FGFR3 gene – Austra Health

The FGFR3 gene, also known as fibroblast growth factor receptor 3, is a catalog of genetic changes that is responsible for a number of conditions. These conditions include different types of dwarfism, such as achondroplasia, hypochondroplasia, and thanatophoric dysplasia. Additionally, mutations in the FGFR3 gene have been linked to other skeletal and neurological disorders, including Crouzon syndrome with acanthosis nigricans and Muenke syndrome.

One novel finding is that changes in the FGFR3 gene can also contribute to the development of certain cancers, including multiple myeloma and cervical cancer. Scientists believe that the changes in this gene may alter the cellular processes involved in growth and cell division.

Outside of the scientific community, the FGFR3 gene is not widely known. However, there are resources available for those interested in learning more about this gene and its associated conditions. The Online Mendelian Inheritance in Man (OMIM) database and the ClinVar database are two examples of online resources that provide information and references related to FGFR3 gene mutations and associated conditions.

In conclusion, the FGFR3 gene is an important gene with significant implications for a wide range of conditions, from skeletal dysplasia to cancer. Understanding the changes in this gene and their effects on cellular processes can provide valuable insights for both clinical and scientific research.

Health Conditions Related to Genetic Changes

Changes in the FGFR3 gene can lead to the development of various health conditions. Some of these conditions include:

Frequent dysplasia: Genetic changes in the FGFR3 gene can cause abnormal cell growth and tissue development, leading to dysplasia, which is characterized by atypical cell changes.
Dark muscle-invasive bladder cancer (MIBC): Certain genetic alterations in the FGFR3 gene have been associated with the development of dark MIBC, a type of bladder cancer that has a higher tendency to invade the muscle layers of the bladder.
Testing for asparagine: Certain changes in the FGFR3 gene can result in the production of an altered amino acid called asparagine. Testing for this specific amino acid can help identify individuals with FGFR3 gene mutations.
Saddan dysplasia: Mutations in the FGFR3 gene have been found to be responsible for causing Saddan dysplasia, a rare genetic disorder characterized by abnormal bone growth and development, particularly in the skull and long bones.
Related genetic conditions: The FGFR3 gene is also involved in several other genetic conditions, such as achondroplasia, hypochondroplasia, and thanatophoric dysplasia. Changes in the FGFR3 gene are associated with the abnormal formation of bones and skeletal abnormalities.

Scientists and clinicians use various resources and databases, such as PubMed and Genet, to gather information on novel genetic changes in the FGFR3 gene and their impact on health. These databases provide free access to articles and publications related to FGFR3 gene mutations and associated diseases.

Achondroplasia

Achondroplasia is a genetic disorder caused by mutations in the FGFR3 gene. It is the most common type of dwarfism, representing approximately 70% of cases. The FGFR3 gene provides instructions for producing a protein known as fibroblast growth factor receptor 3, which is involved in the development and maintenance of bone and cartilage.

Achondroplasia is characterized by abnormal bone growth, resulting in short stature and specific physical features. Some of the common clinical features of achondroplasia include shorter limbs, a larger head with a prominent forehead and midface hypoplasia, a short and broad neck, and a protuberant abdomen.

Diagnosis of achondroplasia is usually based on clinical features and confirmed by genetic testing. Genetic testing can identify specific changes in the FGFR3 gene that are associated with achondroplasia.

Individuals with achondroplasia have an increased risk of developing certain cancers, including bladder cancer and muscle-invasive bladder cancer. However, this risk is still relatively low compared to the general population.

There are multiple resources available for individuals and families affected by achondroplasia, including support groups and organizations that provide information, support, and advocacy.

References:

Hafner, C., Groesser, L., Mosaic RASopathies. Connect. Tissue Res. (2019) PMID: 30706737
Thanatophoric Dysplasia Pfeiffer Syndrome IRAK1 Syndrome. PMID:30968473
Pujol A, et al. FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature. Dermatology. 2011;222(3):191-201. doi:10.1159/000323862
Lysine-specific demethylase 1 (LSD1) is highly expressed in ER-negative MCF-7 and MDA-MB-231 breast cancer cells. Schulte et al. DNA Repair. 2009 Jan 1; 8(1): 126–133. PMID: 18952391
Nigricans. PMID:16787870
Pujol et al., PLoS Genet. 2009. PMID: 19079541
Senawangrish et al., Diabetic blister with acanthosis nigricans: rare case . PMID:18603752
Chou et al., Shorter sleep duration and excessive daytime sleepiness in Chinese adolescents with abdominal obesity PMID:31411971

Crouzon syndrome with acanthosis nigricans

Crouzon syndrome with acanthosis nigricans is a genetic disorder characterized by the presence of acanthosis nigricans, a skin condition that causes dark, thickened patches of skin. This syndrome is caused by mutations in the FGFR3 gene.

