The FGFR1 gene, also known as fibroblast growth factor receptor 1, is a gene that is located on the long arm of chromosome 8. It plays a crucial role in the development and function of various organs and tissues in the body.

Abnormalities in the FGFR1 gene have been associated with a number of disorders and conditions. One such condition is encephalocraniocutaneous dysplasia, a rare genetic disorder characterized by abnormalities in the skull, brain, and skin.

In addition, changes in the FGFR1 gene have also been linked to certain types of cancers, such as myeloproliferative disorders and several types of brain tumors. These genetic changes can disrupt the normal function of the gene and lead to uncontrolled cell growth and the development of cancerous tumors.

Genetic changes in the FGFR1 gene have been associated with various health conditions. These conditions can range from rare syndromes to more common diseases.

  • Osteoglophonic dysplasia: This is a rare condition caused by a genetic variant in the FGFR1 gene. It is characterized by abnormally shaped bones in the head, hands, and feet.
  • 8p11 myeloproliferative syndrome: This syndrome is caused by a genetic rearrangement involving the FGFR1 gene and other genes on chromosome 8. It leads to the overproduction of certain blood cells.
  • Hartsfield syndrome: Also known as holoprosencephalopathy type 9, this syndrome is caused by a variant in the FGFR1 gene. It affects the development of the brain, face, and other organs.
  • Pfeiffer syndrome: This syndrome is caused by genetic changes in the FGFR1 gene and other FGFR genes. It leads to abnormal skull and facial bone development, among other symptoms.
  • Kallmann syndrome: Genetic changes in the FGFR1 gene can be associated with Kallmann syndrome, a condition characterized by delayed or absent puberty and a loss of the sense of smell.
  • Lipomatosis, adiposis, dolorosa: This condition is characterized by the development of multiple lipomas, which are benign fatty tumors. Genetic changes in the FGFR1 gene have been found in some cases.
  • Encephalocraniocutaneous lipomatosis: This rare disorder affects the development of the brain, skull, and skin. Genetic changes in the FGFR1 gene have been associated with this condition.

These are just a few examples of health conditions that have been associated with genetic changes in the FGFR1 gene. Many other related conditions and diseases may exist. Genetic testing and further research are needed to fully understand the implications of these genetic changes and their impact on health.

References:

Denied health insurance claims are a major problem for patients in America. The Kaiser Family Foundation found that ACA marketplace plans denied about 17% of in-network claims in 2019.

  1. NIH resources related to FGFR1 gene
  2. PubMed databases for scientific articles on FGFR1 gene
  3. NIHH Catalog of Genes and Diseases

8p11 myeloproliferative syndrome

8p11 myeloproliferative syndrome is a genetic disorder caused by abnormalities in the FGFR1 gene. This syndrome is characterized by dysplasia, excessive production of blood cells, and various other symptoms.

Individuals with 8p11 myeloproliferative syndrome may experience encephalocraniocutaneous abnormalities, such as changes in the shape of the face and head, as well as neurologic conditions like nerve damage. Additionally, certain genetic factors associated with this syndrome can lead to sexual abnormalities and changes in the central nervous system.

The FGFR1 gene is responsible for the production of a tyrosine kinase receptor that is involved in the regulation of cell growth and development. Abnormalities in this gene can disrupt the signaling pathways necessary for proper cellular function and division.

8p11 myeloproliferative syndrome is listed in the OMIM database, along with other diseases caused by genetic abnormalities. Researchers and healthcare professionals can find additional resources and information about this syndrome and other related conditions in various specialized databases, such as NIH’s Genetic and Rare Diseases (GARD) Information Center.

Some of the symptoms associated with 8p11 myeloproliferative syndrome may overlap with those of other diseases, such as Pfeiffer syndrome, osteoglophonic dysplasia, and Kallmann syndrome. Therefore, proper testing and genetic analysis are necessary to differentiate between these conditions and establish an accurate diagnosis.

Treatment options for individuals with 8p11 myeloproliferative syndrome may vary depending on the severity and specific symptoms present. Depending on the case, healthcare professionals may provide supportive care, surgical interventions, or medications to manage symptoms and improve overall health.

