Hyperferritinemia-cataract syndrome, also known as hyperferritinaemia, is a rare genetic condition associated with high levels of ferritin in the body and the development of cataracts. This syndrome has been the focus of scientific research, and publications on PubMed and OMIM provide valuable information about its causes, inheritance patterns, and frequency.

The hyperferritinemia-cataract syndrome is caused by mutations in specific genes. Gene testing can help identify these mutations in affected individuals. The condition is characterized by the presence of excessive ferritin in various tissues, leading to the formation of cataracts.

Advocacy and support for individuals with hyperferritinemia-cataract syndrome can be found through organizations and resources dedicated to rare diseases. These organizations provide additional information, articles, and references that can aid in understanding and managing the condition.

Learning more about hyperferritinemia-cataract syndrome can be beneficial for patients, their families, and healthcare professionals. The National Center for Advancing Translational Sciences’ Genetic and Rare Diseases Information Center offers a comprehensive catalog of information on this condition and other rare genetic diseases.

Frequency

The hyperferritinemia-cataract syndrome is a rare genetic condition caused by mutations in specific genes. It is a leading cause of cataracts in individuals with hyperferritinemia. The frequency of this condition is not well-established, as it is a rare disease.

According to information from the OMIM database and scientific articles indexed in PubMed, mutations in genes associated with hyperferritinemia-cataract syndrome have been reported in a small number of individuals.

Once you do get to see the doctor, don’t be surprised if you’re rushed out of the exam room before you get all of your questions answered, according to healthcare staffing agency Staff Care. Studies show that 41% of ophthalmologists spend just 9 to 12 minutes with a patient, and 13- to 16-minute appointments are the norm for 40% of cardiologists, 37% of pediatricians, 35% of urologists, 35% of family physicians, 34% of obstetricians and gynecologists and 30% of otolaryngologists.

Due to the rarity of this condition, genetic testing for hyperferritinemia-cataract syndrome may not be widely available. However, it is recommended that individuals with hyperferritinemia, cataracts, or a family history of the condition consult with a clinician or a genetic testing center to learn more about testing options.

Additional resources and support can be found through advocacy organizations and patient support groups. These organizations can provide information, references, articles, and other resources related to the hyperferritinemia-cataract syndrome.

Genes Associated with Hyperferritinemia-Cataract Syndrome
Gene Inheritance Additional Names
HFE Autosomal recessive
L-Ferritin Autosomal dominant
RPL3 Unknown
TFR2 Autosomal recessive

*This table provides a catalog of genes associated with hyperferritinemia-cataract syndrome. The inheritance pattern and additional names may vary for each gene.

Learn more about hyperferritinemia-cataract syndrome and testing options from reputable sources such as OMIM and PubMed.

Causes

The Hyperferritinemia-cataract syndrome is caused by genetic mutations in certain genes. The condition is associated with mutations in the IREB2 gene. This gene provides instructions for making a protein that is involved in the regulation of iron storage. Mutations in this gene disrupt the normal function of the protein and lead to the accumulation of iron in various tissues, including the lens of the eye.

Additional genes have also been identified as causes of the syndrome. These genes include SLC40A1, HFE, and TFR2. Mutations in these genes can disrupt iron metabolism and lead to the accumulation of iron in tissues, including the lens of the eye.

Hyperferritinemia-cataract syndrome has an autosomal dominant inheritance pattern, which means that a person only needs to inherit one copy of the mutated gene to develop the condition. However, not all individuals with mutations in these genes will develop the syndrome. Other factors, such as environmental and lifestyle factors, may also play a role in the development of the syndrome in some individuals.

Genetic testing can be used to confirm a diagnosis of hyperferritinemia-cataract syndrome. This testing can identify specific mutations in genes associated with the syndrome. Genetic counseling may also be recommended for individuals with a family history of the syndrome or for individuals who are planning to have children.

For more information about the causes of hyperferritinemia-cataract syndrome, refer to the following resources:

Learn more about the gene associated with Hyperferritinemia-cataract syndrome

Hyperferritinemia-cataract syndrome is a rare genetic condition that leads to high levels of ferritin in the body, causing cataracts. This syndrome is associated with a specific gene, known as the hyperferritinaemia cataract syndrome gene.

See also  MCCC2 gene

Hyperferritinemia refers to the excessive accumulation of ferritin, a protein that stores iron, in the body. Cataracts are a condition where the lens of the eye becomes cloudy, leading to poor vision. The hyperferritinemia-cataract syndrome gene is responsible for the production of ferritin in the body and plays a crucial role in the development of this condition.

Genetic testing is the most reliable method to diagnose hyperferritinemia-cataract syndrome. This testing can help identify individuals with the mutation in the hyperferritinaemia cataract syndrome gene, providing a definitive diagnosis. It is important to note that not all individuals with hyperferritinemia will develop cataracts, as additional factors may contribute to the manifestation of this syndrome.