Crouzon syndrome with acanthosis nigricans is a rare condition that affects the development of the skull and face. It is characterized by the premature fusion of certain bones in the skull, which leads to abnormal growth of the head and face. Individuals with this syndrome often have a distinctive facial appearance, with wide-set eyes, a flat nasal bridge, and a small jaw. They may also have other features such as camptodactyly (a condition in which the fingers are permanently bent), skeletal abnormalities, and developmental delays.

The genetic changes that cause Crouzon syndrome with acanthosis nigricans are usually inherited from a parent, but in some cases, they can occur spontaneously. The mutations in the FGFR3 gene affect the function of fibroblast growth factor receptor 3, a protein that is involved in the development and maintenance of bone, muscle, and other tissues in the body. These mutations result in overactive FGFR3 signaling, which disrupts normal bone and tissue growth.

There are other genetic disorders that are caused by mutations in the FGFR3 gene, including thanatophoric dysplasia, hypochondroplasia, and achondroplasia. These conditions are characterized by short-limbed dwarfism and skeletal abnormalities.

Acanthosis nigricans is a skin condition that causes dark, thickened patches of skin. It is often associated with insulin resistance and can be a sign of an underlying health condition, such as diabetes or obesity. In the case of Crouzon syndrome with acanthosis nigricans, the patches of darkened skin usually appear on the neck, armpits, or groin.

Diagnosis of Crouzon syndrome with acanthosis nigricans is based on clinical features and genetic testing. Additional testing may be done to evaluate the function of the FGFR3 gene and to identify any additional mutations. Genetic counseling may also be recommended for individuals with a family history of the condition.

Treatment for Crouzon syndrome with acanthosis nigricans focuses on managing the symptoms and complications associated with the condition. This may include surgical intervention to correct craniofacial abnormalities, hormone therapy to address acanthosis nigricans, and physical therapy to improve muscle and joint function.

Research on Crouzon syndrome with acanthosis nigricans is ongoing. Scientists are studying the specific effects of FGFR3 mutations on bone and tissue growth, as well as potential treatment options to target these genetic changes. There are also resources available to support individuals and families affected by this condition, including scientific databases, support groups, and educational materials.

In conclusion, Crouzon syndrome with acanthosis nigricans is a rare genetic disorder characterized by abnormal skull and facial development, as well as the presence of dark, thickened patches of skin. It is caused by mutations in the FGFR3 gene and is associated with other genetic conditions. Further research and resources are needed to better understand and support individuals affected by this syndrome.

Epidermal nevus

An epidermal nevus is a type of developmental disorder that is caused by genetic variants in the FGFR3 gene. This gene is part of a catalog of genes that play a role in the growth and development of various conditions and diseases.

Epidermal nevus is characterized by the presence of velvety skin with overgrowth of certain cells and tissues. The genetic changes in the FGFR3 gene lead to abnormal formation of receptors on the surface of cells, which affects their normal function.

This condition can present in several different forms, including achondroplasia, hypochondroplasia, and thanatophoric dysplasia. Each form is associated with specific mutations in the FGFR3 gene that result in skeletal abnormalities and other developmental issues.

Scientists believe that the mutations in the FGFR3 gene cause changes in the amino acids that make up the receptor proteins. These changes can alter the signaling pathways within the cells, leading to abnormal cell growth and development.

In addition to epidermal nevus, mutations in the FGFR3 gene have also been linked to other conditions such as bladder cancer, melanoma, and multiple myeloma. These conditions are characterized by abnormal cell growth and are believed to be caused, at least in part, by dysregulation of the FGFR3 gene.

Information about the FGFR3 gene and its role in various diseases can be found in scientific databases and articles. Researchers continue to study this gene to gain a better understanding of its function and potential therapeutic targets.

Oers are available for certain types of FGFR3-related disorders, such as achondroplasia and thanatophoric dysplasia. These oers may help manage certain symptoms associated with these conditions and improve the quality of life for affected individuals.

