The MVK gene, also known as mevalonate kinase, is a gene that plays a key role in the mevalonate pathway, which is involved in the synthesis of cholesterol and other essential molecules in the body. Mutations in this gene can lead to a deficiency in mevalonate kinase and result in a condition known as mevalonic aciduria, which is characterized by a range of health problems.

Research on the MVK gene has led to the development of genetic tests to identify changes or variants in the gene that are associated with mevalonate kinase deficiency. These tests can be used by healthcare professionals to diagnose individuals with the condition and provide additional information on the specific genetic changes that are causing the condition.

There are several databases and resources available to researchers and healthcare professionals that provide information on the MVK gene, including the OMIM gene database and the PubMed scientific database. These resources contain articles, references, and other information on the gene and its association with mevalonic aciduria and other related conditions.

The MVK gene is just one example of the thousands of genes cataloged in the scientific community that play a role in various genetic conditions and diseases. Understanding the function and variants of these genes is crucial for researchers to develop effective diagnostic tests, treatment options, and potential therapies for individuals affected by these conditions.

Genetic changes in the MVK gene can lead to various health conditions. The MVK gene provides instructions for producing an enzyme called mevalonate kinase. This enzyme is involved in the synthesis of cholesterol and other important molecules in the body. Changes in the MVK gene can result in a deficiency or dysfunction of mevalonate kinase, leading to disruptions in the mevalonate pathway.

One of the health conditions related to genetic changes in the MVK gene is mevalonic aciduria. Mevalonic aciduria is a rare genetic disorder characterized by a deficiency of mevalonate kinase. This condition can lead to a range of symptoms, including recurrent fever episodes, gastrointestinal issues, joint pain, and skin rashes. The symptoms of mevalonic aciduria usually appear in early childhood.

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Researchers have identified several other genetic changes in the MVK gene that are associated with different types of diseases. These genetic changes can result in a variant form of mevalonate kinase or an impaired enzyme function. Some of the conditions related to these genetic changes include hyperimmunoglobulin D syndrome and periodic fever syndromes.

To learn more about the health conditions related to genetic changes in the MVK gene, researchers can refer to scientific articles listed on PubMed and other scientific databases. Additionally, resources such as the Online Mendelian Inheritance in Man (OMIM) catalog and the Genetic Testing Registry can provide additional information on the features, types, and names of these conditions.

Genetic testing can be helpful in diagnosing these health conditions and identifying the specific genetic changes in the MVK gene. Individuals with a family history of mevalonic aciduria or other related conditions may consider genetic testing to determine their risk of developing the disease.

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  1. Online Mendelian Inheritance in Man (OMIM) catalog:
  2. Genetic Testing Registry:
  3. PubMed:

Mevalonate kinase deficiency

Mevalonate kinase deficiency is a rare genetic condition that affects the mevalonate pathway, leading to changes in the production of certain chemicals in the body. It is caused by variations in the MVK gene, which provides instructions for making an enzyme called mevalonate kinase.

Mevalonate kinase deficiency is also known by other names, including mevalonic aciduria and mevalonic acidemia. It is characterized by a range of features and symptoms, including recurrent episodes of fever with accompanying symptoms, such as abdominal pain, vomiting, diarrhea, joint pain, and skin rash. The severity and frequency of these episodes can vary greatly among affected individuals.

Diagnosis of mevalonate kinase deficiency can be confirmed through genetic testing, which can detect variations in the MVK gene. In addition to genetic testing, other laboratory tests may be performed to measure levels of mevalonic acid or its metabolites.

There are currently no specific treatments for mevalonate kinase deficiency, and management focuses on relieving symptoms and preventing complications. Supportive care may include the use of medications to control inflammation and fever. Close monitoring by healthcare professionals is important to manage symptoms and ensure appropriate care.

Researchers and healthcare professionals can find additional information on mevalonate kinase deficiency through resources such as scientific articles, databases, and registries. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic conditions, including mevalonate kinase deficiency. PubMed, a database of scientific articles, lists research studies and publications related to this condition. Other health databases may also have information available on mevalonate kinase deficiency.


Other Names for This Gene

This gene is also known by the following names:

  • MVK gene
  • Mevalonate kinase
  • Mevalonic aciduria, Dutch type
  • Mevalonic aciduria
  • Mevalonic aciduria, Finnish type
  • MVK1
  • Mevalonate kinase, mitochondrial
  • Mevalonate kinase, mitochondrial-like

These names refer to the same gene and are used in scientific literature, databases, and other resources for genetic testing and information.

Additional Information Resources

For more information about the MVK gene, its genetic variations, and the mevalonate pathway, you can refer to the following resources:

  • OMIM (Online Mendelian Inheritance in Man) catalog: This database provides comprehensive information about genes, genetic conditions, and their associated features.
  • Genetic Testing Registry: This registry lists various genetic tests available for different diseases, including Mevalonic Aciduria.
  • PubMed: You can search for scientific articles and publications related to the MVK gene and Mevalonic Aciduria in PubMed.
  • Databases: There are several databases available that contain information about genetic variants, such as dbSNP (Single Nucleotide Polymorphism database) and ClinVar (a database of clinically relevant genetic variants).

