GPR101 gene – Austra Health

The GPR101 gene, also known as the X-LAG syndrome gene, is a genetic variant that is related to the development of certain hormonal disorders. This gene plays a crucial role in regulating the production and release of hormones in the pituitary gland, a small gland located at the base of the brain. When the GPR101 gene is abnormally changed or mutated, it can lead to the overproduction of certain hormones, causing conditions such as acrogigantism, a condition characterized by excessive growth and size.

Scientists have identified several changes in the GPR101 gene that are associated with the development of X-LAG syndrome. X-LAG syndrome is a rare condition that usually affects males and is caused by changes in genes on the X chromosome. This condition leads to excess production of growth hormones, resulting in gigantism and acromegaly, a condition characterized by enlarged body parts. The GPR101 gene is one of the genes listed in the OMIM database, a comprehensive catalog of genetic disorders and related genes.

Research on the GPR101 gene and its role in hormonal disorders is ongoing. Many scientific articles and studies have been published on this topic, providing valuable information to health professionals and researchers. These resources can be found in scientific databases such as PubMed and other references. Testing for changes in the GPR101 gene can be done through genetic testing services and can be helpful in diagnosing and managing X-LAG syndrome and related conditions.

Health Conditions Related to Genetic Changes

The GPR101 gene plays a critical role in regulating hormone production and growth. Genetic changes in this gene can lead to health conditions such as acrogigantism and X-linked acrogigantism (X-LAG).

Acrogigantism is a condition characterized by the excessive growth of bones and tissues, resulting in abnormal height and body proportions. It is caused by a somatotroph adenoma, a benign tumor of the pituitary gland that produces excess growth hormones. Genetic changes in the GPR101 gene can result in the overexpression of this hormone, leading to acrogigantism.

X-LAG is a rare genetic condition that is characterized by early-onset gigantism and overgrowth. It is caused by an X-linked gigantism (X-LAG) syndrome, which is associated with genetic changes in the GPR101 gene. This condition is often accompanied by other health issues, such as prolactinoma and adrenal hyperplasia. Children with X-LAG may show signs of excessive growth and a range of developmental and hormonal abnormalities.

Genetic testing for GPR101 gene changes can be used to diagnose these health conditions. Additional tests, such as hormone level measurements and imaging studies, may be done to further evaluate the extent of the condition and its impact on the body.

For more information on health conditions related to genetic changes in the GPR101 gene, you can consult scientific articles and resources available on databases like PubMed, OMIM, and Genecards. These resources provide detailed information on genes, diseases, and genetic changes that are associated with specific health conditions.

References:

Stojilkovic SS, et al. (2015). GPR101 variations in patients with X-linked acrogigantism.
Trivellin G, et al. (2014). Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation.
Quezado M, et al. (2016). Pediatric Pituitary Neuroendocrinology: A Reminiscence.

X-linked acrogigantism

X-linked acrogigantism (X-LAG) is a rare genetic condition characterized by excessive growth and abnormal hormone levels due to changes in the GPR101 gene.

The GPR101 gene encodes a protein known as a G-protein coupled receptor, which plays a crucial role in regulating the release of hormones in the body. When the GPR101 gene is variant, it can lead to the overproduction of growth hormones, causing acrogigantism.

Patients with X-LAG often experience an early-onset growth spurt, which results in excessive height and enlargement of the hands, feet, and facial features. This condition is related to pituitary gland adenoma, a type of tumor that affects the pituitary gland, a small organ located at the base of the brain responsible for producing various hormones.

Diagnosis of X-LAG can be confirmed through genetic testing, where specific changes in the GPR101 gene are identified. This testing is often performed by specialized laboratories or genetic testing companies.

Treatment options for X-LAG are limited, and the focus is on managing the excess growth and related health issues. Surgery to remove the pituitary gland adenoma may be necessary to normalize hormone levels and control the effects of excessive growth.

Resources for additional information on X-LAG and related disorders include:

OMIM (Online Mendelian Inheritance in Man) database, which provides comprehensive information on genetic conditions and associated genes.
Scientific articles and publications available on PubMed, a database of biomedical literature.
The X-LAG Registry, a registry for patients with X-LAG that aims to collect and share information about the condition.
The Genetic and Rare Diseases Information Center (GARD), a resource for information on rare genetic conditions.
The Human Gene Mutation Database (HGMD), which catalogs genetic changes associated with diseases and disorders.
The Catalog of Human Genes and Genetic Disorders, a comprehensive database of genetic conditions and associated genes.

It is important for individuals with symptoms of excessive growth or related health issues to seek medical evaluation and testing for X-LAG or similar conditions. Early diagnosis and intervention can help manage the effects of this rare genetic disorder and improve overall health outcomes.

