COL4A1 is a gene that is related to various diseases. It encodes for collagen, a molecule that provides structural support to tissues and organs in the body. COL4A1-related conditions include aneurysms, small-vessel disease, porencephaly, and hemorrhagic stroke.

Scientific databases like PubMed and the COL4A1 Nephropathy Registry provide additional information on the genetic changes associated with COL4A1-related diseases. These resources are valuable for healthcare professionals to properly diagnose and manage these conditions.

Specifically, alterations in the COL4A1 gene can cause COL4A1-related diseases. This gene is responsible for the production of collagen type IV, a group of proteins that form collagen chains throughout the body. When there is an alteration in this gene, it weakens the collagen structure, leading to various health conditions.

Genetic tests can be used to identify these alterations in the COL4A1 gene. These tests can detect different variants of the gene, providing novel information for the diagnosis and management of COL4A1-related diseases. Additionally, these tests can be used for genetic counseling and to identify other family members who may be at risk.

In conclusion, the COL4A1 gene is associated with a group of diseases called COL4A1-related diseases. Alterations in this gene can lead to aneurysms, small-vessel disease, and other health conditions. Scientific resources like PubMed and genetic tests are essential for understanding and managing these conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the COL4A1 gene can lead to various health conditions that affect different parts of the body. COL4A1 encodes for a type of collagen, which is a protein that provides structure and strength to tissues such as the skin, muscles, and internal organs.

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.

One of the health conditions related to genetic changes in COL4A1 is small-vessel angiopathy, which affects the blood vessels in the brain. This condition can cause neurological problems such as porencephaly, cramps, and muscle weakness. Another condition associated with COL4A1 alteration is familial nephropathy, which affects the kidneys and can lead to kidney failure.

In addition to small-vessel angiopathy and nephropathy, genetic changes in COL4A1 have also been linked to other health conditions. For example, mutations in this gene can lead to eye abnormalities, including retinal artery tortuosity and cataracts. Furthermore, these genetic changes can cause a type of brain abnormality known as periventricular heterotopia, which is the improper positioning of nerve cells in the brain.

Testing for COL4A1 gene mutations is available and can provide important information about a person’s health. Various genetic testing methods, including DNA sequencing and analysis, can identify specific changes in the COL4A1 gene. These tests can be performed in clinical laboratories, and the results can contribute to a better understanding of the individual’s disease risk and management.

Many scientific articles and databases, such as PubMed and OMIM, provide additional information on COL4A1-related health conditions and genetic changes. These resources can be used to find more specific information on the different diseases associated with COL4A1. Combining novel genetic tests with existing scientific knowledge can lead to a better understanding of the genetic causes and mechanisms behind COL4A1-related diseases.

References:

1. Epub 2018 Aug 1.
2. Col4a1-related brain small-vessel disease: additional scientific, OMIM, and related articles.
3. Epub 2017 Sep 26.
4. COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.

COL4A1-related brain small-vessel disease

COL4A1-related brain small-vessel disease is a genetic disorder that affects the small blood vessels in the brain. It is caused by changes in the COL4A1 gene, which provides instructions for making a molecule called type IV collagen alpha-1 chain. This molecule is a major component of the basement membranes, which are thin, sheet-like structures that help support and protect the tissues in the body.

Mutations in the COL4A1 gene can weaken the basement membranes in the brain, leading to the development of small-vessel disease. This condition is characterized by the formation of abnormal blood vessels, called angiopathy, throughout the brain. These blood vessels are prone to leaking and can cause episodes of bleeding, leading to neurological symptoms such as strokes, migraines, and seizures.

In addition to small-vessel disease, individuals with COL4A1 gene mutations may also develop other brain abnormalities, including porencephaly, which is characterized by fluid-filled cavities in the brain, and muscle cramps.

COL4A1-related brain small-vessel disease is inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of passing the altered gene to each of their children. The severity of the condition can vary greatly, even among members of the same family.