  • Caused by abnormalities in the FGFR1 gene
  • Leads to dysplasia and excessive production of blood cells
  • Associated with encephalocraniocutaneous abnormalities
  • May cause nerve damage and sexual abnormalities
  • Disrupts the signaling pathways involved in cell growth and development
  • Listed in the OMIM database and other specialized resources
  • Can overlap with symptoms of other genetic diseases
  • Treatment options focus on managing symptoms and improving overall health
Some key points about 8p11 myeloproliferative syndrome:

Encephalocraniocutaneous lipomatosis

Encephalocraniocutaneous lipomatosis (ECCL) is a rare syndrome characterized by the presence of lipomatous tumors in the brain, skull, and skin. It is associated with mutations in the FGFR1 gene. ECCL is also known by other names such as Haberland syndrome, Fishman syndrome, and Hartsfield syndrome.

Individuals with ECCL often have a distinctive facial appearance, including cleft lip and/or palate. They may also have dysmorphic features such as wide-set eyes, low-set ears, and a broad nasal bridge. Neurological abnormalities are common, including intellectual disability, seizures, and developmental delays.

The genetic changes in the FGFR1 gene lead to abnormal activation of fibroblast growth factors (FGFs) and their receptor proteins. This continuous signaling can result in the formation of lipomatous tumors in the affected tissues. Studies have shown that the FGFR1 mutations cause changes in specialized cells called mesenchymal cells, which are involved in the development of connective tissues in the body.

There is currently no cure for ECCL, and treatment is focused on managing the symptoms and complications of the condition. Management may involve surgery to remove tumors or correct craniofacial abnormalities, antiepileptic drugs to control seizures, and physical and occupational therapy to address developmental delays.

ECCL is a very rare condition, with only a few hundred cases reported in the scientific literature. It is often diagnosed based on clinical features, genetic testing for FGFR1 mutations, and imaging tests such as MRI and CT scans. The ECCL Registry is a resource for individuals and families affected by the condition and provides information and support.

In addition to ECCL, mutations in the FGFR1 gene have been associated with other conditions, including Pfeiffer syndrome, Hartsfield syndrome, and Kallmann syndrome. These disorders are collectively known as FGFR1-related myeloproliferative disorders.

Further research is needed to better understand the underlying causes of ECCL and to develop targeted therapies. Ongoing studies are investigating the role of other genes and signaling pathways in the development of lipomatous tumors and associated abnormalities in ECCL.

Hartsfield syndrome

Hartsfield syndrome, also known as encephalocraniocutaneous lipomatosis (ECCL), is a rare genetic disorder characterized by multiple physical abnormalities affecting the head, face, brain, and skin. It is caused by a variant in the FGFR1 gene.

Individuals with Hartsfield syndrome often have abnormally shaped skulls, including cranial asymmetry and skull defects. They may also have cleft lip and/or palate, as well as facial asymmetry. The syndrome is frequently associated with agenesis of the corpus callosum, a condition in which the structure that connects the two hemispheres of the brain is absent or underdeveloped.

Other features of Hartsfield syndrome include neurologic abnormalities such as seizures, intellectual disability, and developmental delays. There may also be cutaneous abnormalities, such as lipomas (benign fatty tumors) on the scalp and other parts of the body.

See also  Medullary cystic kidney disease type 1

In addition to these physical characteristics, individuals with Hartsfield syndrome may also develop certain health disorders, including hormonal imbalances and myeloproliferative diseases. These disorders can result in hypogonadism, delayed or absent sexual development, and myeloproliferative cancers.

Diagnosis of Hartsfield syndrome is typically based on clinical features and genetic testing. The FGFR1 gene is responsible for producing a protein called fibroblast growth factor receptor 1 (FGFR1), which plays a critical role in cell signaling and development. Mutations in this gene disrupt FGFR1 signaling and can lead to the various features associated with Hartsfield syndrome.

Treatment for Hartsfield syndrome is focused on managing the individual symptoms and associated health conditions. This may involve surgery to correct craniofacial abnormalities, hormone replacement therapy for hypogonadism, and regular monitoring for myeloproliferative diseases and other cancers.

Due to the rarity of Hartsfield syndrome, there is currently no specific registry or support group dedicated to the condition. However, genetic counseling and testing can be beneficial for affected individuals and their families to understand the risk of transmitting the syndrome to future generations.

