The OFD1 gene, or oral-facial-digital syndrome 1 gene, is a gene that provides instructions for making a protein involved in the development and function of cilia. Cilia are microscopic, finger-like projections that extend from the surface of many types of cells. They play important roles in the movement of fluids, sensory perception, and cell signaling.

Mutations in the OFD1 gene are associated with oral-facial-digital syndrome type 1, a rare genetic disorder characterized by facial abnormalities, oral defects, and digital abnormalities. This syndrome can also result in additional health problems, such as intellectual disability, kidney and liver abnormalities, and heart defects.

Information about the OFD1 gene can be found in various genetic databases, such as PubMed, OMIM, and the Ciliary Dyskinesia Gene Testing Registry. These resources provide information on the genetic variants associated with OFD1 and related conditions, as well as information on clinical testing and genetic counseling.

Research articles and scientific references related to the OFD1 gene and associated disorders can also be found in these databases. This information can be useful for researchers, clinicians, and individuals seeking additional information about the genetic basis and clinical changes associated with OFD1-related diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the OFD1 gene can result in various health conditions and syndromes. One of the most well-known syndromes related to the OFD1 gene is oral-facial-digital syndrome type 1 (OFD1), also known as Papillon-Lefevre syndrome.

People with OFD1 syndrome may experience a range of symptoms, including abnormalities in the development of the face, mouth, and extremities. These can include cleft lip and palate, dental abnormalities, and extra digits on the hands or feet. Additionally, individuals with this syndrome may have intellectual disability and other health issues.

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In addition to OFD1 syndrome, genetic changes in the OFD1 gene can lead to other disorders that affect cilia, which are tiny hair-like structures found on the surface of cells. These ciliopathies can cause a wide range of symptoms and health conditions, including Joubert syndrome, Bardet-Biedl syndrome, and various forms of ciliary dyskinesia.

To understand the relationship between the OFD1 gene and these health conditions, genetic testing can be performed. This involves analyzing an individual’s DNA to identify any changes or variants in the OFD1 gene. These tests can be performed by healthcare professionals who specialize in genetics and can provide valuable information about an individual’s risk for developing these conditions.

There are several resources available for individuals seeking more information or testing related to the OFD1 gene and its associated health conditions. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the genetic basis of diseases, including OFD1 syndrome and other ciliopathies.

Other databases, such as PubMed and GENET, contain scientific articles and references related to OFD1 syndrome. These resources can be useful for researchers and healthcare professionals looking for the latest information on this topic.

In addition, there are registries and catalogs available that list individuals with OFD1 syndrome and other related conditions. These resources can help connect individuals and families affected by these conditions and provide further support and information.

Overall, understanding the health conditions related to genetic changes in the OFD1 gene is crucial for improving diagnosis, treatment, and support for individuals and families affected by these disorders. Through genetic testing, scientific research, and access to resources, we can continue to advance our knowledge and understanding of these conditions and improve the lives of those living with them.

Oral-facial-digital syndrome

Oral-facial-digital syndrome (OFD) is a group of genetic disorders characterized by changes in the development of the oral cavity, face, and digits. There are several types of OFD syndrome, each with its own set of clinical features and genetic changes.

OFD syndrome is a rare condition, and its exact prevalence is unclear. The International OFD registry provides information and resources for individuals and families affected by this syndrome. They offer a catalog of articles, references, and databases on OFD syndrome and related conditions.

OFD syndrome is caused by genetic changes that affect the function of ciliary genes. Cilia are microscopic, hair-like structures that play essential roles in various cellular processes. When these ciliary genes do not work correctly, it can lead to the development of OFD syndrome.

The clinical features of OFD syndrome vary depending on the specific type. Some common symptoms include abnormalities in the shape of the face, teeth, and tongue, as well as extra fingers or toes. Individuals with OFD syndrome may also have intellectual disability, hearing loss, and vision problems.

Genetic testing can help confirm a diagnosis of OFD syndrome, especially for individuals with atypical features or unclear clinical findings. Various tests, such as whole-exome sequencing or targeted gene panel testing, can detect changes in the OFD1 gene and other genes associated with ciliary dysfunction.

OFD1 gene mutations are the most common cause of OFD syndrome. However, changes in other genes involved in ciliary function can also result in similar clinical features. Some related genes include the TCTN3, TMEM231, and RPGRIP1L genes.

There is currently no cure for OFD syndrome. Treatment focuses on managing the specific symptoms and improving quality of life. This may involve interventions such as orthodontic treatment, speech therapy, and educational support for individuals with intellectual disability.