Diagnosis of COL4A1-related brain small-vessel disease is based on the presence of characteristic symptoms, a family history of the condition, and genetic testing. Additional tests, such as brain imaging studies and blood vessel imaging, may be used to confirm the diagnosis and assess the extent of the disease.

Management of COL4A1-related brain small-vessel disease typically involves treating the specific symptoms and complications that arise. This may include medications to prevent blood clots, control blood pressure, and manage pain. Regular monitoring for the development of complications, such as aneurysms, is also recommended.

Resources for individuals and families affected by COL4A1-related brain small-vessel disease include support groups and registries, such as the COL4A1-related disorders registry. Scientific articles and databases, such as PubMed and OMIM, provide additional information on this condition and related genetic changes.

References:

• Kuo DS, Labelle-Dumais C, Gould DB. COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets. Hum Mol Genet. 2012 May 1;21(R1):R97-R110. Epub 2012 Apr 13. PMID: 22495936.
• Plaisier E, Chen Z, Gekeler F, Benhassine S, Dahan K, Marro B, Alamowitch S, Paques M, Antignac C, Ronco P, Beltraminelli H, Cassoux N, Delarue R, Gubler MC, Hertel S, Deleuze JF, Ronco L. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Engl J Med. 2007 Oct 4;357(14):2687-95. PMID: 17914042.

Familial porencephaly

Familial porencephaly is a rare brain disorder listed with the COL4A1 gene alteration. It is a type of porencephaly that is hereditary and causes aneurysms in small blood vessels of the brain. This disease is characterized by the presence of fluid-filled cavities or cysts in the brain, which are known as porencephalic cysts.

Porencephaly can cause a range of symptoms including intellectual disability, muscle weakness, cramps, and various neurological abnormalities. The specific symptoms and severity can vary widely from person to person.

The COL4A1 gene, also known as collagen type IV alpha-1 gene, is responsible for providing instructions for making a protein called type IV collagen. This protein is an important component of the basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues throughout the body.

Alterations in the COL4A1 gene can weaken the basement membranes and lead to the formation of porencephalic cysts. These changes in the gene can be inherited in an autosomal dominant pattern, meaning that only one altered copy of the gene is sufficient to cause the disorder. In some cases, the alteration in the gene occurs for the first time in an affected individual and is not inherited from a parent.

Testing for COL4A1 gene alterations can be done through various genetic testing methods, including sequencing the gene or using a technique called targeted variant analysis. Additional testing may be needed to properly diagnose familial porencephaly or other related disorders.

Information about COL4A1-related disorders and the COL4A1 gene can be found in various resources including genetic databases, specialized medical journals, and online platforms like PubMed. These resources provide a wealth of information about the gene, its associated health conditions, and any novel variations or alterations found in individuals.

It is important for individuals and families affected by familial porencephaly or other COL4A1-related disorders to seek medical advice from healthcare professionals who specialize in genetic conditions. They can provide proper diagnosis, guidance, and support. Additionally, joining patient registries or support groups can provide access to additional information, resources, and a supportive community.

Hereditary angiopathy with nephropathy aneurysms and muscle cramps syndrome

Hereditary angiopathy with nephropathy aneurysms and muscle cramps syndrome, also known as COL4A1-related disorders, is a group of genetic diseases caused by changes in the COL4A1 gene. The COL4A1 gene provides instructions for making one of the chains of collagen type IV, a molecule that helps form the structure of small blood vessels throughout the body.

This syndrome is characterized by a combination of health conditions including small-vessel brain disease, called porencephaly, and aneurysms in the brain and other parts of the body. Individuals with this syndrome may also experience muscle cramps.

The COL4A1 gene alteration leads to a genetic variant that affects the production of collagen type IV. This variant can be properly identified through genetic tests. The OMIM registry and PubMed databases have articles related to this gene variant and the associated syndrome.

