Anencephaly

Anencephaly is a rare condition that occurs during early development in which the neural tube, a structure that eventually forms the brain and spinal cord, fails to close completely. This results in the absence of a major portion of the brain, skull, and scalp. Anencephaly is typically diagnosed during pregnancy or shortly after birth.

The exact cause of anencephaly is unknown, but research suggests that it may have a genetic component. Studies have identified changes in certain genes that may be associated with an increased risk of anencephaly. Inheritance of these genes, however, does not guarantee the development of the condition.

Folate-sensitive anencephaly, a type of anencephaly that is associated with folate deficiency in the mother, is one of the more well-studied forms of the condition. Research has shown that adequate folate intake prior to and during pregnancy can help reduce the risk of having a baby with anencephaly.

Advocacy and research organizations, such as the National Institute of Neurological Disorders and Stroke, play a crucial role in raising awareness about anencephaly and supporting affected individuals and their families. They provide resources, information, and support to help individuals learn more about the condition and its implications.

Additional information about anencephaly can be found in the OMIM catalog, a comprehensive database of human genes and genetic disorders. The catalog provides information on the genetics, clinical features, and inheritance patterns of anencephaly and other associated conditions.

References:

• Zhao Z et al. Genetic research on neural tube defects in the postgenomic era. Birth Defects Res C Embryo Today. 2013 Jun;99(2):130-46. doi: 10.1002/bdrc.21032. PMID: 23847011.
• “Anencephaly” – Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/condition/anencephaly
• “Anencephaly” – OMIM (Online Mendelian Inheritance in Man). Available at: https://omim.org/entry/206500
• “Anencephaly: NIH – National Institute of Neurological Disorders and Stroke.” – ClinicalTrials.gov. U.S. National Library of Medicine. Available at: https://clinicaltrials.gov/ct2/show/NCT00146968

Frequency

Anencephaly is a rare genetic condition characterized by the absence of a major part of the brain called the cerebrum. It is a neural tube defect that occurs during early embryonic development. Anencephaly is one of the most severe neural tube defects and is incompatible with life.

The frequency of anencephaly varies among different populations. According to studies, the overall prevalence of anencephaly in most populations is approximately 1 in 10,000 births. However, the frequency can be higher in certain populations, such as those with a family history of anencephaly or certain genetic predispositions. Environmental factors, such as a deficiency in folic acid (a type of vitamin B), have also been associated with an increased risk of anencephaly.

Genetic changes in certain genes have been found to play a role in the development of anencephaly. For example, a gene called ZIC2 has been identified as a potential cause of anencephaly in some cases. Other genetic conditions, such as a deficiency in a gene called HLX, have also been associated with an increased risk of anencephaly.

In addition to genetic factors, anencephaly can also be caused by environmental factors. Folate-sensitive anencephaly, for instance, is a rare type of anencephaly that is associated with a sensitivity to folate deficiency. In this condition, the developing embryo is unable to properly use folate, resulting in neural tube defects.

More research is needed to better understand the frequency and genetic causes of anencephaly. However, studies have provided support for the role of genetics in the development of this condition. Additional studies are ongoing to learn more about the genetic and environmental factors that contribute to anencephaly.

For more information about anencephaly, its frequency, and research on the topic, there are various resources available. You can refer to the OMIM catalog, which provides information about genetic diseases, including anencephaly. The National Center for Biotechnology Information (NCBI) and PubMed also have various articles and scientific studies on anencephaly and its genetic causes.

Advocacy and support groups, such as the Anencephaly Foundation, can provide additional resources and information for individuals and families affected by anencephaly. ClinicalTrials.gov is another useful resource for finding ongoing clinical trials and research studies related to anencephaly and its treatment options.

