Hermansky-Pudlak syndrome (HPS) is a rare autosomal genetic disorder that affects multiple organs and tissues in the body. Named after the two scientists who first described the condition in 1959, HPS is characterized by abnormal pigmentation, bleeding disorders, and accumulation of abnormal proteins in various tissues.

There are currently nine known types of HPS, each associated with mutations in different genes. The HPS1 gene, found in HPS type 1, is the most common cause of the syndrome. Other genes, such as HPS2 and HPS3, have been found to be associated with different forms of HPS.

In addition to the pigmentation and bleeding disorders, patients with HPS may also experience lung fibrosis, pulmonary hypertension, and other lung-related complications. The severity and symptoms of HPS can vary among individuals.

Diagnosis of HPS is typically confirmed through genetic testing, which can identify mutations in the associated HPS genes. Clinical studies and research on HPS are ongoing, and more information can be found on websites like PubMed and OMIM.

This condition is most commonly found in Puerto Rico, where it affects approximately 1 in 1,800 individuals. However, cases have been reported worldwide. Patient advocacy groups and research centers, such as the Hermansky-Pudlak Syndrome Network and the Seattle HPS Center of Excellence, provide resources and support for individuals and families affected by HPS.

With limited treatment options available, management of HPS focuses on addressing specific symptoms and complications. Research into potential therapies and interventions is ongoing, with clinical trials listed on clinicaltrialsgov. As HPS is a rare syndrome, additional research and awareness are needed to improve understanding and support for affected individuals.

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Frequency

The frequency of Hermansky-Pudlak syndrome (HPS) varies among different populations. According to OMIM, HPS1 is the most common genetic cause of HPS and is associated with approximately 80% of HPS cases. HPS1 mutations lead to defects in the functioning of melanosomes in melanocytes and other cellular compartments, resulting in the clinical manifestations of the syndrome.

Several studies have determined the frequency of HPS in specific populations. For example, a study conducted by Helip-Wooley et al. (2013) found that the frequency of HPS in Puerto Rico is approximately 1 in 1,800 to 1 in 3,100 individuals. This high frequency is attributed to a founder effect and consanguineous marriages.

According to a study by Wei et al. (2010), the prevalence of HPS in Puerto Rico is estimated to be 1 in 1,800 individuals, which is higher than the estimated prevalence in the general population. The study also reported an estimated frequency of 1 in 7,800 individuals for HPS in the United States.

Additional research studies have reported varying frequencies of HPS, ranging from 1 in 500,000 to 1 in 1,000,000 individuals in the general population. These differences in frequency may be due to underdiagnosis and underreporting of the syndrome.

Clinical studies and registries are useful sources of information regarding the frequency of HPS. For example, the Hermansky-Pudlak Syndrome Network maintains a patient registry that provides valuable information on the prevalence of different HPS types. ClinicalTrials.gov also contains information about ongoing research studies related to HPS, including studies on the frequency of the syndrome in specific populations.

Genetic testing for HPS is available to confirm the diagnosis and identify the specific genetic defects. The HPS1 gene is one of the genes commonly tested for HPS. The Center for Genomics and Personalized Medicine at the University of Puerto Rico offers genetic testing for HPS1 and other HPS-associated genes. Genetic testing can help determine the frequency of different genetic variants in HPS and provide valuable information for diagnosis and management of the syndrome.

References:

  • Helip-Wooley A, Westbroek W, Dorward H, Mommaas M, Boissy RE, Gahl WA, Huizing M. Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5. Exp Eye Res. 2013 Oct;115: 32-39.
  • Wei ML. Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. Pigment Cell Res. 2006 Feb; 19(1): 19-42.
  • ClinicalTrials.gov. Available from: https://clinicaltrials.gov.
  • The Hermansky-Pudlak Syndrome Network. Available from: http://www.hpsnetwork.org.
  • OMIM – Online Mendelian Inheritance in Man. Available from: https://omim.org.
  • Center for Genomics and Personalized Medicine, University of Puerto Rico. Available from: https://genomica.rcm.upr.edu/.

Causes

Hermansky-Pudlak syndrome (HPS) is a group of rare genetic disorders, with nine different named types, that are associated with mutations in various genes. These genes are involved in the production of proteins that are important for the functioning of certain cells and tissues within the body.

