Alström syndrome is a rare genetic condition that affects multiple organs and potentially causes a range of medical problems. This article provides an overview of Alström syndrome, including information about its causes, inheritance pattern, associated symptoms, and available resources for support and research.

First described in the medical literature in 1959 by Carl-Henry Alström, this syndrome is caused by mutations in the ALMS1 gene. The ALMS1 gene provides instructions for making a protein that is involved in the structure and function of cilia, which are microscopic, finger-like projections found on the surface of many cells throughout the body. These cilia play important roles in various cellular processes, and dysfunction of cilia can lead to the development of Alström syndrome.

Alström syndrome is inherited in an autosomal recessive pattern, which means that both copies of the ALMS1 gene must have mutations for the syndrome to be present. The frequency of Alström syndrome is extremely rare, estimated to affect approximately 1 in every 1 million individuals worldwide.

Individuals with Alström syndrome may experience a wide range of medical problems, including obesity, diabetes, increased sensitivity to light (photophobia), hearing loss, and kidney, liver, and heart disease. Other symptoms may include vision problems, hormonal abnormalities, and developmental delays. The severity and specific combination of symptoms can vary greatly among affected individuals.

For families and individuals living with Alström syndrome, there are several resources available for support and information. Organizations like the Alström Syndrome UK and Alström Syndrome International provide advocacy, resources, and publications about the condition. Additionally, the Alström Syndrome Disease Support Center offers genetic testing, clinical trials information, and additional resources for patient families.

Frequency

Alström syndrome is a rare genetic disorder that is estimated to occur in fewer than 1 in 100,000 individuals worldwide. It has been reported in various populations across the world.

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Alström syndrome is caused by mutations in the ALMS1 gene, which is located on chromosome 2. Mutations in this gene are responsible for the characteristic features and symptoms of the condition. ALMS1 gene mutations are inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated gene – one from each parent – to develop the syndrome.

The rarity of Alström syndrome and the wide range of symptoms associated with the condition can make it difficult to diagnose. Genetic testing is available to confirm a suspected diagnosis of Alström syndrome. This testing can identify mutations in the ALMS1 gene and is usually performed when a person presents with clinical features consistent with the syndrome. It is important to note that not all individuals with Alström syndrome will have a mutation in the ALMS1 gene, and alternative genetic testing may be necessary to identify the underlying cause in these cases.

Research studies have identified other genes and genetic factors that may be associated with a similar spectrum of symptoms seen in Alström syndrome. These include genes such as BBS1, BBS2, BBS3, and BBS4, which are associated with Bardet-Biedl syndrome. Alström syndrome and Bardet-Biedl syndrome are considered to be part of a broader group of overlapping genetic disorders known as ciliopathies.

Additional information about the frequency and inheritance of Alström syndrome can be found in the OMIM (Online Mendelian Inheritance in Man) database, which catalogues genetic disorders and provides detailed information about their clinical features, genetic causes, and inheritance patterns. Scientific articles published in PubMed can also provide more information on the frequency and genetic causes of Alström syndrome.

For additional support and information about Alström syndrome, patients and their families can contact the Alström Syndrome International Support Center or consult resources from other organizations such as the National Organization for Rare Disorders (NORD). Clinical trials may also be available for individuals with Alström syndrome, and information about ongoing trials can be found on ClinicalTrials.gov.

Causes

Alström syndrome is a rare genetic condition that affects multiple organ systems in the body. It is caused by mutations in the ALMS1 gene. The ALMS1 gene provides instructions for making a protein that is involved in the development and function of various tissues and organs.

According to scientific research, there are more than 200 different mutations in the ALMS1 gene that can cause Alström syndrome. These mutations can disrupt the normal functioning of the protein and lead to the signs and symptoms of the condition.

Alström syndrome is inherited in an autosomal recessive pattern, which means that both copies of the ALMS1 gene must have mutations in order for the condition to develop. If a person has only one mutated copy of the gene, they are considered to be a carrier of Alström syndrome but do not typically show any symptoms of the condition.

