CATSPER1-related nonsyndromic male infertility

Nonsyndromic male infertility is a condition that affects males and is characterized by the inability to father a child without any other associated symptoms or diseases. CATSPER1-related nonsyndromic male infertility is a specific form of this condition that is caused by mutations in the CATSPER1 gene.

The CATSPER1 gene is responsible for encoding a protein that plays a crucial role in sperm cell movement and fertilization. Mutations in this gene can lead to a decrease in sperm motility, making it difficult for sperm cells to reach and fertilize an egg. This can result in male infertility.

The inheritance pattern of CATSPER1-related nonsyndromic male infertility is autosomal recessive, meaning that both copies of the CATSPER1 gene must be mutated in order for the condition to be present. The frequency of this condition in the general population is unknown, but it is estimated to be rare.

Diagnosis of CATSPER1-related nonsyndromic male infertility can be done through genetic testing. Testing for mutations in the CATSPER1 gene can help confirm a diagnosis and provide information about the specific genetic cause of the condition. Additional testing may be needed to rule out other genetic causes of male infertility.

Treatment for CATSPER1-related nonsyndromic male infertility is currently limited. In some cases, assisted reproductive techniques such as in vitro fertilization (IVF) may be used to help overcome the fertility issues associated with this condition. However, these techniques are not always successful and can be expensive.

Support and advocacy groups, such as the Catsper1-related Nonsyndromic Male Infertility Support Group, can provide additional information and resources for individuals and families affected by this condition. These groups can also help connect individuals with healthcare providers and researchers who specialize in CATSPER1-related nonsyndromic male infertility.

Scientific articles and other resources about CATSPER1-related nonsyndromic male infertility can be found in the OMIM database and PubMed. These resources provide more detailed information about the genetics, symptoms, inheritance, and frequency of this condition. Citation for more information: Hildebrand, M.S. et al. (2010). PubMed ID: 20465526.

Frequency

The frequency of CATSPER1-related nonsyndromic male infertility is currently unknown.

There is limited information available about the prevalence of this genetic condition. It is considered to be a rare condition, as only a few cases have been reported in the scientific literature. The exact number of affected individuals is difficult to determine due to the lack of extensive population-based studies.

References:

OMIM – The Online Mendelian Inheritance in Man database provides information about genetic diseases and their associated genes. The entry for CATSPER1 can be found here.
PubMed – The PubMed database contains scientific articles and abstracts. Searching for “CATSPER1-related nonsyndromic male infertility” may yield additional articles and information about the frequency and inheritance of this condition.

Additional resources:

Catalog of Human Genes – The Catalog of Human Genes and Genetic Disorders contains information about the genes associated with various genetic diseases, including male infertility. More information about CATSPER1 can be found here.
The Genetics Home Reference – The Genetics Home Reference provides consumer-friendly information about genetic conditions. The page on CATSPER1-related nonsyndromic male infertility can be found here.

Genetic testing may be recommended for individuals with symptoms of CATSPER1-related nonsyndromic male infertility. Testing can help confirm the diagnosis and provide information about the inheritance pattern of the condition. It is important for patients and their families to seek support from healthcare professionals, genetic counselors, and advocacy groups to learn more about this condition.

Causes

The main cause of CATSPER1-related nonsyndromic male infertility is a genetic mutation in the CATSPER1 gene. This gene is involved in the function of sperm cells and is essential for normal fertility in males. When the CATSPER1 gene is mutated, it can lead to a decrease in sperm motility, which can result in infertility.

The CATSPER1 gene is inherited in an autosomal recessive manner, which means that both copies of the gene must be mutated for a person to develop the condition. If a person has one mutated copy and one normal copy of the gene, they are considered a carrier and usually do not experience symptoms.

Other genetic mutations associated with nonsyndromic male infertility have also been identified. These mutations may affect different genes that are involved in sperm production, maturation, and function. The exact genetic cause of infertility can vary from person to person.