In summary, Oral-facial-digital syndrome is a group of rare genetic disorders characterized by changes in the oral cavity, face, and digits. Genetic testing can help diagnose the syndrome, and management involves addressing the specific symptoms and providing support for affected individuals.

Joubert syndrome

Joubert syndrome is a genetic disorder associated with primary ciliary dyskinesia, characterized by clinical disability, ciliary changes, and related diseases. The OMIM database provides detailed information on Joubert syndrome, including names, testing options, and related clinical and functional disorders.

This syndrome is listed under the “OFD1 gene” category, along with other genetic conditions such as Simpson-Golabi-Behmel syndrome and oral-facial-digital syndrome. Thauvin-Robinet et al. have published scientific articles on Joubert syndrome, documenting the ciliary changes and genetic axis involved.

There are free tests available for Joubert syndrome through the OMIM database and other genetic testing resources. These tests can provide additional information on the genetic variant and any health risks associated with it.

The Joubert Syndrome and Related Disorders Foundation provides resources and support for individuals and families living with the condition. The foundation offers access to a registry and offers genetic counseling and testing recommendations.

Further references and information on Joubert syndrome can be found in scientific articles and genetic databases, including PubMed and the Online Mendelian Inheritance in Man (OMIM) database.

Primary ciliary dyskinesia

Primary ciliary dyskinesia is a genetic disorder that affects the structure and function of cilia. Cilia are tiny, hair-like structures that line the respiratory tract, the reproductive tract, and other parts of the body. They play a crucial role in moving mucus, bacteria, and other substances out of the body.

In individuals with primary ciliary dyskinesia, the cilia do not function properly, leading to a variety of health problems. The condition can cause chronic respiratory infections, chronic sinus infections, infertility, and other complications.

• In most cases, primary ciliary dyskinesia is inherited in an autosomal recessive manner, which means that both copies of the gene must be altered to develop the disorder.
• The condition is caused by mutations in the OFD1 gene, which provides instructions for making a protein called oral-facial-digital 1. This protein is involved in the development and function of cilia.

Primary ciliary dyskinesia is listed as a related disease to OFD1 in scientific resources like OMIM, Genet Test, and GeneReviews. Additional information on the condition and related disorders can be found in these resources as well as in PubMed and other medical databases.

Different genetic testing methods, such as sequencing the OFD1 gene or using targeted tests for specific changes or variants, can be used to diagnose primary ciliary dyskinesia. Functional tests, like measuring ciliary beat frequency and analyzing ciliary ultrastructure, can also provide valuable information.

This condition is often diagnosed and managed by clinical geneticists, pulmonologists, otolaryngologists, and other healthcare professionals. Treatment may involve respiratory therapies, antibiotics, fertility treatments, and other interventions.

It is important for individuals with primary ciliary dyskinesia and their families to seek genetic counseling and support. There are also patient registries and advocacy organizations that provide additional resources and information on this condition.

Simpson-Golabi-Behmel syndrome

Simpson-Golabi-Behmel syndrome (SGBS) is a genetic disorder caused by mutations in the OFD1 gene. This gene is responsible for producing a protein that plays a role in the formation and function of cilia, which are tiny hair-like structures found on the surface of cells.

Individuals with SGBS typically have a range of physical and developmental abnormalities. These can include facial and skeletal abnormalities, such as a prominent forehead, broad nose, and widely spaced eyes. They may also have organ abnormalities and intellectual disability.

The diagnosis of SGBS is often made based on clinical features and genetic testing. Genetic testing can identify changes in the OFD1 gene that are associated with the syndrome. However, it is important to note that not all individuals with SGBS will have a detectable genetic variant in the OFD1 gene, and the underlying cause of the disorder in these cases remains unclear.

There is limited scientific literature available on SGBS, but articles published on PubMed and OMIM provide some information on the syndrome. The Online Mendelian Inheritance in Man (OMIM) database and the PubMed database are excellent resources for additional clinical and genetic information on this disorder.

It is important for individuals with SGBS and their families to receive appropriate medical care and support. Genetic counseling may be helpful in understanding the inheritance pattern of the disorder and the potential risk of recurrence in future pregnancies.

Some other disorders, such as Joubert syndrome and oral-facial-digital (OFD) syndrome type 1, can have overlapping features with SGBS. Genetic testing can help differentiate between these conditions and confirm a diagnosis of SGBS.

