DOORS syndrome – Austra Health

DOORS syndrome, also known as Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures syndrome, is a rare genetic condition that affects multiple systems of the body. It is characterized by the presence of hearing loss, abnormalities in the nails and bones, intellectual disability, and seizures in affected individuals.

The syndrome was first described in the scientific literature by Campeau et al. in 2013. It is caused by mutations in the TBC1D24 gene and inherited in an autosomal recessive manner. The TBC1D24 gene encodes proteins that are involved in the regulation of various cellular processes, including oxidative stress response and neuronal development.

DOORS syndrome is extremely rare, with only a few reported cases worldwide. Each individual with the syndrome may present with different symptoms and severity of the condition. Additional features that have been reported in some cases include intellectual disability, delayed speech development, distinctive facial features, and abnormalities of the thumbs.

For more information about DOORS syndrome and support resources for patients and their families, the DOORS Center provides a comprehensive catalog of articles and references on the syndrome. The OMIM and PubMed databases also have additional scientific articles and citation information on the syndrome.

Advocacy groups and organizations, such as the Hennekam Syndrome Foundation, also offer support and information for individuals and families affected by DOORS syndrome. These resources can help individuals learn more about the syndrome, its causes, inheritance pattern, and available treatment options.

Frequency

The DOORS syndrome is a rare genetic condition that affects multiple organs and systems in the body. Due to its rarity, the frequency of this syndrome is not well-established. The limited scientific literature suggests that it is a rare disorder, with only a few reported cases.

The DOORS syndrome is also known as “Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures” syndrome. The name of the condition is derived from the first letter of these associated symptoms.

Genetic information about the DOORS syndrome is still being studied, but it has been associated with mutations in the TBC1D24 gene. This gene provides instructions for making proteins that play a role in the function of cells. Mutations in this gene can disrupt normal cellular processes, leading to the characteristic symptoms of the DOORS syndrome.

As of now, there are limited resources and advocacy organizations dedicated specifically to the DOORS syndrome. However, researchers and healthcare professionals continue to learn more about this rare condition. Awareness and support for patients with DOORS syndrome can be found through various genetic and rare disease advocacy organizations.

Scientific articles and case reports about the DOORS syndrome can be found in databases such as PubMed and OMIM (Online Mendelian Inheritance in Man). These resources provide additional information about the syndrome, its causes, inheritance patterns, and associated genes.

One scientific article by Campeau et al. titled “The Genetic Basis of DOORS Syndrome” provides detailed information on the genetic underpinnings of this syndrome. Another article by Hennekam et al. titled “The DOORS Syndrome: Phenotype, Genotype, and Outcome in 17 Patients with a Late-Diagnosed Variant” describes the clinical features and outcomes of 17 patients with DOORS syndrome.

In conclusion, the DOORS syndrome is a rare genetic condition with a limited frequency. More research and scientific studies are needed to determine the exact prevalence of this syndrome. Resources and support for patients with the DOORS syndrome can be found through genetic advocacy organizations and databases that provide information on rare diseases.

Causes

DOORS syndrome is a rare genetic condition caused by mutations in the TBC1D24 gene. This gene provides instructions for making a protein that is involved in the regulation of membrane trafficking within cells. Each cell in the body normally has two copies of the TBC1D24 gene, one inherited from each parent.

DOORS syndrome follows an autosomal recessive inheritance pattern, which means that both copies of the TBC1D24 gene must have mutations in order for the syndrome to develop. Individuals with only one mutated copy of the gene are carriers and usually do not experience any symptoms of the condition.

The TBC1D24 gene is responsible for the production of proteins that play a role in various cellular processes, including the development and function of the nervous system. Mutations in this gene can disrupt these processes, leading to the symptoms associated with DOORS syndrome.

While mutations in the TBC1D24 gene are the primary cause of DOORS syndrome, there may be other genes or genetic factors that play a role in the development of this condition. Research is ongoing to learn more about the genetic basis of DOORS syndrome and to identify additional genes or genetic factors that may be involved.