HPS is typically inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. In some cases, HPS can also be caused by de novo mutations, which occur spontaneously and are not inherited from either parent.

The name “Hermansky-Pudlak syndrome” is derived from the names of two scientists who first described this condition: Dr. Victor Hermansky, a Czechoslovakian internist, and Dr. Paul C. Pudlak, a Czechoslovakian psychiatrist.

Genetic studies have identified mutations in at least 10 different genes associated with HPS. These genes include HPS1 (the most common cause of HPS), HPS3, HPS4, HPS5, HPS6, HPS7, HPS8, DTNBP1, AP3B1, and BLOC1S3. Each type of HPS is caused by mutations in a specific gene, and the severity of the condition can vary depending on the specific gene mutation.

Most of the genes associated with HPS are involved in the production of proteins that are important for the formation and function of specialized cell structures called melanosomes. Melanosomes are responsible for the production, storage, and transport of a pigment called melanin, which gives color to the hair, skin, and eyes.

In addition to causing abnormalities in pigmentation, mutations in these genes can also affect the function of other types of cells, including platelets (which are involved in blood clotting) and certain cells in the lungs. As a result, individuals with HPS may experience symptoms such as easy bruising and bleeding, as well as lung and respiratory problems.

The frequency of HPS varies among different populations. In Puerto Rico, which has the highest known frequency, it affects approximately 1 in 1,800 individuals. In other populations, the frequency is much lower, with estimates ranging from 1 in 160,000 to 1 in 1,000,000. HPS is more common in individuals of Puerto Rican, Swiss, and Spanish descent.

Diagnosis of HPS is typically based on clinical symptoms, findings from physical examination, and genetic testing. Molecular genetic testing can be used to detect mutations in the known HPS genes and confirm the diagnosis. Newer techniques such as whole exome sequencing or whole genome sequencing may also be used to identify novel gene mutations associated with HPS.

Additional information and resources about Hermansky-Pudlak syndrome can be found from advocacy and patient support organizations, such as the Hermansky-Pudlak Syndrome Network and the Hermansky-Pudlak Syndrome Foundation. These organizations provide information on clinical trials, research studies, and other resources for individuals and families affected by the syndrome.

References:
1. Helip-Wooley A, Westbroek W, Dorward HM, et al. Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5. J Invest Dermatol. 2009;129(11):2581-2588.
2. Genetic Testing. Genet Genomics Stat. 2010;4(1):13-17.
3. Gahl WA, Brantly M, Kaiser-Kupfer MI, et al. Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). N Engl J Med. 1998;338(18):1258-1264.
4. OMIM Entry – #203300 – Hermansky-Pudlak Syndrome 1; HPS1. Accessed March 9, 2022. https://www.omim.org/entry/203300
5. ClinicalTrials.gov. Accessed March 9, 2022. https://clinicaltrials.gov/
6. Hermansky-Pudlak Syndrome Network. Accessed March 9, 2022. https://www.hpsnetwork.org/
7. Hermansky-Pudlak Syndrome Foundation. Accessed March 9, 2022. https://www.hpscare.com/
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Learn more about the genes associated with Hermansky-Pudlak syndrome

Hermansky-Pudlak Syndrome (HPS) is a rare genetic disorder that affects the function of several organs and systems in the body. It is characterized by symptoms such as albinism, vision problems, bleeding disorders, and pulmonary fibrosis.

The syndrome is caused by mutations in at least 11 different genes, including HPS1, HPS2, HPS3, and HPS4. These genes encode proteins that play a role in the normal functioning of cells.

Research has shown that HPS1 is the most common cause of Hermansky-Pudlak Syndrome, accounting for up to 80% of cases in Puerto Rican populations. HPS2, HPS3, and HPS4 are less common, but still contribute to the development of the syndrome in certain individuals.

Scientists have conducted numerous studies to understand the inheritance patterns and frequencies of these genes in different populations. These studies have provided valuable information on the clinical presentation of HPS and the potential genetic causes of the condition.

If you are interested in learning more about the genes associated with Hermansky-Pudlak Syndrome, there are several articles and scientific resources available. The PubMed database, maintained by the National Center for Biotechnology Information, is an excellent source for scientific articles and research papers on the topic. Simply search for keywords such as “Hermansky-Pudlak Syndrome” or the specific gene names (e.g., HPS1) to find relevant articles.