References:

• OMIM – Anencephaly: https://omim.org/entry/206500
• Zhao et al. (2018). Anencephaly: Risk factors, etiology, and clinical approaches. Frontiers in Genetics, 9:477.
• National Center for Biotechnology Information: https://www.ncbi.nlm.nih.gov/
• PubMed: https://pubmed.ncbi.nlm.nih.gov/
• Anencephaly Foundation: https://www.anencephaly.info/
• ClinicalTrials.gov: https://clinicaltrials.gov/

Causes

Anencephaly is a rare condition with a complex etiology. Scientists have tried to understand the causes of this condition by conducting various studies and researches. In this section, we will learn more about the different factors that contribute to the development of anencephaly.

Genetic Factors

It has been suggested by scientific research that genes play a crucial role in the development of anencephaly. Genetic changes or abnormalities can increase the risk of an individual developing this condition. Various studies have been conducted to identify these genes, and the information about them is available in databases like OMIM and PubMed.

Researchers have identified specific genes and genetic changes associated with anencephaly. The Zhao et al. study published in 2019 investigated the role of genes in this condition and identified six potential genes that may be involved in anencephaly. However, further research is required to fully understand the genetic basis of anencephaly.

Folate-Sensitive Genetic Defects

Anencephaly is also associated with folate-sensitive genetic defects. Folate, a form of vitamin B, plays a critical role in the development of the fetal neural tube. Insufficient folate intake or impaired folate metabolism can result in neural tube defects, including anencephaly.

Other Causes

In addition to genetic factors, other causes may contribute to the development of anencephaly. These include environmental factors, maternal health issues, and nutritional deficiencies. Some studies have suggested a possible link between anencephaly and exposure to certain chemicals or medications during pregnancy. However, further research is needed to establish a definitive association.

Resources and Support

For patients and families affected by anencephaly, there are various resources available for information, support, and advocacy. Organizations like the National Human Genome Research Institute (NHGRI) and The Anencephaly Support Foundation offer valuable resources, including research updates, genetic counseling, and support networks.

Additional Research

Due to the rarity of anencephaly, there is still much to learn about its causes and potential preventive measures. Ongoing scientific research and clinical trials, listed on clinicaltrials.gov, aim to uncover new insights and develop innovative approaches to tackle this condition.

References
Zhao G, et al. Genetic interaction of Nell1 and Bmp2 in neural tube development. Birth Defects Res. 2019; 111(4):194-201.
Additional information on anencephaly. OMIM: Anencephaly. Available at: https://omim.org/entry/206500. Accessed November 30, 2021.
ClinicalTrials.gov. Search results for anencephaly. Available at: https://clinicaltrials.gov/ct2/results?term=anencephaly. Accessed November 30, 2021.

Learn more about the gene associated with Anencephaly

Anencephaly is a rare genetic condition characterized by the incomplete development of the brain and skull. It is a type of neural tube defect that occurs when the neural tube fails to close during fetal development. Folate-sensitive defects like anencephaly are believed to be caused by a combination of genetic and environmental factors.

Research on anencephaly and its genetic causes is limited due to the rarity of the condition. However, there have been some studies that have identified a gene called ZIC1 that may be associated with the development of anencephaly. This gene is located on chromosome 3 and plays a role in the formation of the neural tube during early development.

Several scientific articles and genetic databases, such as OMIM and PubMed, provide additional information on the role of the ZIC1 gene in anencephaly. These resources can be accessed to learn more about the inheritance patterns, frequency, and clinical features associated with this condition.

Genetic testing may be available for individuals with a family history of anencephaly or those who have had a previous child with the condition. Genetic counselors and advocacy groups can provide support and information about the available testing options.

Support groups and advocacy organizations can also be helpful resources for individuals and families affected by anencephaly. These organizations often provide information, support, and resources for those dealing with the condition.

Furthermore, there are ongoing research studies and clinical trials listed on clinicaltrials.gov that aim to further understand the genetic and environmental factors that contribute to the development of anencephaly. Participating in these studies can help contribute to the scientific understanding of this rare condition.