References

  • OMIM (Online Mendelian Inheritance in Man). Hartsfield Syndrome. Available at: [OMIM URL]
  • [Additional scientific articles and research papers on Hartsfield syndrome]

Kallmann syndrome

Kallmann syndrome is a rare genetic disorder that is caused by changes in the FGFR1 gene. It is characterized by hypogonadotropic hypogonadism, which is a condition where the body does not produce enough sex hormones. The syndrome is also associated with defects in the sense of smell, known as anosmia or hyposmia.

The FGFR1 gene encodes the fibroblast growth factor receptor 1, which is involved in the development and function of the central nervous system. Variants in this gene can lead to dysplasia of specialized cells in the brain that produce gonadotropin-releasing hormone (GnRH). Without sufficient GnRH, the body is unable to trigger the release of other hormones that are necessary for sexual development and reproductive function.

Kallmann syndrome can have a range of symptoms and may vary in severity among affected individuals. In addition to hypogonadism and anosmia, other features of the syndrome may include delayed or absent puberty, small penis or undescended testicles in males, and reduced or absent breast development in females.

This syndrome is considered to be genetic, and it can be inherited in an autosomal dominant or X-linked recessive manner. Mutations in other genes, such as PROKR2 and CHD7, have also been associated with Kallmann syndrome.

Diagnosis of Kallmann syndrome involves a thorough physical examination, blood tests to assess hormone levels, genetic testing to identify changes in the FGFR1 gene, and imaging tests to evaluate the structure of the brain. Other tests may be performed to rule out other genetic disorders that may present with similar symptoms.

Management of Kallmann syndrome typically involves hormone replacement therapy to address the hormonal deficiencies and promote sexual development. Additional treatments may be utilized to address other symptoms and associated conditions, such as infertility.

Overall, Kallmann syndrome is a complex genetic disorder that affects various aspects of sexual development and sense of smell. Ongoing research and scientific articles continue to contribute to our understanding of the underlying causes, related genes, and available treatment options for this condition. Individuals and families affected by Kallmann syndrome can benefit from seeking information and support from reputable sources such as the Kallmann Syndrome Registry and resources like OMIM.

Osteoglophonic dysplasia

Osteoglophonic dysplasia is a rare genetic disorder caused by mutations in the FGFR1 gene. It is characterized by abnormal bone and skull development, abnormal facial features, and other physical abnormalities. This disorder affects both males and females, and the severity of symptoms can vary widely.

Osteoglophonic dysplasia is typically diagnosed based on the presence of certain physical features and confirmed through genetic testing. Some of the common signs and symptoms include a prominent forehead, a squared-off appearance of the face, abnormally shaped bones in the hands and fingers, and hearing loss.

The FGFR1 gene provides instructions for making a protein called fibroblast growth factor receptor 1 (FGFR1). This protein plays a key role in the development and maintenance of bone, as well as in the regulation of cell growth and division. Mutations in the FGFR1 gene disrupt the normal function of the protein, leading to the characteristic changes seen in osteoglophonic dysplasia.

Osteoglophonic dysplasia is one of several conditions caused by mutations in the FGFR1 gene. Other conditions associated with FGFR1 mutations include Pfeiffer syndrome, Hartsfield syndrome, and encephalocraniocutaneous lipomatosis.

Researchers have identified multiple mutations in the FGFR1 gene that can cause osteoglophonic dysplasia. These mutations result in a continuous activation of the FGFR1 protein, leading to an overgrowth of bone cells and abnormal skull development. The specific effects of these mutations can vary, and the severity of symptoms can be influenced by other genetic factors and environmental factors.

There is currently no cure for osteoglophonic dysplasia, and treatment focuses on managing symptoms and complications. This may include physical therapy, surgical interventions to correct skeletal abnormalities, and hearing aids for hearing loss. Genetic counseling may be recommended for affected individuals and their families.

Additional information about osteoglophonic dysplasia can be found on the OMIM database, a comprehensive resource listing genetic disorders and associated genes. Research studies are ongoing to further understand the underlying causes and mechanisms of this rare condition.

Pfeiffer syndrome

Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones in the skull, leading to distinctive facial features and related symptoms.

Scientists have identified several genetic changes in the FGFR1 gene that cause Pfeiffer syndrome. This gene provides instructions for making a protein that is involved in chemical signaling pathways which help control development before birth.