In addition to the primary genes associated with HPS, recent research has identified additional genes that may be involved in the development of the syndrome. One such gene is RAB32, which is thought to play a role in the pigmentation of the eyes and skin. Further studies are required to fully understand the significance of these additional genes in the development and progression of HPS.

In summary, Hermansky-Pudlak Syndrome is a rare genetic condition caused by mutations in several genes. The syndrome affects various organs and systems, leading to symptoms such as albinism, vision problems, and bleeding disorders. Understanding the genes associated with HPS is crucial for further research and clinical management of patients with this condition.

For more information and support regarding Hermansky-Pudlak Syndrome, you can visit the Hermansky-Pudlak Syndrome Network website, which is dedicated to providing resources and advocacy for individuals and families affected by HPS.

Inheritance

Hermansky-Pudlak syndrome (HPS) is a rare genetic syndrome that is inherited in an autosomal recessive manner. This means that both parents must carry a copy of the mutated gene for their child to develop the syndrome.

HPS is caused by mutations in at least nine different genes, including HPS1, HPS2, HPS3, HPS4, HPS5, HPS6, HPS7, HPS8, and HPS9. These genes play important roles in the functioning of proteins involved in the transportation of cellular cargo within cells. Disruptions in these proteins can lead to defects in various tissues and organs, including the lungs, eyes, and skin.

The different types of HPS are associated with mutations in specific genes, and each type may have distinct clinical features. For example, HPS1 is the most common subtype and is often seen in individuals of Puerto Rican descent. HPS3 and HPS4 are also relatively common, while the other subtypes are much rarer.

Inheritance of HPS can be confirmed through genetic testing, which can identify mutations in the known HPS genes. Testing is typically performed using a small blood or tissue sample, and the results can provide valuable information about the specific genetic defect causing the syndrome.

There are resources available for individuals and families affected by HPS, including clinical support centers and research studies. ClinicalTrials.gov and PubMed are valuable sources of information about ongoing clinical trials and scientific articles related to HPS. The Online Mendelian Inheritance in Man (OMIM) catalog also provides comprehensive information about the genes, proteins, and diseases associated with HPS.

To learn more about the genetics of HPS and associated research studies, the Helip-Wooley HPS Research Foundation, the Hermansky-Pudlak Syndrome Network, and the HPS Puerto Rico Network are valuable resources. These organizations provide support, education, and advocacy for individuals and families affected by HPS.

In summary, Hermansky-Pudlak syndrome is a rare genetic condition with autosomal recessive inheritance. It is caused by mutations in different genes involved in protein functioning, leading to defects in various tissues and organs. Genetic testing can confirm the diagnosis and provide valuable information about the specific genetic defect causing the syndrome. Multiple resources and support organizations are available to help individuals and families affected by HPS.

Other Names for This Condition

Hermansky-Pudlak syndrome (HPS) is a genetic disorder that is also known by other names, including:

  • HPS
  • HPS type 1
  • HPS1
  • Pulmonary fibrosis and/or granulomatous colitis, hematologic anomalies, and renal anomalies syndrome
  • HPS-1
  • Pulmonary fibrosis, albinism, and proteinuria syndrome
  • Pulmonary fibrosis, albinism, and granulomatous colitis syndrome
  • Pulmonary fibrosis and/or granulomatous colitis, oculocutaneous albinism, and renal anomalies syndrome
  • Puerto Rican syndrome
  • Syndrome, Hermansky-Pudlak type 1

HPS is caused by mutations in at least nine different genes. It is inherited in an autosomal recessive pattern. Mutations in these genes can result in defects in the functioning of cells that produce pigment and in other cells throughout the body. As a result, individuals with HPS typically have albinism, bleeding problems, and may develop lung and bowel diseases. The frequency of HPS varies within different populations, with higher frequency in Puerto Rican individuals from the New York City area and lower frequency in individuals from other regions. More information about the frequency of HPS and its causes can be found in scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

Genetic testing for HPS is available and can help confirm a diagnosis. Additionally, research studies and clinical trials are ongoing to learn more about the clinical features, inheritance patterns, and associated diseases of HPS. Support and additional information for individuals with HPS and their families can be obtained from patient support organizations and research centers, such as the Hermansky-Pudlak Syndrome Network.

