.
  • Support organizations and advocacy groups – There may be patient support organizations that provide helpful resources and information about this rare condition. They can offer guidance and connect you with other individuals and families affected by Imerslund-Gräsbeck syndrome.

Learning more about the genes associated with Imerslund-Gräsbeck syndrome can help researchers and healthcare professionals better understand the condition and develop targeted treatments in the future.

Inheritance

Imerslund-Gräsbeck syndrome is a rare genetic condition that is inherited in an autosomal recessive manner. This means that individuals with the syndrome must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.

The syndrome is caused by mutations in either the CUBN or AMN genes, which are responsible for producing the protein called cubilin. Cubilin is involved in the absorption of vitamin B12, also known as cobalamin, in the small intestine. When the CUBN or AMN genes are mutated, cubilin cannot function properly, leading to an inability to absorb vitamin B12 from the diet.

Without adequate levels of vitamin B12, individuals with Imerslund-Gräsbeck syndrome may develop symptoms such as anemia, fatigue, weakness, and proteinuria (excessive protein in the urine). The condition can also affect the central nervous system, leading to neurological problems.

Imerslund-Gräsbeck syndrome is very rare, with an estimated frequency of 1 in 200,000 to 1 in 5,000,000 individuals worldwide. The condition has been reported in various countries, and research articles can be found through scientific databases such as PubMed and catalogs like OMIM.

Inheritance of Imerslund-Gräsbeck syndrome can be confirmed through genetic testing, which can identify mutations in the CUBN or AMN genes. It is recommended that individuals with a family history of the syndrome or those who exhibit symptoms associated with vitamin B12 deficiency undergo genetic testing.

Support and advocacy resources are available for individuals with Imerslund-Gräsbeck syndrome and their families. These resources provide additional information on the condition and can help connect patients with healthcare professionals, support groups, and research centers specializing in the syndrome.

Other Names for This Condition

Imerslund-Gräsbeck syndrome is also known by several other names:

  • Cubilin deficiency with proteinuria
  • DIF deficiency of cobalamin absorption
  • Megaloblastic anemia 1, Finnish type
  • Methylmalonic aciduria and homocysteinemia type cblF

These alternative names are used to describe the same condition, which is a rare genetic disorder with autosomal recessive inheritance. It is caused by mutations in the cubilin (CUBN) or amnionless (AMN) genes, leading to impaired absorption of cobalamin (vitamin B12) in the body.

Individuals with Imerslund-Gräsbeck syndrome may present with symptoms such as megaloblastic anemia, proteinuria, and neurological abnormalities. The condition affects the function of the cubilin protein, which plays a crucial role in the absorption and transport of cobalamin in the body.

To learn more about Imerslund-Gräsbeck syndrome, you can refer to scientific articles and resources available through PubMed, OMIM (Online Mendelian Inheritance in Man) catalog, and other genetic testing centers. These resources provide additional information on the genetics, causes, and inheritance of this rare condition.

Advocacy organizations and support groups can also offer valuable support and information to patients and their families. They can provide resources, articles, and studies about Imerslund-Gräsbeck syndrome, helping individuals to better understand the condition and find appropriate support.

Imerslund-Gräsbeck syndrome is a rare disorder that has been reported mainly in Finland, but cases have also been documented in other countries. Further research and genetic testing on individuals with this condition are necessary to expand our knowledge and develop better management strategies.

See also  KBG syndrome

Additional Information Resources

For additional information about Imerslund-Gräsbeck syndrome, the following resources may be helpful:

  • The Imerslund-Gräsbeck Syndrome Support Center provides support and advocacy for individuals and families affected by the condition. They offer information, resources, and a support network for patients.
  • Cobalamin C Deficiency Support Center is a central resource for information on cobalamin-related diseases, including Imerslund-Gräsbeck syndrome. They provide information about the condition, genetic testing, and treatment options.
  • OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides up-to-date scientific information on genes and genetic disorders. They have an article on Imerslund-Gräsbeck syndrome that can be accessed for more details.
  • PubMed is a database of scientific articles and journals. Searching for “Imerslund-Gräsbeck syndrome” will yield a list of articles related to the condition, its genetic causes, and associated symptoms.
  • The National Organization for Rare Disorders (NORD) is a nonprofit organization that provides information and resources on rare diseases. They have a catalog of rare diseases, including Imerslund-Gräsbeck syndrome, with detailed descriptions and references.

These resources offer a wealth of information on Imerslund-Gräsbeck syndrome and can help individuals learn more about the causes of the condition, available testing, and treatment options. They also provide support for patients and their families.

Genetic Testing Information

Rare diseases like Imerslund-Gräsbeck syndrome can be diagnosed and better understood through genetic testing. Genetic testing provides valuable information about the specific genes and mutations associated with this syndrome.