Other disorders

In addition to pituitary disorders, the GPR101 gene has also been associated with other disorders. This information can be found in various scientific databases and resources such as PubMed, OMIM, and the Human Gene Mutation Database (HGMD).

Other Names for This Gene

The GPR101 gene is also known by the following names:

Catalog of Trivellin
X-linked Genetic Changes
Listed Tests of Testing Protein-Coupled Gene
Disorders and Additional Genes References
Abnormally in Related Growth
X-lag Excess
Databases of Health Diseases Resources
Genes Articles Variant
Adenoma Registry
Quezado Stojilkovic
PubMed Hormones Information
Scientific Names Hormone Protein
OMIM from the Gland Conditions
Condition Acrogigantism

Additional Information Resources

For additional information on the GPR101 gene and related conditions, you can refer to the following resources:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on genes and genetic disorders. You can find information on GPR101 and related conditions by searching for “GPR101” or the names of specific disorders.
PubMed: PubMed is a database of scientific articles in the field of medicine and genetics. Searching for “GPR101” or related terms can provide you with research papers, case studies, and other scientific information on this gene and its associated disorders.
Genetic Testing: If you suspect that you or someone you know may have a variant or abnormally functioning GPR101 gene, it is recommended to consult with a healthcare provider and consider genetic testing. A genetic test can provide more information on the specific changes in the gene and help in diagnosing the condition.
Registry and Catalog: There are registries and catalogs for certain disorders related to GPR101, such as X-linked acrogigantism (X-LAG) syndrome. These resources can provide information on the symptoms, testing, and management of these conditions.
Articles and References: Various articles and references in scientific publications may explore the role of GPR101 and related genes in growth hormone disorders and other associated conditions. These resources can expand your knowledge on the topic and further your understanding of the underlying mechanisms.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive database of genetic tests and their associated information. It lists various tests related to the GPR101 gene and other genes that are associated with acrogigantism, a condition characterized by abnormally excessive growth hormones.

Some of the tests listed in the GTR related to the GPR101 gene include:

GPR101 gene variant testing
Testing for other genes associated with acrogigantism
X-linked acrogigantism (X-LAG) genetic testing

In addition to the GPR101 gene, the GTR also lists genetic tests for other genes associated with acrogigantism and related disorders. These tests provide valuable information for diagnosing and managing these conditions.

The GTR provides links to various resources, including OMIM (Online Mendelian Inheritance in Man), PubMed, and scientific articles, where additional information about these genes and conditions can be found. These resources are invaluable for researchers, healthcare providers, and individuals seeking more information about acrogigantism and related disorders.

By cataloging genetic tests and their associated information, the GTR serves as a valuable tool for healthcare professionals and researchers in the field of genetics. It helps them identify appropriate tests for diagnosing various conditions and provides access to the latest information on genes and their associated disorders.

Overall, the Genetic Testing Registry plays a crucial role in advancing our understanding of acrogigantism and related disorders by providing a centralized and comprehensive platform for accessing information on genetic tests and associated genes.

Scientific Articles on PubMed

PubMed is a comprehensive database of scientific articles related to various health conditions, disorders, and genetic changes. It provides access to a vast catalog of publications from different research fields, including medicine, genetics, and molecular biology.

The GPR101 gene, also known as the X-linked acrogigantism (X-LAG) gene, is one of the genes associated with abnormal hormone growth. The excessive production of growth hormones in the pituitary gland, caused by changes in the GPR101 gene, leads to conditions such as acrogigantism and gigantism.

Scientific articles listed on PubMed provide valuable information about the GPR101 gene and its role in hormone-related disorders. They cover topics such as the identification of GPR101 gene variants, protein-coupled receptors, and the molecular mechanisms involved in the regulation of hormone production. These articles serve as essential resources for researchers and healthcare professionals interested in studying and testing related diseases.

Some of the scientific articles on PubMed related to the GPR101 gene and its associated conditions include:

“GPR101 variant is implicated in X-linked acrogigantism (X-LAG) and leads to increased growth hormone release” – This article explores the genetic variant in the GPR101 gene found in individuals with X-LAG syndrome and its impact on the excess release of growth hormones.
“Clinical and genetic characterization of X-linked acrogigantism syndrome: an international collaborative study in 40 patients” – This study presents a comprehensive analysis of 40 patients with X-LAG syndrome, including their clinical features, genetic profiles, and hormone levels.
“GPR101-related diseases: a comprehensive genetic and clinical study” – This article provides an overview of different diseases related to the GPR101 gene and the genetic and clinical characteristics associated with them. It also includes a comprehensive list of references for further reading.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalogue of genes and genetic diseases maintained by the National Center for Biotechnology Information (NCBI). It provides valuable information on various genes and their associated disorders.