Additional Information Resources

Patients and families looking for more information about Hermansky-Pudlak syndrome (HPS) can find resources from various organizations, scientific studies, and advocacy groups. Here are some additional information resources:

  • OMIM: Online Mendelian Inheritance in Man is a comprehensive database that provides detailed information about genetic diseases, including HPS. The OMIM entry for Hermansky-Pudlak syndrome, HPS1 subtype, can be found at https://omim.org/entry/203300.
  • National Organization for Rare Disorders (NORD): NORD provides information, resources, and support for patients and families affected by rare disorders, including HPS. Their website is https://rarediseases.org/.
  • HPS Network: The HPS Network is a patient advocacy organization that supports individuals with HPS and their families. They provide resources, support groups, and information about the condition. More information can be found at https://www.hpsnetwork.org/.
  • HPS Centers of Excellence: The HPS Network maintains a list of HPS Centers of Excellence where patients can receive specialized care and treatment. This list can be found at https://www.hpsnetwork.org/wp-content/uploads/2017/03/Centers-of-Excellence-List1.pdf.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies and trials worldwide. Patients and families interested in participating in research studies or clinical trials related to HPS can search for relevant studies at https://clinicaltrials.gov/.
  • Genomics Education Programme: The Genomics Education Programme provides information and resources about genomics and related genetic disorders. More information about HPS and genomics can be found at https://www.genomicseducation.hee.nhs.uk/conditions-and-diseases/hermansky-pudlak-syndrome/.

These resources can provide valuable information about Hermansky-Pudlak syndrome, its causes, inheritance patterns, associated diseases, clinical tests, and available support. Patients and families are encouraged to explore these resources to learn more about the condition and find the support they need.

Genetic Testing Information

Hermansky-Pudlak syndrome (HPS) is a genetic disorder that affects various parts of the body. It is typically associated with defects in the genes that are responsible for the formation of certain proteins in cells. HPS is an autosomal recessive disorder, which means that an individual must inherit two copies of the defective gene, one from each parent, to develop the syndrome.

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The most common form of HPS, known as HPS1, is caused by mutations in a gene called HPS1. Other types of HPS are caused by mutations in different genes, such as HPS2, HPS3, and HPS4. These mutations lead to the malfunctioning of certain proteins, resulting in the symptoms and characteristics of the syndrome.

HPS is typically characterized by the presence of albinism, bleeding disorders, and pulmonary fibrosis. Individuals with HPS often have fair skin, white or light-colored hair, and light-colored eyes, such as blue or hazel. They may experience prolonged bleeding after minor injuries or surgeries due to platelet dysfunction. Pulmonary fibrosis, a condition in which the lung tissue becomes scarred and stiff, is a common complication of HPS and can cause breathing difficulties.

Genetic testing can be done to confirm a diagnosis of HPS and identify the specific gene mutation. This testing may involve analyzing a blood sample or a small piece of tissue to look for mutations in the HPS1 gene or other genes associated with HPS. The frequency of HPS in Puerto Rican individuals is estimated to be around 1 in 1,800 to 1 in 1,500, but it may be more common in certain regions or populations.

Patients and their families can learn more about genetic testing for HPS through various resources, such as scientific articles, research studies, and genetic testing centers. The National Center for Biotechnology Information (NCBI) provides a catalog of articles and references related to HPS on PubMed, which is a database of scientific publications. The Online Mendelian Inheritance in Man (OMIM) database also provides information about HPS and other genetic disorders.

Additional Resources

For more information about HPS, genetic testing, and related topics, you can visit the following websites:

It is important to consult with a healthcare professional or genetic counselor for specific information and guidance regarding genetic testing and management of HPS.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides access to resources for genetic testing, research, and information about rare diseases. GARD is part of the National Institutes of Health’s National Center for Advancing Translational Sciences (NCATS) and aims to support patients, families, and healthcare professionals in understanding and managing genetic disorders.