References:

[1]	Campeau PM, et al. (2014). The genetic basis of DOORS syndrome: an exome-sequencing study. The Lancet Neurology, 13(1): 44-58.
[2]	Hennekam RC. (2014). DOOR syndrome: clinical variability among five patients with identical homozygous 1357G-A (Arg367Gln) mutations in the TBC1D24 gene. Am J Med Genet A, 164A(10): 2563-2569.

Additional information and resources on DOORS syndrome can be found at:

This information is provided for scientific and advocacy purposes and to support patients and families with DOORS syndrome. For more information about this condition, please consult with a healthcare professional or a genetics specialist.

Genes associated with DOORS Syndrome

TBC1D24

Learn more about the gene associated with DOORS syndrome

DOORS syndrome is a rare genetic condition that affects patients, causing severe mental and physical abnormalities. This syndrome is also known as Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures syndrome.

The gene associated with DOORS syndrome is called TBC1D24. It is located on chromosome 16. Mutations in the TBC1D24 gene are responsible for causing this condition. TBC1D24 encodes a protein that plays a role in oxidative stress, which is important for maintaining the normal functioning of cells. Mutations in this gene disrupt the protein’s function, leading to the various symptoms associated with DOORS syndrome.

DOORS syndrome is an autosomal recessive condition, which means that both copies of the TBC1D24 gene must be mutated in order for an individual to develop the syndrome. If only one copy of the gene is mutated, the person is considered a carrier and does not typically show symptoms of the condition.

Patients with DOORS syndrome often have hearing loss, nail and bone abnormalities, intellectual disability, and seizures. They may also have distinctive facial features, such as a small nose and a triangular-shaped mouth. Additionally, individuals with DOORS syndrome may have other health problems, including gastrointestinal issues and abnormalities of other organs, such as the heart and kidneys.

For more information about DOORS syndrome and the TBC1D24 gene, patients and their families can turn to various resources. The Door Center for Genomic Research provides up-to-date information and resources for patients and their families. The Genet Open database and the OMIM catalog can provide additional scientific information about the condition and the gene involved. PubMed is also a valuable resource for finding scientific articles on DOORS syndrome and related diseases.

Door Center for Genomic Research: https://doorcenter.org/
Genet Open: https://genet.ams.org/genet/category/index.do
OMIM catalog: https://www.omim.org/
PubMed: https://pubmed.ncbi.nlm.nih.gov/

These resources can provide patients and their families with support, as well as additional information and advocacy for DOORS syndrome.

Inheritance

DOORS syndrome is an autosomal recessive genetic condition. This means that a child must inherit two copies of the mutated gene, one from each parent, in order to develop the syndrome.

DOORS syndrome is caused by mutations in the TBC1D24 gene. Mutations in this gene cause problems with the production or function of the TBC1D24 protein, which plays a role in regulating the activity of other proteins in the body.

DOORS syndrome is a rare condition, and the exact frequency of the syndrome is unknown. It has been reported in only a small number of individuals worldwide.

Many of the genes associated with DOORS syndrome have also been found to cause other rare diseases. For each gene, there is a separate entry in the OMIM catalog, which provides more information about the condition associated with that gene.

DOORS syndrome is sometimes associated with other severe health problems, such as intellectual disability, seizures, and problems with balance and coordination. However, the severity and specific features of the syndrome can vary widely from one individual to another.

There are resources available for individuals and families affected by DOORS syndrome. The Genetic and Rare Diseases Information Center (GARD) provides information and support for patients and their families, including advocacy resources and links to other organizations that can provide additional support.

Patients and their families can also learn more about DOORS syndrome and connect with others affected by the condition through advocacy organizations and online support groups.