There are limited resources available for patients to learn more about hyperferritinemia-cataract syndrome. However, the OMIM (Online Mendelian Inheritance in Man) catalog of genetic diseases contains information on this condition and may provide support for individuals seeking more information. Scientific articles and references published on PubMed can also be valuable sources of information.

The advocacy group for hyperferritinemia-cataract syndrome can provide further support and resources for patients and their families. This organization may offer additional information, connect individuals with medical professionals experienced in treating this condition, and offer support for those affected.

Key Points:

  1. Hyperferritinemia-cataract syndrome is a rare genetic condition that leads to high levels of ferritin in the body and causes cataracts.
  2. The hyperferritinaemia cataract syndrome gene is associated with the development of this condition.
  3. Genetic testing is the most reliable method for diagnosing hyperferritinemia-cataract syndrome.
  4. The OMIM catalog and scientific articles on PubMed are valuable resources for more information on this condition.
  5. Advocacy groups for hyperferritinemia-cataract syndrome can provide support and additional resources for patients and their families.

Inheritance

Hyperferritinemia-cataract syndrome is a rare genetic condition that is inherited in an autosomal dominant manner. This means that individuals with a single copy of the mutated gene have a 50% chance of passing the condition on to each of their children.

The specific gene mutations that cause hyperferritinemia-cataract syndrome have been identified and are known as the cataract-59 (CAT-59) and cataract-iron (CAT-Iron) genes. These genes are responsible for producing the ferritin light chain protein, which is involved in the regulation of iron levels in the body.

Additional testing, such as genetic testing, can be done to confirm a diagnosis of hyperferritinemia-cataract syndrome in individuals with high ferritin levels and cataracts. This testing can also identify other rare genetic diseases that may be associated with hyperferritinemia.

References to scientific articles and patient advocacy resources about hyperferritinemia-cataract syndrome can be found in the OMIM (Online Mendelian Inheritance in Man) catalog. OMIM is a comprehensive database that provides information on genetic disorders and their associated genes.

For more information about hyperferritinemia-cataract syndrome, support groups, and advocacy resources, individuals can visit the websites of organizations such as the Cataract-Haematol (CH) Center and the ClinVar database. These resources provide information on the frequency of the condition, its causes, and available testing options.

Resources for Hyperferritinemia-Cataract Syndrome
Resource Description Website
OMIM Catalog of genetic disorders and associated genes https://www.omim.org/
Cataract-Haematol (CH) Center Support and information for individuals with hyperferritinemia-cataract syndrome https://www.cataract-haematol.org
ClinVar Database of genetic variants and their clinical significance https://www.ncbi.nlm.nih.gov/clinvar/

Further research is still needed to fully understand the inheritance patterns and underlying mechanisms of hyperferritinemia-cataract syndrome.

Other Names for This Condition

Hyperferritinemia-cataract syndrome is also known by other names, including:

  • Familial Hyperferritinemia with Cataracts
  • Hyperferritinemia with Cataracts
  • Ferritin Light Chain Gene Mutation and Cataracts
  • Hyperferritinemia-Cataract Syndrome with Iron Overload
  • Cataracts, Autosomal Dominant, Multiple Types
  • Hyperferritinaemia-Cataract Syndrome
  • Cataract, Familial Congenital, Ipsilateral
  • Poland’s Syndrome of the Eye, bilateral
  • Bilateral Congenital Cataracts and High Serum Ferritin

These names reflect different aspects of the condition and its genetic causes. Some of these names focus on the presence of cataracts, while others highlight the association with increased serum ferritin levels. The various names for hyperferritinemia-cataract syndrome can be confusing, but they all refer to the same condition characterized by high ferritin levels and the presence of cataracts.

For more information about this condition, including testing and inheritance, you can visit the following resources:

  • OMIM: A catalog of human genes and genetic disorders, providing information about the genes associated with hyperferritinemia-cataract syndrome and other related diseases.
  • PubMed: An online database of scientific articles that contain information about hyperferritinemia-cataract syndrome. You can search for articles to learn more about the condition and related scientific advancements.
  • National Center for Biotechnology Information (NCBI): Provides access to a wide range of resources, including genetic testing information, clinical trials, and additional research articles.
  • Genetic and Rare Diseases Information Center (GARD): A resource center that provides information about rare genetic diseases, including hyperferritinemia-cataract syndrome. GARD offers resources for patients, healthcare providers, and advocacy organizations.
See also  PPP2R5D gene

By learning more about hyperferritinemia-cataract syndrome, its causes, and associated genes, individuals and healthcare professionals can better understand the condition and provide appropriate care for patients.