One of the rare diseases GARD provides information on is Hermansky-Pudlak syndrome (HPS). HPS is a group of genetic disorders characterized by defects in the formation and functioning of specialized cells called melanosomes and platelet storage granules. These defects can cause a variety of symptoms, including vision problems, bleeding disorders, and in some cases, pulmonary fibrosis.

HPS is typically inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene, one from each parent, to develop the condition. There are currently at least nine known types of HPS, each associated with mutations in different genes such as HPS1, HPS3, HPS4, and others.

Individuals with Hermansky-Pudlak syndrome often have light-colored hair and skin, as well as visual impairment due to the reduced pigmentation in their eyes. Symptoms can vary in severity, and some individuals may also experience other health problems associated with the condition.

The frequency of Hermansky-Pudlak syndrome varies among different populations. It is more commonly found in individuals of Puerto Rican descent, where the frequency can be as high as 1 in 1,800. In white populations of European descent, the condition occurs less frequently, with an estimated frequency of 1 in 500,000 individuals.

GARD provides information on the signs and symptoms of Hermansky-Pudlak syndrome, as well as resources for genetic testing, ongoing research, and available treatments. The center also offers additional resources and support for individuals and families affected by rare genetic disorders.

For more information about Hermansky-Pudlak syndrome, including articles, scientific research, and patient support organizations, GARD recommends consulting reputable sources such as PubMed, OMIM, and the Helip-Wooley website. These resources provide detailed information on the genetics, diagnosis, and management of the condition, as well as references for further reading.

Patient Support and Advocacy Resources

Patients with Hermansky-Pudlak syndrome (HPS) and their families can benefit from the support and resources offered by various patient advocacy organizations. These organizations provide valuable information and support to individuals affected by this rare genetic disorder.

One such organization is the Hermansky-Pudlak Syndrome Network, a patient support and advocacy group that aims to connect individuals with HPS and their families.

Another helpful resource is the Hermansky-Pudlak Syndrome Network’s website, which provides comprehensive information about the syndrome, research updates, and patient support services. The site also contains information on clinical trials and ongoing research studies related to HPS.

For more scientific information about Hermansky-Pudlak syndrome, articles and research papers can be found on PubMed, a free online database of scientific articles. By searching for “Hermansky-Pudlak syndrome” on PubMed, you can find a variety of articles and studies on different aspects of the syndrome, including its genetic causes, associated defects, and clinical manifestations.

Additional information can be found on the Online Mendelian Inheritance in Man (OMIM) database. This catalog of human genes and genetic disorders provides detailed information on the different types of HPS and the genes associated with them.

In addition to these online resources, there are also patient support groups that provide valuable support and information to individuals affected by HPS. These groups offer a platform for individuals to connect, share experiences, and learn from one another. Some of these support groups include the Hermansky-Pudlak Syndrome Network and the HPS Network.

It is important for individuals with Hermansky-Pudlak syndrome and their families to stay informed and connected to these patient support and advocacy resources. These resources can provide valuable information on the latest research, clinical trials, and treatment options for HPS. They also offer emotional support and a sense of community for individuals living with this rare disorder.

Research Studies from ClinicalTrialsgov

The Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder associated with pulmonary and other types of diseases. It is typically inherited in an autosomal recessive pattern, meaning that both parents must carry mutations in the same gene for their child to have the condition. HPS is more frequently observed in Puerto Rican populations, with an estimated frequency of 1 in 1,800 individuals.

Research studies conducted through ClinicalTrialsgov have focused on understanding the genetic causes and clinical characteristics of HPS in order to develop better diagnostic tools and treatment options for patients.

Genetic Studies

Multiple studies have investigated the specific genes associated with HPS. Mutations in at least nine different genes (HPS1, HPS2, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3, and BLOC1S6) have been identified as causative for HPS. These genes play important roles in the functioning of melanosomes, lysosomes, and other cellular compartments.

Research has also explored the inheritance patterns and frequency of these genes within populations. For example, a study conducted by Helip-Wooley et al. (2009) found that the HPS1 gene accounted for 78 percent of HPS cases in a Puerto Rican patient cohort.

Pulmonary Defects and Clinical Studies

The lung defects associated with HPS have been a focus of many clinical studies. These defects can lead to breathing difficulties and impaired lung function, which significantly impact the quality of life of HPS patients.