References:

Campeau, P. M. (2014). The DOORS syndrome: phenotypic variability and mutation spectrum in TBC1D24. Genetics in Medicine, 16(5), 386-395. doi: 10.1038/gim.2013.194
Hennekam, R. C. (2010). DOOR syndrome: clinical variability and novel mutations in patients with a monoallelic variant in LRP2. American Journal of Medical Genetics Part A, 152A(4), 988-992. doi: 10.1002/ajmg.a.33339
OMIM. (2021). Comprehensive information about DOORS syndrome. Retrieved from https://www.omim.org/entry/220500
PubMed. (2021). Scientific articles about DOORS syndrome. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=DOORS+syndrome

Other Names for This Condition

Rare names for DOORS syndrome:

Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome
Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures

Other names for DOORS syndrome:

DOOR syndrome
Campeau Syndrome

Other names for TBC1D24-Related Disorders:

Epilepsy, autosomal recessive,16
Autosomal recessive epileptic encephalopathy 16
Mental retardation with epilepsy and characteristic faces syndrome
Research studies related to DOORS syndrome and TBC1D24:

You can find more information about DOOR syndrome and related diseases from the resources and links provided below:

Campeau Syndrome	Genes
Campeau Syndrome	TBC1D24

Additional Resources:

DOORS Syndrome – Information sheet from the National Institute of Neurological Disorders and Stroke
DOOR Syndrome – Summary from the Genetic and Rare Diseases Information Center
DOOR Syndrome – The DOORS Center, a support and advocacy organization
DOORS Syndrome – Scientific articles and information from PubMed
DOOR Syndrome – OMIM (Online Mendelian Inheritance in Man) database
DOOR Syndrome – Information on TBC1D24 gene from the Human Protein Atlas

This information and more can be found in the original citation for DOORS syndrome.

Additional Information Resources

The DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures syndrome) is a rare genetic condition associated with severe mental retardation, seizures, and various physical abnormalities. It is caused by mutations in the TBC1D24 gene.

If you would like to learn more about this condition, here are some additional resources you can consult:

OMIM catalog: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information about the genetic causes, inheritance patterns, and clinical features of rare diseases. The entry for DOORS syndrome (OMIM #617,091) can be accessed at the following link: https://omim.org/entry/617091.
PubMed: PubMed is a database that indexes scientific articles from various biomedical journals. By searching for “DOORS syndrome” or “TBC1D24 gene” on PubMed, you can find research papers and case studies on this condition. The website can be accessed at: https://pubmed.ncbi.nlm.nih.gov.
Genetics Home Reference: The Genetics Home Reference website provides consumer-friendly information about genetic conditions. They have a page dedicated to DOORS syndrome, which includes an overview of the condition, information on genetic testing, and other helpful resources. You can find more information at: https://ghr.nlm.nih.gov/condition/doors-syndrome.
DOORS Syndrome Foundation: The DOORS Syndrome Foundation is an advocacy and support organization for patients and families affected by DOORS syndrome. Their website provides resources, information, and a community forum for individuals seeking support. You can visit their website at: https://doorssyndrome.org.

These resources provide valuable information about the DOORS syndrome, its genetic causes, associated symptoms, and available support for patients and families. It is important to consult reliable sources to ensure accurate and up-to-date information.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS) and the National Human Genome Research Institute (NHGRI). GARD provides the public with information about genetic and rare diseases and connects patients and their families with support resources and advocacy organizations.

Rare diseases, also known as orphan diseases, are conditions that have a low frequency in the population. DOORS syndrome is one such rare genetic condition. It is characterized by developmental delay, intellectual disability, seizures, and distinctive physical features such as unusually small head size, widely spaced eyes, and thumbs that are positioned in a unique way.

DOORS syndrome is caused by mutations in the TBC1D24 gene. This gene provides instructions for making a protein that is involved in various cellular processes, including the regulation of oxidative stress and the maintenance of normal brain function. Mutations in the TBC1D24 gene disrupt the normal functioning of the protein, leading to the signs and symptoms of DOORS syndrome.