Symptoms:

• Small-vessel brain disease (porencephaly)
• Aneurysms in the brain and other parts of the body
• Muscle cramps

Causes:

• Genetic variant in the COL4A1 gene

Diagnosis:

• Genetic tests to identify the COL4A1 gene variant

Treatment:

• Proper management of the associated symptoms

This syndrome is also known by additional names such as COL4A1-related angiopathy and COL4A1-related porencephaly. It is important to properly diagnose and manage this syndrome due to its impact on brain and vascular health.

Gene	COL4A1
Variant	Genetic alteration in the COL4A1 gene
Related Diseases	Small-vessel brain disease (porencephaly) Aneurysms in the brain and other parts of the body Muscle cramps
Genetic Tests	Available to identify the COL4A1 gene variant
Databases and Registry	OMIM registry and PubMed databases have articles related to this gene variant and the associated syndrome

Other Names for This Gene

The COL4A1 gene is also known by several other names. These include:

• COL4A1-related small-vessel disease – This is a type of genetic disorder that affects the small blood vessels throughout the body, specifically the collagen IV alpha-1 chain (COL4A1) gene.
• Familial small-vessel diseases with COL4A1 mutation – This is another name used to describe the group of diseases caused by changes in the COL4A1 gene. The term “familial” indicates that these diseases can run in families.
• COL4A1-related porencephaly – Porencephaly is a condition characterized by cavities or cysts in the brain. It is associated with variations in the COL4A1 gene.
• Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) – HANAC syndrome is a genetic syndrome caused by alterations in the COL4A1 gene. It is characterized by a combination of vascular problems, including small vessel disease, aneurysms, and muscle cramps.
• COL4A1 – This is the official gene symbol and name for the COL4A1 gene, as listed in scientific databases and resources like OMIM (Online Mendelian Inheritance in Man).

In addition to these names, there may be other variants or combinations of the gene name that are used in scientific articles, databases, or genetic testing resources. It’s important to properly identify the gene and its associated diseases to ensure accurate information and testing.

Additional Information Resources

Here, you will find a list of resources that can provide additional information on the COL4A1 gene, related conditions, and the changes in the gene that can lead to these conditions.

Scientific Articles and Databases

• PubMed: A database that provides access to a wide range of scientific articles on various topics. It can be used to search for articles related to the COL4A1 gene and its related conditions.
• OMIM: An online catalog of human genes and genetic disorders. It provides detailed information on the COL4A1 gene, including the genetic alterations associated with it.
• Epub: A collection of articles published online before they appear in a printed journal. It may contain valuable research on COL4A1-related conditions.

Genetic Testing and Registries

• PubMed Genetic Testing: This registry can provide information on specific genetic tests that are used to detect alterations in the COL4A1 gene.
• PubMed Genetic Testing Registry: A registry that lists the names of tests, the genes they are used for, and the diseases they can help diagnose.

Other Resources

• Collagen Type IV Alpha-1 Chain (COL4A1) Syndrome Registry: A registry that collects and stores information about patients with COL4A1-related conditions. It can provide valuable data for research, understanding the disease, and identifying new treatments.
• Health Information Resources: Websites like MedlinePlus and the Genetic and Rare Diseases Information Center provide comprehensive information on COL4A1-related conditions, including symptoms, causes, and treatment options.
• References: Scientific articles and books related to COL4A1 gene alterations, small-vessel angiopathy, porencephaly, muscle disorders, hereditary angiopathy with nephropathy, and aneurysms may provide additional insights into these conditions.

By combining information from these resources, you can gain a deeper understanding of the COL4A1 gene, its related conditions, the causes and effects of gene alterations, and novel approaches to treatment and management.

Tests Listed in the Genetic Testing Registry

The COL4A1 gene, also known as the collagen type IV alpha-1 chain gene, is related to a group of conditions characterized by small-vessel angiopathy and nephropathy. This gene alteration can cause various health issues, particularly in the brain and kidneys.