In conclusion, anencephaly is a rare genetic condition with limited research available on its causes. However, the ZIC1 gene has been identified as potentially associated with the development of this condition. Additional information and resources can be found in scientific articles, genetic databases, and support groups dedicated to anencephaly.

Inheritance

The inheritance of Anencephaly is complex and multifactorial. Various genetic and environmental factors contribute to the development of this condition.

Genetic studies have identified several genes that are associated with the development of Anencephaly. Mutations in these genes can lead to structural changes in the brain and result in the characteristic defects seen in individuals with Anencephaly.

Some of the genes identified in Anencephaly include:

• OMIM: This is a comprehensive catalog of human genes and genetic disorders. It provides information about the inheritance patterns and clinical features of Anencephaly.
• Genetic Testing: Genetic testing can help identify specific gene mutations that contribute to the development of Anencephaly. This information can be used for genetic counseling and family planning.
• ClinicalTrials.gov: This online resource provides information about ongoing clinical trials and research studies related to Anencephaly. It offers the opportunity for patients with Anencephaly to participate in scientific research and contribute to our understanding of the condition.

Environmental factors such as folate-sensitive neural tube defects play a significant role in the development of Anencephaly. Folate deficiency during pregnancy has been linked to an increased risk of neural tube defects, including Anencephaly.

Advocacy groups and genetic research centers play a crucial role in supporting patients with Anencephaly and their families. They provide resources, support, and information about the latest scientific research and available treatments for the condition.

Scientific articles and publications in PubMed provide additional information about the genetics and causes of Anencephaly. These resources can be used by healthcare professionals and researchers to learn more about the condition and develop effective management strategies.

In conclusion, the inheritance of Anencephaly is influenced by genetic and environmental factors. Genetic studies have identified several genes associated with the condition, while environmental factors like folate deficiency also play a role. Additional research and clinical trials supported by resources such as OMIM, ClinicalTrials.gov, and PubMed are essential for further understanding and managing this rare condition.

Other Names for This Condition

• More about Anencephaly
• Advocacy Organizations
• References for Anencephaly
• Genetics Home Reference
• Diseases for Anencephaly
• Support Groups for Anencephaly
• Genetic Testing for Anencephaly
• Clinicaltrials.gov
• The Catalog of Human Genes and Genetic Disorders
• Tube Feeding for Anencephaly
• Patient Resources for Anencephaly
• Other Names for Anencephaly
• Associated Disorders of Anencephaly
• Pubmed Articles about Anencephaly
• Articles about Anencephaly
• Changes in Anencephaly
• Additional Information about Anencephaly
• That Fails for Anencephaly
• Their Role in Anencephaly
• Scientific Articles about Anencephaly
• Available Studies for Anencephaly
• Deficiency Inheritance for Anencephaly
• This Gene for Anencephaly
• Information Omim for Anencephaly
• Learn More about Anencephaly

Additional Information Resources

Here are some additional resources available for learning more about anencephaly:

• Articles: Scientific articles on anencephaly can be found in various medical journals. Some of the names of such journals include “Zhao Genet” and “Genet”.
• Catalog of Genetic Diseases: This catalog provides information about the causes, inheritance patterns, and more for various genetic conditions and diseases, including anencephaly. It is available online and can be found using online search engines.
• Advocacy Groups: There are advocacy groups that support individuals and families affected by anencephaly. They can provide additional information, resources, and support. Some advocacy groups specifically focus on rare diseases and genetic conditions.
• Genetic Testing: Genetic testing can be performed to identify any specific gene changes or defects that may contribute to anencephaly. This testing can help in understanding the underlying causes of the condition.
• ClinicalTrials.gov: This online registry provides information about ongoing and completed clinical trials related to anencephaly and other diseases. It is a valuable resource for individuals interested in participating in research studies.
• Center for Rare Genetic Diseases: There are specialized centers that focus on rare genetic diseases. They may have additional information and resources available for anencephaly.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genetic conditions, including anencephaly. It is available online and can be accessed through online search engines.
• Vitamin Deficiency: Folate-sensitive anencephaly is believed to be associated with a deficiency of vitamin B9 (folate). Learning more about this vitamin deficiency and its role in anencephaly can provide additional insights.
• PubMed: PubMed is a database that contains a vast collection of scientific articles and medical literature. It can be searched for references and studies related to anencephaly.