To learn more about the causes of Alström syndrome, you can visit various resources such as the National Institutes of Health’s Genetic and Rare Diseases Information Center, the Online Mendelian Inheritance in Man (OMIM) catalog, and PubMed, which is a database of scientific articles. These resources provide additional information about the research and genetic testing associated with Alström syndrome.

See also  BTK gene

ClinicalTrials.gov is another valuable resource that provides information about ongoing clinical trials for Alström syndrome. These trials may investigate new treatments, explore the natural history of the condition, or collect data to better understand the causes and progression of the disease.

In addition to these resources, there are several patient advocacy and support organizations that provide information and support for individuals and families affected by Alström syndrome. These organizations can help connect individuals with healthcare providers, provide educational materials, and offer support for managing the condition.

Learn more about the gene associated with Alström syndrome

Alström syndrome is a rare genetic condition that affects multiple organ systems in the body. It is caused by mutations in the ALMS1 gene, which is involved in the development and function of various tissues and organs.

Patients with Alström syndrome inherit the condition in an autosomal recessive pattern, meaning that they must inherit two copies of the mutated gene – one from each parent – to develop the syndrome.

Studies have shown that mutations in the ALMS1 gene are the primary cause of Alström syndrome. The gene provides instructions for making a protein that is believed to play a role in cell signaling and transportation within cells. Mutations in this gene can impair the protein’s function, leading to the signs and symptoms associated with Alström syndrome.

On the National Center for Biotechnology Information’s PubMed database, you can find many articles and research studies related to the ALMS1 gene and its association with Alström syndrome. These articles provide scientific information about the gene, its functions, and its role in the development of the condition.

In addition to PubMed, the Online Mendelian Inheritance in Man (OMIM) database also contains information about the ALMS1 gene and Alström syndrome. OMIM is a comprehensive catalog of human genes and genetic disorders, providing valuable resources for researchers, healthcare professionals, and individuals affected by genetic conditions.

Furthermore, the Alström Syndrome International Support Group is an advocacy organization that provides support and resources for patients and families affected by the syndrome. Their website offers additional information about the gene, scientific research, clinical trials, and other related topics.

It is important to note that Alström syndrome is associated with a higher frequency of other diseases, including obesity, type 2 diabetes, and heart and liver problems. Genetic testing for mutations in the ALMS1 gene can provide an accurate diagnosis of Alström syndrome and help in managing the condition effectively.

For more information on Alström syndrome, the ALMS1 gene, genetic testing, and related resources, you can explore the following references:

  • Article from ClinicalTrials.gov: “Alström Syndrome” – provides information on ongoing clinical trials and studies related to the condition.
  • Online Mendelian Inheritance in Man (OMIM) database entry for Alström syndrome.
  • Scientific articles on PubMed related to the ALMS1 gene and Alström syndrome.
  • Alström Syndrome International Support Group – a valuable resource for advocacy, support, and information.

Inheritance

Alström syndrome is a rare genetic condition that follows an autosomal recessive pattern of inheritance. This means that both parents of an affected individual must carry a copy of the mutated gene in order for their child to have the condition. If both parents are carriers, each child has a 25% chance of inheriting the syndrome.

Alström syndrome is caused by mutations in the ALMS1 gene, which provides instructions for making a protein involved in the development and function of various organs and tissues. The exact function of this protein is still not fully understood.

To date, over 240 disease-causing mutations in the ALMS1 gene have been identified. Genetic testing can be done to detect these mutations and confirm a diagnosis of Alström syndrome. Several resources, such as clinicaltrialsgov and OMIM, provide additional information about the genetic basis of this condition.

In addition to the ALMS1 gene, other genes may also be associated with Alström syndrome. Ongoing research and scientific studies are being conducted to learn more about these genes and their role in the development of the condition.

