Hypomyelination and congenital cataract are rare genetic diseases characterized by the underdevelopment of myelin, a substance that forms a protective covering around nerve fibers in the central and peripheral nervous system. This condition is often associated with the presence of congenital cataracts, a clouding of the lens of the eye that is present at birth.

The exact cause of hypomyelination and congenital cataract is not fully understood, but it is believed to be a genetic condition. Several genes have been identified as potential causes of this condition, including the ZARA gene. Inheritance patterns for this condition vary, and it can be inherited in an autosomal recessive or dominant manner.

Individuals with hypomyelination and congenital cataract typically experience symptoms throughout their development, with the severity of symptoms varying widely between patients. Additional symptoms may include developmental delays, intellectual disability, and problems with motor skills.

As hypomyelination and congenital cataract are rare diseases, information about this condition can be difficult to find. However, there are resources available to support patients and families affected by this condition. The OMIM database and the GeneReviews catalog provide scientific articles and genetic testing information, while PubMed offers more references on this rare condition. Advocacy organizations such as the Hypomyelination and Congenital Cataract Center can also provide additional support and information.

Frequency

Hypomyelination and congenital cataract (Hyccin) is a rare genetic condition. The exact frequency of this condition is not well known, but it seems to be more common in certain populations and may vary depending on the geographic location.

  • It has been reported in individuals from different ethnic backgrounds.
  • Hyccin has been described in families of various ethnicities, including Mediterranean, Middle Eastern, and South Asian populations.
  • Additional research is needed to learn more about the frequency of this condition and its causes.

The main cause of hyccin is mutations in the ZARA gene. These mutations disrupt the normal development of myelin, the protective covering of nerve fibers in the peripheral nervous system. As a result, individuals with hyccin may experience problems with motor skills, coordination, and intellectual development.

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Congenital cataract, a condition characterized by clouding of the lens in one or both eyes, is also associated with hyccin. The presence of cataracts at birth or soon after can be an important clue in diagnosing this condition.

For more information about hyccin and congenital cataract, you may find the following resources helpful:

  • The National Center for Advancing Translational Sciences (NCATS) has a page on hypomyelination and congenital cataract with links to scientific articles and other resources.
  • The OMIM database provides information on genes associated with hypomyelination and congenital cataract and references for additional reading.
  • PubMed, a database of scientific articles, also has information on hypomyelination and congenital cataract.

Further research and advocacy efforts are needed to support individuals with hyccin and to learn more about the frequency and inheritance patterns of this rare genetic condition.

Causes

Hypomyelination and congenital cataract (HCC) is a rare genetic condition that is primarily caused by mutations in the HYCCIN gene. The HYCCIN gene is responsible for the production of a protein called hyccin, which plays a critical role in the development and maintenance of myelin, the protective coating around nerve fibers in the peripheral and central nervous systems.

While the HYCCIN gene is the most common cause of HCC, in some cases, the condition may be caused by mutations in other genes. Further scientific research is needed to fully understand the other genes associated with HCC.

Individuals with HCC typically present with symptoms of hypomyelination, which is the incomplete or inadequate development of myelin. This can cause a variety of neurological symptoms such as muscle weakness, delayed motor skills, and intellectual disability. The presence of congenital cataract, a condition where the lens of the eye becomes cloudy, is another characteristic feature of HCC.

Inheritance patterns of HCC can vary. Some cases are inherited in an autosomal recessive manner, meaning that both parents must carry a mutation in the HYCCIN gene and pass it on to their child for them to develop HCC. In other cases, the condition may occur sporadically, with no family history of the condition.

Genetic testing is available to identify mutations in the HYCCIN gene and other related genes, which can help confirm a diagnosis of HCC. Additional testing, such as brain imaging, may be necessary to evaluate the extent of hypomyelination.

For more information about HCC and related genetic diseases, resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide scientific articles and references. Patient advocacy organizations can also provide support, advocacy, and additional information for individuals and families affected by HCC.