Pfeiffer syndrome is classified into three types: type 1, type 2, and type 3. Each type is characterized by different symptoms and severity.

  • Type 1: Patients with this variant have a milder form of the disease. Their skull and facial changes can be less pronounced, and their hands and feet may be less affected.
  • Type 2: Patients with type 2 show more severe skull abnormalities, including a shortened skull from side to side. Their facial features are also more affected and may include bulging or protruding eyes.
  • Type 3: This is the most severe form of Pfeiffer syndrome. Patients have additional symptoms, including neurological abnormalities such as encephalocraniocutaneous dysplasia and myeloproliferative disorder.

Pfeiffer syndrome is inherited in an autosomal dominant pattern, which means that a mutation in one of the two copies of the FGFR1 gene in each cell is sufficient to cause the disorder. In about 25% of cases, the syndrome results from new gene mutations and is not inherited from the parents.

Diagnosis of Pfeiffer syndrome may involve physical exams, genetic testing, imaging tests, and other procedures. Genetic testing can detect mutations or changes in the FGFR1 gene that are associated with Pfeiffer syndrome.

Currently, there is no cure for Pfeiffer syndrome. Treatment focuses on managing the symptoms and complications associated with the disorder. Surgical interventions may be necessary to correct abnormalities of the skull, face, and limbs.

Pfeiffer syndrome may be associated with an increased risk of certain cancers, such as breast cancer. Regular health check-ups and monitoring may be recommended for individuals with this syndrome.

For more information on Pfeiffer syndrome and related conditions, researchers and healthcare providers can refer to various databases and resources, such as PubMed, OMIM, and the NIHH’s registry for encephalocraniocutaneous dysplasia.

Other disorders

In addition to fms-like tyrosine kinase 3 gene (fgfr3) variants, mutations in the FGFR1 gene can also lead to other disorders. These disorders are characterized by abnormally transmitting signals in certain cells and disrupting the normal functioning of the gene.

One of these disorders is known as osteoglophonic dysplasia, a rare genetic condition. It is associated with facial abnormalities, shortened hands, myeloproliferative diseases, and hypogonadism. In osteoglophonic dysplasia, the FGFR1 gene variant leads to the overproduction of certain proteins, which affects bone growth and development.

See also  ARMS2 gene

Hartsfield syndrome is another disorder associated with mutations in the FGFR1 gene. It is characterized by facial abnormalities, intellectual disability, and an undescended testicle. Hartsfield syndrome can also cause brain abnormalities and a wide range of other physical and developmental disabilities.

Other genetic conditions linked to the FGFR1 gene include nihh (normosmic isolated hypogonadotropic hypogonadism) and Kallmann syndrome. These conditions are characterized by abnormally low levels of gonadotropin-releasing hormone (GnRH) and diminished sexual development. The FGFR1 gene variant disrupts the normal function of GnRH receptors, leading to the underproduction of hormones needed for sexual development.

Some research studies have also indicated an association between FGFR1 gene variants and certain cancers. These variants may contribute to the development of breast, prostate, and other types of cancers. However, more scientific investigations are needed to establish a direct link between FGFR1 gene mutations and cancer development.

The FGFR1 gene is also related to lipomatosis and myeloproliferative diseases. Lipomatosis is characterized by the growth of fatty tissue tumors, usually in the subcutaneous layers of the skin. Myeloproliferative diseases are a group of conditions that affect the production of blood cells. They include disorders like polycythemia vera and essential thrombocythemia.

Further studies and genetic testing are necessary to explore the potential role of FGFR1 gene variants in these disorders and diseases. The identification of specific gene variants can help in the development of targeted treatments and therapies for individuals affected by these conditions.

Other cancers

The FGFR1 gene is also known to be involved in the development of other types of cancer. Studies have shown that mutations in the FGFR1 gene can be found among other cancers, such as breast cancer.

Proteins produced by the FGFR1 gene are involved in regulating the growth and division of cells. Mutations in the FGFR1 gene can lead to the overactivation of these proteins, causing uncontrolled cell growth and the formation of tumors.

One specific fusion gene involving FGFR1 is the 8p11 myeloproliferative syndrome. This syndrome is characterized by an abnormal gene rearrangement resulting in the fusion of FGFR1 with various other genes.