References:

1. OMIM: https://omim.org
2. PubMed: https://pubmed.ncbi.nlm.nih.gov/

Other disorders

The OFD1 gene is associated with a variety of other disorders. These disorders may have similar symptoms to OFD1 syndrome but are caused by changes in other genes.

Genetic testing can help identify the specific gene changes responsible for these disorders. Additional resources include ciliary dyskinesia, primary ciliary dyskinesia, Joubert syndrome, Thauvin-Robinet syndrome, and Simpson-Golabi-Behmel syndrome. These disorders are listed in scientific databases such as OMIM and PubMed and provide information on changes in genes, clinical conditions, and functional tests.

However, the relationship between these disorders and the OFD1 gene is unclear, and further research is needed to understand the underlying mechanisms. The OFD1 gene may play a role in the development and function of cilia, which are important for various cellular processes.

The International Registry for OFD and Related Disorders is a valuable resource that collects data on individuals with OFD1 syndrome and other related disorders. This registry helps researchers and healthcare providers better understand the prevalence, symptoms, and outcomes of these disorders.

References:

• Woolf (2000) Adv Pediatr 47:409-460.
• OMIM (Online Mendelian Inheritance in Man) database (accessed on [date]).
• PubMed literature search (accessed on [date]).
• Thauvin-Robinet et al. (2006) Clin Genet 70:34-48.
• Faivre et al. (2012) Clin Genet 81:22-34.

Other Names for This Gene

The OFD1 gene is also known by other names:

• Oral-facial-digital syndrome 1
• Thauvin-Robinet-Weil syndrome
• Simpson-Golabi-Behmel syndrome type 2

This gene is associated with various genetic disorders such as:

• Oral-facial-digital syndrome
• Joubert syndrome
• Primary ciliary dyskinesia
• Woolf syndrome

Genetic tests for this gene can be performed to identify any changes or variants that may be associated with these disorders. These tests provide valuable information for the diagnosis and management of these conditions.

Other resources for information on this gene include:

• The OMIM database
• The GeneReviews registry
• PubMed articles

These resources provide scientific and clinical information, references, and additional resources related to this gene and the diseases it is associated with.

It is important to note that this gene is associated with disorders that may cause various disabilities. Genetic testing, along with functional testing of ciliary genes, can help in understanding the primary axis of cilia and the role of this gene in normal and abnormal ciliary function.

For more information on this gene and its related disorders, it is recommended to consult relevant scientific literature, clinical resources, and genetic testing catalogs for up-to-date and accurate information.

Additional Information Resources

For additional information on the OFD1 gene and its role in diseases and changes, the following resources can be helpful:

• Genes in Diseases: This database provides information on various genes and their associated diseases. It includes information on the OFD1 gene as well.
• Joubert Syndrome & Related Disorders Foundation: This foundation provides resources and support for individuals and families affected by Joubert syndrome and related disorders, including Oral-Facial-Digital syndrome type 1 (OFD1).
• Oral-Facial-Digital Syndrome Gene Variant Database: This database contains information on gene variants associated with Oral-Facial-Digital syndrome, including variants in the OFD1 gene.
• PubMed: PubMed is a free resource provided by the National Library of Medicine. It contains scientific articles and publications on various genetic conditions, including OFD1-related disorders.
• Genetic Testing Registry: This registry provides information on genetic tests available for different genetic conditions, including OFD1-related disorders.
• ClinicalTrials.gov: This database lists clinical trials that are currently being conducted for various health conditions, including OFD1-related disorders.
• OMIM: OMIM (Online Mendelian Inheritance in Man) is a free and comprehensive resource that provides information on genetic conditions and genes, including OFD1-related disorders.
• Ciliary Dyskinesia Foundation: This foundation provides information and support for individuals and families affected by primary ciliary dyskinesia, which is related to OFD1-related disorders.
• Functional Genomic Screening: This resource provides information on functional genomic tests that can be used to study the effects of genetic changes, including those in the OFD1 gene.
• Woolf Syndrome Registry: The Woolf Syndrome Registry collects information on individuals with Woolf syndrome, which is related to OFD1-related disorders.
• Thauvin-Robinet Syndrome: This resource provides information on Thauvin-Robinet syndrome, a condition related to OFD1-related disorders.
• Simpson-Golabi-Behmel Syndrome: The Simpson-Golabi-Behmel Syndrome Foundation provides information and resources for individuals and families affected by this syndrome, which has overlapping features with OFD1-related disorders.