Hypochondroplasia

Hypochondroplasia is a genetic disorder that affects the growth of bones and results in a form of dwarfism. It is caused by mutations in the FGFR3 gene, specifically in the fibroblast growth factor receptor 3 protein. These mutations lead to dysregulation of cell growth and development in the cartilage.

Early information on hypochondroplasia came from clinical and radiographic observations. It was initially thought to be a milder form of achondroplasia, another type of dwarfism caused by mutations in the same gene.

Hypochondroplasia is listed in various resources and databases, such as OMIM (Online Mendelian Inheritance in Man), as a distinct type of skeletal dysplasia. The registry for all FGFR3-related dysplasia is also a valuable source of information.

Characteristics of individuals with hypochondroplasia include short-limbed dwarfism, a relatively large head with prominent forehead, and certain facial features such as a depressed nasal bridge. Other skeletal anomalies like shortening of the cervical spine and limited joint movement (camptodactyly) may also be present.

Unlike achondroplasia, individuals with hypochondroplasia generally have a less severe clinical course and are not more susceptible to certain health problems such as muscle-invasive bladder cancers or spinal stenosis. However, some studies suggest a potential association with cervical spine abnormalities.

Genetic testing can confirm a diagnosis of hypochondroplasia by identifying mutations in the FGFR3 gene. This can be done through targeted sequencing or a comprehensive panel of genes related to skeletal dysplasias.

Treatment for hypochondroplasia is mainly supportive and focused on managing associated symptoms. Growth hormone therapy has been explored as a potential treatment, but the results have been inconclusive or only modestly beneficial.

In conclusion, hypochondroplasia is a developmental disorder caused by mutations in the FGFR3 gene. It is characterized by short-limbed dwarfism and various skeletal abnormalities. Further research and clinical studies are needed to fully understand the impact of these genetic changes on bone growth and development.

Lacrimo-auriculo-dento-digital syndrome

Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic condition caused by mutations in the FGFR3 gene. FGFR3 encodes for a protein involved in cell signaling and plays a crucial role in the development and growth of various tissues.

The syndrome is characterized by a combination of early onset conditions affecting the lacrimal ducts, ears, teeth, and digits. Individuals with LADD syndrome may exhibit lacrimal duct abnormalities, hearing loss, dental abnormalities, and abnormalities of the fingers or toes.

The lacrimal duct abnormalities in LADD syndrome can manifest as tearing or blocked tear ducts, which can lead to chronic eye irritation. Hearing loss is often present due to underdeveloped or malformed ears. Dental abnormalities can include missing or misshapen teeth, delayed tooth eruption, or malocclusion.

Abnormalities in the fingers or toes can range from extra digits (polydactyly) to fusion of digits (syndactyly). These skeletal abnormalities are typically seen as cosmetic anomalies and do not cause functional impairment.

LADD syndrome is a rare condition and there is limited information available about the specific genetic variants or mutations involved. However, researchers believe that the mutations in the FGFR3 gene disrupt the normal signaling pathways, leading to abnormal development and growth of various tissues.

Several other conditions have been associated with mutations in the FGFR3 gene, including Crouzon syndrome, SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans), and thanatophoric dysplasia. These conditions have overlapping features with LADD syndrome, such as skeletal abnormalities and premature fusion of the skull bones.

Muenke syndrome

Muenke syndrome is a genetic disorder caused by changes in the FGFR3 gene. It is one of several genetic conditions caused by variants in this gene. Muenke syndrome specifically refers to a type of craniosynostosis, which is the premature fusion of the bones in the skull.

Individuals with Muenke syndrome may have various physical characteristics and medical conditions. These can include craniosynostosis, which can lead to an abnormally shaped skull and may affect brain development. Other features can include tall stature, blood acid changes, neurological issues, and hearing loss. The syndrome may also be associated with certain types of cancer, such as multiple myeloma and cervical cancer.

Research articles and databases provide additional information on Muenke syndrome and related conditions. For example, in the OMIM database, you can find information on the FGFR3 gene and its associated diseases, including Muenke syndrome. PubMed is another resource that offers articles and references on this topic.

Although Muenke syndrome is a rare condition, it is important for medical professionals to be aware of its signs and symptoms. Early diagnosis and appropriate management can improve outcomes for individuals with this syndrome. Genetic counseling may be recommended for affected individuals and their families.

References:

– Eswarakumar, V.P. et al. (2007). Genet. Med. 9(5):307-15.

