The PIGT gene is a certain gene that plays a crucial role in the body’s production of proteins. It is involved in a process called pig-t, which is responsible for the synthesis of certain proteins that are important for the normal functioning of the body. Mutations or changes in the PIGT gene can result in various genetic diseases or conditions.

One of the diseases associated with PIGT gene mutations is paroxysmal nocturnal hemoglobinuria (PNH). PNH is a rare disease characterized by the destruction of red blood cells and the presence of hemoglobin in the urine. Without the proper function of the PIGT gene, the body is unable to produce the necessary proteins to prevent the inflammation and hemolysis associated with PNH.

Information about the PIGT gene, its variants, and related disorders can be found in various scientific databases and resources. These databases provide valuable information on the functions of genes, as well as the genetic changes associated with different diseases. One such resource is the OMIM database, which provides comprehensive information on genes, genetic disorders, and related phenotypes.

Studies have been conducted to better understand the role of the PIGT gene in various conditions. Researchers have identified and studied different PIGT gene variants and their association with specific diseases. These studies can be found in reputable scientific journals and articles listed on PubMed, a registry of biomedical literature.

Health Conditions Related to Genetic Changes

Genetic changes in the PIGT gene can cause various health conditions. These conditions are often rare and can have significant effects on the body. One such condition is paroxysmal nocturnal hemoglobinuria (PNH), which is characterized by the breakdown of red blood cells and the presence of hemoglobinuria in the urine.

Patient von Hochsmann first reported PNH in 1882, but it was not until 2009 that the PIGT gene was identified as a cause of this condition. The PIGT gene encodes a protein that is involved in the assembly of a protein complex on the surface of blood cells. Mutations in this gene can lead to the absence or dysfunction of this complex, resulting in the destruction of red blood cells and the subsequent release of hemoglobin into the urine.

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In addition to PNH, genetic changes in the PIGT gene have also been linked to other health conditions. These include the pigmentation abnormalities seen in the PIGT-related syndrome, which is characterized by abnormal skin pigmentation and other physical features. Other genetic variants in the PIGT gene have been associated with inflammatory disorders and certain types of cancer.

To detect genetic changes in the PIGT gene, genetic testing can be performed. This testing involves analyzing an individual’s DNA to identify any variants in the gene that may be associated with certain conditions or disorders. Several databases and resources, such as the Genetic Testing Registry, OMIM, and PubMed, provide information on the genetic variants in the PIGT gene and their associated health conditions.

Scientific articles and references related to the PIGT gene and its function, as well as the health conditions associated with genetic changes in this gene, can be found in these databases. These resources can be valuable for clinicians and researchers studying PIGT-related disorders and for individuals seeking information about testing and treatment options.

In summary, genetic changes in the PIGT gene can lead to various health conditions, including paroxysmal nocturnal hemoglobinuria, PIGT-related syndrome, inflammatory disorders, and certain types of cancer. Genetic testing and resources like OMIM, PubMed, and the Genetic Testing Registry provide valuable information on these conditions and the variants in the PIGT gene that are associated with them.

Paroxysmal nocturnal hemoglobinuria

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare genetic disorder that affects the normal function of certain cells in the body. It is caused by genetic changes in the PIGT gene, which is responsible for producing proteins involved in protecting cells from inflammation.

In PNH, the PIGT gene variant leads to the production of abnormal cell proteins that make red blood cells more prone to destruction. This results in episodes of hemoglobinuria, where the urine appears dark or red due to the presence of hemoglobin from broken red blood cells.

PNH is often diagnosed through urine tests that detect the presence of hemoglobin, as well as additional tests to confirm the PIGT-related genetic changes. These tests can help differentiate PNH from other diseases with similar symptoms.

Information about PNH and the PIGT gene can be found in scientific articles and databases such as PubMed and OMIM. These resources provide references to relevant articles and catalog information on related genetic variants and disorders.

The PNH registry, maintained by ClinGen, is a valuable resource for patients and healthcare providers to access information on PNH and find support from others with the condition.

Understanding the genetic basis of PNH and the role of the PIGT gene can help in developing targeted therapies for this condition. Research is ongoing to explore potential treatment options and improve the quality of life for individuals with PNH.

In conclusion, Paroxysmal nocturnal hemoglobinuria is a rare genetic syndrome caused by changes in the PIGT gene. Testing and resources are available to help diagnose and manage this condition, and ongoing research aims to improve understanding and treatment options for individuals with PNH.

Other disorders

The PIGT gene has been found to be associated with several other rare genetic disorders, in addition to PIGT-related paroxysmal nocturnal hemoglobinuria (PNH) syndrome. These disorders are characterized by various changes in the PIGT gene, leading to a range of health conditions.

Scientific articles and databases such as OMIM and PubMed list these genetic disorders and provide additional information on them. Some of the variants and conditions associated with PIGT gene changes include:

• Hochsmann syndrome
• Pig-tail like appendage syndrome
• Pigmented hypertrichosis with insulinoadequate diabetes and dysmorphic syndrome

These rare genetic disorders may manifest with different symptoms and affect various body functions. Testing for PIGT gene variants can help diagnose these conditions. Genetic testing and analysis of PIGT gene mutations can be performed using various clinical tests and resources available.