Due to the rarity of Alström syndrome, resources and support for affected individuals and their families can be limited. There are several advocacy organizations and patient support groups that provide information, resources, and support for those living with this condition. These organizations can help connect individuals and families with healthcare professionals, clinical trials, and other support services.

It’s important for individuals with Alström syndrome and their families to stay informed about the latest research and advancements in the field. This can help them stay up to date on the latest treatment options and provide a better understanding of the condition.

Key points to remember:

  • Alström syndrome is a rare genetic condition that follows an autosomal recessive pattern of inheritance.
  • It is caused by mutations in the ALMS1 gene, although other genes may also be associated with the syndrome.
  • Genetic testing can be done to confirm a diagnosis of Alström syndrome.
  • Resources and support for those affected by this condition can be limited due to its rarity.
  • Ongoing research and scientific studies are being conducted to learn more about the genetic basis of Alström syndrome.
  • Advocacy organizations and patient support groups are available to provide information, resources, and support for individuals and families affected by this condition.

For more information about Alström syndrome, genetic testing, and clinical trials, additional resources can be found from reputable sources such as clinicaltrialsgov, OMIM, PubMed, and the Genetic and Rare Diseases Information Center (GARD).

Other Names for This Condition

Alström syndrome has several other names:

  • Alström-Hallgren syndrome
  • AH syndrome
  • Conorenal syndrome
  • Hereditary mucoachsal dystrophy
  • Pseudodiabetic syndrome
  • Sensory hearing loss with diabetes mellitus and obesity
  • Sensory neural deafness, slowly progressive, with diabetes mellitus, obesity, and neurological abnormalities

This condition is a rare genetic disorder with an unknown frequency. It is associated with the ALMS1 gene. More information about the causes, inheritance, and testing for Alström syndrome can be found on the OMIM, PubMed, and Genetic Testing Registry websites, as well as on the Center for Information on Clinical Trials (clinicaltrials.gov).

See also  ERCC2 gene

Additional scientific resources and advocacy organizations provide support and information for patient and families affected by this condition.

Additional Information Resources

  • Alström Syndrome UK Support Group – A patient advocacy group providing support, information, and resources for individuals and families affected by Alström syndrome. Learn more about the condition, its associated diseases, and the genetic causes at https://alstrom.org.uk.

  • OMIM (Online Mendelian Inheritance in Man) – A comprehensive online database that contains clinical descriptions, research articles, and genetic information on rare diseases. Visit the Alström syndrome entry on OMIM at https://www.omim.org/entry/203800.

  • PubMed – A database of scientific research articles. Search for Alström syndrome to access scientific studies and advancements in the understanding of the condition at https://pubmed.ncbi.nlm.nih.gov.

  • ClinicalTrials.gov – An online registry of clinical trials. Find ongoing clinical trials and research studies on Alström syndrome at https://www.clinicaltrials.gov.

  • Genetics Home Reference – A resource by the National Library of Medicine that provides information about genes and genetic conditions. Access the Alström syndrome page to learn more about its inheritance pattern, associated genes, and related genetic conditions at https://ghr.nlm.nih.gov/condition/alstrom-syndrome.

  • Genetic and Rare Diseases Information Center – A resource by the National Center for Advancing Translational Sciences that provides information about rare diseases. Visit the Alström syndrome page to find additional resources and support at https://rarediseases.info.nih.gov/diseases/6740/alstrom-syndrome.

  • Alström Syndrome Research Foundation – A non-profit organization dedicated to funding research and finding treatments for Alström syndrome. Learn more about their mission and support their efforts at https://alstrom.org.

Genetic Testing Information

Genetic testing can provide valuable information for patients and healthcare providers in the diagnosis and management of Alström syndrome. Here, we present a catalog of genetic testing information to help patients and their families learn more about this rare genetic condition.

Inheritance

Alström syndrome is known to have an autosomal recessive inheritance pattern. This means that two copies of the disease-causing gene must be present for an individual to develop the syndrome. Genetic testing can identify the specific genes associated with Alström syndrome and determine if a patient is a carrier or affected by the condition.