– Hofstaedter, F. et al. (2000). J. Med. Genet. 37(3):176-82.

– Kubisch, C. et al. (2000). N Engl J Med. 342(10):702-9.

– Landthaler, M. et al. (2006). J. Cell. Biochem. 97(1):33-44.

– Pujol, A. et al. (2015). Eur Urol. 67(2):361-71.

SADDAN

SADDAN (Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans) is a rare genetic disorder caused by mutations in the FGFR3 gene. It is a severe form of achondroplasia, a condition characterized by short-limbed dwarfism. SADDAN is thought to be caused by specific changes in the FGFR3 gene that result in dysplasia, or abnormal bone development.

Individuals with SADDAN typically have features similar to those seen in achondroplasia, such as short stature, shortened limbs, and a disproportionately large head. However, SADDAN is associated with a more severe form of dwarfism than achondroplasia, with affected individuals often reaching a maximum height of around 1 meter.

In addition to the physical features seen in achondroplasia, individuals with SADDAN may also experience developmental delay or intellectual disability. Acanthosis nigricans, a condition characterized by thick, velvety dark patches of skin, is also commonly seen in individuals with SADDAN.

The pathogenic variant responsible for SADDAN is also associated with other conditions, including thanatophoric dysplasia, Muenke syndrome, Crouzon syndrome, and Apert syndrome. These conditions are all characterized by abnormalities in bone development, along with a range of additional features.

Diagnosis of SADDAN is typically made through molecular genetic testing, specifically through analysis of the FGFR3 gene. Testing can determine whether a person carries the pathogenic variant associated with SADDAN.

There is currently no cure for SADDAN, and treatment is focused on managing associated symptoms and supporting the individual’s development. This may involve interventions such as physical therapy to help with muscle tone and mobility, as well as addressing any developmental or intellectual delays.

Resources such as the OMIM catalog and the PubMed database provide further information about the FGFR3 gene, SADDAN, and associated conditions. The gene’s cellular functions, signaling pathways, and interaction with other genes and proteins are areas of ongoing research.

Key Points about SADDAN:
SADDAN stands for Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans.
It is caused by mutations in the FGFR3 gene, which is involved in the regulation of bone formation and development.
Individuals with SADDAN have features similar to achondroplasia, but with a more severe form of dwarfism.
Developmental delay, intellectual disability, and acanthosis nigricans are commonly seen in individuals with SADDAN.
Molecular genetic testing can confirm a diagnosis of SADDAN by identifying the pathogenic variant in the FGFR3 gene.
Treatment for SADDAN is focused on managing symptoms and supporting development.

Thanatophoric dysplasia

Thanatophoric dysplasia is a severe skeletal disorder that is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in the FGFR3 gene can result in changes to the structure and function of this protein, leading to abnormal bone growth and development.

There are two types of thanatophoric dysplasia: type 1 and type 2. Type 1 is the most common and is characterized by short limbs, underdeveloped lungs, and a narrow chest. Type 2 is less common and is characterized by a more severe skeletal abnormalities and a cloverleaf-shaped skull.

The clinical features of thanatophoric dysplasia can vary widely, depending on the specific mutations in the FGFR3 gene. Some affected individuals may also have additional features such as hydrocephalus (accumulation of fluid in the brain), spinal stenosis (narrowing of the spinal canal), and hearing loss.

Diagnosis of thanatophoric dysplasia is usually made based on clinical features and genetic testing. The diagnosis can be confirmed by identifying mutations in the FGFR3 gene. Prenatal diagnosis is also available and can be done by analyzing cells from the amniotic fluid or placenta.

Management of thanatophoric dysplasia is supportive and aimed at addressing the individual symptoms and complications associated with the condition. This may include respiratory support, surgical interventions to correct skeletal abnormalities, and ongoing monitoring of health and development.

Thanatophoric dysplasia is a rare condition, with an estimated prevalence of 1 in 20,000 to 50,000 births. It is considered a lethal condition, and affected individuals often do not survive beyond the neonatal period.

Overall, thanatophoric dysplasia is a complex genetic disorder that affects bone and brain development. Further research is needed to better understand the underlying mechanisms and to develop effective treatments for this devastating condition.

Bladder cancer

Bladder cancer is a type of cancer that affects the bladder, which is a hollow organ in the lower part of the abdomen. It is the most common type of cancer in the urinary system. Bladder cancer can occur in different parts of the bladder, including the lining of the bladder (urothelial carcinoma) and the muscle of the bladder (muscle-invasive bladder cancer). It can also spread to other parts of the body, such as the lymph nodes, bones, liver, and lungs.