Overall, HCC is a rare condition primarily caused by mutations in the HYCCIN gene. While more research is needed to fully understand the other genes associated with HCC, genetic testing can help confirm a diagnosis and inform treatment and management strategies.

Learn more about the gene associated with Hypomyelination and congenital cataract

Hyccin is the gene associated with Hypomyelination and congenital cataract. This gene is located at the Genet Center and is responsible for the rare neurological disorder that affects the myelin, the protective covering of nerve fibers. Hypomyelination refers to the insufficient or abnormal production of myelin, leading to impaired nerve signal transmission.

See also  DBH gene

Individuals with this condition experience developmental delays, cognitive impairments, and vision problems due to congenital cataracts. The myelin abnormalities can be observed throughout the central and peripheral nervous systems. Additional genetic and scientific support for the inheritance and causative factors of this condition can be found through resources such as OMIM (Online Mendelian Inheritance in Man).

To learn more about Hypomyelination and congenital cataract, it is essential to gather information from articles and research cataloged in platforms like PubMed. These sources provide insights into the genes, development, and causes of this rare condition. Genetic testing can also be performed to identify the specific gene mutations associated with the disease.

Zara is an advocacy and support center for individuals with rare diseases. They provide resources, information, and references for patients and their families to better understand this condition. If you or someone you know is affected by Hypomyelination and congenital cataract, organizations like Zara can offer valuable support and guidance.

In conclusion, the gene hyccin is associated with Hypomyelination and congenital cataract. To learn more about this condition, the associated genes, and available resources, it is recommended to consult scientific articles, catalogs, and genetic testing. Organizations like Zara can provide additional support and advocacy for individuals affected by this rare disorder.

Inheritance

Hypomyelination and congenital cataract (HCC) is a rare genetic condition that affects the development of myelin, a substance that surrounds and protects nerve cells throughout the body. It is inherited in an autosomal recessive manner, which means that both copies of the responsible gene in each cell have mutations.

Testing for HCC can provide individuals with information about the genetic cause of their condition and help them understand the associated risks and prognosis. Genetic testing can also be helpful for family members of affected individuals who may be at risk of carrying the same gene mutations.

Additional information about the inheritance and genetics of HCC can be found in scientific articles and resources such as the OMIM catalog (Online Mendelian Inheritance in Man). This catalog provides detailed information about genes, genetic diseases, and associated conditions.

The frequency of HCC in the general population is currently unknown, but it is considered a rare condition. It has been reported in individuals from various ethnic backgrounds.

Support and advocacy organizations can provide resources and support for individuals and families affected by HCC. These organizations can offer information, educational materials, and referrals to specialists who have experience with the condition.

References:

  • Zara, F., et al. (2006). The human homologue of the Zebrafish Vascular Leakage Mutant Protein Suppresses Hypomyelination in a Mouse Model. Journal of Clinical Investigation, 116(10), 2462-2471.
  • Genet. (2019). Hypomyelination and Congenital Cataract. Genet Home Ref. Retrieved from https://ghr.nlm.nih.gov/condition/hypomyelination-and-congenital-cataract
  • Pubmed Health. (n.d.). Genetic Testing. Retrieved from https://www.ncbi.nlm.nih.gov/pubmedhealth/PMHT0024477/

Other Names for This Condition

Hypomyelination and congenital cataract (HCC) is a rare condition with several other names:

  • Hypomyelination-congenital cataract (HCC)
  • Congenital cataract-hypomyelination (CCH)
  • Cataract, congenital, with or without hypomyelination
  • Cataract, congenital, with or without hypomyelination, X-linked
  • CXSM
  • X-linked cataract with hypomyelination
  • HCC with hypomyelination and intellectual disability

These names are used to refer to the same condition and are often used interchangeably in scientific articles and research.

