The HPS1 gene, also known as the Hermansky-Pudlak Syndrome 1 gene, is responsible for causing changes in the genetic makeup that can lead to Hermansky-Pudlak Syndrome (HPS). HPS is a rare genetic disorder that affects various organs and can have a significant impact on an individual’s health.

This gene is listed in various genetic registries and resources, such as OMIM, in order to provide information about the condition and associated genetic testing. It is important for healthcare professionals to have access to these resources as they can assist in diagnosing and managing patients with the syndrome.

Research on the HPS1 gene and other related genes is ongoing, and the information obtained is used to develop clinical tests to help diagnose and treat patients. Scientists also study the variant forms of this gene to understand how they cause the different forms of HPS. Additionally, the HPS1 gene is of interest to researchers in the field of genomics, as it is associated with other diseases and conditions.

There are several databases, such as PubMed and the Genetic Testing Registry, that provide free access to scientific articles and references related to the HPS1 gene. These resources are valuable for healthcare providers and researchers who seek to expand their knowledge on this topic. Dr. Huizing and his team have made significant contributions to the understanding of the HPS1 gene and related conditions.

The HPS1 gene is associated with various health conditions and genetic changes. Below is a list of resources and information related to these conditions:

  • Hermansky-Pudlak syndrome (HPS): This is a rare genetic disorder characterized by a decreased amount of pigment in the hair, skin, and eyes, as well as bleeding problems and other health issues. HPS1 gene mutations are a known cause of HPS.
  • Puerto Rican HPS1 Ala2Val variant: This specific variant of the HPS1 gene is commonly found in individuals of Puerto Rican descent and is associated with an increased risk of HPS.
  • Clinical features: Individuals with HPS1 gene mutations may exhibit symptoms such as easy bruising, nosebleeds, lung and gastrointestinal complications, as well as vision problems.
  • Testing and diagnosis: Genetic testing can be done to identify mutations in the HPS1 gene. This can help confirm a diagnosis of HPS and guide appropriate management and treatment strategies.
  • Scientific articles and references: Scientific articles in PubMed and other databases provide additional information on HPS1 gene mutations, related health conditions, and their clinical implications.
  • OMIM and Genomics Research Resources: The Online Mendelian Inheritance in Man (OMIM) database and genomics research resources provide comprehensive information on genetic disorders, including HPS1 gene-related conditions.
  • Hermansky-Pudlak Syndrome Network and Registry: The Hermansky-Pudlak Syndrome Network and Registry is a valuable resource for individuals and families affected by HPS, providing support, information, and opportunities for participation in research studies.
  • Blood and lung diseases: HPS1 gene mutations and related conditions can affect various organs and systems in the body, including blood and lung function. Monitoring and management of these conditions is important for overall health.
  • Other genes: In addition to HPS1, there are other genes associated with HPS and related disorders. These genes play a role in the development and function of specialized cell structures called lysosomes.
  • Additional resources: Apart from the mentioned resources, there are several other databases, registries, and health organizations that provide information and support for individuals and families affected by genetic conditions.
See also  APC gene

Understanding the genetic changes in the HPS1 gene and their impact on health is crucial for accurate diagnosis, appropriate management, and the development of potential treatments for individuals with related conditions.

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Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder that affects various organs and tissues in the body. It is named after the scientists who first described it, Hermansky and Pudlak.

HPS is a rare autosomal recessive disorder, meaning that both parents must carry a variant of the HPS1 gene for their child to inherit the syndrome. The HPS1 gene provides instructions for making a protein that is involved in the formation of specialized cell structures called lysosomes and related organelles called melanosomes.

Individuals with HPS have defects in lysosomes and melanosomes, which result in a variety of symptoms and clinical features. Some common features of HPS include albinism (lack of pigment in the skin, hair, and eyes), bleeding problems, and storage of an abnormal fatty substance called ceroid lipofuscin in various organs such as the lungs and intestines.

Diagnosis of HPS can be challenging due to its rarity and the wide range of symptoms associated with the syndrome. Genetic testing of the HPS1 gene can be performed to confirm a diagnosis. Additionally, tests such as blood tests, lung function tests, and eye examinations can be used to evaluate the severity of the disease and monitor its progression.

Scientific articles related to Hermansky-Pudlak syndrome can be found in databases like PubMed and OMIM. These resources provide additional information on the genetic changes associated with HPS1 and other genes involved in the syndrome. The HPS1 gene is listed in online catalogs and genomics databases, which can be accessed for free.

Further clinical information on Hermansky-Pudlak syndrome, including names of additional related genes, can be found in the HPS Registry. This registry collects and maintains information on individuals with HPS and other related conditions.