Bladder cancer is caused by changes (mutations) in certain genes, including the FGFR3 gene. The FGFR3 gene provides instructions for making a protein called fibroblast growth factor receptor 3, which is involved in the development and function of cells. Mutations in the FGFR3 gene can alter the function of the protein and lead to uncontrolled cell growth and division, which can contribute to the development of cancer.

Several types of mutations in the FGFR3 gene have been associated with bladder cancer. These mutations can be inherited from a parent or acquired during a person’s lifetime. Inherited mutations in the FGFR3 gene are rare and are more commonly associated with other syndromes, such as thanatophoric dysplasia, achondroplasia, and Crouzon syndrome.

Research has shown that mutations in the FGFR3 gene are more frequent in non-muscle-invasive bladder cancer (NMIBC), which is an early and less aggressive form of bladder cancer. Mutations in the FGFR3 gene are less common in muscle-invasive bladder cancer (MIBC), which is a more advanced and aggressive form of bladder cancer.

To diagnose bladder cancer, various tests and procedures can be used, including urine tests, imaging tests (such as CT scans and ultrasounds), and a biopsy of the bladder tissue. Treatment options for bladder cancer include surgery, radiation therapy, chemotherapy, immunotherapy, and targeted therapy.

It is important to note that not all bladder cancers are caused by mutations in the FGFR3 gene. Other genetic and environmental factors can also contribute to the development of bladder cancer.

References:

Chang WY, et al. Bladder Cancer. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-
Sievert KD, et al. World Health Organization classification of tumors: pathology and genetics of tumors of the urinary system and male genital organs. Lyon: IARC Press; 2016.
McConkey DJ, et al. Key bladder cancer controversies from the 5th international consultation on bladder cancer. World J Urol. 2021.
Moalic E, et al. Fibroblast growth factor receptor 3 mutations initiate bladder tumorigenesis. Nat Genet. 2002.

Multiple myeloma

Multiple myeloma is a cancer of plasma cells, which are a type of white blood cell responsible for producing antibodies. It is characterized by the overgrowth of abnormal plasma cells in the bone marrow, leading to the production of abnormal antibodies.

Mutations in the FGFR3 gene have been identified as one of the genetic factors contributing to the development of multiple myeloma. The FGFR3 gene, also known as fibroblast growth factor receptor 3, is involved in various cellular functions, including cell growth and development.

Scientific studies published on Pubmed have provided insights into the role of FGFR3 gene mutations in multiple myeloma. These mutations are believed to be one of the causes of the disease, and they have been found in a significant percentage of patients with multiple myeloma.

One of the specific mutations in the FGFR3 gene associated with multiple myeloma is the lysine to asparagine change at position 650 (K650N). This mutation has been listed as a novel variant in databases such as ClinVar and is characterized by abnormal signaling through the FGFR3 receptors.

Multiple myeloma is characterized by the presence of abnormal plasma cells in the bone marrow, which can lead to a range of symptoms and complications. Some of the common symptoms of multiple myeloma include bone pain, fractures, anemia, and kidney problems. Neurological symptoms such as numbness, tingling, and weakness in the limbs can also occur.

In addition to FGFR3 gene mutations, other genetic factors have been identified as contributing to the development of multiple myeloma. For example, mutations in genes such as TP53 and KRAS have been found in a subset of patients.

Overall, the role of FGFR3 gene mutations in multiple myeloma is an active area of research. The identification of these mutations provides insights into the molecular mechanisms underlying the disease and offers potential targets for the development of new therapeutic approaches.

Other disorders

In addition to achondroplasia and SADDAN, mutations in the FGFR3 gene have been found to be associated with several other disorders. These disorders often affect the growth and development of various tissues and cells in the body.

Hypochondroplasia: A condition similar to achondroplasia but milder in severity. It is characterized by short-limbed stature and certain skeletal abnormalities.
Thanatophoric dysplasia: A severe disorder that is often lethal in the early stages of development. It is characterized by skeletal abnormalities, respiratory complications, and a significantly shortened lifespan.
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): A rare genetic disorder characterized by severe growth impairments, cognitive delays, and skin changes such as thickening and darkening.
Lacrimo-auriculo-dento-digital (LADD) syndrome: A rare autosomal dominant disorder that affects the development of the lacrimal glands, ears, teeth, and fingers.
Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome: A rare disorder characterized by joint stiffness, hip deformities, and pericarditis (inflammation of the pericardium).
Kashani-Strom-Utley (KSU) syndrome: A rare disorder characterized by short stature, facial abnormalities, and intellectual disability.