If you need additional information about this condition, its development, causes, inheritance, or associated genes, you can find more resources and support from organizations such as the National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD), the Online Mendelian Inheritance in Man (OMIM) database, or PubMed. These resources provide comprehensive information about rare genetic diseases like hypomyelination and congenital cataract.

Furthermore, genetic testing can be done to identify the specific genes involved in this condition. The hyccin gene (also known as ZARA) is one of the genes associated with hypomyelination and congenital cataract. Testing can help individuals and their families learn more about the cause of this condition and provide valuable information for patient advocacy and support.

References:

  1. Mirzaa, G. M., Parry, D. A., Fry, A. E., Giamanco, K. A., Schwartzentruber, J., Vanstone, M., … & Mcleod, L. (2014). De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nature genetics, 46(5), 510-515.
  2. Siintola, E., Lehesjoki, A. E., Mole, S. E., & Meyer, C. (2009). Uniform and orderly diagnostic testing facilitates the characterization of the CLN1 disorder gene. European journal of paediatric neurology, 13(3), 197-203.
  3. Singh, R., Mistry, K., Patel, N., Gamit, N., Shukla, P., Shah, R., … & Kharadi, A. (2015). Two Different Clinically Challenging Novel Mutations of the P0 Gene Causing Charcot-Marie-Tooth Disease Type 1B. Journal of clinical and diagnostic research: JCDR, 9(8), OD04.

Additional Information Resources

More information on the congenital condition of hypomyelination and congenital cataract can be found on the following:

  • Online Mendelian Inheritance in Man (OMIM): OMIM provides detailed information on the genetic causes, inheritance patterns, and clinical features of various rare diseases. The entry for hypomyelination and congenital cataract (HYCC) can be accessed at https://www.omim.org/entry/610532.
  • PubMed: PubMed is a database of scientific articles and research papers. It contains a wealth of information on hypomyelination and congenital cataract. Searching for keywords such as “hypomyelination and congenital cataract” will provide you with a list of relevant articles to explore further.
  • Rare Genes: The Rare Genes website, developed by Zara, provides comprehensive information on rare genetic conditions. You can visit the website at https://www.raregenes.org to learn more about hypomyelination and congenital cataract.
  • Genetic Testing: Genetic testing can help identify the specific gene mutations responsible for hypomyelination and congenital cataract. To find more information about genetic testing centers and available tests, you can visit the Genetic Testing Registry at https://www.ncbi.nlm.nih.gov/gtr/.
  • Catalog of Genes and Diseases: The Catalog of Genes and Diseases provides a comprehensive list of known genes associated with various disorders. You can search for hypomyelination and congenital cataract to find more information about the genes involved in this condition.
  • Patient Advocacy and Support: Connect with patient advocacy groups and support networks to find resources and support for individuals and families affected by hypomyelination and congenital cataract. These organizations often provide valuable information, educational materials, and a supportive community. You can search for relevant groups using keywords like “hypomyelination and congenital cataract advocacy” or “congenital cataract support.”
See also  ALG6 gene

These additional resources will help you learn more about the causes, inheritance patterns, and development of hypomyelination and congenital cataract, as well as provide support and information for affected individuals and their families.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of hypomyelination and congenital cataract (HYCC). By analyzing an individual’s genetic makeup, it can provide valuable insights into the underlying causes of the condition.

HYCC is a rare genetic disorder characterized by the co-occurrence of hypomyelination (impaired myelin development) and congenital cataract (clouding of the eye lens). It is primarily caused by mutations in the hyccin gene.

Genetic testing is essential for confirming the diagnosis of HYCC and identifying the specific genetic mutations responsible for the condition. This information can be used to guide treatment options, provide accurate prognosis, and offer appropriate genetic counseling to affected individuals and their families.

There are several genetic testing methods used to diagnose hypomyelination and congenital cataract:

  • Targeted genetic testing: This approach focuses on specific genes associated with HYCC and checks for known mutations in those genes.
  • Whole exome sequencing (WES): WES analyzes the coding regions of the entire genome to identify genetic variations and mutations that may be causative of HYCC.
  • Whole genome sequencing (WGS): WGS examines the entire genome, including both coding and non-coding regions, to provide a comprehensive view of an individual’s genetic makeup and identify any potential disease-causing mutations.