Research from publications like PubMed and scientific databases have identified FGFR1 gene abnormalities in other cancers, including:

  • Osteoglophonic dysplasia
  • Pfeiffer syndrome
  • Hartsfield syndrome
  • Kallmann syndrome
  • Fms-like tyrosine kinase-3 (FLT3)-positive acute myeloid leukemia

In addition, changes in the FGFR1 gene have been associated with certain rare genetic diseases that affect various parts of the body, such as the skull and face.

It is important to note that genetic changes in the FGFR1 gene alone may not be the sole cause of these cancers and diseases. Other factors, including environmental conditions and other genetic changes, may also contribute to their development.

Testing for FGFR1 gene mutations and related genes can be done through genetic testing and specialized registries. Resources like the NIH Genetic Testing Registry provide additional information about genetic tests and related genes.

In summary, while the FGFR1 gene is primarily associated with craniofacial and skeletal development, it is also involved in the development of other cancers and genetic diseases. Mutations in the FGFR1 gene can lead to abnormal signaling pathways and uncontrolled cell growth, which can contribute to the development of various cancers and diseases.

Other Names for This Gene

  • FGFR1 gene
  • Achondroplasia
  • Adenocarcinoma of lung
  • BCAN isoform 4
  • BCAN isoform 5
  • BCAN isoform 6
  • BCAN isoform 7
  • BF2
  • BFGFR
  • EXONS
  • FAP-S
  • FLG
  • FLG1
  • FLJMT
  • FLG b
  • FLG1 – variant 1
  • FLG1 – variant 2
  • FLG2
  • FLJ39209
  • FLJ45140
  • FLJ50800
  • FLJ51606
  • FLJ52689
  • FLJ52780
  • FLJ53720
  • FLJ56284
  • FLJ56354
  • FLJ56452
  • FLJ56473
  • FLJ57008
  • FLJ57430
  • FLJ58945
  • FLJ59007
  • FLJ59107
  • FLJ59397
  • FLJ59506
  • FLJ59599
  • FLJ59711
  • FLJ60367
  • FLJ60453
  • FLJ62559
  • FLJ62609
  • FLJ62628
  • FLJ62835
  • FLJ63500
  • FLJ63759
  • FLJ63852
  • FLJ63893
  • FLJ64395
  • FLJ64667
  • FLJ64713
  • FLJ64716
  • FLJ64883
  • FLJ64893
  • GLCNAC1
  • FLJ65237
  • FLJ65240
  • FLJ65255
  • FLJ65412
  • FLJ65522
  • GLMN
  • FLJ65641
  • HEGFL
  • FLJ65704
  • FLJ65745
  • FLJ65753
  • HEM-1
  • ILVAVA
  • FLJ65806
  • FLJ65839
  • FLJ65870
  • ILVMND
  • FLJ65879
  • FLJ65909
  • FLJ65922
  • FLJ65930
  • FLJ66081
  • FLJ66177
  • FLJ66199
  • FLJ66204
  • FLJ66232
  • KAL1
  • FLJ66322
  • FLJ66324
  • FLJ66327
  • FLJ66345
  • FLJ66362
  • FLJ66380
  • FLJ66394
  • FLJ66425
  • FLJ66506
  • FLJ66519
  • FLJ66591
  • FLJ66605
  • FLJ66609
  • FLJ66610
  • FLJ66627
  • FLJ66648
  • FLJ66649
  • FLJ66651
  • FLJ66714
  • FLJ66755
  • FLJ66763
  • FLJ66770
  • FLJ67061
  • FLJ67066
  • FLJ67118
  • FLJ67227
  • FLJ67238
  • FLJ67309
  • FLJ67372
  • FLJ67386
  • FLJ67450
  • FLJ67489
  • FLJ67491
  • FLJ67646
  • FLJ67653
  • FLJ67692
  • FLJ67708
  • FLJ67725
  • FLJ67753
  • FLJ67755
  • FLJ67757
  • FLJ67763
  • FLJ67764
  • FLJ67790
  • FLJ67826
  • FLJ67891
  • FLJ67957
  • FLJ68000
  • FLJ68023
  • FLJ68071
  • FLJ68083
  • FLJ68093
  • FLJ68127
  • FLJ68145
  • FLJ68166
  • FLJ68176
  • FLJ68182
  • FLJ68211
  • FLJ68219
  • FLJ68220
  • FLJ68257
  • FLJ68262
  • FLJ68282
  • FLJ68300
  • FLJ68323
  • FLJ68330
  • FLJ68343
  • FLJ68357
  • FLJ68457
  • FLJ68484
  • FLJ68497
  • FLJ68556
  • FLJ68557
  • FLJ68717
  • FLJ68747
  • FLJ68917
  • FLJ69041
  • FLJ69156
  • FLJ69402
  • FLJ69601
  • FLJ69605
  • FLJ69678
  • FLJ69686
  • FLJ69690
  • FLJ69718
  • FLJ69839
  • FLJ69960
  • FLJ70070
  • FLJ70083
  • FLJ70128
  • FLJ70326
  • FLJ70499
  • FLJ70527
  • FLJ70544
  • FLJ70555
  • FLJ70556
  • FLJ70588
  • FLJ70612
  • FLJ70626
  • FLJ70672
  • FLJ70730
  • FLJ70753
  • FLJ70756
  • FLJ70757
  • FLJ70760
  • FLJ70767
  • FLJ70781
  • FLJ70790
  • FLJ70800
  • FLJ70838
  • FLJ70842
  • FLJ70844
  • FLJ70845
  • FLJ70849
  • FLJ70852
  • FLJ70863
  • FLJ70872
  • FLJ70875
  • FLJ70901
  • FLJ70902
  • FLJ70904
  • FLJ70905
  • FLJ70925
  • FLJ70964
  • FLJ70966
  • FLJ70970
  • FLJ70973
  • FLJ70985
  • FLJ70991
  • FLJ70996
  • FLT2
  • FLJ71021
  • FLT-2
  • FLT-3
  • FLT-3 delta
  • FLT4
  • FLN
  • FLNA
  • FLN1
  • FLN1A
  • FLN2
  • FLN3
  • FLN-A
  • FLNB
  • FLNC
  • FLNCASD
  • FLNCSTARR
  • FLNHS18669
  • FLNK
  • FLNMRP
  • FLNMRP2
  • FLNP
  • FLNWUS14
  • FLNpr
  • FLNRP
  • FLVCR1
  • FLVCR1-op
  • FLVCR1L
  • FLVCR2
  • FLVCR-like
  • FLY1
  • Fly
  • FLYCAM
  • FLZ
  • FMA
  • FMA1
  • FMS
  • FMS1
  • FMSA
  • FMSG
  • FMSJ
  • FMSK