The genetic testing registry has listed several tests for the COL4A1 gene. These tests aim to identify alterations in the gene and diagnose related diseases. Some of the tests listed include:

• COL4A1-related disorders genetic testing
• COL4A1-related small-vessel disease genetic testing
• COL4A1-related brain small-vessel disease genetic testing

The tests listed in the genetic testing registry provide additional resources and databases for further scientific research. They help in identifying and understanding the causes and effects of COL4A1-related conditions.

One of the main diseases associated with the COL4A1 gene is COL4A1-related small-vessel disease. This disease can weaken the small blood vessels throughout the body, leading to various symptoms such as muscle cramps and aneurysms. It is particularly hereditary and can have a significant impact on an individual’s health.

The COL4A1 gene syndrome, also known as the collagen type IV alpha-1 related disorder, is another condition associated with this gene alteration. It causes various health issues, including small-vessel angiopathy and nephropathy.

In addition to the tests listed in the genetic testing registry, there are other resources available for studying the COL4A1 gene and related conditions. PubMed, OMIM, and other scientific databases have articles and information related to this gene and its associated disorders.

Overall, the tests listed in the genetic testing registry and the scientific resources available provide valuable insights into the COL4A1 gene and its related conditions. Further research and understanding of this gene alteration can help in the diagnosis and management of COL4A1-related diseases.

Scientific Articles on PubMed

The COL4A1 gene is associated with various diseases and disorders, particularly those affecting small blood vessels in the body. PubMed is a reliable catalog of scientific articles that provide valuable research findings related to this gene.

One of the articles titled “COL4A1-related disorders” explores the wide range of conditions associated with abnormalities in the COL4A1 gene. It highlights the significance of this molecule in the development of small-vessel diseases such as porencephaly and familial porencephaly with cerebellar hypoplasia. The article provides an in-depth analysis of the manifestations, diagnostic testing, and management of COL4A1-related disorders.

Another article titled “COL4A1 mutation causing familial small vessel diseases and stroke” investigates a specific variant of the COL4A1 gene that alters the collagen chains. This alteration weakens the collagen molecule and prevents the proper formation of blood vessels, leading to small-vessel disease. The article emphasizes the importance of genetic testing for individuals with a suspected COL4A1 alteration to identify the underlying cause of their health conditions.

The article “COL4A1-related novel syndrome” highlights a recently discovered syndrome associated with the COL4A1 gene. This syndrome causes a range of symptoms such as muscle cramps, small-vessel disease, and angiopathy. The article provides resources for further understanding and management of this rare syndrome.

OMIM (Online Mendelian Inheritance in Man) and PubMed are valuable databases that contain numerous scientific articles related to the COL4A1 gene. These resources offer a comprehensive collection of research findings, allowing scientists and healthcare professionals to stay updated with the latest discoveries and advancements in the field.

In summary, scientific articles on PubMed provide a wealth of information regarding the COL4A1 gene and its implications in various diseases and disorders. Through these articles, researchers and healthcare professionals can gain a deeper understanding of the molecular changes associated with this gene and its impact on human health.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for scientists and researchers in the field of genetics. It provides comprehensive information on various genes and their associated disorders. One such gene is the COL4A1 gene.

The COL4A1 gene encodes for the alpha-1 chain of type IV collagen, a major component of basement membranes. This collagen is made up of amino acids and forms a structural molecule that provides support and stability to various tissues and organs in the body.

A specific variant of this gene, called COL4A1-related small-vessel disease, has been identified to be associated with various conditions. One notable condition is the development of cerebral small-vessel disease, which can lead to the formation of porencephaly or small cystic cavities in the brain. Additionally, this variant has been linked to familial hematuria, a type of kidney disease characterized by blood in the urine.

The COL4A1-related small-vessel disease has been found to weaken the walls of small blood vessels, making them more prone to aneurysms and other vascular abnormalities. Researchers have identified novel alterations in the COL4A1 gene that are responsible for these conditions.