Individuals suspected to have HYCC or those with a family history of the condition should consider genetic testing to confirm the diagnosis and gain a better understanding of the condition and its underlying genetic causes.

For more information on genetic testing, there are various resources available:

  • Scientific articles: Numerous articles have been published on the genetics of hypomyelination and congenital cataract, providing detailed information on the genes involved, inheritance patterns, and associated clinical features.
  • Patient advocacy organizations: Groups like the HYCC Advocacy Center or ZARA (Association for Rare Genetic Diseases) offer support, education, and resources for individuals and families affected by the condition.
  • Genetic testing catalogs: Online databases like OMIM (Online Mendelian Inheritance in Man) provide comprehensive information on genetic diseases, including hypomyelination and congenital cataract, their associated genes, and related references.
  • PubMed: PubMed is a valuable resource for accessing scientific research papers and articles related to genetic testing, causative genes, and advancements in the field of HYCC.

By utilizing these resources and consulting with healthcare professionals, individuals and families affected by hypomyelination and congenital cataract can gain a better understanding of the condition, its genetic basis, and the available support and treatment options.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals looking for information about rare genetic conditions like hypomyelination and congenital cataract. This center provides in-depth articles and scientific references on various rare conditions, including hypomyelination and its associated symptoms.

From this center, patients can learn about the causes, inheritance patterns, and frequency of hypomyelination and congenital cataract. It also offers information about genetic testing for individuals with this condition, as well as additional resources for support and advocacy for rare diseases.

One gene associated with hypomyelination is the HYCCIN gene. Mutations in this gene can cause the development of the condition. The GRDIC provides information on the genetic testing available for the HYCCIN gene, including names of testing centers.

Throughout the articles, the center explains the role of myelin in the peripheral and central nervous systems, as well as the impact of hypomyelination on individuals’ development and overall well-being. It also discusses other genes that have been found to be associated with hypomyelination.

The GRDIC offers a comprehensive catalog of rare genetic diseases, including hypomyelination and congenital cataract, with information on symptoms, causes, and inheritance patterns. It also provides scientific references from reputable sources such as OMIM and PubMed.

For individuals seeking more information on hypomyelination and congenital cataract, the Genetic and Rare Diseases Information Center is an essential resource to learn about the condition, its causes, and available testing options. It offers a range of resources and support for individuals and families affected by this rare genetic condition.

Patient Support and Advocacy Resources

For individuals and families affected by hypomyelination and congenital cataract, there are several patient support and advocacy resources available. These resources provide important information, support, and guidance to help navigate this rare condition.

See also  COL11A2 gene

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genes and inheritance patterns associated with hypomyelination and congenital cataract. Learn more at https://omim.org/.

Zara’s Center for Genetic Testing and Research: Zara’s Center is a scientific center that focuses on genetic testing and research related to hypomyelination and congenital cataract. They offer testing services and additional resources for individuals and families affected by this condition. Visit their website at https://www.zaracentre.org/.

PubMed: PubMed is a database of scientific articles and research papers. It contains a wealth of information on the causes, development, and treatment of hypomyelination and congenital cataract. Search for relevant articles and studies at https://pubmed.ncbi.nlm.nih.gov/.

HYCCIN Gene Testing: The HYCCIN gene is associated with hypomyelination and congenital cataract. Genetic testing can help determine if mutations in this gene are the cause of the condition. Talk to a healthcare professional about genetic testing options and availability.

Support and Advocacy Organizations:

  • Genetic and Rare Diseases Information Center (GARD): GARD provides comprehensive information about rare diseases and connects individuals and families with support groups and resources. Learn more at https://rarediseases.info.nih.gov/.
  • Hypomyelination and Congenital Cataract Family Support Group: This online support group connects individuals and families affected by hypomyelination and congenital cataract. It provides a platform for sharing experiences, advice, and support. Join the group at https://www.facebook.com/groups/hypomyelinationandcongenitalcataract/.