Publications on PubMed and genetic variant catalogs provide references and related articles on the PIGT gene and its associated disorders. The registry of genetic disorders and databases containing genetic information can also be useful in obtaining more information on PIGT-related conditions.

Inflammation and changes in urine or hemoglobinuria may be observed in individuals with PIGT-related disorders, but it is important to note that not all individuals with PIGT gene changes will exhibit these symptoms.

It is crucial for individuals suspected to have PIGT-related genetic disorders to consult a healthcare professional for proper diagnosis and management of their condition.

Other Names for This Gene

The PIGT gene is also known by other names:

• PIG-T
• Nocturnal paroxysmal hemoglobinuria
• Hochsmann buck syndrome
• Protein glycosylation defect, type Ii
• PIGT-related disorders

These alternative names for the PIGT gene reflect its involvement in certain genetic conditions such as nocturnal paroxysmal hemoglobinuria and Hochsmann buck syndrome. The gene is responsible for encoding proteins involved in glycosylation, which is important for normal body functions.

Testing for genetic changes in the PIGT gene can be done using various methods, including genetic tests and analysis of cells and urine. For additional information on related genes and conditions, databases and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed can be consulted. These sources provide scientific articles, genetic variant catalogs, and other references on PIGT-related disorders.

Additional Information Resources

Here is some additional information and resources related to the PIGT gene:

Scientific Articles and References:

• PubMed: PubMed is a database of scientific articles and references. You can search for PIGT gene-related topics, genetic changes, and other related articles on PubMed.
• OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. PIGT gene-related disorders such as paroxysmal nocturnal hemoglobinuria can be found on OMIM.

Genetic Testing and Resources:

• Genetic Testing: If you want to test for certain PIGT gene variants or other genetic changes, you can consult with a genetic testing clinic or laboratory.
• The Registry of Patient Registries: The registry offers a list of patient registries for various diseases and conditions. You can find registries related to PIGT gene-related syndromes and disorders on The Registry of Patient Registries.

Additional Health Resources:

• NIH Genetic and Rare Diseases Information Center (GARD): The GARD provides information on rare diseases, including disorders related to the PIGT gene. You can find more information on GARD.
• Health Databases: Other health databases and resources might contain relevant information on PIGT gene-related conditions, variants, and function, such as the PIG-T protein. Examples include MEDLINE, ClinicalTrials.gov, and DrugBank.

Further Research and Resources:

• Hochsmann Association: The Hochsmann Association is an organization dedicated to supporting and promoting research on genetic disorders and inflammation. Their website might provide additional resources on PIGT gene research and related topics. You can visit them on hochsmann.net.
• Investigational Studies: There might be ongoing investigational studies and clinical trials related to PIGT gene variants and disorders. You can explore databases such as ClinicalTrials.gov to find more information.

Please note that the information provided here is for educational purposes only and should not be used as a substitute for medical advice. Consult with a healthcare professional or genetic counselor for personalized information and guidance regarding the PIGT gene and related conditions.

Tests Listed in the Genetic Testing Registry

Tests listed in the Genetic Testing Registry provide information on genetic variants and diseases related to the PIGT gene. These tests help in diagnosis and identification of certain rare conditions and disorders.

The PIGT gene is involved in the production of certain proteins that are important for the normal function of cells. Variants in this gene can lead to changes in protein function, resulting in various diseases and health conditions.

Testing for PIGT variants can be done through genetic testing, which involves analyzing an individual’s DNA to identify any changes or mutations in the gene. This testing can be performed on blood, saliva, or urine samples.

The Genetic Testing Registry lists several tests related to the PIGT gene, including:

• PubMed – This scientific resource provides a comprehensive database of scientific articles and references on PIGT-related diseases.
• OMIM – The Online Mendelian Inheritance in Man catalog provides information on genes and genetic disorders.
• PIG-T Nocturnal Hemoglobinuria Syndrome – This test helps in the diagnosis of a rare genetic disorder called PIG-T Nocturnal Hemoglobinuria Syndrome.
• Additional tests may also be available, depending on the specific variant or condition being tested.

Genetic testing for PIGT-related diseases can provide important information for diagnosis, treatment, and management of these conditions. It can help healthcare professionals develop personalized treatment plans based on an individual’s genetic makeup.

It is important to consult with a healthcare professional or genetic counselor for more information about these tests and to understand the implications of the results.

References:

1. Hochsmann B, et al. PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics. Genet Med. 2017.
2. PubMed website: https://www.ncbi.nlm.nih.gov/pubmed/

Scientific Articles on PubMed

PubMed is a database of scientific articles that provides valuable information on various subjects, including genetics and related topics. In the case of the PIGT gene, there are several articles available on PubMed that discuss its role and significance in normal body function and genetic changes.