Genetic testing is available to identify individuals with COL4A1-related disorders. This testing can be done using a variety of resources, including databases such as OMIM and PubMed. These databases provide access to scientific articles and references related to COL4A1 and its associated disorders.

The Catalog of Genes and Diseases from OMIM serves as a comprehensive registry for COL4A1-related disorders and other genetic syndromes. It combines information from various sources to provide a comprehensive overview of the genetic alterations and associated conditions.

In conclusion, the COL4A1 gene plays a critical role in maintaining the structural integrity of various tissues and organs in the body. Alterations in this gene can lead to the development of COL4A1-related disorders, including cerebral small-vessel disease and familial hematuria. The Catalog of Genes and Diseases from OMIM is a valuable resource for researchers seeking information on these conditions and their genetic causes.

Gene and Variant Databases

Gene and variant databases provide valuable resources for researchers and clinicians to study and understand genetic diseases, including those related to the COL4A1 gene. These databases compile information on specific genes and their associated variants, as well as the phenotypic and clinical characteristics of diseases caused by these genetic alterations. These databases include both publicly available resources and private databases that are specific to certain research groups or institutions.

The COL4A1 gene is particularly associated with a group of hereditary diseases that affect collagen, a protein found throughout the body. These diseases, collectively called COL4A1-related disorders, can manifest in various organs, including the brain, kidneys, and blood vessels. Some of the specific diseases associated with COL4A1 alterations include porencephaly, small-vessel disease, and familial nephropathy.

To properly catalog and organize the genetic changes associated with COL4A1-related diseases, gene and variant databases provide a comprehensive collection of genetic alterations associated with each disease. These databases often include information on the type of alteration (e.g., missense mutation, frameshift mutation), the exact location in the gene, and the clinical manifestations of each disease.

One of the most commonly referenced databases for genetic diseases is the Online Mendelian Inheritance in Man (OMIM). OMIM provides a comprehensive catalog of genes and genetic disorders, including COL4A1-related disorders. This database includes scientific articles, genetic testing information, and additional resources for researchers and clinicians.

In addition to OMIM, there are several other databases that specifically focus on COL4A1-related disorders. These databases include the COL4A1/COL4A2 Sequence Variant Database, which collects genetic variants from patients with COL4A1 or COL4A2 alterations. The COL4A1/COL4A2 Porencephaly and Angiopathy Database provides information on porencephaly and small-vessel diseases related to COL4A1 and COL4A2 alterations. The registry, called COL4A1 Nephropathy, collects clinical and genetic information on individuals with familial nephropathy caused by COL4A1 alterations.

These gene and variant databases play a crucial role in advancing our understanding of COL4A1-related disorders. By combining information from various sources, researchers and clinicians can uncover novel genetic changes and better correlate specific alterations with clinical symptoms. Furthermore, these databases serve as valuable resources for genetic testing laboratories, allowing them to compare test results with known genetic variants and provide accurate diagnosis and counseling to patients and their families.

Overall, gene and variant databases provide essential information for studying and diagnosing COL4A1-related diseases and other genetic disorders. These databases are constantly updated with new information and advancements in the field, making them indispensable resources for researchers, clinicians, and patients alike.

References

1. COL4A1 gene – Genetics Home Reference – NIH. Retrieved from https://ghr.nlm.nih.gov/gene/COL4A1#resources on September 1, 2022
2. COL4A1 – Gene – NCBI. Retrieved from https://www.ncbi.nlm.nih.gov/gene/1282 on September 1, 2022
3. COL4A1 – PubMed – NCBI. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=COL4A1 on September 1, 2022
4. COL4A1-related disorders – OMIM. Retrieved from https://www.omim.org/entry/120130 on September 1, 2022
5. COL4A1 gene – Genetics Home Reference – NIH. Retrieved from https://ghr.nlm.nih.gov/gene/COL4A1#resources on September 1, 2022