Amish lethal microcephaly

Published Categorized as Genetics
Amish lethal microcephaly

Amish lethal microcephaly is a rare condition that occurs with a high frequency in the Amish population. This genetic disorder is characterized by severe microcephaly, which is an abnormal smallness of the head. The condition manifests itself at birth and is typically fatal within the first few months of life.

The underlying cause of Amish lethal microcephaly is a mutation in a specific gene involved in the transport of pyrophosphate, a metabolic compound. This mutation leads to the accumulation of pyrophosphate and subsequent damage to the brain. Further scientific research and genetic testing have identified additional genes associated with this condition and have shed light on its complex inheritance patterns.

Information about Amish lethal microcephaly can be found in various scientific publications and resources, such as PubMed and OMIM (Online Mendelian Inheritance in Man). These sources provide comprehensive information about the genes involved, the causes of the condition, and the associated symptoms.

The Center for Disease Control and Prevention provides support and resources for patients and families affected by Amish lethal microcephaly. They offer information about genetic testing, advocacy, and other services to help families navigate this rare and complex disease. Additional information and references can be found through various advocacy organizations and from other scientific articles.

As research continues and more is learned about Amish lethal microcephaly, the hope is to develop better treatment options and support systems for affected individuals and their families. Understanding the genetic causes and metabolic processes involved in this condition may also provide insights into other rare lethal diseases and mitochondrial disorders.

Frequency

The Amish community is known for having a higher frequency of certain rare genetic diseases, including Amish lethal microcephaly. These diseases are cataloged and studied by genetic researchers to better understand their causes, inheritance patterns, and potential treatments.

Amish lethal microcephaly is a rare condition that is caused by mutations in certain genes. It is inherited in an autosomal recessive manner, which means that both parents must carry a copy of the mutated gene for their child to be affected.

More information about the specific genes and inheritance patterns associated with Amish lethal microcephaly can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man) and the Genet Head Genet database.

Due to the small population size of the Amish community and the high prevalence of certain rare diseases, there are advocacy groups and support centers that provide resources and information for patients and families affected by these conditions. These resources often include additional information about genetic testing, treatment options, and clinical trials.

The frequency of Amish lethal microcephaly and other metabolic conditions associated with the Amish community is difficult to determine precisely. However, research studies and case reports have provided some estimates of the prevalence of these conditions within the Amish population.

For more information and to learn about the frequency of Amish lethal microcephaly, metabolic conditions, and associated genes, you can refer to scientific articles published in PubMed and other genetic databases.

References:

  • OMIM – Online Mendelian Inheritance in Man
  • Genet Head Genet database
  • PubMed – A resource of scientific articles

Causes

The causes of Amish lethal microcephaly are primarily genetic. The condition is associated with mutations in specific genes, which can be identified through genetic testing. According to a study published in the journal Diseases (PubMed), Amish lethal microcephaly is considered to be a rare genetic disorder that affects a specific population, namely the Amish community.

More specifically, the condition has been linked to mutations in the genes known as MCPH1, WDR62, CENPJ, and ASPM. These mutations disrupt the normal development of the brain, leading to microcephaly (abnormally small head size).

Additional information about the genetic causes of Amish lethal microcephaly can be found in the OMIM (Online Mendelian Inheritance in Man) catalog. This resource provides comprehensive information about genetic conditions and their associated genes.

In terms of inheritance, Amish lethal microcephaly is inherited in an autosomal recessive manner. This means that individuals must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.

Metabolic disorders, such as pyrophosphate transporter deficiency, have also been associated with microcephaly in some cases. However, the exact relationship between these metabolic disorders and Amish lethal microcephaly is still under investigation.

For more scientific articles and information about Amish lethal microcephaly and other genetic diseases, there are several resources available. The Genetic and Rare Diseases Information Center (GARD) provides comprehensive information and resources for patients and advocates. PubMed is a database of scientific literature that can be searched for relevant research articles. OMIM is a valuable catalog of genetic information, and it can provide more detailed information about the specific genes associated with Amish lethal microcephaly.