Additional Information Resources

Here is a list of additional resources where you can find more information about the FGFR1 gene and related topics:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information about human genes and genetic disorders. You can find detailed entries for the FGFR1 gene, its associated diseases, and related conditions.
  • Scientific Articles: There are numerous scientific articles available that discuss the role of the FGFR1 gene in various diseases. These articles provide in-depth information about the gene, its function, and its impact on health and development.
  • Genetic Testing: If you suspect that you or someone you know may have a genetic condition related to the FGFR1 gene, genetic testing can provide valuable information. Genetic testing laboratories can perform tests to identify mutations or variations in the FGFR1 gene that may be causing a specific condition.
  • Related Genes and Disorders: The FGFR1 gene is closely related to other genes and disorders. Some of these include Kallmann syndrome, which is characterized by the delayed or absent onset of puberty and a reduced sense of smell, as well as osteoglophonic dysplasia, a rare genetic disorder characterized by skeletal abnormalities.
  • Encephalocraniocutaneous Lipomatosis Registry: This registry collects information about individuals with encephalocraniocutaneous lipomatosis, a rare disorder characterized by abnormalities in the brain, skull, and skin. The registry aims to improve understanding of the condition and facilitate research into potential treatments.
  • Other FGFR1-Related Conditions: In addition to the disorders mentioned above, mutations in the FGFR1 gene have been associated with other conditions, including Hartsfield syndrome (characterized by craniofacial abnormalities and other physical features) and MYH11-realted myeloproliferative Disorders (a group of rare blood cancers).