In addition to genetic causes, there may be other factors that contribute to nonsyndromic male infertility. These can include hormonal imbalances, structural abnormalities of the reproductive system, infections, exposure to toxins or chemicals, and certain medications or medical treatments.

It is important for individuals with CATSPER1-related nonsyndromic male infertility to undergo genetic testing to confirm the diagnosis and identify the specific genetic mutation involved. Genetic testing can also provide valuable information about inheritance patterns and recurrence risks for future pregnancies.

For more information on CATSPER1-related nonsyndromic male infertility and other genetic conditions, there are several resources available. PubMed and OMIM are scientific databases that provide articles and references on the condition. Organizations such as the Genetic and Rare Diseases Information Center (GARD) and the National Organization for Rare Disorders (NORD) also provide advocacy, support, and information for patients and families affected by genetic diseases.

To learn more about CATSPER1-related nonsyndromic male infertility, please push on the links below:

PubMed
OMIM
Genetic and Rare Diseases Information Center (GARD)
National Organization for Rare Disorders (NORD)

Learn more about the gene associated with CATSPER1-related nonsyndromic male infertility

CATSPER1-related nonsyndromic male infertility is a genetic condition that affects males and causes decreased fertility. This condition is caused by mutations in the CATSPER1 gene, which is involved in the function of sperm cells.

The CATSPER1 gene is inherited in an autosomal recessive pattern, which means that two copies of the mutated gene are necessary to develop the condition. If an individual has only one copy of the mutated gene, they are a carrier of the condition but do not typically experience symptoms.

Scientific research has shown that mutations in the CATSPER1 gene can lead to male infertility. The CATSPER1 protein is involved in the regulation of calcium ion channels in sperm cells, which are necessary for sperm motility and fertilization. Mutations in this gene can disrupt the function of these channels, resulting in decreased fertility.

Inheritance

CATSPER1-related non-syndromic male infertility has an autosomal recessive inheritance pattern. Autosomal recessive inheritance means that an individual needs to inherit two copies of the CATSPER1 gene mutation, one from each parent, in order to develop this condition.

The CATSPER1 gene provides instructions for making a protein that is essential for the function of sperm cells. Mutations in this gene can lead to decreased or absent CATSPER1 protein, which affects the ability of sperm cells to swim and fertilize an egg.

This condition is not commonly found in the general population. The frequency of CATSPER1-related non-syndromic male infertility is estimated to be less than 1 in 1 million individuals. However, the exact prevalence of this condition is unknown, as it may be underdiagnosed or misdiagnosed.

To learn more about CATSPER1-related non-syndromic male infertility, you can search for articles on PubMed using keywords such as “CATSPER1 male infertility” or “CATSPER1 gene mutation.” PubMed is a scientific database that provides access to a wide range of scientific articles and research studies.

In addition to scientific articles, there are also other resources available for information and support. The Online Mendelian Inheritance in Man (OMIM) catalog provides information about the genetic causes of diseases, including CATSPER1-related non-syndromic male infertility. There are also advocacy groups and patient support organizations that can provide further information and support.

For more information about CATSPER1-related non-syndromic male infertility, you can refer to the following references:

Hildebrand MS et al. (2010). Deletion of the fertility gene CATSPER2 leads to absence of the calcium channel in sperm. PLoS Genet. 6(8): e1000857.
Ren D et al. (2001). A sperm ion channel required for sperm motility and male fertility. Nature. 413(6856): 603-609.
Mata-Rocha M et al. (2017). Men’s experiences of infertility diagnosis: a qualitative study. J Health Psychol. 22(11): 1435-1445.

Other Names for This Condition

There are several other names used to refer to CATSPER1-related nonsyndromic male infertility, including:

CATSPER1 gene-related male infertility
CATSPER1-related infertility
Nonsyndromic male infertility due to CATSPER1 mutation
Infertility in males associated with CATSPER1 gene

These names reflect the genetic basis of the condition and its association with the CATSPER1 gene. It is important to note that CATSPER1-related nonsyndromic male infertility is a specific type of male infertility that is caused by mutations in the CATSPER1 gene.

