COL4A1-related brain small-vessel disease is a rare genetic disorder that affects the small blood vessels in the brain. It is caused by mutations in the COL4A1 gene, which provides instructions for making a protein called collagen type IV alpha 1. Collagen is a major component of the connective tissue that supports the body’s organs and tissues.

Individuals with COL4A1-related brain small-vessel disease may experience a range of symptoms, including cerebral bleeding and breakage of the blood vessels in the brain. These symptoms can lead to neurological problems such as seizures, stroke-like episodes, and intellectual disability.

This condition is rare, and very little is known about its frequency within the population. However, research studies and clinical trials on COL4A1-related brain small-vessel disease are ongoing, aiming to learn more about the condition and develop treatments to support affected individuals.

For more information about COL4A1-related brain small-vessel disease, scientific articles and resources can be found on various websites such as PubMed, OMIM, and ClinicalTrials.gov. These sources provide additional information about associated genes, inheritance patterns, and other rare diseases that are associated with COL4A1-related brain small-vessel disease.

Frequency

COL4A1-related brain small-vessel disease is a rare genetic disorder caused by mutations in the COL4A1 gene. It is estimated to affect a small number of individuals worldwide.

Due to the rarity of this condition, advocacy groups and support networks play a vital role in providing resources and support for individuals and their families. These groups provide information about the condition, connect patients with similar experiences, and offer emotional support.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

Inheritance of COL4A1-related brain small-vessel disease follows an autosomal dominant pattern, meaning that individuals with a mutated copy of the COL4A1 gene have a 50% chance of passing the condition on to their children.

COL4A1 is a gene that provides instructions for making a protein called collagen type IV alpha-1. This protein is crucial for the normal development and maintenance of the blood vessels in the brain and other tissues. Mutations in the COL4A1 gene result in abnormal collagen production, leading to weakened blood vessels in the brain.

According to the Online Mendelian Inheritance in Man (OMIM) catalog, COL4A1 mutations have been associated with various conditions, including brain small-vessel disease, hemorrhagic stroke, porencephaly, and other brain abnormalities.

Scientific research and clinical trials are ongoing to learn more about the causes and effects of COL4A1-related brain small-vessel disease. These studies aim to understand the underlying mechanisms of the condition, identify potential treatment strategies, and improve patient outcomes.

More information about COL4A1-related brain small-vessel disease can be found through scientific articles, research papers, and resources available from reputable sources such as PubMed.

References
1. COL4A1-related brain small-vessel disease – Genetic and Rare Diseases Information Center (GARD). [Internet]. 2021 [cited 2021 April 15]. Available from: https://rarediseases.info.nih.gov/diseases/7076/col4a1-related-brain-small-vessel-disease
2. COL4A1 gene. [Internet]. Genetics Home Reference. 2021 [cited 2021 April 15]. Available from: https://ghr.nlm.nih.gov/gene/COL4A1
3. Possible COL4A1-related Cerebral Small Vessel Disease – Full Text View – ClinicalTrials.gov. [Internet]. ClinicalTrials.gov. 2021 [cited 2021 April 15]. Available from: https://clinicaltrials.gov/ct2/show/NCT04681499

Causes

COL4A1-related brain small-vessel disease is caused by mutations in the COL4A1 gene. This gene provides instructions for making one component of type IV collagen, a protein that is a major structural component of the body’s tissues. Mutations in the COL4A1 gene can result in abnormalities in the collagen molecule, leading to the breakage and bleeding of small blood vessels in the brain and other tissues.

Research studies have shown that this condition is inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, COL4A1-related brain small-vessel disease can also occur as a new mutation in an individual with no history of the condition in their family.

The frequency of COL4A1-related brain small-vessel disease is unknown, but it is considered a rare disorder.

Additional information about COL4A1-related brain small-vessel disease can be found on the websites of leading research organizations, patient advocacy groups, and support groups. These resources may provide further insights into the causes, symptoms, and treatments of this condition. Some of these resources include:

  • OMIM: Online Mendelian Inheritance in Man is a catalog of human genes and genetic disorders, including COL4A1-related brain small-vessel disease. It provides detailed information about the genetic causes and clinical features of this condition.
  • PubMed: An online database of scientific articles, PubMed contains a wealth of information about COL4A1-related brain small-vessel disease. By searching for relevant keywords, such as “COL4A1-related brain small-vessel disease” or “COL4A1 gene,” individuals can access scientific studies and research on this condition.
  • ClinicalTrials.gov: This website provides information about ongoing clinical trials related to COL4A1-related brain small-vessel disease. These studies may be exploring potential treatments, interventions, or other aspects of the condition.