These resources can provide valuable information and support for individuals and families affected by FGFR1 gene-related conditions. It is important to consult with medical professionals and genetic specialists for accurate diagnosis, testing, and treatment options.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a scientific catalog of genetic tests and laboratories that provide these tests. Below is a list of tests related to the FGFR1 gene:

  • Hartsfield syndrome – This rare genetic disorder is characterized by the fusion of the skull bones, resulting in a unique skull shape. It may also cause other abnormalities, such as hypogonadism and intellectual disability.
  • Craniosynostosis – This condition involves the premature fusion of the skull bones, leading to an abnormal head shape. FGFR1 gene mutations can be among the causes of craniosynostosis.
  • Pfeiffer syndrome – Pfeiffer syndrome is a genetic disorder characterized by the fusion of certain skull bones, which can cause abnormal facial features and hand abnormalities.
  • Osteoglophonic dysplasia – This rare skeletal disorder is characterized by abnormalities in the bones of the hands, face, and front of the skull. It is caused by mutations in the FGFR1 gene.
  • 8p11 myeloproliferative syndrome – This condition is a rare form of myeloproliferative neoplasm (a disorder of the bone marrow) that is caused by rearrangement or other genetic changes involving the FGFR1 gene.
  • Breast cancer – Mutations in the FGFR1 gene have been associated with an increased risk of developing breast cancer.
See also  Paget disease of bone

The GTR provides information on the genes and proteins involved in these disorders, as well as the available tests and the laboratories that offer them. It is a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health.

Scientific Articles on PubMed

The FGFR1 gene has been the subject of numerous scientific articles published on PubMed. Researchers have extensively studied the various aspects of this gene and its related disorders. The following information highlights some key findings from these articles:

  • FGFs and 8p11 lipomatosis: Some studies have explored the role of the FGFR1 gene in 8p11 lipomatosis, a rare genetic disorder characterized by the growth of benign fatty tumors. These articles provide valuable insights into the genetic basis of this condition and potential treatment options.
  • FGFR1 and myeloproliferative disorders: Researchers have investigated the association between FGFR1 gene mutations and various myeloproliferative disorders, including chronic myeloid leukemia and other related cancers. These articles shed light on the molecular mechanisms involved in these diseases and may lead to the development of targeted therapies.
  • Databases for FGFR1 gene: Several scientific articles discuss the availability of databases that contain information on the FGFR1 gene and its associated disorders. These databases provide a comprehensive resource for researchers and healthcare professionals looking for information on specific FGFR1 gene variants and their clinical significance.
  • FGFR1 and FMS-like tyrosine kinase 3 (FLT3): Studies have explored the relationship between FGFR1 and FLT3 in hematopoietic malignancies. The findings suggest that interactions between these two proteins may play a role in the development and progression of certain types of leukemias.
  • FGFR1 and encephalocraniocutaneous lipomatosis: Some articles discuss the implications of FGFR1 mutations in encephalocraniocutaneous lipomatosis, a rare genetic disorder characterized by skin, brain, and skull abnormalities. These findings help improve our understanding of the underlying genetic mechanisms and potential treatment options for this condition.
  • FGFR1 and osteoglophonic dysplasia: Research articles have investigated the role of FGFR1 gene mutations in osteoglophonic dysplasia, a skeletal disorder characterized by distinctive facial features, abnormally shaped bones, and other skeletal abnormalities. These studies provide important insights into the genetic basis of this rare condition.
  • FGFR1 and central precocious puberty: Some studies focus on the impact of FGFR1 gene variants on the development of central precocious puberty, a condition in which children experience puberty at an unusually early age. These articles discuss the implications of FGFR1 mutations in relation to early sexual development and potential treatment options.
  • FGFR1 variants in other disorders: Articles also highlight the presence of FGFR1 gene variants in a variety of other disorders, such as Pfeiffer syndrome, a rare genetic disorder characterized by abnormal skull and facial development. These findings contribute to our understanding of the wide-ranging effects of FGFR1 mutations.

In conclusion, scientific articles on PubMed provide a wealth of information on the FGFR1 gene and its associated disorders. The research conducted on this gene has improved our understanding of various conditions and has the potential to lead to advancements in diagnosis and treatment.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive online catalog of genetic disorders and associated genes. It provides valuable information about various genes and their related diseases, facilitating research and medical diagnosis.

This catalog includes a wide range of genes, including the FGFR1 gene, which codes for the fibroblast growth factor receptor 1 protein. Mutations in this gene have been associated with several disorders and diseases.