Resources for Hermansky-Pudlak syndrome
Resource Description
PubMed A database of scientific articles
OMIM A catalog of human genes and genetic disorders
HPS Registry A central registry for HPS and related conditions

Other Names for This Gene

  • Hermanosky-Pudlak Syndrome 1 Gene (HPS1)
  • HPS1
  • Hermansky-Pudlak Syndrome 1 (HPS1) Gene
  • Genet HPS1
  • HPS1 genet
  • Hermansky-Pudlak Syndrome 1 (HPS1) Related Genes
  • HPS1 Genet
  • HPS1 Related Diseases and Conditions
  • Hermansky-Pudlak Syndrome 1 (HPS1) Genomics
  • Genet HPS1 Variant
  • HPS1 Gene Testing
  • Changes in the HPS1 Gene
  • HPS1 Gene Testing Catalog
  • HPS1 Gene Testing Resources
  • HPS1 Gene Testing Information
  • HPS1 Gene Testing Central
  • Hermansky-Pudlak Syndrome 1 (HPS1) Registry
  • HPS1 Gene Testing Registry
  • HPS1 Gene Testing Health
  • Hermansky-Pudlak Syndrome 1 Gene (HPS1) Testing
  • HPS1 Gene Testing Articles
  • HPS1 Gene Testing References
  • HPS1 Gene Testing PubMed
  • HPS1 Gene Testing OMIM
  • Hermansky-Pudlak Syndrome 1 Gene (HPS1) Information
  • HPS1 Gene Testing Pubmed
  • Puerto Rican HPS1 Gene Variant
  • HPS1 Gene Testing Databases
  • Additional Names for the HPS1 Gene
  • HPS1 Gene Lung
  • HPS1 Gene Blood
  • HPS1 Gene Free

Please note that the listed names for the HPS1 gene are for informational purposes and may vary depending on different scientific resources and databases. Genetic testing and clinical examination are necessary to determine the specific variant and associated diseases or conditions that can result from changes in this gene.

Additional Information Resources

For more scientific information about the HPS1 gene and related genomics, the following resources may be helpful:

  • The Catalog of Genes and Diseases: This resource provides a comprehensive list of names and references for genes and variants associated with various diseases. The HPS1 gene is listed in this catalog as being related to Hermansky-Pudlak Syndrome (HPS). You can access this catalog at
  • PubMed: PubMed is a free database that provides access to a wide range of scientific articles. You can search for publications related to the HPS1 gene and HPS syndrome using keywords like “HPS1 gene” or “Hermansky-Pudlak Syndrome”. You can access PubMed at
  • The OMIM (Online Mendelian Inheritance in Man) database: OMIM is a comprehensive resource that provides information on the genetic basis of human disease. It includes clinical descriptions, molecular changes, and testing information for various conditions. You can access the OMIM database at
  • HPS1 Genetic Testing and Registry: The Puerto Rico Health Science Journal has a registry and testing service for the HPS1 gene. This resource is focused on the Puerto Rican population and provides information and testing options specifically related to HPS1. You can find more information about this service at
See also  PGK1 gene

These resources can provide additional information on the HPS1 gene, Hermansky-Pudlak Syndrome, and related scientific research.

Tests Listed in the Genetic Testing Registry

Hermansky-Pudlak Syndrome 1 (HPS1) Gene

The HPS1 gene is associated with Hermansky-Pudlak syndrome (HPS), a group of genetic disorders characterized by reduced pigmentation of the skin and hair, bleeding problems, and problems with the function of various organs. HPS1 gene mutations can cause HPS, which is inherited in an autosomal recessive manner.

Test Name Clinical Testing Research Testing
HPS1 Variant Analysis Available Available

The Genetic Testing Registry (GTR) lists the following tests for the HPS1 gene:

  • Hermansky-Pudlak syndrome 1 (HPS1) gene

Other names for the HPS1 gene include:

  • HPS1, Puerto Rican type
  • Puerto Rican Syndrome

This gene is associated with the following conditions:

  • Hermansky-Pudlak syndrome 1

Clinical testing for the HPS1 gene can be conducted to diagnose individuals with Hermansky-Pudlak syndrome. Research testing is also available for scientific and medical purposes.

References to the testing of the HPS1 gene can be found in scientific articles from databases such as PubMed and OMIM. These resources provide valuable information on the genetic changes associated with HPS1 and other related genes.

Scientific Articles on PubMed

PubMed is a valuable resource for finding additional scientific information on the HPS1 gene and related conditions. It provides a comprehensive collection of clinical articles and references from journals in the field of genetics and genomics.

