The NPC1 gene, also known as the Niemann-Pick C1 gene, is a gene that plays a crucial role in the development and function of cells. It is associated with a group of rare genetic conditions known as Niemann-Pick diseases. These conditions have been extensively studied and documented in scientific literature, with many articles available on Pubmed, a well-known database of scientific research.

Testing for genetic changes in the NPC1 gene is available in the medical field, with information on related conditions listed on the Orphanet registry. The Orphanet registry provides a comprehensive resource for rare health conditions, including the Niemann-Pick diseases. Additionally, there are free databases such as OMIM that provide variant information and references for the NPC1 gene.

The NPC1 gene is of particular interest in the study of Niemann-Pick diseases, as changes in this gene can lead to the development of these diseases. There are different forms of Niemann-Pick diseases, each with its own set of clinical features. The Clinical Catalog on the GeneReviews website provides additional information on the various forms of this disease and the genes involved.

Research on the NPC1 gene has focused on understanding the cellular mechanisms involved in Niemann-Pick diseases, as well as potential therapies and treatments. The study of this gene has provided valuable insights into the pathophysiology of these diseases and has paved the way for future research and the development of targeted therapies.

Genetic changes in the NPC1 gene are associated with several health conditions, including:

  • Niemann-Pick Disease: Genetic changes in the NPC1 gene are the cause of Niemann-Pick Disease, a rare genetic disorder characterized by the abnormal accumulation of lipids in cells throughout the body. This disease affects various organs and can lead to progressive neurodegeneration.

For more information on Niemann-Pick Disease, you can refer to the following resources:

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  • PubMed: The PubMed database provides scientific articles and references related to Niemann-Pick Disease. You can find free articles and publications from various research studies.
  • OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It provides information on the NPC1 gene and its associated health conditions.
  • Orphanet: Orphanet is a European database that contains information on rare diseases and related registries. It provides additional information on Niemann-Pick Disease and its variants.
  • Registry of Tests: The Registry of Tests provides information on genetic testing options for Niemann-Pick Disease. It lists the names of specific tests available for this condition.

Genetic changes in other genes, such as the NPC2 gene or the SMPD1 gene, can also cause conditions similar to Niemann-Pick Disease. These conditions are collectively referred to as Niemann-Pick-like diseases and share similar symptoms and characteristics.

It is important to consult healthcare professionals and genetic counselors for accurate diagnosis and management of these genetic conditions. They can provide detailed information on available resources, testing options, and treatment approaches.

See also  Russell-Silver syndrome

Niemann-Pick Disease

Niemann-Pick Disease (NP-C) is a rare genetic disorder that affects the metabolism of lipids, resulting in the accumulation of cholesterol and other fatty substances in various organs of the body.

NP-C is caused by mutations in the NPC1 gene, which provides instructions for making a protein involved in lipid transport within cells. Changes in this gene can lead to the production of a malfunctioning protein, preventing the proper processing and removal of lipids.

Clinical variant of Niemann-Pick Disease includes symptoms such as hepatosplenomegaly (enlargement of the liver and spleen), neurologic deterioration, lung disease, and developmental delay.

There are additional genes, apart from NPC1, that have been associated with Niemann-Pick Disease. These genes include NPC2 and other genes involved in sphingolipid metabolism, such as SMPD1, ASAH1, and LIPA.

To find related articles and scientific information on Niemann-Pick Disease and the NPC1 gene, various resources can be used. Some of the databases and registries include:

  • OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of genetic diseases and their associated genes
  • PubMed – a free scientific database of medical literature
  • Orphanet – an online portal for rare diseases and orphan drugs
  • Genetic Testing Registry – a resource for information on genetic tests and laboratories

These resources provide valuable information on the genetics, clinical manifestations, and management of Niemann-Pick Disease. They can also be helpful in finding additional references and articles related to this condition.

Other Names for This Gene

This genetic information is listed under various other names in different databases and resources. Some of the related names for this gene are:

  • Orphanet
  • NP-C

These names are used to refer to the same gene and provide additional resources and information on related diseases and conditions.