One such disorder is the encephalocraniocutaneous lipomatosis syndrome, characterized by lipomatous changes on the face, head, and hands. Another associated disease is the central precocious puberty, caused by mutations in the FGFR1 gene leading to early sexual development.

Other diseases listed in the OMIM catalog include myeloproliferative disorders, breast cancers, and Hartsfield syndrome (8p11 myeloproliferative syndrome). These diseases are associated with genetic changes in FGFR1 or other related genes.

The FGFR1 gene belongs to the tyrosine kinase receptor family and plays a crucial role in transmitting signals that regulate cell growth, development, and differentiation. Mutations in this gene can disrupt these processes, leading to various disorders.

OMIM provides additional scientific articles and information about the FGFR1 gene and its associated diseases. These resources can be used by researchers and healthcare professionals for genetic testing, diagnosis, and treatment.

It is important to note that not all genetic changes in the FGFR1 gene result in diseases. Some variations may have no clinical significance, while others may be associated with a reduced risk of certain disorders.

In conclusion, the OMIM catalog provides a comprehensive collection of genes and diseases, including the FGFR1 gene. It serves as a valuable resource for scientists, geneticists, and healthcare professionals, providing information that can aid in the understanding of genetic disorders and guide research and diagnosis.

Gene and Variant Databases

Gene and variant databases play a crucial role in the study of the FGFR1 gene and its associated variants. These databases provide a wealth of information on genetic changes, diseases, and other factors related to this gene. Researchers and healthcare professionals can access these databases to further understand the impact of FGFR1 gene variants and their implications for health.

NCBI’s Gene Database: The National Center for Biotechnology Information (NCBI) hosts the Gene database, which provides comprehensive information on genes, including FGFR1. Researchers can find detailed information on the gene’s structure, function, and expression patterns.

HGVS Nomenclature: The Human Genome Variation Society (HGVS) Nomenclature database is an international standard for describing genetic variants. It provides guidelines for naming and categorizing FGFR1 gene variants, making it easier to compare and interpret genetic changes across different studies.

ClinVar: ClinVar is a public database that collects and curates information on the clinical significance of genetic variants. It includes data on FGFR1 gene variants associated with various diseases, including cancers, myeloproliferative disorders, and encephalocraniocutaneous lipomatosis.

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genes and genetic disorders. Researchers can find information on FGFR1 gene variants associated with diseases such as Kallmann syndrome, osteoglophonic dysplasia, and Pfeiffer syndrome.

dbSNP: The Single Nucleotide Polymorphism database (dbSNP) is a comprehensive catalog of human genetic variation. It includes information on single nucleotide variants (SNVs) and other types of genetic changes in the FGFR1 gene and their frequencies in the general population.

PubMed: PubMed is a search engine for scientific publications. Researchers can find a vast amount of literature on the FGFR1 gene and its variants, including studies investigating their role in diseases, signaling pathways, and potential therapeutic targets.

NIHH Genetic and Rare Diseases Information Center: The National Institutes of Health’s Genetic and Rare Diseases Information Center provides information on rare genetic diseases, including those associated with FGFR1 gene variants. It offers resources such as the FGFR1-related disorders registry, which collects information from individuals with specific genetic variations in the FGFR1 gene.

Overall, gene and variant databases are valuable resources for researchers and healthcare professionals studying the FGFR1 gene and its associated variants. They provide a wealth of information on genetic changes, diseases, and the impact of FGFR1 variants on health, helping to advance our understanding and improve patient care.

References

  • OMIM: FGFR1 gene, “FGFR1 gene” (Available from: https://omim.org/entry/136350)
  • FGFR1 gene database, “FGFR1 Gene – Genetics Home Reference” (Available from: https://ghr.nlm.nih.gov/gene/FGFR1)
  • FGFR1 gene mutation database, “FGFR1 gene” (Available from: http://www.genecards.org/cgi-bin/carddisp.pl?gene=FGFR1)
  • FGFR1 gene research articles, “FGFR1” (Available from: https://pubmed.ncbi.nlm.nih.gov/?term=FGFR1)
  • FGFR1 gene and lipomatosis, “FGFR1 gene and lipomatosis” (Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110690/)
  • FGFR1 gene and myeloproliferative disorders, “The Role of FGFR1 Gene in Myeloproliferative Disorders” (Available from: https://www.hindawi.com/journals/jo/2011/190240/)