Testing

Genetic testing for Alström syndrome involves analyzing the genes known to be associated with the condition. The most commonly tested genes include ALMS1 and SLC4A4. Testing can be done using various methods, such as sequencing, deletion/duplication analysis, or targeted mutation analysis.

Frequency

Alström syndrome is a rare genetic disorder, with an estimated frequency of less than 1 in 1 million individuals. Due to its rarity, genetic testing is important for an accurate diagnosis.

Additional Resources

Patients and their families can find additional information and support about Alström syndrome through various resources, including:

  • Genetic Disease Information: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genes associated with Alström syndrome.
  • Clinical Trials: ClinicalTrials.gov is a database of clinical studies conducted worldwide. It provides information on ongoing studies related to Alström syndrome, including genetic testing and potential treatment options.
  • Research Articles: PubMed is a searchable database of scientific research articles. It contains relevant articles on Alström syndrome, its genetic causes, and new developments in the field.
  • Support and Advocacy: Various organizations offer support and advocacy for individuals with Alström syndrome and their families. These organizations can provide additional resources and connect patients with others who are going through similar experiences.

Genetic testing is an essential tool in the diagnosis and management of Alström syndrome. By understanding the genetic causes of the condition, patients and healthcare providers can make more informed decisions about treatment and care.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable resources about Alström syndrome, including information about its genetic causes, associated symptoms, and inheritance pattern.

GARD offers access to a wide range of helpful tools and materials for individuals and families affected by Alström syndrome. You can find information about the genes that are associated with the syndrome and learn about the frequency of the condition. GARD also provides articles and scientific references for those interested in further research.

In addition to genetic information, GARD can help you find resources on clinical trials related to Alström syndrome. By searching on GARD’s website or visiting clinicaltrials.gov, you can learn about ongoing studies and testing options for the syndrome.

If you are a patient or a caregiver, GARD can connect you with advocacy and support groups for Alström syndrome. These organizations offer valuable resources, including patient-centered information, support networks, and educational materials.

By browsing GARD’s catalog, you can find more information about this rare genetic condition and access resources specific to Alström syndrome. GARD’s website provides comprehensive and up-to-date information to support individuals and families affected by rare diseases.

Patient Support and Advocacy Resources

For individuals and families affected by Alström syndrome, it is important to find support and advocacy resources to help navigate the challenges associated with this rare genetic condition. The following resources provide more information, support, and opportunities for involvement:

  • The Alström Syndrome International (ASI): This organization offers support and resources for individuals and families affected by Alström syndrome. ASI provides information about the condition, research updates, links to clinical trials, and opportunities to connect with other families.
  • Genetic and Rare Diseases Information Center: The Genetic and Rare Diseases Information Center (GARD) offers information about Alström syndrome, including its causes, symptoms, and inheritance pattern. GARD also provides links to organizations, support groups, and additional resources for individuals and families affected by rare genetic diseases.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genes associated with Alström syndrome. This resource includes scientific articles, clinical descriptions, genetic testing information, and references to relevant scientific literature.
  • PubMed: PubMed is a database of scientific articles that provides access to publications related to Alström syndrome. This resource allows individuals to learn about the latest research studies, genetic discoveries, and treatment options for the condition.
  • GeneTests: GeneTests is an online catalog of genetic testing laboratories that offer testing for Alström syndrome. This resource provides information about the frequency of the gene mutations associated with the condition, as well as testing options and availability.
See also  HSPB8 gene

By utilizing these patient support and advocacy resources, individuals and families affected by Alström syndrome can learn more about the condition, find support from others facing similar challenges, and stay informed about the latest research and advancements in treatment options.

Research Studies from ClinicalTrials.gov

Alström syndrome is a rare genetic condition caused by mutations in the ALMS1 gene. It is characterized by a variety of symptoms, including vision and hearing impairments, obesity, diabetes, and various other medical conditions. In order to learn more about this syndrome and develop better treatments, research studies have been conducted.