Additional Information Resources

  • NIH Genetic Testing Registry ( provides information about the genetic tests available for NPC1 gene variants.
  • OMIM ( is a comprehensive catalog of human genes and genetic disorders. It includes information on the NPC1 gene and related diseases.
  • PubMed ( is a database of scientific articles, many of which discuss NPC1 gene and its related conditions.
  • Orphanet ( is a free online resource that provides information on rare diseases, including Niemann-Pick disease.
  • Vanier Disease Information Page ( offers a wealth of information on Niemann-Pick disease type C (NP-C) and the genes involved, including NPC1.

These resources can provide additional information on NPC1 gene, genetic testing, changes in the gene, related diseases, and clinical manifestations of these conditions. They are valuable tools for healthcare professionals and individuals seeking further understanding and support.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for various conditions, including the NPC1 gene. These tests can help diagnose and provide information on the Niemann-Pick disease type C (NP-C) and other related conditions.

The GTR lists a variety of resources, including articles from PubMed and other scientific databases, clinical and variant databases, and disease-specific databases such as OMIM and Orphanet. These resources offer additional information, references, and related articles on testing and the NPC1 gene.

The GTR contains information on many genes and conditions, and it provides free access to a comprehensive list of genetic tests. These tests can detect changes in the NPC1 gene and help identify the presence of NP-C and other related diseases.

See also  Cyclic neutropenia

List of Tests
Test Name Test Type Test Description
Genetic Testing for NPC1 Gene Molecular Genetic Testing This test analyzes the NPC1 gene to detect changes associated with Niemann-Pick disease type C.
Carrier Testing for NPC1 Gene Molecular Genetic Testing This test determines if an individual carries a single copy of a changed NPC1 gene mutation.
Prenatal Testing for NPC1 Gene Molecular Genetic Testing This test is performed during pregnancy to detect changes in the NPC1 gene in the fetus.
Diagnostic Testing for NP-C Cellular Analysis This test examines cholesterol metabolism in cells to confirm the diagnosis of NP-C.

Genetic testing for the NPC1 gene and NP-C is crucial in identifying individuals at risk and managing their condition. It offers valuable information for healthcare professionals, researchers, and individuals seeking to understand and address this rare disease.

Scientific Articles on PubMed

PubMed is a widely-used database of scientific articles on various topics, including genetic diseases. It provides a vast collection of published research that can be accessed for free. Several articles related to the NPC1 gene and Niemann-Pick disease type C (NP-C) are listed below:

  • “NPC1 gene changes in rare di

    Catalog of Genes and Diseases from OMIM

    The Catalog of Genes and Diseases from OMIM provides comprehensive information about genetic changes and associated diseases. It serves as a valuable resource for scientists, clinicians, and individuals interested in rare genetic conditions.

    OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that collects information on genes and genetic diseases. The database contains a vast collection of articles published in scientific journals, with each entry providing data on gene names, variant names, related diseases, and other relevant information.

    The information in OMIM is organized in a structured manner, with each gene or disease having a unique identifier. The database provides links to various resources, including PubMed articles, clinical testing laboratories, and other databases like Orphanet and the NPC1 gene-specific database.

    The NPC1 gene, for example, is associated with Niemann-Pick type C (NP-C), a rare genetic disease that affects lipid metabolism. The OMIM entry for the NPC1 gene provides extensive information on the gene’s structure, function, and variant names. It also lists the associated diseases, clinical features, and available testing options.

    For individuals and families affected by NP-C, the OMIM entry offers a centralized source of information on the disease, including available diagnostic tests, related research articles, and references for further reading. Additionally, the entry provides links to related resources, such as patient registries and support organizations.

    OMIM is a free resource that can be accessed by anyone interested in genetic diseases. It provides additional data on the genetic basis of various conditions and serves as a valuable tool for researchers, clinicians, and individuals seeking information on rare genetic disorders.