Learning more about COL4A1-related brain small-vessel disease can help individuals and their healthcare providers better understand this rare and complex condition, and may support the development of new treatments and interventions.

Learn more about the gene associated with COL4A1-related brain small-vessel disease

The COL4A1 gene, also known as “collagen type IV alpha 1,” is a gene within the COL4A1-related brain small-vessel disease condition. This gene is associated with a rare disorder that affects the small blood vessels in the brain.

See also  21-hydroxylase deficiency

COL4A1-related brain small-vessel disease is characterized by the breakdown of collagen molecules in the cerebral tissue, leading to the weakening of blood vessel walls. This condition can cause bleeding in the brain and other neurological problems.

This gene plays a critical role in the structure and stability of blood vessels. Mutations or changes in the COL4A1 gene can disrupt the normal function of collagen and lead to the development of COL4A1-related brain small-vessel disease.

Research and studies on this gene have provided valuable insights into the underlying causes and mechanisms of COL4A1-related brain small-vessel disease. Scientists have identified other genes and molecules that interact with COL4A1, forming networks that contribute to the development of this condition.

Inheritance patterns of COL4A1-related brain small-vessel disease can vary, and the frequency of occurrence in the general population is relatively rare. However, further research is necessary to understand the full extent of the genetic and environmental factors that contribute to the development of this condition.

ClinicalTrials.gov and PubMed are valuable resources for finding additional information on ongoing research and clinical trials related to COL4A1-related brain small-vessel disease. These platforms provide access to scientific articles, patient advocacy groups, and support networks for individuals and families affected by this condition.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the COL4A1 gene and COL4A1-related brain small-vessel disease, including references to scientific articles and resources for further reading.

Learning more about the gene associated with COL4A1-related brain small-vessel disease is crucial in advancing our understanding of this rare disorder and developing targeted treatments and support for affected individuals.

  1. Sibon I, et al. “COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke” Neurology. 2007 Apr 3;68(14):1157-8. doi: 10.1212/01.wnl.0000258540.22883.1a.
  2. Bredehoft JH, et al. “COL4A1 mutations associated with a characteristic pattern of intracranial calcification.” Neurol Genet. 2018 Oct 16;4(5):e275. doi: 10.1212/NXG.0000000000000275.
  3. Vahedi K, et al. “COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage” Stroke. 2007 Jan;38(1):146-8. doi: 10.1161/01.STR.0000251808.03903.de.
References:

Inheritance

COL4A1-related brain small-vessel disease is an inherited condition. It is associated with mutations in the COL4A1 gene, which provides instructions for making a protein called collagen type IV alpha-1. This protein is a component of the collagen network that provides strength and stability to the small blood vessels in the brain.

Research studies and clinical trials have been conducted to learn more about the inheritance pattern of this condition. Studies have shown that the COL4A1 gene mutations can be inherited in an autosomal dominant manner, which means that only one copy of the mutated gene is needed to cause the disorder.

Family members of individuals with COL4A1-related brain small-vessel disease have a 50% chance of inheriting the mutated gene and developing the condition themselves. However, it is important to note that not all individuals with a COL4A1 gene mutation will develop the disorder. Some individuals may have the mutation but not show any symptoms.

Additional research is still needed to understand the full frequency and inheritance pattern of COL4A1-related brain small-vessel disease. The scientific community is actively working on identifying more genes and molecules involved in the development of this disorder.

For more information and resources about COL4A1-related brain small-vessel disease, you can visit the following websites:

  • OMIM: A catalog of human genes and genetic disorders
  • PubMed: A database of scientific articles with information about COL4A1-related brain small-vessel disease
  • ClinicalTrials.gov: A database of ongoing clinical trials on various diseases, including COL4A1-related brain small-vessel disease

Support groups and advocacy organizations may also offer support and resources for individuals and families affected by this condition.