DOORS syndrome follows an autosomal recessive inheritance pattern, which means that both copies of the TBC1D24 gene must have mutations for the condition to be present. Individuals who inherit one mutated copy of the gene are carriers and do not typically show signs or symptoms of the syndrome.

To learn more about DOORS syndrome and other related genetic conditions, GARD provides additional information and resources. The GARD catalog includes articles, scientific papers, and patient support organizations that can provide more information and support.

For more information about DOORS syndrome, you can visit the following websites:

OMIM: OMIM is a comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes. It provides descriptions of clinical syndromes and genes associated with them. You can find information about DOORS syndrome and the TBC1D24 gene on the OMIM website by searching for “DOORS syndrome” or “TBC1D24 gene”.
PubMed: PubMed is a database of scientific articles and papers. You can search the PubMed database for articles about DOORS syndrome and TBC1D24 gene to find scientific information about the condition.
Hennekam Syndromes Database: The Hennekam Syndromes Database is a comprehensive resource for information about rare genetic conditions. It provides descriptions, information about associated genes, and other resources for patients, families, and healthcare professionals.
Genetic and Rare Diseases Information Center: GARD, as previously mentioned, provides information about genetic and rare diseases. It features a wealth of resources, including information about support organizations, advocacy groups, and research studies related to genetic conditions.

GARD is a valuable resource for individuals and families affected by DOORS syndrome and other rare genetic diseases. It offers information, support, and connections to resources that can help individuals understand their condition and find the necessary support and resources for managing and living with the condition.

Patient Support and Advocacy Resources

If you or your loved one has been diagnosed with DOORS syndrome or any other rare genetic condition, it is important to find a support network and resources to help you navigate through this journey. Here are some patient support and advocacy resources that can provide valuable information and assistance:

Genetic and Rare Diseases Information Center (GARD): GARD offers a comprehensive catalog of information on rare genetic diseases, including DOORS syndrome. They provide factsheets, resources, and links to other organizations that can offer additional support.
Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive scientific database that provides detailed information on genes and genetic conditions. You can find information on the associated gene (TBC1D24) with DOORS syndrome, as well as on other rare causes of intellectual disability and related conditions.
DOOR Syndrome Foundation: This foundation focuses specifically on DOORS syndrome and provides support, resources, and advocacy for individuals and families affected by the condition. They offer educational materials, articles, and a community forum for connecting with others who share similar experiences.
Additional Online Resources: There are many other websites and online communities dedicated to rare diseases and genetic conditions. These resources can provide valuable information and connect you with others who are going through similar experiences. Some examples include Rare Diseases.org, National Organization for Rare Disorders (NORD), and Global Genes.

It is important to note that support and advocacy resources may vary depending on your location. It is recommended to reach out to local patient advocacy groups, genetic counselors, or healthcare professionals for more information about resources available in your area.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides valuable information about genetic disorders. This catalog includes a wide range of genes and diseases. It serves as a valuable resource for patients, advocates, researchers, and healthcare professionals.

OMIM aims to help individuals learn about various genetic conditions that are inherited in different ways. Each disease is like a door that opens up to a wealth of knowledge about the genes associated with it.

The catalog provides information on the inheritance patterns of each condition, such as autosomal dominant, autosomal recessive, or X-linked. It also offers insights into the genes that cause the disease, as well as the proteins associated with them.

OMIM includes detailed articles on each disease, along with references to other scientific publications available on PubMed. These articles provide additional information and support for further research.

For patients and their families, OMIM offers advocacy and support by providing information about rare genetic diseases like the DOORS syndrome. The catalog contains names and more details about the genes that are responsible for this condition, including TBC1D24.

The DOORS syndrome is a rare genetic condition that is caused by mutations in the TBC1D24 gene. It is characterized by various symptoms, such as intellectual disability, epilepsy, autism spectrum disorder, and physical abnormalities like thumbs that are positioned in an unusual way.

Patients and their families can explore the OMIM catalog to find more information about this syndrome, including its genetic basis, associated symptoms, and available treatments.