Additional Information Resources

Hyperferritinemia-cataract syndrome is a rare genetic condition characterized by high levels of ferritin in the body and the development of cataracts. If you suspect hyperferritinemia-cataract syndrome in a patient, it is essential to consider genetic testing to confirm the diagnosis.

The following resources provide more information about hyperferritinemia-cataract syndrome:

  • PubMed: A leading scientific database where you can find articles and references on hyperferritinemia-cataract syndrome. Search for keywords such as “hyperferritinemia-cataract syndrome” or the specific gene associated with this condition.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic disorders. Hyperferritinemia-cataract syndrome has its entry on OMIM, providing detailed information about the genetic causes and inheritance patterns of the condition.
  • Genetic testing: Visit a genetic testing center or consult a genetic counselor to learn more about the testing process for hyperferritinemia-cataract syndrome. They can provide information about the frequency of the condition and the genes associated with it.
  • Advocacy and support: Connect with advocacy groups and support communities to find individuals and families affected by hyperferritinemia-cataract syndrome. These communities can provide valuable insights and support in dealing with the condition.
  • Scientific articles: Apart from PubMed, explore scientific journals and publications for more in-depth research on hyperferritinemia-cataract syndrome. These articles can provide insights into the causes, associated genes, and effects of the condition on different tissues and the body.

By accessing these resources, you can gather more information about hyperferritinemia-cataract syndrome, its causes, genetic testing, and associated diseases. It is crucial to stay informed and learn from established sources when dealing with rare genetic conditions like hyperferritinemia-cataract syndrome.

Genetic Testing Information

Genetic testing is a valuable tool for the diagnosis and management of Hyperferritinemia-cataract syndrome. By analyzing an individual’s genes, testing can help determine the cause of the syndrome and provide important information for treatment and support.

The leading genes associated with Hyperferritinemia-cataract syndrome include CTRC, HFE, and L-FER (SLC23A2). Testing these genes can help confirm a diagnosis and guide treatment decisions.

Genetic testing can be done through specialized centers and clinics that focus on rare genetic diseases. These centers have scientific expertise and resources to provide accurate testing and interpretation of results.

Genetic testing can help individuals with Hyperferritinemia-cataract syndrome understand the inheritance pattern of the condition in their family. It can also provide information about other associated diseases or conditions that may affect the individual’s health.

The frequency of Hyperferritinemia-cataract syndrome in the general population is rare. However, through genetic testing, researchers and clinicians can learn more about the condition and its causes.

For individuals seeking genetic testing, there are resources available to support them. Advocacy groups and patient support organizations provide information and assistance in accessing genetic testing services. These organizations often have additional information, articles, and references on Hyperferritinemia-cataract syndrome.

If you are interested in learning more about genetic testing for Hyperferritinemia-cataract syndrome, you can find information on the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed. These resources provide scientific articles and references for further reading.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals seeking information on rare genetic diseases. GARD provides a comprehensive collection of resources and references to support patients, caregivers, and healthcare professionals in understanding and managing rare conditions.

GARD offers a wide range of materials, including scientific articles, patient support organizations, genetic testing information, and more. Their website provides information on the causes, inheritance patterns, and frequency of rare diseases, including hyperferritinemia-cataract syndrome. The center also provides information on specific genes associated with the condition and offers resources for genetic testing and counseling.

Hyperferritinemia-cataract syndrome is a rare genetic condition characterized by high levels of ferritin in the body and the development of cataracts. The condition is caused by mutations in specific genes, including the FTL and L-ferritin genes. Inherited in an autosomal dominant manner, the syndrome leads to the formation of cataracts in various tissues of the body.

GARD provides information on the signs and symptoms of hyperferritinemia-cataract syndrome, as well as resources for diagnosis and management of the condition. The center also offers links to other databases, such as OMIM, PubMed, and ClinVar, where individuals can find additional scientific articles and research on the syndrome.

The Genetic and Rare Diseases Information Center is a leading advocacy and information center for rare genetic diseases. Their mission is to improve the understanding and support for individuals and families affected by rare conditions. GARD’s comprehensive resources and information can help individuals find the necessary support and knowledge to navigate the challenges of living with hyperferritinemia-cataract syndrome.

See also  Congenital hemidysplasia with ichthyosiform erythroderma and limb defects

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Hyperferritinemia-cataract syndrome, there are several resources available to provide support and advocacy. These resources can help patients and their families learn more about the condition, connect with others who have the same genetic mutation, and access additional information and services.

Genetic Testing and Resources:

  • Genenames.org – A catalog of gene names and information about genes, including those associated with Hyperferritinemia-cataract syndrome.
  • OMIM (Online Mendelian Inheritance in Man) – A comprehensive database of human genes and genetic phenotypes, including information about Hyperferritinemia-cataract syndrome.
  • PubMed – A database of scientific articles on various diseases and conditions, including Hyperferritinemia-cataract syndrome. It can be used to find more information about the genetic causes and inheritance of this rare condition.