One of the main focuses of research on Alström syndrome is understanding the genetic causes of the condition. Scientists have studied the ALMS1 gene and its role in the development of the syndrome. Genetic testing is being conducted to identify the specific genes and mutations associated with Alström syndrome. This information is then used to understand the frequency of these mutations and the inheritance patterns of the syndrome.

ClinicalTrials.gov is a valuable resource for finding information on research studies related to Alström syndrome. This online database provides a comprehensive catalog of ongoing clinical trials and research studies conducted by scientists and medical professionals. By searching for Alström syndrome on ClinicalTrials.gov, patients and researchers can find information on current studies that are investigating various aspects of the syndrome.

In addition to ClinicalTrials.gov, there are other resources available to learn more about Alström syndrome. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetics, clinical features, and inheritance patterns of rare genetic diseases, including Alström syndrome. PubMed is another valuable resource for finding scientific articles and references about Alström syndrome.

Advocacy groups and patient support organizations also play a vital role in supporting research on Alström syndrome. These organizations provide resources and information for patients and their families, and often contribute to funding research studies. They are also active in raising awareness about the syndrome and advocating for better support and resources for affected individuals.

Research studies from ClinicalTrials.gov provide valuable information on the causes, testing, and management of Alström syndrome. By participating in these studies, patients can contribute to the advancement of scientific knowledge and the development of better treatments for this rare condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a valuable resource for information on rare genetic diseases. It catalogs genes and diseases, providing a comprehensive overview of various conditions, including Alström syndrome.

Alström syndrome is a rare genetic condition characterized by a variety of symptoms, including vision and hearing loss, obesity, diabetes, and heart abnormalities. It is caused by mutations in the ALMS1 gene.

OMIM provides references to scientific articles, clinical trials, and additional resources for further learning and support. It serves as a central hub for information on rare diseases and their associated genes.

  • OMIM provides information on the frequency of genes and diseases in the population, helping researchers and clinicians understand the prevalence of certain conditions.
  • It offers references to articles from PubMed, enabling users to explore the latest research on Alström syndrome and related topics.
  • ClinicalTrials.gov references clinical trials that are investigating potential treatments or interventions for Alström syndrome, providing patients and their families with information on ongoing research.
  • OMIM also provides resources for advocacy and support, connecting individuals and organizations working to raise awareness and support for Alström syndrome.

Additionally, OMIM includes information on other genes and diseases that may cause similar symptoms or share genetic inheritance with Alström syndrome. This catalog of genes and diseases allows clinicians to consider other possible causes when diagnosing patients.

In summary, OMIM is a valuable resource for researchers, clinicians, and patients seeking information on rare genetic diseases like Alström syndrome. Its catalog of genes and diseases, along with references to scientific articles, clinical trials, and advocacy resources, provides a comprehensive and up-to-date source of information on this condition.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on Alström syndrome. This rare genetic condition causes a variety of symptoms and is often associated with other diseases, such as diabetes. Inheritance patterns and the specific gene associated with Alström syndrome have been studied extensively, and PubMed provides a wealth of information on these topics.

The OMIM (Online Mendelian Inheritance in Man) database is a key resource for genetic information, including Alström syndrome. OMIM provides detailed information on the inheritance patterns, genetic mutations, and clinical manifestations of Alström syndrome.

In addition to genetic research, PubMed also provides information on clinical trials related to Alström syndrome. The ClinicalTrials.gov database lists ongoing and completed clinical trials that focus on testing new treatments and interventions for Alström syndrome. This resource can be helpful for patients and caregivers who are interested in learning more about available treatment options.

Other scientific articles in PubMed provide additional information on the clinical features, testing methods, and frequency of Alström syndrome. These articles can help healthcare professionals and researchers stay updated on the latest advancements in the field. They may also provide support and advocacy resources for patients and their families.

Overall, PubMed offers a comprehensive catalog of scientific articles on Alström syndrome, making it an invaluable tool for researchers, clinicians, and patients alike.

References