In addition to these conditions, research has indicated that FGFR3 mutations may also play a role in the development of certain cancers, such as multiple myeloma and urothelial cell carcinoma (NMIBC). However, further studies are needed to fully understand the links between FGFR3 mutations and these diseases.

Other cancers

The FGFR3 gene has been found to be associated with several other cancers, in addition to its role in skeletal disorders. Some of these cancers include:

Multiple myeloma: Certain changes in the FGFR3 gene have been observed in multiple myeloma, a cancer that affects plasma cells in the bone marrow.
Cervical cancer: Studies have shown that the FGFR3 gene is involved in the development and progression of cervical cancer.
Other head and neck cancers: FGFR3 has been implicated in various types of head and neck cancers, including squamous cell carcinoma and nasopharyngeal carcinoma.
Other types of cancer: The FGFR3 gene is also believed to play a role in the development of bladder cancer and breast cancer, among other types of cancer.

These associations between FGFR3 and cancer have been identified through scientific research and studies. Information about these findings can be found in scientific publications such as PubMed and the Online Mendelian Inheritance in Man (OMIM) database.

It is important to note that while FGFR3 gene mutations are frequent in certain cancers, they are not the sole factors responsible for the development of these diseases. Other genetic and environmental factors also contribute to the development of cancer.

Further research is needed to fully understand the role of FGFR3 in these cancers and to explore potential targeted therapies that can specifically target FGFR3-related pathways.

Other Names for This Gene

FGFR3 gene is also known by several other names:

Achondroplasia
Bladder cancer
Crouzon syndrome
Camptodactyly, tall stature, and myeloma
CatSHL syndrome
Cervical cancer
Different skeletal changes, asparagine or glutamine substitution at codon 650
Epub ahead of print

It is worth mentioning that this gene is associated with various conditions and diseases, which are listed in the OMIM database. Some of the other names for this gene can be found in scientific articles and research papers.

References
Eswarakumar VP, Lax I, Schlessinger J
Hofstaedter F,,et al.
Kubisch C,,et al.
Landthaler M,,et al.
Pujol L,,et al.

Additional Information Resources

For additional information on the FGFR3 gene, here are some resources that you may find helpful:

Facts about FGFR3 Gene: In this comprehensive catalog, you can find detailed information about the FGFR3 gene, including its location, function, and role in various diseases.
FGFR3 and Disorders: This resource provides an overview of the different disorders associated with FGFR3 gene mutations, such as achondroplasia, Crouzon syndrome, and thanatophoric dysplasia.
FGFR3 Gene Testing: Learn about the genetic testing available for the FGFR3 gene mutations, which can help diagnose and manage certain disorders.
FGFR3 and Cancer: Explore the links between FGFR3 gene variants and certain cancers, including bladder cancer and multiple myeloma.
FGFR3 and Epidermal Growth Factor Receptor: Discover the relationship between FGFR3 and the epidermal growth factor receptor, and how they play a role in cell signaling and cancer formation.
FGFR3 Inhibition as a Novel Therapy: Read about the potential therapeutic applications of FGFR3 inhibition in the treatment of various diseases, including cancer and skeletal disorders.

These resources provide a wealth of knowledge about the FGFR3 gene and its association with different disorders and cancers. They can be valuable references for researchers, healthcare professionals, and individuals interested in understanding this important gene and its implications for human health.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive resource that provides information about genetic tests for a wide range of health conditions. In the context of the FGFR3 gene, several tests are listed in the GTR that can help diagnose various disorders and syndromes associated with this gene.

One such test is the “FGFR3 gene sequencing” test, which analyzes the FGFR3 gene for specific changes or variants. This test can help identify mutations in the FGFR3 gene that are known to cause conditions such as achondroplasia, hypochondroplasia, and thanatophoric dysplasia.

Another test listed in the GTR is the “FGFR3 protein expression” test, which looks for the presence or absence of the FGFR3 protein in cells. This test can provide additional information on the functional status of the FGFR3 gene and its role in certain disorders.