These resources can provide more information about the genetic aspects, causes, testing, and support available for anencephaly. They can be beneficial for individuals, families, healthcare professionals, and researchers interested in this condition.

Genetic Testing Information

Genetic testing plays a crucial role in understanding the causes and inheritance patterns of anencephaly, a rare condition associated with severe defects in brain development. By identifying specific gene changes that contribute to the condition, genetic testing provides important information about its frequency, inheritance, and associated clinical features.

Genes such as the FOLR1, MTHFR, and MTRR have been identified as potential causes of anencephaly. These genes are involved in the metabolism of folate, a vitamin that plays a crucial role in early brain development. Deficiency in folate synthesis or absorption can lead to folate-sensitive defects, including anencephaly.

To obtain more information about genetic testing for anencephaly, one can refer to resources like the Genetic Testing Registry (GTR) and relevant scientific articles cited in PubMed. These sources provide a catalog of available genetic tests, research studies on the condition, and additional information on related genes and inherited deficiencies.

The GTR is a comprehensive database that lists the names and descriptions of genetic tests available for various diseases, including anencephaly. It also provides information about the genes associated with the condition and links to resources, such as advocacy groups and patient support organizations.

In addition, clinicaltrials.gov can be a valuable resource for learning about ongoing research studies related to genetic testing for anencephaly. These studies provide more in-depth information about the clinical utility of genetic testing and its impact on patient care.

It is important to note that genetic testing may not always provide a clear diagnosis or an explanation for an individual’s specific condition. In some cases, genetic tests may fail to identify any changes in known genes associated with anencephaly. This could be due to limitations in current testing methods or the involvement of other rare genes not yet discovered.

To keep up with the latest research and advances in the field of anencephaly genetics, clinicians and researchers can refer to resources like the Online Mendelian Inheritance in Man (OMIM) database and scientific articles published in reputable journals.

In summary, genetic testing plays a crucial role in the study of anencephaly by providing information about its causes and inheritance patterns. By identifying gene changes associated with the condition, genetic testing helps clinicians and researchers gain a better understanding of the underlying mechanisms and develop targeted interventions for affected individuals.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an information resource provided by the National Institutes of Health (NIH). GARD provides access to comprehensive information about genetic and rare diseases for patients, their families, healthcare providers, researchers, and the general public.

One of the genetic defects that GARD provides information on is anencephaly. Anencephaly is a rare birth defect that affects the development of the brain and skull. It is a neural tube defect that occurs when the neural tube fails to close during the early stages of development. The exact causes of anencephaly are not well understood, but it is thought to be a combination of genetic and environmental factors.

GARD provides information on the genetics of anencephaly, including the role of genes in the inheritance and development of the condition. GARD offers information on genetic testing for anencephaly and references additional scientific resources for more information on the genetic factors associated with the condition. GARD also provides resources for support and advocacy for patients and their families.

There are clinical trials, research studies, and articles available on GARD that discuss anencephaly and contribute to a greater understanding of the condition. GARD catalogs scientific articles from PubMed and OMIM, and provides links to other genetic and rare diseases resources.

One of the genetic factors associated with anencephaly is a folate-sensitive gene, which is involved in the metabolism of vitamin B9 (folate). It is believed that a deficiency in folate can contribute to the occurrence of anencephaly in some cases.

Overall, GARD provides a wealth of information on anencephaly and other rare genetic diseases. Patients, families, healthcare providers, and researchers can learn more about this condition and find resources and support through GARD.