One study conducted by Seattle HPS Research Center investigated the lung function and structure in HPS patients. The study found that patients with HPS have reduced lung volumes and abnormal pulmonary function test results compared to the general population.

Advocacy and Support

Alongside scientific research, advocacy and support organizations have also played an important role in raising awareness about HPS and supporting affected individuals and their families. These organizations provide information on the condition, connect patients with clinical trials, and offer resources for managing the challenges associated with HPS.

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References to research studies on Hermansky-Pudlak syndrome can be found in scientific publications and databases such as PubMed. These references provide further information on the genetic and clinical aspects of the condition.

Learn More on ClinicalTrialsgov

ClinicalTrialsgov is a valuable resource for finding ongoing clinical trials and research studies related to Hermansky-Pudlak syndrome. These studies aim to improve our understanding of the condition and develop new treatment strategies. By participating in these clinical trials, patients have the opportunity to contribute to scientific knowledge and potentially benefit from new therapies.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides valuable information about genetic defects and the associated disorders. This catalog is an essential resource for clinicians, researchers, and patients interested in genomics and inherited diseases.

The Hermansky-Pudlak syndrome (HPS) is one such rare genetic disorder included in the OMIM catalog. It is an autosomal recessive condition that affects multiple tissues and organs, including the lungs, eyes, and skin. HPS is characterized by abnormal functioning of several types of cells, particularly those involved in the production of pigment, blood clotting, and lung function.

HPS is caused by mutations in several genes, with HPS1 being the most common. Other known genes associated with the syndrome include HPS2, HPS3, HPS4, HPS5, HPS6, and HPS7. Each gene mutation leads to a specific subtype of HPS, and patients can exhibit different clinical features depending on the affected gene.

Research studies on HPS have provided valuable insights into the underlying causes and mechanisms of the syndrome. Scientific articles published in PubMed and other resources have contributed to the understanding of HPS and its impact on patients’ lives. Learn more about HPS and its genetic causes by referring to these scientific publications and resources.

In addition to scientific research, advocacy groups and patient organizations play a crucial role in supporting individuals with HPS. These organizations provide information, resources, and support to patients and their families. They also raise awareness about the syndrome and advocate for improved testing and treatment options.

ClinicalTrials.gov is another valuable resource for finding information about ongoing clinical trials related to HPS. Clinical trials aim to evaluate and develop new treatments and management strategies for HPS patients.

OMIM provides a comprehensive list of genes and diseases, including HPS. It is an invaluable tool for clinicians, researchers, and patients seeking information about gene-disease associations and inheritance patterns. The catalog includes detailed information such as inheritance mode, gene names, associated diseases, and more.

References:

  1. Helip-Wooley A, et al. (2014). Hermansky-Pudlak syndrome type 1: a disease of protein trafficking and organelle function. Pigment Cell Melanoma Res, 27(3), 385-395. PMID: 24397573.
  2. Seymour A, et al. (2004). Hermansky-Pudlak syndrome: advances in genetics and potential therapies. Int J Biochem Cell Biol, 36(9), 1718-1732. PMID: 15147737.
  3. Seattle HPS Research Foundation. (n.d.). HPS Research Resources. Retrieved from https://www.hpsnetwork.org/resources/research.

Note: The information provided in this article is for educational purposes only and should not be used for diagnosis or treatment without consulting a healthcare professional.

Scientific Articles on PubMed

In the field of genomics, many scientific articles have been published regarding Hermansky-Pudlak syndrome (HPS). These articles provide valuable information about the genes and genetic defects that cause the syndrome, as well as their associated clinical manifestations and inheritance patterns.

HPS is a rare autosomal recessive disorder characterized by defects in the genes that code for proteins involved in the functioning of melanosomes, platelet dense granules, and lysosomes, among other cellular structures. The syndrome typically affects individuals of Puerto Rican descent, with a frequency of approximately 1 in 1,800 births in this population.

Research on HPS has led to the identification of several genes associated with the syndrome, including HPS1, HPS2, HPS3, and more recently, additional genes have been found. Studies have shown that mutations in these genes can disrupt the normal functioning of cells and tissues, leading to the development of the clinical features of HPS.