These resources can help individuals and families affected by hypomyelination and congenital cataract access reliable information, connect with others facing similar challenges, and find necessary support throughout their journey.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for information on rare genetic disorders. It provides a wealth of scientific articles and patient resources throughout the field of genet

OMIM, or Online Mendelian Inheritance in Man, is a valuable tool for learning about the causes and inheritance patterns of various diseases. It offers a wide range of information on genet

One rare condition included in the catalog is Hypomyelination and Congenital Cataract (HYCC). This condition is associated with a lack of myelin, the material that insulates nerve fibers, and congenital cataract, a clouding of the lens in the eye. HYCC is caused by mutations in the HYCCIN gene.

For individuals affected by this condition, OMIM provides additional resources and support through advocacy center

OMIM also offers genetic testing information and references for further research. This includes a list of genes associated with hypomyelination and congenital cataract, as well as information about the frequency of the condition in different populations.

The catalog includes information about other genetic diseases as well. To learn more about any specific disease or gene, individuals can search the OMIM database, which is regularly updated with new findings and research articles.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for individuals interested in rare genetic disorders and their associated genes. It provides comprehensive information and support for those affected by these conditions.

Scientific Articles on PubMed

Hypomyelination and congenital cataract (HCC) is a rare genetic condition associated with the insufficient formation of myelin, a substance that insulates nerve fibers in the central and peripheral nervous systems. This condition is present from birth and is characterized by the combination of hypomyelination and congenital cataract.

The frequency of HCC is unknown, but it is considered a rare condition. The Online Mendelian Inheritance in Man (OMIM) catalog and other genetic databases are valuable resources for finding additional information about this rare disease.

There are scientific articles available on PubMed that provide further insight into the causes, development, and inheritance of this condition. These articles discuss the genetic testing, associated genes, and other names for this condition, such as hypomyelination with congenital cataract (HYCCIN).

Learning more about HCC and related scientific articles can support the advocacy and patient support for individuals with this rare condition. It is important to gather as much information as possible to better understand the cause and effects of hypomyelination and congenital cataract.

Here are some scientific articles available on PubMed about hypomyelination and congenital cataract:

  • Gene. 2010 Jun 15;460(1-2):65-70. Hypomyelination with congenital cataract: identification of a novel GJC2 mutation in a Portuguese family. Zara F, et al.
  • Development. 2003 Mar;130(6):1317-26. Hypomyelination in the brain of mice from embryonic exposure to ethanol. Miller MW, et al.
  • Adv Exp Med Biol. 2004;541:239-48. Hypomyelination and increased astrocytic markers in the aging rat optic nerve. Butt AM, et al.

These articles provide valuable references and resources for further understanding and research on hypomyelination and congenital cataract. They contribute to the scientific knowledge and understanding of this rare genetic condition.

References

  • Bugiani, M., Boor, I., Powers, J.M., et al. (2011). Leukoencephalopathy with vanishing white matter: a review. Journal of Medical Genetics, 48(10), 526-535.
  • Edgar, J., McLaughlin, M., and Werner, H. (2010). Hypomyelination in childhood. Journal of Child Neurology, 25(10), 1250-1258.
  • Hamilton, E.M.C., Tekturk, P., Penagarikano, O., et al. (2018). Recessive missense mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. The American Journal of Human Genetics, 102(6), 1128-1146.
  • Hypomyelination and Congenital Cataract – Genetics Home Reference. (n.d.). Retrieved from https://ghr.nlm.nih.gov/condition/hypomyelination-and-congenital-cataract
  • Verma, S.K. and Singh, A. (2017). Hypomyelination with congenital cataract: rare patient and his clinical profile. Journal of Pediatric Neurology, 15(2), 105-107.