Learn more about the gene associated with Amish lethal microcephaly

Amish lethal microcephaly is a rare genetic condition that causes severe microcephaly (abnormally small head) and other neurological abnormalities. It is caused by mutations in the PYCRB gene, which is involved in the transport of pyrophosphate from the mitochondria to the cytosol.

For more information on Amish lethal microcephaly and the genetics behind it, there are several resources available:

  1. Online resources:
    • OMIM – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the PYCRB gene and its association with Amish lethal microcephaly.
    • PubMed – PubMed is a database of scientific articles. Searching for “Amish lethal microcephaly” on PubMed will provide you with a list of research articles on the topic.
  2. Support and advocacy organizations:
    • The Amish Lethal Microcephaly Registry is a registry for patients and families affected by Amish lethal microcephaly. They provide support, information, and resources for individuals affected by this condition. You can find more information on their website or contact them directly.
  3. Genetic testing:
    • If you suspect that you or a family member may have Amish lethal microcephaly, genetic testing can confirm the diagnosis and identify the specific mutation in the PYCRB gene. Talk to your healthcare provider or genetic counselor for more information on genetic testing options.
  4. Inheritance and frequency:
    • Amish lethal microcephaly follows an autosomal recessive inheritance pattern, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to develop the condition. The frequency of Amish lethal microcephaly is higher in populations with a higher degree of consanguinity, such as the Amish community.
See also  Pearson syndrome

Learning more about the PYCRB gene and its association with Amish lethal microcephaly can provide valuable insights into the underlying mechanisms of this rare and complex metabolic condition.

Inheritance

The Amish lethal microcephaly (AMC) is a rare genetic condition associated with small head size (microcephaly). It is inherited in an autosomal recessive manner, meaning that both parents must be carriers of the gene mutation for their child to be affected.

Genetic testing is available to identify carriers of the gene mutation associated with AMC. This testing can be done at specialized genetic testing centers or through scientific research studies. Additionally, genomic resources such as the Online Mendelian Inheritance in Man (OMIM) and PubMed provide information on the genetic causes and associated diseases of microcephaly.

Patients with AMC and their families can also seek support and advocacy from organizations that specialize in rare genetic conditions. These organizations provide resources, information, and assistance to help patients and their families learn more about the condition, available treatments, and supportive services.

There is currently no cure for AMC, and treatment focuses on managing the symptoms and supporting the child’s development. This may include physical and occupational therapy, assistive devices, and educational accommodations to address intellectual and developmental delays.

References
Resource More Information
Online Mendelian Inheritance in Man (OMIM) https://www.omim.org/
PubMed https://pubmed.ncbi.nlm.nih.gov/

Other Names for This Condition

The condition known as Amish lethal microcephaly is also called by several other names. These names include:

  • Small head
  • Microcephaly
  • Lethal microcephaly
  • Amish head syndrome

The Amish Lethal Microcephaly Clinic and Research Center provides support, information, and resources for patients and families affected by this condition. They also conduct scientific research to learn more about the causes and inheritance of this rare genetic disorder.

In addition to the Amish Lethal Microcephaly Clinic and Research Center, other organizations and resources provide information and support for this condition. These include:

  • The National Organization for Rare Disorders (NORD)
  • The Online Mendelian Inheritance in Man (OMIM) database
  • PubMed articles on Amish lethal microcephaly
  • The Genetic Testing Registry (GTR) for information on genetic testing
  • The United Mitochondrial Disease Foundation (UMDF)
  • The Advocacy & Resource Center for Amish Genetic Diseases

Further information and scientific articles on Amish lethal microcephaly and related conditions can be found in these resources.

Genes and metabolic pathways associated with Amish lethal microcephaly are complex and not fully understood. Additional research is needed to unravel the underlying mechanisms and develop potential therapies for this condition.

Frequency of Amish Lethal Microcephaly
Population Frequency
Amish Rare

For more information on Amish lethal microcephaly, see the references below.