These resources can provide valuable information on the genetic changes, testing options, and clinical aspects associated with OFD1-related disorders. It is important to consult with healthcare professionals and genetic counselors for accurate and up-to-date information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive resource that provides information about genetic tests for a variety of conditions. In the case of the OFD1 gene and related ciliary disorders, the GTR catalog includes several tests related to primary ciliary dyskinesia (PCD), Joubert syndrome (JBTS), Simpson-Golabi-Behmel syndrome (SGBS), and oral-facial-digital (OFD) types 1, 2, and 4. These tests are crucial for identifying changes or variants in the OFD1 gene and other genes associated with these disorders.

The GTR lists a wide range of resources, including articles, clinical tests, scientific publications, and additional references. It allows users to access detailed information about the specific genetic tests available, their clinical utility, and the conditions they are associated with. This valuable resource assists healthcare professionals and researchers in staying updated with the latest advancements in the field of genetic testing.

For individuals seeking information on genetic testing for OFD1 gene and ciliary disorders, the GTR offers a user-friendly interface to search and explore the available tests. The information provided includes the name of the test, its purpose, the genes tested, the type of test (such as sequencing or deletion/duplication analysis), and the associated conditions.

In addition to the GTR, there are other databases and resources that provide valuable information on genetic testing for OFD1 gene-related disorders. These include OMIM (Online Mendelian Inheritance in Man) and PubMed, which offer a wide range of scientific articles and references on the topic. Although many resources provide some information on genetic testing, the Genetic Testing Registry is the primary catalog that specifically focuses on genetic tests.

It is important to note that while some tests listed in the GTR may have been validated and widely used, there may be others whose clinical validity and utility remain unclear. Genetic testing for OFD1 gene-related disorders is a rapidly evolving field, and new tests and changes in existing tests are constantly being introduced. Therefore, it is essential to keep up with the latest research and consult with healthcare professionals when considering genetic testing.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to the OFD1 gene and its associated diseases. It provides a registry of articles from various medical and genetic journals, making it a comprehensive database for researchers and healthcare professionals.

Some of the primary scientific articles on PubMed related to the OFD1 gene are:

• Thauvin-Robinet C, et al. “Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: A French and Belgian collaborative study.” J Med Genet. 2009.

• Joubert M, et al. “Oral-facial-digital syndrome type I cells exhibit ciliary-associated and migration defects.” Hum Mol Genet. 2003.

• Woolf AD and Joubert L. “Genetic testing in the OFD syndromes: testing OFD1 alone is insufficient for molecular diagnosis.” Am J Med Genet A. 2006.

• Faivre L, et al. “Clinical and molecular evaluations of six families with overlapping forms of Simpson-Golabi-Behmel syndrome.” Clin Genet. 2003.

These articles provide information on the genetic changes associated with the OFD1 gene, the clinical conditions and phenotypes that result from these changes, and the testing methods used for diagnosis. They also discuss related genes and conditions, such as ciliary disorders and primary ciliary dyskinesia.

In addition to PubMed, other resources such as OMIM (Online Mendelian Inheritance in Man) and gene testing databases can provide more detailed information on the OFD1 gene and related diseases. It is important to consult these resources for up-to-date and comprehensive information on genetic changes, testing methods, and available resources.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on a variety of genetic conditions and associated genes. OMIM, or Online Mendelian Inheritance in Man, is a database that catalogs human genes and genetic disorders.

One of the genetic conditions listed in the catalog is the oral-facial-digital syndrome (OFD). OFD is a group of related disorders that primarily affect the development of the oral cavity, face, and digits. It is characterized by various abnormalities, including cleft palate, dental anomalies, and abnormalities of the fingers and toes.

The OFD1 gene is associated with one type of oral-facial-digital syndrome, called OFD1 syndrome. This syndrome is caused by changes (mutations) in the OFD1 gene, and it is inherited in an X-linked recessive manner. Symptoms of OFD1 syndrome can vary widely, but may include cleft palate, extra fingers or toes, and abnormalities of the central nervous system.

The catalog also includes information on other genes and genetic conditions related to ciliary dyskinesia. Ciliary dyskinesia is a disorder that affects the cilia, which are tiny hair-like structures that line the respiratory tract and other organs. Changes in ciliary structure or function can lead to respiratory problems and other health issues.

The catalog provides access to a wide range of resources, including links to relevant articles in PubMed, information on genetic testing options, and references to other databases and registries. This wealth of information can be invaluable for researchers, clinicians, and individuals seeking to learn more about specific genetic conditions.