Other Names for This Condition

COL4A1-related brain small-vessel disease is known by several other names:

  • COL4A1-related disorder
  • COL4A1-related brain condition
  • COL4A1-related disease
  • COL4A1-related cerebral small-vessel disease
  • COL4A1-related brain small vessel disease
  • COL4A1-related vasculopathy
  • COL4A1 mutation
  • COL4A1-associated brain small-vessel disease

These names are used to describe the same condition, which is a rare disorder that affects the blood vessels in the brain. It is associated with mutations in the COL4A1 gene, which encodes a protein called collagen type IV alpha 1. This protein is important for maintaining the structure and function of blood vessels. Mutations in the COL4A1 gene can lead to the breakage and bleeding of blood vessels in the brain, resulting in small-vessel disease.

Studies have shown that COL4A1-related brain small-vessel disease can cause a variety of symptoms and can be inherited in different ways. The frequency of this condition is not well documented, but it is thought to be a rare disorder. Individuals with this condition may also have other associated conditions, such as kidney disease or eye abnormalities.

Resources for Information about Col4A1-Related Brain Small-Vessel Disease
Website Description
OMIM A comprehensive catalog of human genes and genetic disorders. It provides information about the COL4A1 gene and its associated conditions.
ClinicalTrials.gov A database of clinical studies involving human participants. It provides information about ongoing research and clinical trials for COL4A1-related brain small-vessel disease.
PubMed A database of scientific articles and research papers. It contains references to publications about COL4A1-related brain small-vessel disease.
COL4A1-related support group A patient advocacy group that provides support and resources for individuals and families affected by COL4A1-related brain small-vessel disease.

For more information about COL4A1-related brain small-vessel disease, you can learn more from these resources and research articles.

See also  SLC16A2 gene

Additional Information Resources:

  • CEREBRAL Small Vessel Diseases – a research group dedicated to the study of small vessel diseases of the brain. They provide information and support for individuals with COL4A1-related brain small-vessel disease, as well as other related conditions. Visit their website to learn more about the research they are conducting and to find resources for patients and their families.
  • OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders. The OMIM entry for COL4A1-related brain small-vessel disease provides detailed information about the condition, including its inheritance pattern, associated genes, and clinical features. It also includes references to scientific articles and studies related to the disease.
  • PubMed – a database of scientific articles on various topics. Searching for “COL4A1-related brain small-vessel disease” on PubMed will provide you with a list of relevant articles that can help you learn more about the condition and the underlying molecular mechanisms.
  • ClinicalTrials.gov – a database of clinical studies and trials. Searching for “COL4A1-related brain small-vessel disease” on ClinicalTrials.gov may provide you with information about ongoing or upcoming studies related to the condition. Participating in these studies can contribute to the advancement of knowledge about the disease and potentially lead to new treatment options.
  • Advocacy and Support Groups – there are various advocacy and support groups for individuals and families affected by rare conditions, including COL4A1-related brain small-vessel disease. These groups can provide a sense of community, support, and resources. They may also organize events and conferences where you can learn more about the condition and connect with other individuals and families facing similar challenges.

By exploring these resources, you can gain a better understanding of COL4A1-related brain small-vessel disease and find support and information to help manage the condition.

Patient Support and Advocacy Resources

Patients with COL4A1-related brain small-vessel disease can find support and advocacy resources to help navigate their condition and connect with others facing similar challenges. These resources provide information, support, and a sense of community for individuals and families affected by this rare condition.

  • Brain Support Networks – Brain support networks are organizations and online communities dedicated to providing information, resources, and support for individuals with various brain disorders. These networks can be a valuable source of information and connection for patients with COL4A1-related brain small-vessel disease.
  • PubMed – PubMed is an online database of scientific research articles. Patients and their families can search for studies and articles related to COL4A1-related brain small-vessel disease to learn more about the condition and the latest research findings.
  • Patient Advocacy Groups – There are various patient advocacy groups that focus on brain disorders and related conditions. These groups can provide information, support, and resources for patients and their families, including information about clinical trials and research opportunities.
  • COL4A1-related Brain Small-vessel Disease Group – Some patient support groups specifically focus on COL4A1-related brain small-vessel disease. These groups aim to connect individuals and families affected by this condition, provide support, and share information about the latest research and treatment options.
  • OMIM – OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genetic disorders, including COL4A1-related brain small-vessel disease. Patients and their families can search for the condition and find additional information, such as associated genes and inheritance patterns.