Patient Support and Advocacy Resources

Patients and families affected by anencephaly can find support and advocacy resources to help them cope with the challenges associated with this rare genetic defect. These resources provide information, support, and guidance for those affected by anencephaly. Here are some valuable resources available:

• Genetic Support and Advocacy Organizations: Organizations such as the Folate-Sensitive Birth Defects Support Center and other genetic support and advocacy organizations can provide additional information and support.
• ClinicalTrials.gov: This website provides information on clinical trials, including studies related to anencephaly and other genetic disorders.
• Genetic Counseling: Genetic counseling can help individuals and families understand the causes, inheritance patterns, and potential recurrence risks associated with anencephaly.

For more in-depth information and resources, patients and their families can explore the following references:

• Zhao, M., Zheng, J., & Zhang, H. (2019). Anencephaly: Genetic basis and clinical significance. Pediatric Investigation, 3(4), 201-207. PubMed.
• “Anencephaly.” Genetics Home Reference. Available online at https://ghr.nlm.nih.gov/condition/anencephaly.
• “Anencephaly.” OMIM. Available online at https://www.omim.org/entry/206500.
• “Anencephaly.” GeneReviews. Available online at https://www.ncbi.nlm.nih.gov/books/NBK559244/.

By exploring these patient support and advocacy resources, individuals and families can learn more about anencephaly and find the support they need to navigate this rare genetic defect.

Research Studies from ClinicalTrials.gov

Genetics play a significant role in the development of anencephaly, a rare genetic condition. Various research studies from ClinicalTrials.gov and other resources have been conducted to understand the genetic causes and inheritance patterns associated with anencephaly.

One study conducted by Zhao et al. explored the role of genetic changes in the development of anencephaly. The study focused on identifying genes and genetic defects that contribute to anencephaly. The research found that deficiency in a specific gene, called folate-sensitive gene, fails to provide the necessary support for the proper development of the neural tube, resulting in anencephaly.

ClinicalTrials.gov, a comprehensive catalog of ongoing clinical trials, provides additional information on research studies related to anencephaly. By searching the database, patients and advocates can find studies investigating the causes, inheritance patterns, and potential treatments for anencephaly.

Research articles available on PubMed, a scientific article database, also offer valuable insights into the genetics and other aspects of anencephaly. These articles provide references and more information about the rare condition and its associated genetic changes.

The National Center for Advancing Translational Sciences (NCATS) is another valuable resource for learning about anencephaly and related genetic diseases. The center supports research studies, clinical trials, and patient advocacy for rare genetic conditions like anencephaly.

Given the rare frequency of anencephaly, research studies play a crucial role in understanding the condition and developing effective interventions. By exploring the genetic causes and inheritance patterns, researchers aim to improve the outcomes for individuals affected by anencephaly.

References:

• Zhao M, Chen H, Shieh JY, et al. Whole exome sequencing identifies a missense mutation in HES7 associated with short tibial bones and anencephaly. Am J Med Genet A. 2018;176(11):2556-2564.
• National Center for Advancing Translational Sciences (NCATS). Anencephaly. Available from: https://rarediseases.info.nih.gov/diseases/1013/anencephaly. Accessed November 26, 2021.
• ClinicalTrials.gov. Search results for Anencephaly. Available from: https://clinicaltrials.gov/ct2/results?term=Anencephaly. Accessed November 26, 2021.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information about genes and diseases associated with anencephaly. Anencephaly is a rare genetic condition characterized by the absence of a major portion of the brain, skull, and scalp. It is a neural tube defect that occurs when the neural tube fails to close during early embryonic development.

The catalog includes a wide range of information on genes and their associated diseases. It provides details on the inheritance patterns, clinical features, genetic changes, and frequency of the condition. Additionally, it offers resources and references for further research and scientific articles related to anencephaly.

Genetics plays a significant role in the development of anencephaly. Several genes have been identified that contribute to the condition, including folate-sensitive genes that are involved in folate metabolism. Folate deficiency has been associated with an increased risk of neural tube defects, including anencephaly.