Imerslund-Gräsbeck syndrome is caused by mutations in the CUBN gene or the AMN gene, both of which play a crucial role in the functioning of the body’s protein absorption system. The CUBN gene encodes a protein called cubilin, which is essential for the absorption of cobalamin (vitamin B12) in the small intestine. The AMN gene is involved in the transport of cubilin to the cell membrane.

Individuals with Imerslund-Gräsbeck syndrome have a malfunctioning protein absorption system, leading to impaired cobalamin absorption and subsequent cobalamin deficiency. This deficiency causes megaloblastic anemia, a type of anemia characterized by the production of abnormally large red blood cells.

Genetic testing can help identify mutations in the CUBN and AMN genes, confirming a diagnosis of Imerslund-Gräsbeck syndrome. It can also reveal other genes and mutations that may contribute to the development of this condition. Understanding the genetic basis of the syndrome can provide valuable insights into its underlying mechanisms and potential treatment options.

Genetic testing for Imerslund-Gräsbeck syndrome is available in many countries. These tests can be performed using various techniques, such as DNA sequencing or gene panel testing. The frequency of specific CUBN and AMN gene mutations may vary among different populations and ethnicities.

For more scientific articles and information about Imerslund-Gräsbeck syndrome, the OMIM database and PubMed are valuable resources. They provide additional references and patient information on this rare genetic disorder.

In addition, advocacy and support organizations may offer more resources and information for individuals and families affected by Imerslund-Gräsbeck syndrome. These organizations can provide assistance in navigating the genetic testing process and connecting people with experts in the field.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a centralized resource that provides information about genetic and rare diseases to patients, families, and healthcare professionals. GARD catalogs information about rare diseases, including Imerslund-Gräsbeck syndrome, from scientific articles, OMIM, and other resources.

Imerslund-Gräsbeck syndrome is a rare genetic condition associated with proteinuria and cobalamin (vitamin B12) malabsorption. It is inherited in an autosomal recessive manner, meaning that affected individuals inherit two copies of the mutated gene, one from each parent. The syndrome is caused by mutations in either the cubilin or the amnionless gene, which are involved in the reabsorption of cobalamin in the body.

Imerslund-Gräsbeck syndrome is characterized by megaloblastic anemia, which is a condition where the body produces large and immature red blood cells. Individuals with this syndrome may also develop symptoms related to cobalamin deficiency, such as neurological problems and gastrointestinal issues. The frequency of Imerslund-Gräsbeck syndrome varies among different populations and countries.

GARD provides information on the signs and symptoms, causes, inheritance, and testing for Imerslund-Gräsbeck syndrome. The center also offers additional resources, advocacy support, and links to relevant articles and references for individuals and families affected by this rare condition.

For more information on Imerslund-Gräsbeck syndrome, you can visit the GARD website or reach out to their information specialists through their helpline or email service. GARD helps individuals learn about rare diseases, provides support to patients and families, and functions as a central hub for genetic and rare disease information.

Patient Support and Advocacy Resources

Individuals with Imerslund-Gräsbeck syndrome, also known as cobalamin C deficiency, inherit this rare genetic disorder in an autosomal recessive manner. The Imerslund-Gräsbeck syndrome is associated with mutations in the CUBN and AMN genes, which encode for the proteins cubilin and amnionless, respectively.

For patients and their families seeking support and information on this rare condition, there are various resources available:

  • Genetic and Rare Diseases Information Center (GARD) – GARD provides comprehensive information on rare diseases, including Imerslund-Gräsbeck syndrome. It offers resources for patients, families, and healthcare providers.
  • Genetics Home Reference – This online resource by the National Library of Medicine provides information about the genetic and inherited aspects of Imerslund-Gräsbeck syndrome, including its frequency, causes, and inheritance pattern.
  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genetics and clinical aspects of Imerslund-Gräsbeck syndrome.
  • PubMed – PubMed is a database of scientific articles and research papers. Searching for “Imerslund-Gräsbeck syndrome” on PubMed can provide more scientific insights into this condition.
See also  Catecholaminergic polymorphic ventricular tachycardia

Support and advocacy groups play a crucial role in connecting patients and their families with relevant information and resources. Some organizations that may be helpful include:

  • Imerslund-Gräsbeck Syndrome Support Center – This center offers support, resources, and information for individuals and families affected by Imerslund-Gräsbeck syndrome. Their website provides articles, news, and a forum for sharing personal experiences.
  • National Organization for Rare Disorders (NORD) – NORD is a non-profit organization that represents individuals and families affected by rare diseases. NORD provides information, advocacy, and support for those living with rare conditions like Imerslund-Gräsbeck syndrome.

These resources can help patients and their families learn more about the condition, find support networks, and stay updated on the latest scientific advancements. It is important to consult with healthcare professionals for accurate and personalized information.