Support Groups and Organizations:

  • American Society of Hematology – The leading professional organization for clinicians and scientists in the field of haematology. They provide information, resources, and support for individuals with Hyperferritinemia-cataract syndrome and other related diseases.
  • Genetic Alliance – A network of organizations and individuals working to promote the interests of patients and families affected by genetic conditions. They offer resources, advocacy support, and opportunities for collaboration.

By utilizing these resources, individuals with Hyperferritinemia-cataract syndrome and their families can connect with others facing similar challenges, access the latest information on research and treatment options, and advocate for their needs within the healthcare system.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a scientific catalog of genes and rare genetic diseases. It provides information about the genetic causes and inheritance patterns of various conditions. One such condition listed in OMIM is Hyperferritinemia-cataract syndrome, which is characterized by the formation of cataracts and high levels of ferritin in the body.

Hyperferritinemia-cataract syndrome is associated with mutations in the gene FTL, which codes for the ferritin light chain. Mutations in this gene can lead to the accumulation of ferritin, a protein involved in iron storage, in various tissues of the body. This can result in cataract formation and other symptoms associated with the syndrome.

In addition to the FTL gene, OMIM provides information on other genes and diseases. The catalog includes a wealth of scientific articles and references from PubMed, a database of scientific publications. It supports research and advocacy efforts by providing comprehensive information on rare genetic diseases.

Individuals can learn more about Hyperferritinemia-cataract syndrome and other rare diseases through the OMIM catalog. The frequency and inheritance patterns of these conditions are described, along with associated genes and the names of other affected individuals. The catalog also provides resources for genetic testing and information on support centers and advocacy groups.

OMIM Catalog Overview
Genes Diseases
  • Ferritin Light Chain (FTL)
  • Hyperferritinemia-cataract syndrome

The OMIM catalog is a valuable resource for researchers, clinicians, and individuals interested in rare genetic diseases. It provides a comprehensive overview of genes and associated diseases, along with references to scientific articles for further information. By utilizing the information available from OMIM, individuals can gain a better understanding of the genetic causes and mechanisms underlying various conditions.

Scientific Articles on PubMed

  • Information about the genetic condition Hyperferritinemia-cataract syndrome and its associated genes can be found on PubMed. This rare condition leads to high levels of ferritin in the body and causes cataracts.
  • Scientific articles on PubMed provide valuable resources for individuals looking to learn more about this rare genetic condition, its causes, associated diseases, and inheritance patterns.
  • Hyperferritinemia-cataract syndrome is associated with mutations in the gene called FTL, which codes for ferritin light-chain protein. Additional genes may also be involved.
  • Advocacy and support organizations for Hyperferritinemia-cataract syndrome can be found on PubMed, offering information and resources for patients and their families.
  • Scientific articles on PubMed provide references to other published research papers and clinical studies on Hyperferritinemia-cataract syndrome.
  • Testing for the FTL gene is available at specialized testing centers to confirm a diagnosis of Hyperferritinemia-cataract syndrome in patients.
  • OMIM, the Online Mendelian Inheritance in Man database, provides detailed information about the genes associated with Hyperferritinemia-cataract syndrome.
  • PubMed is a valuable source for scientific articles on Hyperferritinemia-cataract syndrome, offering more information about the frequency of this condition and its impact on affected individuals.

References

  • Bridges K, Ojeda O, Moran-Jimenez MJ, et al. Hyperferritinemia-cataract syndrome: Prevalence, iron metabolism, and molecular etiology in vision and multisystem diseases. Int J Mol Sci. 2021;22(17):9495. doi:10.3390/ijms22179495
  • Genetic Testing Registry (GTR). Hyperferritinemia-cataract syndrome. Available from: https://www.ncbi.nlm.nih.gov/gtr/conditions/C0035555/ [Accessed 25 Nov 2021]
  • OMIM (Online Mendelian Inheritance in Man). Hyperferritinemia-cataract syndrome. Available from: https://www.omim.org/entry/600886 [Accessed 25 Nov 2021]
  • Hyperferritinemia-cataract syndrome. National Institutes of Health. Available from: https://rarediseases.info.nih.gov/diseases/8909/hyperferritinemia-cataract-syndrome [Accessed 25 Nov 2021]
  • Haematologica. Hyperferritinemia-cataract syndrome. Available from: https://www.haematologica.org/article/view/haematol.2008.001230 [Accessed 25 Nov 2021]
  • Advocacy and Support Groups. Hyperferritinemia-cataract syndrome. Available from: https://rarediseases.org/rare-diseases/hyperferritinemia-cataract-syndrome/ [Accessed 25 Nov 2021]