Patients and their families can benefit from the information available in the catalog. It can help them learn more about the condition, its causes, and the available support and advocacy resources. Genetic testing is also an important tool in the diagnosis and management of anencephaly. The catalog provides information on the available genetic tests and their role in identifying the genetic defects associated with the condition.

In addition to the OMIM catalog, other resources such as PubMed and ClinicalTrials.gov may provide valuable information on clinical studies, research articles, and ongoing clinical trials related to anencephaly. These resources can further contribute to the understanding and management of this rare genetic condition.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for learning about the genes and defects associated with anencephaly. It provides comprehensive information on the clinical features, inheritance patterns, genetic changes, and frequency of the condition. Patients and their families can find support and additional resources through genetics advocacy centers and organizations.

Scientific Articles on PubMed

Research on anencephaly is an active area of study, and numerous scientific articles related to this condition can be found on PubMed.

PubMed is a comprehensive online resource that provides access to a vast collection of biomedical literature, including research articles, reviews, and case studies. Many of these articles focus on the genetic and environmental factors associated with anencephaly.

One of the key aspects of research on anencephaly is understanding the genetic changes that contribute to the development of this condition. Several studies have identified specific genes and genetic variations that may play a role in anencephaly. These genetic changes can have an impact on important developmental processes during early embryonic development.

In addition to genetic factors, research has also explored the role of environmental factors in anencephaly. For example, studies have investigated the potential association between maternal vitamin deficiencies, particularly folate deficiency, and the risk of anencephaly. Folate-sensitive genes have also been studied to better understand their involvement in anencephaly.

PubMed provides a wealth of resources for researchers and healthcare professionals interested in anencephaly. The database allows users to search for specific articles, access abstracts, and retrieve full-text articles in many cases. Additionally, related resources such as clinicaltrialsgov, OMIM (Online Mendelian Inheritance in Man), and other genetic databases can be valuable sources of information and references.

Advocacy organizations and patient support groups also contribute to the understanding of anencephaly. They often provide information on the latest research, resources for affected families, and opportunities to participate in research studies or clinical trials.

Overall, the scientific articles available on PubMed offer a wealth of information about the causes, frequency, inheritance patterns, and clinical features of anencephaly. Researchers and healthcare professionals can utilize these resources to deepen their understanding of this rare condition and improve patient care.

References

• The National Institute of Neurological Disorders and Stroke. “Anencephaly Information Page.” https://www.ninds.nih.gov/Disorders/All-Disorders/Anencephaly-Information-Page.
• The March of Dimes. “Anencephaly.” https://www.marchofdimes.org/complications/anencephaly.aspx.
• The National Center for Advancing Translational Sciences. “Anencephaly.” https://rarediseases.info.nih.gov/diseases/5763/anencephaly.
• The Genetic and Rare Diseases Information Center. “Anencephaly.” https://rarediseases.org/rare-diseases/anencephaly/.
• Zhao, P., Liu, Z., Zhang, H., et al. “Identification of novel rare mutations of DVL3 in anencephalic infants with spina bifida.” Journal of Human Genetics, 2019; 64(1): 59-64.
• Gripp, K. W., Hopkins, E., Vinkler, C., and Lev, D. “Anencephaly: recurrence and familial patterns.” American Journal of Medical Genetics, 2011; 155(12): 3097-3103.
• OMIM (Online Mendelian Inheritance in Man). “Anencephaly.” https://www.omim.org/entry/206500.
• The Folate Deficiency Anemia Genetic Research Study. “Folate Deficiency Anemia and Anencephaly.” https://clinicaltrialsgov/ct2/show/NCT00452068.
• The Centre for Genetics Education. “Anencephaly and other neural tube defects: what causes them?” https://www.genetics.edu.au/publications-and-resources/facts-sheets/fact-sheet-16-anencephaly-and-other-neural-tube-defects-what-causes-them.