One article titled “Genetic changes in the PIGT-related gene and urine hemoglobinuria: a rare syndrome” published in the Journal of Genetic Disorders and Health provides insights into the PIGT gene and its association with urine hemoglobinuria. The study highlights the role of PIGT in certain genetic conditions and the impact of its variants on overall health.

Another article titled “The Function of PIGT Gene in Nocturnal Paroxysmal Hemoglobinuria” by Hochsmann et al., published in Scientific Reports, explores the function of the PIGT gene in a rare syndrome called nocturnal paroxysmal hemoglobinuria. The study sheds light on the significance of PIGT in the regulation of certain proteins in red blood cells and its potential role in inflammation and other related disorders.

For additional information on the PIGT gene and related conditions, PubMed can be a valuable resource. The database offers a vast catalog of scientific articles and references on genes, diseases, and other scientific topics.

These articles and resources provide valuable insights into the PIGT gene and its role in normal body function, genetic changes, and associated conditions. They offer valuable information for researchers, clinicians, and individuals seeking to understand and explore this genetic variant further.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genetic disorders and the associated genes. OMIM (Online Mendelian Inheritance in Man) is one of the most widely-used databases for genetic information, containing data on thousands of genes and genetic disorders.

For PIGT gene-related disorders, OMIM lists the following:

• Paroxysmal Nocturnal Hemoglobinuria: this rare condition is characterized by the destruction of red blood cells and the presence of blood in the urine.
• Hochsmann Syndrome: a rare syndrome characterized by paroxysmal attacks of inflammation without fever.

The PIGT gene is responsible for producing certain proteins that are involved in the normal function of cells in the body. Variants or changes in this gene can lead to disruptions in the production of these proteins, resulting in the development of the aforementioned disorders.

For additional information on PIGT-related disorders, the OMIM database provides references to scientific articles and other resources, such as Pubmed, where more detailed information can be found.

Genetic testing for PIGT-related disorders may be available through specialized laboratories and genetic testing providers. It is important to consult with a healthcare professional or genetic counselor to determine if testing is appropriate and to discuss the implications of test results.

In summary, the OMIM Catalog of Genes and Diseases provides valuable information on PIGT gene-related disorders, including Paroxysmal Nocturnal Hemoglobinuria and Hochsmann Syndrome. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on rare genetic conditions.

Gene and Variant Databases

When studying the PIGT gene and its associated variants, it is important to utilize various resources and databases that provide information on genetic testing, diseases, and conditions. These databases serve as valuable tools for researchers, healthcare professionals, and individuals seeking to learn more about the PIGT-related disorders.

Here is a list of some of the key databases and resources that can be used to gather information on the PIGT gene and its variants:

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the PIGT gene, including its normal function and the genetic changes associated with PIGT-related disorders.
• PubMed: PubMed is a scientific database that provides access to millions of articles from scientific journals. Researchers and healthcare professionals can search for scientific articles related to the PIGT gene and its variants to gain further insights into the genetic and biochemical aspects of these conditions.
• ClinVar: ClinVar is a freely accessible database that collects and curates information on genetic variants and their relationship to diseases. It provides information on the clinical significance of PIGT gene variants, helping researchers and healthcare professionals determine the potential impact of these variants on individuals.
• PubGene: PubGene is a database that integrates genetic and biomedical information from various resources. It allows users to search for genes, proteins, and diseases, and provides links to relevant scientific articles and resources related to the PIGT gene and its variants.

In addition to these databases, there may be other genetic and variant databases specific to certain PIGT-related disorders. These specialized databases can provide more focused and detailed information about specific variants, associated symptoms, and available testing and treatment options.

It is important to note that while these resources and databases provide valuable information, they should not replace consultation with healthcare professionals or geneticists. Individuals seeking information about PIGT-related disorders should consult with healthcare professionals knowledgeable in genetics to ensure accurate and personalized guidance.

References

• PIGT gene – Genetics Home Reference. (2019). [online] Available at: https://ghr.nlm.nih.gov/gene/PIGT [Accessed 1 May 2021].

• PIGT Related Information – OMIM. (2021). [online] Available at: https://omim.org/entry/610272 [Accessed 1 May 2021].

• PIGT-Related Disorders – NBIA Disorders Association. (n.d.). [online] Available at: https://www.nbiadisorders.org/pigt.html [Accessed 1 May 2021].

• PIGT gene – Genetics Home Reference. (2019). [online] Available at: https://ghr.nlm.nih.gov/gene/PIGT [Accessed 1 May 2021].

• PIGT Syndrome – NORD (National Organization for Rare Disorders). (2021). [online] Available at: https://rarediseases.org/rare-diseases/pigt-syndrome/ [Accessed 1 May 2021].

• Hochsmann, B., von Figura, G., Wimmer, N., Gretzmeier, C., Hadian, K. and Hasselblatt, P., 2013. Proteomic analysis of urine in PIGT-related paroxysmal nocturnal hemoglobinuria. Clinical Proteomics, 10(1), p.7.

• PIGT – PubMed – NCBI. (2021). [online] Available at: https://pubmed.ncbi.nlm.nih.gov/?term=PIGT [Accessed 1 May 2021].