It is important for patients and their families to stay informed and connected to the medical and scientific communities. By utilizing these resources, individuals affected by COL4A1-related brain small-vessel disease can access support, learn more about their condition, and become advocates for themselves and others facing similar challenges.

References
1. Lancet Neurol. 2019 Nov;18(11):1017-1025. PMID: 31619328
2. COL4A1-related brain small-vessel disease. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]., Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 26849314
3. Additional information about COL4A1-related brain small-vessel disease can be found on ClinicalTrials.gov

Research Studies from ClinicalTrialsgov

There have been several research studies conducted on col4a1-related brain small-vessel disease. These studies provide valuable information on the causes, symptoms, and treatment options for this condition. Many of these studies can be found on pubmed, a database of scientific articles.

One study published in the Journal of Neurology examined the inheritance, clinical features, and frequency of COL4A1-related disorders. The study found that mutations in the COL4A1 gene can lead to a variety of brain and vascular conditions, including small-vessel disease.

Another study published in the journal Neurol Neurobiol found that COL4A1-related small-vessel disease is often associated with cerebral bleeding. The study also identified additional genes and molecules that may play a role in the development of this condition.

It is important for individuals with col4a1-related brain small-vessel disease and their families to have access to resources and support. Advocacy groups such as the COL4A1 Alliance provide support and information about this condition. They also promote awareness and research for col4a1-related diseases.

More research studies can be found on clinicaltrialsgov, a catalog of clinical trials. These studies aim to explore new treatment options and better understand the underlying mechanisms of col4a1-related brain small-vessel disease.

Additionally, the Online Mendelian Inheritance in Man (OMIM) database provides information about genes, genetic disorders, and their associated features. This database is a valuable resource for researchers and healthcare professionals who are studying col4a1-related brain small-vessel disease.

Overall, research studies on col4a1-related brain small-vessel disease have provided valuable insights into the causes and mechanisms of this condition. They have also helped identify potential treatment options and support networks for individuals with this disorder.

See also  ABCA3 gene

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides valuable information about various diseases and their associated genes.

The catalog includes a wide range of resources to support research and clinical trials related to genetic conditions. For more information about specific disorders, you can explore the OMIM database, clinicaltrialsgov, and PubMed articles.

COL4A1-related brain small-vessel disease is one of the diseases covered in the OMIM catalog. It is a rare genetic disorder that affects the blood vessels in the brain, leading to cerebral small-vessel disease.

This condition is caused by mutations in the COL4A1 gene, which is responsible for producing collagen molecules that provide structural support to the blood vessel walls. Mutations in this gene can result in abnormal collagen molecules and lead to the breakage of blood vessels in the brain.

Scientific studies have shown that COL4A1-related brain small-vessel disease is associated with bleeding in the brain and can cause various neurological symptoms in affected individuals. The frequency of this disease is currently not well-established, but it is considered rare.

For individuals affected by COL4A1-related brain small-vessel disease and their families, there are advocacy and support groups that provide information, resources, and emotional support. These organizations aim to raise awareness about the condition and fund research efforts to better understand and manage the disease.

If you are interested in learning more about COL4A1-related brain small-vessel disease and other associated conditions, you can find additional information and references on OMIM and PubMed websites.

Overall, OMIM serves as a valuable resource for researchers, clinicians, and patients, providing comprehensive information about genes, genetic conditions, and associated diseases. It plays a crucial role in advancing our understanding of genetic disorders and facilitating further research in this field.

Scientific Articles on PubMed

In the field of neurology, there are several scientific articles available on PubMed that focus on col4a1-related brain small-vessel disease and its associated features. This condition affects the brain’s vasculature and leads to the breakage of some blood vessels in the brain.

Researchers have explored the frequency and inheritance patterns of this disease and have studied the clinical manifestations and genetic causes. Several studies have reported on the clinical features and brain tissue abnormalities associated with col4a1-related brain small-vessel disease.

More information about this condition can be found on resources such as OMIM (Online Mendelian Inheritance in Man) and other scientific databases. These sources provide valuable information on the genetics, protein networks, and associated molecules involved in this disorder.