    • Comprehensive catalog of genes and diseases
    • Provides information on gene names, variant names, and associated diseases
    • Contains a vast collection of articles listed in PubMed
    • Includes rare genetic conditions and related information
    • Offers resources for genetic testing and clinical disease management
    • Links to other databases and registries for additional information

    In conclusion, OMIM serves as a reliable and comprehensive catalog of genes and diseases. It provides valuable information on the genetic basis of various conditions, helping researchers, clinicians, and individuals better understand and manage genetic disorders.

    Gene and Variant Databases

    When it comes to understanding and researching health-related conditions, genes, and genetic testing, accurate and reliable information is key. Gene and variant databases provide a wealth of resources and references for scientists, researchers, and healthcare professionals.

    These databases serve as comprehensive catalogs of genes, variants, and associated conditions. They provide detailed information on various genes and their involvement in different diseases and conditions. By referencing these databases, researchers can access valuable data on gene mutations and their impact on health.

    One of the most renowned gene databases is the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides a comprehensive and curated collection of genes and genetic conditions. It offers information on different genes, their functions, associated diseases, and the clinical symptoms they cause.

    In addition to OMIM, several databases specialize in rare genetic diseases. The Orphanet database focuses on cataloging rare diseases and the genes associated with them. It provides an extensive list of diseases and their corresponding genes, along with additional resources and references for further exploration.

    For diseases related to the NPC1 gene, such as Niemann-Pick disease type C (NP-C) or Niemann-Pick disease with cataplexy (NP-C), specific databases are available. These databases list the genetic changes associated with these conditions and provide further information on the disease characteristics, diagnostic testing, and treatment options.

    Some of the key databases for NPC1-related diseases include the NPC1 Genetic Testing Registry and the NPC1 Variant Database. These resources offer comprehensive information on NPC1 gene variants, associated conditions, and genetic testing options. They serve as valuable references for clinicians, researchers, and individuals seeking information on NP-C and related diseases.

    Another essential resource for accessing scientific articles on genes and associated conditions is PubMed. PubMed is a free online database that provides access to millions of scientific articles and publications. By searching specific gene names or related conditions, researchers can find relevant articles and stay updated with the latest scientific discoveries.

    In conclusion, gene and variant databases play a crucial role in understanding the genetic basis of various diseases and conditions. These databases provide valuable information on genes, associated conditions, diagnostic testing, and treatment options. They allow researchers to explore the relationship between genes and health, and they aid clinicians in diagnosing and managing rare genetic diseases. With the abundance of resources and references available in these databases, the scientific community can continue to expand their knowledge and improve healthcare outcomes for individuals with genetic conditions.


    • Genes: NPC1 gene
    • Databases: Orphanet, OMIM
    • Diseases: Niemann-Pick disease
    • Related genes: NPC2, SMPD1, CYP46A1
    • Changes from the NPC1 gene: Variants, mutations
    • Free resources: Orphanet, OMIM, PubMed
    • Testing: Genetic testing, clinical testing
    • Registry: Orphanet, NPC1 disease registry
    • Scientific articles: PubMed, OMIM
    • Health information: Orphanet, PubMed
    • Variant: NPC1 gene variant
    • Clinical: Clinical information, clinical testing
    • Additional resources: Orphanet, OMIM
    • Rare genetic conditions: Niemann-Pick disease
    • PubMed: Articles on NPC1 gene and related diseases
    • Information Catalog: OMIM, PubMed
    • Cells: Cells affected by NPC1 gene mutations
    • Other genes listed: NPC2, SMPD1, CYP46A1
    • Niemann-Pick disease: Disease caused by NPC1 gene mutations
    • PubMed: Articles on NPC1 gene and Niemann-Pick disease
    • NP-C: Abbreviation for Niemann-Pick disease
    • Gene: NPC1 gene
    • For: Testing for Niemann-Pick disease
    • Articles: Publications on NPC1 gene and related diseases
    • The Tests: Genetic and clinical testing for Niemann-Pick disease
    • OMIM: Online Mendelian Inheritance in Man database
    • Many conditions: Various diseases and genetic conditions
    • References: Sources of information on NPC1 gene and related diseases
See also  RHO gene