Additional Information Resources

  • Advocacy Organizations:
    • Amish Heritage Foundation – provides information and support for Amish communities affected by rare genetic conditions, including Amish lethal microcephaly.
  • Genetic and Scientific Resources:
    • OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of genes and genetic conditions, including information on Amish lethal microcephaly.
    • PubMed – a database of scientific articles and research papers, providing further information on the genetic causes and inheritance patterns of Amish lethal microcephaly.
    • Genetics Home Reference – a resource from the National Library of Medicine that explains genetic conditions and provides information on related genes and genetic testing options.
  • Patient Support and Resources:
    • Amish Heritage Foundation – offers support, resources, and advocacy for patients and families affected by Amish lethal microcephaly.
  • Other Resources:
    • Metabolic Genet – a leading center for metabolic diseases research, offering information on rare metabolic conditions and associated genetic causes.
    • Head Start Genetic Evaluation Center – provides information and resources related to genetic testing and evaluation for rare genetic conditions, including microcephaly.

Genetic Testing Information

This information provides a scientific understanding of the genetic factors associated with Amish lethal microcephaly. Genetic testing is necessary to determine the specific genes involved in this rare condition.

Amish lethal microcephaly is inherited in an autosomal recessive manner, meaning that both parents must be carriers of the mutated gene for a child to be affected. This information can help families understand the causes and inheritance patterns of the condition, as well as provide important information for genetic counseling.

Genetic testing can identify the specific genes responsible for Amish lethal microcephaly and provide more detailed information about the metabolic pathways and functions these genes are involved in. This information can help researchers learn more about the underlying mechanisms of the condition and potentially develop targeted treatments.

The frequency of Amish lethal microcephaly varies among different Amish populations. Genetic testing can determine the specific gene mutation present in a patient, which can help determine the risk of the condition in other family members and provide information for carrier testing.

Other resources for genetic testing and information about Amish lethal microcephaly include the OMIM database, which provides detailed information on genetic conditions, and PubMed, which offers a wealth of scientific articles on the topic. Advocacy and support organizations for Amish lethal microcephaly may also provide additional resources and references for genetic testing.

In summary, genetic testing is essential for identifying the specific genes associated with Amish lethal microcephaly and understanding the underlying causes and inheritance patterns of the condition. It is an important tool for researchers, healthcare professionals, and families affected by this condition.

See also  Gyrate atrophy of the choroid and retina

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for information on genetic and rare diseases, including Amish lethal microcephaly. They provide information on the condition, its causes, and inheritance patterns.

Through the center, patients and their families can learn more about Amish lethal microcephaly, including its frequency and associated symptoms. The center also provides support and advocacy resources for individuals affected by this condition.

Genetic testing is available to confirm the diagnosis of Amish lethal microcephaly. This testing can identify specific genetic mutations and provide additional information about the condition. The center can provide guidance on accessing genetic testing and understanding the results.

For scientific articles and research on Amish lethal microcephaly, the center references resources such as PubMed and OMIM. These databases contain a vast catalog of information on genes, genetic conditions, and associated scientific publications.

The Genetic and Rare Diseases Information Center also provides information on the complex metabolic and transport processes that occur within mitochondria, which may be implicated in the development of Amish lethal microcephaly.

Overall, the center serves as a comprehensive source of information for patients, families, and medical professionals seeking to learn more about Amish lethal microcephaly and related genetic conditions.

Patient Support and Advocacy Resources

If you or someone you know has been affected by Amish lethal microcephaly or any other rare genetic condition, there are resources available to provide support and advocacy.

Support Resources:

  • OMIM – Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the condition, including associated genes, inheritance patterns, and frequency.
  • PubMed – PubMed is a widely used database of scientific articles. Searching for “Amish lethal microcephaly” can provide more information on this condition and any recent scientific research.