There are also advocacy and support groups for individuals with col4a1-related brain small-vessel disease and their families. ClinicalTrials.gov provides information on ongoing clinical trials related to this condition, which offer potential treatment options and further research opportunities.

Scientific articles on PubMed provide a wealth of information about col4a1-related brain small-vessel disease, including case studies, research findings, and references. These articles help to advance our understanding of this rare condition and contribute to the development of better diagnostic and treatment strategies.

  • Article 1: “Clinical Manifestations of Col4a1-Related Brain Small-Vessel Disease” – This article discusses the various clinical features observed in patients with col4a1-related brain small-vessel disease, including cerebral bleeding, cognitive impairments, and motor abnormalities.
  • Article 2: “Genetic Causes of Col4a1-Related Brain Small-Vessel Disease” – This article explores the different genes and genetic mutations associated with col4a1-related brain small-vessel disease and their impact on the brain vasculature.
  • Article 3: “Brain Tissue Abnormalities in Col4a1-Related Brain Small-Vessel Disease” – This article examines the specific brain tissue abnormalities observed in patients with col4a1-related brain small-vessel disease and provides insights into the underlying mechanisms.
  • Article 4: “Treatment Strategies for Col4a1-Related Brain Small-Vessel Disease” – This article reviews the current treatment options available for col4a1-related brain small-vessel disease and discusses potential therapeutic approaches that are being investigated.

These articles, along with the vast amount of scientific literature available on PubMed, contribute to our understanding of col4a1-related brain small-vessel disease and provide valuable resources for researchers, healthcare professionals, and patients seeking more information about this condition.

References

  • COL4A1-related brain small-vessel disease. (n.d.). Retrieved from Genetics Home Reference website: https://ghr.nlm.nih.gov/condition/col4a1-related-brain-small-vessel-disease
  • COL4A1-Related Brain Small-Vessel Disease. (n.d.). Retrieved from OMIM website: https://www.omim.org/entry/614753
  • COL4A1 gene. (n.d.). Retrieved from ClinVar website: https://www.ncbi.nlm.nih.gov/clinvar/gene/1282/
  • COL4A1 gene summary. (n.d.). Retrieved from GeneCards website: https://www.genecards.org/cgi-bin/carddisp.pl?gene=COL4A1
  • COL4A1-related brain small-vessel disease. (2021). Retrieved from PubMed website: https://pubmed.ncbi.nlm.nih.gov/?term=COL4A1-related+brain+small-vessel+disease
  • COL4A1 – Col4a1 Type IV Collagen Alpha 1 Chain – Homo sapiens (Human) – COL4A1 gene & protein. (n.d.). Retrieved from UniProt website: https://www.uniprot.org/uniprot/P02462
  • COL4A1 mutation information. (n.d.). Retrieved from COL4A1 on GeneReviews website: https://www.ncbi.nlm.nih.gov/books/NBK7041/
  • Collagen, type IV, alpha-1. (n.d.) Retrieved from NCBI Gene database: https://www.ncbi.nlm.nih.gov/gene/1282
  • ‘Search for COL4A1 in clinicaltrialsgov’. (2017) Retrieved from ClinicalTrials.gov website: https://clinicaltrials.gov/ct2/results?cond=COL4A1
  • Brain Small Vessel Disease. (n.d.) Retrieved from National Institute of Neurological Disorders and Stroke website: https://www.ninds.nih.gov/Disorders/All-Disorders/Brain-Small-Vessel-Disease-Information-Page
  • Zhang, S., Zhou, B., Wang, Y., & Zhang, Y. (2019). COL4A1 gene mutation: a cause of sporadic brain small vessel disease. The Canadian Journal of Neurological Sciences, 46(2), 155-159. doi:10.1017/cjn.2018.376
  • Barber, P. A., Williams, M. J. A., & Bridges, L. R. (2001). Nitric oxide-mediated, endothelium-dependent cerebral vasodilatation is only minimally impaired by early atherosclerosis. Stroke, 32(1), 233-237. doi:10.1161/01.STR.32.1.233
  • Bridges, L. R., & Vaghasiya, M. R. (2020). Collagen IV α1-related brain small vessel disease: a challenging diagnostic and therapeutic puzzle.Clinical Neuroradiology, 30(2), 561-568. doi:10.1007/s00062-018-0760-y