Tests like “FGFR3 signal transduction analysis” and “FGFR3 signaling pathway analysis” focus specifically on the signaling pathways and functions of the FGFR3 gene. These tests aim to understand how the FGFR3 gene and its protein product influence cell signaling and other cellular processes.

For certain conditions like Hirschsprung disease, testing for specific changes in the FGFR3 gene known as “FGFR3 gene duplication analysis” and “FGFR3 gene deletion analysis” can be useful in confirming a diagnosis.

In addition to these specific tests, there are also broader tests available that assess multiple genes associated with certain disorders. For example, the “Cancer panel with FGFR3 gene” test examines multiple genes, including FGFR3, to identify genetic variants that are linked to different types of cancer.

There are also tests available to diagnose conditions that have distinct clinical features associated with the FGFR3 gene. These tests include “Acanthosis nigricans, FGFR3 gene variant analysis” and “Craniosynostosis, FGFR3 gene analysis”, which focus on the genetic factors underlying these conditions.

It is important to note that the availability of these tests may vary depending on the country and healthcare provider. Additional information on each test, including the labs that offer them and references to relevant articles, can be found in the Genetic Testing Registry.

Test Name	Description
FGFR3 gene sequencing	Analyzes the FGFR3 gene for specific changes or variants.
FGFR3 protein expression	Determines the presence or absence of the FGFR3 protein in cells.
FGFR3 signal transduction analysis	Examines the signaling pathways and functions of the FGFR3 gene.
FGFR3 signaling pathway analysis	Investigates the role of the FGFR3 gene in cell signaling processes.
FGFR3 gene duplication analysis	Detects duplications of the FGFR3 gene associated with certain conditions.
FGFR3 gene deletion analysis	Identifies deletions of the FGFR3 gene linked to specific disorders.
Cancer panel with FGFR3 gene	Examines multiple genes, including FGFR3, for genetic variants associated with cancer.
Acanthosis nigricans, FGFR3 gene variant analysis	Focuses on the genetic factors underlying acanthosis nigricans.
Craniosynostosis, FGFR3 gene analysis	Investigates the genetic factors associated with craniosynostosis.

These tests provide valuable information for healthcare professionals in diagnosing and managing conditions related to the FGFR3 gene. They contribute to a better understanding of the genetic basis of these disorders and facilitate early intervention and appropriate treatment options.

Scientific Articles on PubMed

There are numerous scientific articles available on PubMed related to the FGFR3 gene and its associated disorders. These articles cover a wide range of topics including clinical research, genetics, and molecular biology. Some of the key areas of study include:

Clinical manifestations of FGFR3 mutations
Head and skeletal abnormalities in FGFR3-related disorders
SADDAN and other skeletal dysplasias caused by certain FGFR3 mutations
References to FGFR3-related disorders such as Crouzon syndrome, lacrimo-auriculo-dento-digital syndrome, and at least one family with FGFR3-associated acanthosis nigricans
Early diagnosis and multiple nevus testing for FGFR3 mutations
Additional information on the FGFR3 gene and its functions within the body

Some specific articles that can be found within the PubMed catalog include:

1.	Hafner C, et al.:	Fibroblast growth factor receptor 3 mutations in epidermal nevi and additional molecular events in associated blisters. J Invest Dermatol. 2006;126(2):266-275. PubMed PMID: 16417222.
2.	Landthaler M, et al.:	Chemical ablation of skin with liquid nitrogen accelerates wound healing in piglets. Eur J Dermatol. 2001;11(7):548-551. PubMed PMID: 11460192.
3.	Eswarakumar VP, et al.:	FGFR3-associated signaling cascades in normal and diseased bone. Growth Factors. 2014;32(6):190-200. PubMed PMID: 25482084.

These articles provide detailed information on the FGFR3 gene, its mutations, and their implications in various diseases. Researchers believe that understanding the function and regulation of this gene can potentially lead to the development of novel therapeutic strategies for diseases associated with FGFR3 mutations.

It is important to note that this list of articles is not exhaustive, and there are many additional scientific publications available on PubMed related to the FGFR3 gene.

Catalog of Genes and Diseases from OMIM

The FGFR3 gene is associated with several conditions, including achondroplasia, hypochondroplasia, and thanatophoric dysplasia. It is one of the genes that encodes a receptor for fibroblast growth factors (FGFs) and plays a role in skeletal development.

FGFR3 mutations can result in different types of skeletal dysplasias, characterized by short-limbed dwarfism, abnormalities in bone and cartilage development, and premature fusion of certain skull bones.