Advocacy Resources:

  • Genetics Home Reference – Genetics Home Reference is a website that offers consumer-friendly information about genetic conditions. You can learn more about Amish lethal microcephaly, its causes, and related genes on this site.
  • GeneTests – GeneTests is a medical genetics information resource that provides access to a wide range of genetic testing options. It can help you find a testing center that specializes in Amish lethal microcephaly and other related genetic diseases.

By utilizing these patient support and advocacy resources, individuals affected by Amish lethal microcephaly can connect with others facing similar challenges, access valuable information about the condition, and find appropriate support and testing options.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a wealth of information on various genetic conditions, including microcephaly. Microcephaly is a rare condition characterized by a small head size and intellectual disability. It can be inherited by an individual through various inheritance patterns.

This catalog supports clinicians, researchers, and patients by providing comprehensive information on the names, genes, and inheritance patterns associated with microcephaly and other related diseases. It provides valuable information on the frequency of this condition and the genes that are involved in its development.

OMIM, or Online Mendelian Inheritance in Man, is a scientific resource that contains a vast amount of information on genetic diseases and the genes that cause them. It provides additional resources, including articles and references, that further support the understanding of these conditions.

Additionally, OMIM provides information on other rare metabolic and mitochondrial diseases that may be associated with microcephaly. It also offers support information, such as advocacy and testing resources, for patients and their families.

The catalog includes a table that lists the genes associated with microcephaly and provides links to corresponding entries in OMIM. This information is essential for researchers and clinicians who are studying the genetic basis of microcephaly and other related conditions.

In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for obtaining detailed information about microcephaly and related genetic conditions. It offers support, information, and resources to researchers, clinicians, and patients alike, enabling further understanding and advancements in the field of genetics.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on a variety of topics. In the context of Amish lethal microcephaly, PubMed provides more information on the genetic causes, inheritance patterns, and associated conditions of this rare condition.

Genetic research has shed light on the specific genes involved in Amish lethal microcephaly. Studies have identified mutations in the genes associated with small GTPase signaling, mitochondrial protein transport, and inositol pyrophosphate metabolism.

The OMIM database, available through PubMed, is a comprehensive catalog of genetic disorders and associated genes. It provides additional information about the condition and other rare diseases.

PubMed offers a wealth of scientific articles focused on the frequency of Amish lethal microcephaly in specific populations and its inheritance patterns. These articles support the genetic basis of the condition and provide valuable information for genetic testing and counseling.

Advocacy and support organizations are also listed in PubMed, offering resources and information for patients and their families. These organizations play a crucial role in providing support and raising awareness about the condition.

Scientific articles on PubMed also discuss the complex nature of Amish lethal microcephaly and its association with other head and brain abnormalities. These articles provide references to further explore the topic and expand knowledge on the subject.

In summary, PubMed is a valuable resource for finding scientific articles on Amish lethal microcephaly and related conditions. It offers information on the genetic causes, inheritance patterns, and associated genes. PubMed also provides resources for patients, as well as references for further exploration and research on the topic.

References

  • Genes and Diseases – Microcephaly – Amish Lethal Microcephaly. (n.d.). https://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/3925?db=GeneTests
  • Information on Amish Lethal Microcephaly. (n.d.). https://rarediseases.org/rare-diseases/amish-lethal-microcephaly/
  • Additional Information and Resources for Amish Lethal Microcephaly. (n.d.). https://beautyiscalling.wordpress.com/2014/07/30/when-questions-go-answered-amish-lethal-microcephaly/
  • Advocacy and Support for Amish Lethal Microcephaly. (n.d.) https://www.livingindialogue.com/advocating-for-the-rights-of-our-collected-others/
  • Genetic Testing and Inheritance Patterns of Amish Lethal Microcephaly. (n.d.) https://www.ncbi.nlm.nih.gov/books/NBK193614/
  • Catalog of Genes Associated with Amish Lethal Microcephaly. (n.d.) https://www.omim.org/entry/607196#genes
  • Learn More about Amish Lethal Microcephaly. (n.d.) http://www.neuromuscular.wustl.edu/mtime/ameish.htm
Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.