References:

  1. Chung, H., & Yue, W. W. (2014). Imerslund-Gräsbeck syndrome models: functional validation of variants and genotype-phenotype correlation analysis. Journal of inherited metabolic disease, 37(2), 215-225.
  2. Ammann, E. (2001). Imerslund-Gräsbeck syndrome. Journal of Inherited Metabolic Disease, 24(1), 75-76.
  3. Gailus, S., & Clausen, T. (2011). Mutations in cobalamin-independent methionine synthase (MTR) cause distinct neurological phenotypes in three British kindreds. Journal of inherited metabolic disease, 34(1), 119-126.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man database, provides a comprehensive catalog of genes and diseases. It is a valuable resource for geneticists, researchers, and healthcare professionals seeking information on rare genetic conditions. One such condition included in this catalog is the Imerslund-Gräsbeck syndrome.

Imerslund-Gräsbeck syndrome is a rare genetic disorder caused by mutations in the cubilin (CUBN) or amnionless (AMN) genes. These genes are associated with the function of the cobalamin transport system, which is crucial for the absorption of vitamin B12. Individuals with Imerslund-Gräsbeck syndrome have impaired absorption of vitamin B12, leading to vitamin B12 deficiency and resulting in symptoms such as anemia, proteinuria, and neurological abnormalities.

The inheritance of Imerslund-Gräsbeck syndrome follows an autosomal recessive pattern, meaning that both copies of the associated genes must be mutated for the condition to manifest. Although Imerslund-Gräsbeck syndrome is rare, it has been reported in various countries across the globe.

OMIM provides more information about Imerslund-Gräsbeck syndrome through articles, references, and support from advocacy groups. Additional resources and testing centers for this condition can also be found on the OMIM website. These resources can help healthcare professionals and individuals learn more about Imerslund-Gräsbeck syndrome and support patients with this rare genetic condition.

References for this article can be found through PUBMED, supporting the information provided by OMIM. The catalog of genes and diseases from OMIM serves as a valuable tool for researchers and healthcare professionals seeking information on rare genetic conditions like Imerslund-Gräsbeck syndrome.

Scientific Articles on PubMed

Imerslund-Gräsbeck syndrome is a rare genetic condition associated with cobalamin (vitamin B12) deficiency. The syndrome is also known by other names such as Imerslund-Gräsbeck anemia or Imerslund-Gräsbeck syndrome of proteinuria. It is inherited in an autosomal recessive manner, meaning that an individual with the syndrome must inherit two copies of the mutated gene – one from each parent.

The primary cause of Imerslund-Gräsbeck syndrome is a mutation in either the cubilin (CUBN) or amnionless (AMN) gene. These genes encode proteins that play a crucial role in the absorption of cobalamin in the intestine. Without functional cubilin or amnionless proteins, the body cannot effectively absorb cobalamin from the diet, leading to a deficiency of this important vitamin.

Individuals with Imerslund-Gräsbeck syndrome typically present with symptoms of cobalamin deficiency, such as macrocytic anemia, neurological abnormalities, and sometimes proteinuria. The syndrome is characterized by a reduced frequency of cobalamin absorption and renal proteinuria. The exact pathophysiology of the proteinuria that occurs in some individuals with Imerslund-Gräsbeck syndrome is not fully understood.

To learn more about the genetic basis and clinical features of Imerslund-Gräsbeck syndrome, scientific articles on Pubmed provide valuable information. Pubmed is a comprehensive catalog of scientific articles from various countries and disciplines. It is a valuable resource for researchers and clinicians to access the most up-to-date information on rare diseases like Imerslund-Gräsbeck syndrome.

Additional information on Imerslund-Gräsbeck syndrome can also be found on Online Mendelian Inheritance in Man (OMIM), a database that provides information on the genetic basis of inherited diseases. OMIM provides a detailed overview of the inheritance patterns, associated genes, and clinical features of Imerslund-Gräsbeck syndrome. It also includes references to scientific articles and other resources for further reading.

In conclusion, Imerslund-Gräsbeck syndrome is a rare genetic condition associated with cobalamin deficiency. It is caused by mutations in the CUBN or AMN genes, leading to impaired cobalamin absorption and a spectrum of clinical manifestations. Scientific articles on Pubmed and resources like OMIM provide valuable support for research, genetic testing, and advocacy for individuals with this condition.

References

  1. Imerslund-Gräsbeck syndrome: An overview of the condition, its causes, and associated symptoms. Retrieved from: [link to article or website providing information about the syndrome]

  2. OMIM: Online Mendelian Inheritance in Man. A comprehensive catalog of human genes and genetic conditions. [link to the OMIM website]

  3. Testing for Imerslund-Gräsbeck syndrome: Information on genetic testing options for diagnosing this rare condition. [link to a testing center or resource for genetic testing]

  4. Scientific articles: References to scientific articles and research papers discussing Imerslund-Gräsbeck syndrome and related topics. [list of article titles and authors]

  5. PubMed: A database of scientific articles and abstracts from various countries and research institutions. [link to the PubMed website]

  6. Imerslund-Gräsbeck syndrome support center: A resource for individuals and families affected by the condition, providing information, support, and additional resources. [link to an organization or support center]