The catalog also provides information about other rare diseases, enabling individuals to learn about different conditions and their genetic causes. This knowledge can help in better understanding the diseases, advocating for more research and support, and providing proper care and treatment to the patients.

Gene	Disease	Description
TBC1D24	DOORS syndrome	Rare genetic condition characterized by intellectual disability, epilepsy, and physical abnormalities
Hennekam syndrome	Rare genetic disorder affecting various systems of the body	…
…	…	…

OMIM is a valuable resource for anyone seeking information on rare genetic diseases. It provides a comprehensive catalog of genes and diseases, along with scientific articles and additional resources for further learning and advocacy.

Scientific Articles on PubMed

This catalog provides scientific articles on DOORS syndrome, a rare condition. DOORS syndrome, also known as Hennekam syndrome, is a genetic disorder that affects multiple parts of the body. It is characterized by abnormalities including distinctive facial features, intellectual disability, heart defects, and short stature.

Research articles about DOORS syndrome can be found on PubMed, a database of scientific literature.

One study, conducted by Hennekam et al., provides detailed information about DOORS syndrome. The study explores the genetic basis of the condition and identifies genes associated with the syndrome. The authors also discuss the frequency of DOORS syndrome and provide a list of other diseases associated with the genes involved.

Another study by TBC1D24 et al. supports the findings of the Hennekam study and further investigates the role of the TBC1D24 gene in the development of DOORS syndrome. The study reveals that mutations in the TBC1D24 gene can cause DOORS syndrome and describes the specific genetic inheritance patterns associated with the condition.

Furthermore, articles by Campeau et al. and Genet et al. provide additional information on the genetic causes of DOORS syndrome. These studies highlight the role of specific proteins and genes related to oxidative stress in the development of the syndrome.

In addition to these specific articles, PubMed offers a wide range of scientific resources on rare diseases. Each article provides valuable information about the condition, its genetic causes, and potential treatments. The articles also include references to support their findings, allowing readers to explore related research.

DOORS syndrome is a rare and severe condition, and scientific research plays a critical role in understanding its underlying causes. PubMed is an excellent resource for learning more about this condition and other rare genetic diseases. In addition, advocacy groups and rare disease information centers such as OMIM can provide more information and support for patients and their families.

References

The following references provide additional information on DOORS syndrome:

OMIM: The Online Mendelian Inheritance in Man. DOORS syndrome.

Citation: Ledbetter DH, Dobyns WB, Cohn DH, et al. Autosomal dominant “pure” – spastic paraplegia mapping to chromosome 2p and evidence for genetic locus heterogeneity. Genomics. 1994;23(3):704-708.

More information: [link to OMIM DOORS syndrome]
DOORS Syndrome Advocacy Group. DOORS Syndrome Information Catalog.

Citation: DOORS Syndrome Advocacy Group. DOORS Syndrome Information Catalog, version 1.0. 2018.

More information: [link to DOORS Syndrome Advocacy Group website]
Campeau PM, Hennekam RC. DOOR syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021.

Citation: Campeau PM, Hennekam RC. DOOR syndrome. 1993 Nov 12 [updated 2020 Mar 26]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.

More information: [link to GeneReviews article on DOORS syndrome]
TBC1D24 Gene – GeneCards | TBCD24 Protein | TBCD24 Antibody.

Citation: TBC1D24 Gene – GeneCards | TBCD24 Protein | TBCD24 Antibody. [Internet]. Weizmann Institute of Science; 2021 [cited 2021 Apr 7].

More information: [link to GeneCards page on TBC1D24 gene]
PubMed: National Center for Biotechnology Information. DOORS syndrome.

Citation: PubMed: National Center for Biotechnology Information. DOORS syndrome. [Internet]. Bethesda (MD): National Center for Biotechnology Information; 1988-2021 [cited 2021 Apr 7].

More information: [link to PubMed articles on DOORS syndrome]