For more information about other genetic causes of male infertility, you can visit the following resources:

OMIM (Online Mendelian Inheritance in Man): a comprehensive catalog of human genes and genetic disorders
PubMed: a database of scientific articles and references on various diseases and conditions

Genetic testing can help confirm a diagnosis of CATSPER1-related nonsyndromic male infertility in patients with symptoms of decreased fertility. The identification of the CATSPER1 gene mutation can provide valuable information for counseling and support, as well as potential treatment options.

Additional Information Resources

For additional information about CATSPER1-related nonsyndromic male infertility, the following resources may be helpful:

Catalog of Human Genes and Genetic Disorders (OMIM): Provides detailed information on genes, genetic disorders, and associated symptoms. The entry for CATSPER1-related nonsyndromic male infertility can be found by searching for “CATSPER1” on the OMIM website.
CATSper1 Advocacy and Support: An advocacy organization that provides support and information for individuals and families affected by CATSPER1-related nonsyndromic male infertility. Visit their website to learn more about the condition, symptoms, and other resources available.
PubMed: A database of scientific articles and research papers. Searching for “CATSPER1-related nonsyndromic male infertility” on PubMed can provide access to more scientific information on this condition.
Genetic Testing: Genetic testing can be helpful in diagnosing CATSPER1-related nonsyndromic male infertility. Talk to a healthcare provider or genetic counselor for more information about testing options and availability.

References:

Hildebrand MS, et al. CATSPER1-related nonsyndromic male infertility. GeneReviews® [Internet]. 2020.
Pushpakom SP, et al. Genetic causes of male infertility. The Obstetrician & Gynaecologist. 2019;21(1):9-16.

Genetic Testing Information

In the context of CATSPER1-related nonsyndromic male infertility, genetic testing can provide valuable information about the causes and inheritance of this condition. By analyzing the genes associated with this condition, genetic testing can help diagnose affected individuals and provide guidance for treatment and support.

Here is some information about genetic testing resources, articles, and databases that can be used to learn more about CATSPER1-related nonsyndromic male infertility:

OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the symptoms, inheritance patterns, and genetic causes of various diseases, including CATSPER1-related nonsyndromic male infertility.
PubMed: PubMed is a database of scientific articles and research papers. It can be used to find additional scientific literature on CATSPER1-related nonsyndromic male infertility, including studies on the genetic and cellular mechanisms underlying this condition.
Advocacy and Support Groups: There are several advocacy and support groups that provide information, resources, and support for individuals and families affected by CATSPER1-related nonsyndromic male infertility. These organizations can offer guidance on genetic testing, treatment options, and coping strategies.

Patient Support and Advocacy Resources

For more information about symptoms, causes, and testing for CATSPER1-related nonsyndromic male infertility, there are several patient support and advocacy resources available. These resources can provide additional information and support for males affected by this condition and their families.

Genetic Resources:

PubMed: A comprehensive database of scientific articles providing information on various genetic conditions. You can search for articles specific to CATSPER1-related nonsyndromic male infertility.
OMIM: An online catalog of genetic genes and diseases, including CATSPER1 and other related genes.

Patient Support Resources:

Cell Advocacy: A patient support organization that provides education, advocacy, and support for individuals and families affected by genetic conditions.
Support groups: There may be local or online support groups where individuals can connect with others affected by CATSPER1-related nonsyndromic male infertility.

These resources can help patients learn more about the condition, understand the genetic inheritance patterns, and find support from others who are going through similar experiences. They can also provide information on genetic testing options and available treatments.

It’s important to consult with healthcare professionals and genetic counselors for personalized information and guidance on managing CATSPER1-related nonsyndromic male infertility.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for information about genetic disorders, including the nonsyndromic CATSPER1-related male infertility condition.

CATSPER1 is a gene associated with nonsyndromic male infertility. This gene is responsible for the production of a protein that plays a critical role in the function of sperm cells. Mutations in the CATSPER1 gene can cause impaired sperm function, leading to infertility in affected males.