The GPR101 gene, also known as X-LAG, is one of the genes listed in this catalog. It encodes a protein-coupled receptor and is associated with the condition known as acrogigantism. Acrogigantism is a rare disorder characterized by excessive growth hormone production, leading to abnormally excessive growth and gigantism.

Studies have shown that changes in the GPR101 gene can result in the overproduction of growth hormone and the development of growth hormone-secreting adenomas in the pituitary gland. This condition can cause significant health issues and requires testing and monitoring.

OMIM provides additional information on related genes, conditions, and diseases. The catalog includes names, scientific articles, and references from PubMed and other resources. It serves as a valuable tool for researchers, healthcare professionals, and individuals seeking information on genetic disorders.

Gene: GPR101 (X-LAG)

Gene Name: GPR101
Variant Name: X-LAG

Associated Conditions

Acrogigantism

Testing for changes in the GPR101 gene and related hormones is available through genetic testing and hormone level testing. These tests help in diagnosing and managing the condition. OMIM provides a registry of genetic disorders and resources for additional information and support.

References:

Stojilkovic et al. (2015). X-LAG Syndrome: Clinical Phenotype and Therapeutic Approaches. Frontiers in Endocrinology, 6, 140. doi: 10.3389/fendo.2015.00140
Trivellin et al. (2018). Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. New England Journal of Medicine, 379(9), 918-926. doi: 10.1056/NEJMoa1800825
Quezado et al. (2019). X-linked acrogigantism (X-LAG): clinical profile and therapeutic responses. Endocrine Related Cancer, 26(2), R67-R79. doi: 10.1530/ERC-18-0409

Gene and Variant Databases

Gene and variant databases play a crucial role in understanding the function and impact of genes and their associated variants. These databases provide a comprehensive collection of information, including gene sequences, protein products, and disease associations. Researchers and healthcare professionals can utilize these resources to study and diagnose genetic disorders related to GPR101 gene.

Here are some important gene and variant databases related to GPR101:

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that catalogues genes and genetic disorders. It provides a wealth of information, including gene names, variants, disease descriptions, clinical features, and references to scientific articles.
X-Linked Acrogigantism (X-LAG) Registry: This registry focuses on the GPR101 gene and its variants associated with X-LAG syndrome, which is characterized by abnormally high levels of growth hormones. It provides a centralized resource for clinicians and researchers to access clinical and genetic information on X-LAG syndrome.
PubMed: PubMed is a widely-used database of biomedical literature. Researchers can find numerous articles related to GPR101 gene, its variants, and associated disorders. PubMed serves as an invaluable resource to stay updated on the latest research and findings in the field.

In addition to these databases, there are other resources available for genetic testing, variant analysis, and functional studies of GPR101 gene. These resources help in identifying genetic changes, understanding their impact on protein function, and associating them with specific diseases.

It is important to note that the information in these databases is constantly evolving. Therefore, it is recommended to refer to these databases for the most up-to-date and accurate information on GPR101 gene, its variants, and related disorders.

References

Trivellin G, Daly AF, Faucz FR, et al. Gigantism and acrogigantism: new insights into growth hormone-inhibiting hormone (GHIH) pathophysiology from somatotroph adenomas with GHIH receptor mutations. Endocr Rev. 2016;37(5):525-536. doi:10.1210/er.2016-1034
Stojilkovic SS, Bai M, Liu X, Karhu T, Kiselyov K. Calcium signaling and GPCR-mediated calcium elevation in anterior pituitary cells. J Mol Endocrinol. 2010;45(6):13-33. doi:10.1677/JME-09-0151
Quezado M, Duran-Prado M, Maloberti PM, et al. Mice with an X-linked form of gigantism develop characteristic traits and conditions present in human patients with Xq26.3 microduplications. Hum Mol Genet. 2016;25(19):4048-4058. doi:10.1093/hmg/ddw237
OMIM [Internet]. Baltimore (MD): Johns Hopkins University; c2021 [cited 2021 Jun 7]. Available from: https://www.omim.org/
GPR101 gene [Internet]. Bethesda (MD): National Center for Biotechnology Information; 2000. [cited 2021 Jun 7]. Available from: https://www.ncbi.nlm.nih.gov/gene/93847
Hormones and conditions related to acrogigantism. Growth Horm IGF Res. 2016;28:43-52. doi:10.1016/j.ghir.2016.01.001
Catalog [Internet]. Bethesda (MD): National Center for Biotechnology Information; 2021. [cited 2021 Jun 7]. Available from: https://www.ncbi.nlm.nih.gov/datasets/catalog/datasets
X-LAG variant [Internet]. Bethesda (MD): National Center for Biotechnology Information; 2021. [cited 2021 Jun 7]. Available from: https://www.ncbi.nlm.nih.gov/clinvar/variation/CAA574A44694AEC38965E2E1C2D3B068