Some of the names under which Hermansky-Pudlak syndrome is listed in PubMed include HPS1, HPS, and HPS gene. These articles provide detailed information about the genetic changes and variants associated with this syndrome, as well as the clinical features and testing methods.

In addition to PubMed, other databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry also offer resources for learning more about the HPS1 gene and related diseases. These databases centralize information about genetic testing and provide details about the causes and effects of specific gene variants.

The HUZING gene is another gene closely related to Hermansky-Pudlak syndrome. PubMed provides scientific articles that explore the relationship between these genes and the syndrome, as well as the specific changes or mutations that can cause the syndrome.

Some of the scientific articles in PubMed focus on the lung and blood conditions associated with Hermansky-Pudlak syndrome. These articles provide insights into the underlying genetic causes and potential treatment options for these conditions.

In summary, PubMed is a valuable resource for finding scientific articles and references on the HPS1 gene and related conditions. It offers a wealth of information on the genetic changes, clinical features, and testing methods for Hermansky-Pudlak syndrome and other related diseases. Researchers and health professionals can access this information for free, making PubMed an essential tool in the field of genomic health.

See also  HSD3B7 gene

Catalog of Genes and Diseases from OMIM

The HPS1 gene is part of a catalog of genes and diseases from OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive database that provides information on genetic diseases and related genes.

The HPS1 gene is associated with a rare genetic disorder called Hermansky-Pudlak Syndrome Type 1. This syndrome affects various organs and tissues in the body, including the lungs, skin, and blood.

The HPS1 gene is listed in the OMIM database as the central cause of this syndrome. There are also other genes associated with Hermansky-Pudlak Syndrome listed in the database.

OMIM provides additional information on the HPS1 gene, including references to scientific articles and clinical resources. These resources can be used for further testing and research on this genetic condition.

In addition to the HPS1 gene, OMIM lists other genes and conditions related to Hermansky-Pudlak Syndrome. This catalog of genes and diseases provides comprehensive information for researchers, clinicians, and patients interested in this genetic disorder.

OMIM also provides free access to genomics and medical information. It is a valuable resource for understanding the genetic basis of various diseases and conditions.

For more information on the HPS1 gene and Hermansky-Pudlak Syndrome, you can visit the OMIM website or refer to the references and resources listed in the database.

References and Resources

Gene and Variant Databases

The HPS1 gene and its variants are listed in several gene and variant databases. These databases provide valuable resources for researchers, clinicians, and individuals interested in the genetic changes that cause Hermansky-Pudlak syndrome and related conditions.

One of the most comprehensive databases is OMIM (Online Mendelian Inheritance in Man). OMIM is a central repository of information on human genes and genetic conditions. It provides detailed scientific articles, clinical descriptions, and references to other resources for each gene and variant listed, including HPS1.

In addition to OMIM, other databases such as PubMed and Genet Registry offer free access to scientific articles, clinical information, and genetic testing resources related to HPS1 and other genes. These databases provide a wealth of information on the genetic basis of diseases and conditions, including lung diseases in HPS1.

The HPS1 gene and its variants may also be found in gene databases specific to certain ethnic populations or regions. For example, the Puerto Rico HPS Consortium provides resources and testing information specifically for individuals of Puerto Rican descent who may be affected by HPS1 mutations.

Genetic testing laboratories often utilize these databases to identify and characterize genetic changes in HPS1 and other genes. The information in these databases helps guide diagnostic testing and provides clinicians with information necessary for patient management.

Overall, gene and variant databases play a vital role in advancing the field of genomics by compiling and organizing genetic information, facilitating research and clinical testing, and improving our understanding of the genetic basis of diseases.


  • Genetics Home Reference: HPS1 gene
  • Hermansky-Pudlak Syndrome Genetic Testing Registry – provides information about testing for variants in the HPS1 gene
  • PubMed – a catalog of articles from scientific journals on health and genetics
  • Genomics – a central resource for genes and diseases
  • OMIM (Online Mendelian Inheritance in Man) – a database of genetic conditions and related information
  • PubMed Central – a free full-text archive of scientific articles
  • Puerto Rico HPS1 Registry – a database of individuals with Hermansky-Pudlak Syndrome in Puerto Rico
  • Testing Resources for HPS1 gene – a list of available tests for the HPS1 gene
  • GeneReviews – provides information about clinical characteristics and testing for HPS1 gene
  • Articles listed in PubMed related to HPS1 gene – a curated list of scientific articles on the HPS1 gene