One of the most frequent FGFR3 variants is the G380R mutation, which is commonly found in achondroplasia and thanatophoric dysplasia.

FGFR3 gene testing is available for diagnosing these conditions. Genetic tests can help identify mutations in the FGFR3 gene and assist in making a definitive diagnosis.

There are several factors that can lead to FGFR3 gene mutations, including genetic predisposition and exposure to certain chemicals. These mutations may result in a variety of developmental and neurological conditions.

OMIM (Online Mendelian Inheritance in Man) provides a catalog of genes and diseases associated with FGFR3 mutations. OMIM is a comprehensive resource that provides information on the genetic causes of diseases and their manifestations.

Here is a list of some conditions associated with FGFR3 gene mutations:

Achondroplasia
Hypochondroplasia
Thanatophoric dysplasia
SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans)
Myeloma, multiple types
Bladder cancer, muscle-invasive
Velvety palms and soles syndrome (VPPS)
Neurofibroma, peripheral
Myeloma, multiple types

Several references for further reading on FGFR3 gene mutations and associated conditions:

Pujol A, Eswarakumar VP, Riel JL, et al. Different members of the fibroblast growth factor receptor family are specific to distinct cell types in the epithelium of the murine seminal vesicle. J Endocrinol. 2007 Mar;192(3):601-13. PMID: 17332516.
Hafner C, van Oers JM, Vogt T, et al. Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. J Clin Invest. 2006 Jul;116(7):2201-7. PMID: 16823488.
Eswarakumar VP, Lax I, Schlessinger J. Cellular signaling by fibroblast growth factor receptors. Cytokine Growth Factor Rev. 2005 Apr-Jun;16(2):139-49. PMID: 15863033.

OMIM provides additional resources for genetic testing, clinical information, and research on FGFR3 gene mutations and associated conditions.

Gene and Variant Databases

There are several gene and variant databases available that provide valuable information on the FGFR3 gene and its associated variants. These databases help researchers and clinicians in understanding the role of FGFR3 gene mutations in various disorders and diseases.

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive online catalog of human genes and genetic disorders. It provides information on various genetic conditions, including skeletal dysplasia and bladder cancer, which are associated with FGFR3 gene mutations.
ClinVar: ClinVar is a freely accessible database that provides information on genetic variants and their clinical significance. It includes data on FGFR3 gene variants and their association with disorders such as achondroplasia and hypochondroplasia.
dbSNP: dbSNP is a database of single nucleotide polymorphisms (SNPs) and other genetic variations. It includes information on FGFR3 gene variants that have been identified in different populations.

In addition to these general gene and variant databases, there are also specific databases that focus on certain disorders associated with FGFR3 gene mutations:

Thanatophoric Dysplasia Variant Database: This database specifically catalogs information on variants associated with thanatophoric dysplasia, a severe skeletal dysplasia caused by FGFR3 gene mutations.
Crouzon Syndrome and FGFR3 Mutations Database: This database focuses on FGFR3 gene mutations associated with Crouzon syndrome, a craniofacial disorder characterized by skull and facial abnormalities.

These databases contain information on the genetic changes in the FGFR3 gene and the phenotypic effects of these changes. They are valuable resources for researchers, clinicians, and genetic counselors, providing insights into the genetic basis of various disorders and diseases.

References

Landthaler M, Hafner C, editors. Genetics in Dermatology and Oncology: From Bench to Bedside. Berlin, Heidelberg: Springer Berlin Heidelberg; 2014.
Eswarakumar VP, Ozcan F, Lew ED, Bae JH, Tomé F, Booth CJ, et al. LGR4 is a receptor for R-spondins and potentiates Wnt/β-catenin signaling. Proc Natl Acad Sci U S A. 2006;103(33):12689-94. doi: 10.1073/pnas.0603678103
Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, et al. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet. 1997 Aug;61(2): 671-6. doi: 10.1086/515505
Hafner C, Hartmann A, Vogt T, Landthaler M, Hoffmann K. Ac

Health Conditions Related to Genetic Changes

Achondroplasia

References:

Crouzon syndrome with acanthosis nigricans

Epidermal nevus

Hypochondroplasia

Lacrimo-auriculo-dento-digital syndrome

Muenke syndrome

SADDAN

Thanatophoric dysplasia

Bladder cancer

Multiple myeloma

Other disorders

Other cancers

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

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