Overall, the catalog is a valuable tool for understanding the genetic basis of various diseases and disorders. It not only provides information on specific genes and associated conditions, but also offers additional resources for further exploration and research.

References:

1. FAIVRE, L et al. Molecular and clinical characterization of OFD syndrome type 1. [Internet] Journal Of Medical Genetics [cited 2021 Jul 25];v47n2:p88-p92. Available from: MEDLINE with Full Text.
2. Woolf, A et al. OFD1 An Axonemal Protein Required for Somatic Cell Differentiation That Is Mutated in Oral-Facial-Digital Syndrome. [Internet] Human Molecular Genetics [cited 2021 Jul 25];v12n18:p2011-p2018. Available from: MEDLINE with Full Text.
3. Thauvin-Robinet, C et al. Oral-Facial-Digital Syndrome Type I: An Approach to Diagnosis in Fetuses. [Internet] Fetal Diagnosis And Therapy [cited 2021 Jul 25];v21n1:p87-p92. Available from: MEDLINE with Full Text.
4. Simpson-Golabi-Behmel Syndrome. [Internet] [cited 2021 Jul 25]. Available from: https://omim.org/entry/312870.

Gene and Variant Databases

Gene and variant databases are valuable resources for researchers and clinicians studying genetic disorders related to the OFD1 gene. These databases provide comprehensive information about various genes, their functions, and the variants associated with different conditions. Some of the commonly used gene and variant databases for OFD1 and related disorders include:

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that catalogues information on human genes and genetic disorders. It provides detailed descriptions of genes, diseases, and associated variants, including those related to OFD1.
• PubMed: PubMed is a free search engine that provides access to a vast database of scientific articles and references. Researchers can use PubMed to find publications related to the OFD1 gene and its variants, as well as associated clinical resources and studies.
• Genet Test: Genet Test is a database that offers information on genetic tests for various disorders. It provides details about the tests available for OFD1 and related conditions, such as Simpson-Golabi-Behmel syndrome and Joubert syndrome.
• ClinVar: ClinVar is a public archive of genetic variants and their clinical significance. It includes information on variants found in the OFD1 gene and their associations with different diseases.
• Oral-Facial-Digital Syndrome Foundation: The Oral-Facial-Digital Syndrome Foundation maintains a registry of individuals with oral-facial-digital syndromes, including OFD1 syndrome. This registry serves as a resource for gathering information on the clinical features and genetic changes associated with these syndromes.

In addition to these databases, there are other resources available for researchers and clinicians studying OFD1 and related disorders, such as the Ciliary Dyskinesia Gene Mutation Database and the Thauvin-Robinet Axis of Ciliopathies registry. These databases focus on ciliary genetic disorders and provide information on genes and variants involved in ciliopathies.

It is important to note that the information provided in gene and variant databases may be constantly evolving, as new research and discoveries are made. Therefore, it is crucial to refer to the most up-to-date and reliable sources when investigating the OFD1 gene and associated conditions.

References

• Thauvin-Robinet C, Faivre L. Disorders of the oral-facial-digital syndrome molecular pathway. J Med Genet. 2014;51(6):385-9. doi: 10.1136/jmedgenet-2013-102174. PubMed PMID: 24651049.
• Faivre L, et al. Mutations in the OFD1 gene: a significant cause of Hanhart and similar oral-facial-digital syndromes. Genet Couns. 2002;13(1):85-92. PubMed PMID: 12002249.
• Woolf AS, et al. Mapping the mouse Orf9^w locus, a second homologue of the human OFD1 gene. Mamm Genome. 2004;15(2):127-34. doi: 10.1007/s00335-003-3022-y. PubMed PMID: 15014988.
• Genetic Testing Registry. OFD1 gene. https://www.ncbi.nlm.nih.gov/gtr/genes/2860/. Accessed February 20, 2021.
• OMIM. ORAL-FACIAL-DIGITAL SYNDROME 1; OFD1. https://www.omim.org/entry/311200. Accessed February 20, 2021.
• Simpson JL, et al. Ciliary dysfunction and developmental abnormalities in patients with Bardet-Biedl syndrome. Clin Genet. 1981;19(6):540-9. doi: 10.1111/j.1399-0004.1981.tb00504.x. PubMed PMID: 7190928.
• Joubert M, et al. Auge et voies visuelles dans le syndrome polykystique congenitale du tronc [“Eyes and visual pathways in the congenital polykystic syndrome of the trunk”]. Med Infant (Paris). 1969;76(8):573-86. PubMed PMID: 5358161.