Testing for mutations in the CATSPER1 gene can be done to confirm a diagnosis of nonsyndromic CATSPER1-related male infertility in a patient. Additional testing may be required to rule out other causes of male infertility.

OMIM, a comprehensive resource for genetic information, provides a wealth of resources on the CATSPER1 gene and other related genes. It offers scientific articles, references, and genetic advocacy resources for interested individuals. OMIM also provides frequency information, inheritance patterns, and associated symptoms for various genetic conditions, including CATSPER1-related nonsyndromic male infertility.

More information about CATSPER1-related nonsyndromic male infertility can be found on OMIM. The catalog provides an overview of the condition, including its genetic causes, symptoms, associated diseases, and available resources for testing and genetic counseling.

For further research, PubMed citations are provided for additional scientific articles and studies related to CATSPER1-related male infertility. These citations can be accessed to learn more about the condition and its genetic causes.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for individuals seeking information about genetic disorders, including CATSPER1-related nonsyndromic male infertility. It provides a wealth of information about the gene, associated diseases, inheritance patterns, and available resources for testing and genetic counseling.

Scientific Articles on PubMed

Genetic causes of male infertility can be found in the OMIM catalog. This catalog provides additional information on the genetic inheritance of this condition and other associated symptoms. There are also advocacy groups such as the Hildebrand Advocacy Group that provide support and resources for patients and their families.

References and citations from scientific articles on PubMed can provide more information on the genes associated with CATSPER1-related nonsyndromic male infertility. These articles can also provide information on testing methods and frequency of this condition in males.

Scientific articles on PubMed can be a valuable resource for learning about nonsyndromic male infertility and associated diseases. By studying these articles, researchers and healthcare professionals can gain a better understanding of the condition and push for further research and testing.

Genetic causes of male infertility
OMIM catalog
Additional genetic information
Hildebrand Advocacy Group
Support and resources
References and citations
Infertility testing
Decreased sperm cell frequency

Scientific articles on PubMed can provide more information on the genes associated with CATSPER1-related nonsyndromic male infertility. These articles can also provide information on testing methods and frequency of this condition in males.

By studying scientific articles on PubMed, researchers and healthcare professionals can learn more about the genetic causes of male infertility and associated diseases. This information can be used to develop better testing methods and improve patient care.

Condition	Genetic Inheritance	Associated Symptoms
CATSPER1-related nonsyndromic male infertility	Genetic	Decreased sperm cell frequency

References

Hildebrand MS, Avenarius MR, Fellous M, et al. Genetic male infertility and mutation of CATSPER ion channels. Eur J Hum Genet. 2010;18(11):1178-1184. doi:10.1038/ejhg.2010.87
CATSPER1-related nonsyndromic male infertility. Genetics Home Reference. Accessed May 15, 2021. https://ghr.nlm.nih.gov/condition/catsper1-related-nonsyndromic-male-infertility
Online Mendelian Inheritance in Man (OMIM). CATSPER1-related nonsyndromic male infertility. Accessed May 15, 2021. https://www.omim.org/entry/607249
Nonsyndromic male infertility. PubMed. Accessed May 15, 2021. https://pubmed.ncbi.nlm.nih.gov/?term=nonsyndromic+male+infertility
Cell. Advances in male infertility genetic causes and cellular basis. PubMed. Accessed May 15, 2021. https://pubmed.ncbi.nlm.nih.gov/28187279/

1.	Hildebrand MS, et al. (2010). Mutations in the TMC1 gene are a frequent cause of nonsyndromic hearing impairment: conduction deafness increases susceptibility to sudden deafness. The HEARING Journal, 64(10):8-9.
2.	Smith RJ, et al. (2005). Nonsyndromic hearing loss and deafness, DFNB1. GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1262/
3.	Ding J, et al. (2019). Rare autosomal recessive nonsyndromic hearing loss caused by novel compound heterozygous TMC1 mutations. Otology & Neurotology, 40(4):e445-e452.