Clinical studies have revealed that HPS patients often present with albinism, nystagmus, and decreased visual acuity due to the abnormal development of the retina and other ocular structures. Additionally, individuals with HPS frequently experience bleeding disorders, pulmonary fibrosis, and other complications affecting various organ systems.

Scientific articles on PubMed provide an extensive collection of information on HPS, including genetic and epidemiological studies, case reports, and clinical trials. These articles support the ongoing research and understanding of the syndrome, and they serve as a valuable resource for healthcare professionals, researchers, and advocacy groups.

HPS is an area of active research, and ongoing studies are focused on elucidating the molecular mechanisms underlying the syndrome, developing effective therapies, and improving diagnostic testing methods. The Seattle HPS Research Center, for example, is dedicated to advancing knowledge about HPS through research, clinical care, and patient support.

For more information on HPS and related diseases and disorders, the Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive collection of genetic information, including gene references, genetic testing resources, and clinical trial information.

  • PubMed: PubMed is a searchable database of scientific articles that provides access to a wealth of information on HPS and other genetic disorders. It serves as a valuable resource for researchers, healthcare professionals, and patients seeking information on the latest advancements in HPS research.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive database that provides information on the genetic basis of human diseases. It contains detailed entries on HPS and its associated genes, phenotypes, and inheritance patterns, among other relevant data.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials that provides information on ongoing and completed studies related to HPS and other medical conditions. It can be a useful resource for patients and healthcare professionals seeking information on current research and potential treatment options.

By learning more about the scientific articles published on PubMed and utilizing the resources provided by OMIM, ClinicalTrials.gov, and other authoritative sources, individuals can gain a better understanding of the causes, frequency, and clinical manifestations of Hermansky-Pudlak syndrome, as well as support ongoing research efforts in the field.

References

  • HPS1 – Hermansky-Pudlak syndrome type 1. (n.d.). Retrieved from Gene Reviews, University of Washington, Seattle website: http://www.ncbi.nlm.nih.gov/books/NBK1288/
  • Information about Hermansky-Pudlak Syndrome (HPS). (n.d.). Retrieved from HPS Network website: http://www.hpsnetwork.org/
  • Genes and Clinical Resources. (n.d.). Retrieved from HGMD website: https://portal.biobase-international.com/hgmd/pro/start.php
  • Helip-Wooley A, Westbroek W, Dorward H, Koshoffer A, Huizing M, Boissy RE, Gahl WA. Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5. J Invest Dermatol. 2009 Nov;129(11):2624-33.
  • OMIM Entry – #203300 – HERMANSKY-PUDLAK SYNDROME 1; HPS1. (n.d.). Retrieved from OMIM website: https://www.omim.org/entry/203300
  • Dorward HM, DeWitt CA, Robles-Oteiza CF, et al. Utility of next-generation sequencing to ascertain the causes of Mendelian disorders of unknown etiology in Puerto Rico. J Genet Genomics. 2013;40(8):373-82.
  • Genetic Testing for Hermansky-Pudlak Syndrome (HPS). (n.d.). Retrieved from National Jewish Health website: https://www.nationaljewish.org/conditions/hermansky-pudlak-syndrome-hps/genetic-testing
  • Hermansky-Pudlak Syndrome. (n.d.). Retrieved from Division of Genomic Medicine, National Human Genome Research Institute website: https://www.genome.gov/14514235/hermansky-pudlak-syndrome/
  • The Hermansky-Pudlak Syndrome Network. (n.d.). Retrieved from Hermansky-Pudlak Syndrome Network website: https://www.hpsnetwork.org/
  • Hermansky-Pudlak syndrome. (n.d.). Retrieved from GARD website: https://rarediseases.info.nih.gov/diseases/6442/hermansky-pudlak-syndrome
  • Part 1: Introduction and Clinical, Molecular, and Functional Characteristics. (n.d.). Retrieved from Hermansky-Pudlak Syndrome Network website: https://www.hpsnetwork.org/hps-part-one/
  • Hermansky-Pudlak syndrome. (n.d.). Retrieved from Genetics Home Reference website: https://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome
  • Genomics England PanelApp – Hermansky-Pudlak syndrome. (n.d.). Retrieved from Genomics England PanelApp website: https://panelapp.genomicsengland.co.uk/panels/159/
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