In addition to the above resources, you can also consult with geneticists, researchers, or healthcare professionals specialized in mevalonate pathway disorders and related conditions. They can provide you with the most up-to-date information and guide you through the testing process or treatment options.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry is a catalog of genetic tests and related information, such as the genes and conditions they are associated with. This resource provides researchers and healthcare professionals with valuable information on the different types of tests available in the field of genetics.

One of the genes listed in this registry is the MVK gene, which encodes for the mevalonate kinase enzyme. Changes in this gene can lead to mevalonic aciduria, a rare genetic condition characterized by the deficiency of mevalonate kinase.

See also  TARDBP gene

Genetic testing for the MVK gene can help identify individuals who may have mevalonic aciduria or other related conditions. The testing can detect changes or variants in the MVK gene that are associated with these diseases.

These tests provide valuable information for healthcare professionals, allowing them to develop appropriate treatment plans and provide genetic counseling for affected individuals and their families.

In addition to the MVK gene, the Genetic Testing Registry includes information on other genes and genetic conditions. The registry provides a comprehensive list of genes and their associated diseases, making it a valuable resource for researchers and healthcare professionals.

Researchers can access additional resources, such as scientific articles and references, from databases like PubMed and OMIM. These resources provide further information on the genetic changes and features associated with different genes and conditions.

The Genetic Testing Registry is an essential tool for researchers and healthcare professionals working in the field of genetics. It provides crucial information on the tests available for different genes and conditions, helping them in their research and clinical practice.

Key Features of the Genetic Testing Registry:

  • Comprehensive catalog of genetic tests
  • Information on genes and associated conditions
  • Listing of scientific articles and references
  • Access to additional resources like PubMed and OMIM

Types of Tests Available:

  1. Genetic testing for specific genes
  2. Testing for variants or changes in genes
  3. Testing for specific genetic conditions

The Genetic Testing Registry is a valuable resource for researchers and healthcare professionals involved in the study of genetics. It provides essential information on the tests available, genes associated with diseases, and additional resources for further exploration.

Scientific Articles on PubMed

In the field of genetics and health, researchers have conducted several scientific articles on the MVK gene. This gene has been identified as the lead cause of several genetic conditions, particularly those related to the mevalonate pathway. Through extensive research, scientists have discovered that changes in the MVK gene can result in the deficiency of mevalonic aciduria, a rare metabolic disorder.

Most of the articles listed on PubMed focus on the identification and testing of MVK gene variants in individuals with different types of genetic diseases. These studies aim to develop a better understanding of the gene’s role in various conditions and potentially find new treatments. The articles provide valuable information and resources for researchers, healthcare professionals, and individuals interested in genetic testing and related health issues.

The articles on PubMed also highlight the importance of connecting genetic information with clinical features. They often reference databases such as OMIM (Online Mendelian Inheritance in Man) or the Mevalonate Kinase Deficiency Registry to gather additional data and establish correlations between gene variations and disease symptoms. This approach helps in improving diagnosis, prognosis, and personalized treatment for patients with MVK-related conditions.

The scientific articles related to the MVK gene cover different aspects, including genetic testing, amino acid changes in the Mevalonate pathway, and the role of other genes in connection with MVK. They provide in-depth insights into the molecular mechanisms, pathophysiology, and potential therapeutic strategies for diseases caused by MVK gene defects.

Researchers seeking information about the MVK gene, mevalonate pathway, or specific genetic diseases can benefit significantly from access to these curated articles and their references in PubMed.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive resource that provides information on genes and diseases. It serves as a central registry for genetic testing and offers a wide range of resources for researchers, health professionals, and the general public.

See also  PLCG2 gene

The catalog includes genes and diseases related to various conditions, including the mevalonate kinase deficiency. This genetic disorder affects the mevalonate pathway, which is responsible for the production of vital molecules such as cholesterol and other fatty acids.

Within the catalog, genes and diseases are listed alphabetically and organized into different categories based on their associated conditions. By exploring the catalog, users can access detailed information on each gene and disease, including variant testing, scientific articles, and additional references.

For researchers, OMIM provides a valuable tool for studying the genetic basis of diseases. It offers a vast collection of curated information, including gene names, amino acid changes, and pathway details, that can aid in the development of tests and the understanding of underlying mechanisms.

In addition to the catalog, OMIM offers various other databases and features. These include a search function, which allows users to find specific genes or diseases, a section dedicated to patient resources and genetic testing, and links to related articles in PubMed.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, health professionals, and anyone interested in understanding the genetic basis of different conditions. It provides comprehensive information and references that can aid in diagnosis, treatment, and the advancement of scientific knowledge.

Gene and Variant Databases

Researchers and scientists rely on gene and variant databases to access information related to genetic changes and their potential impact on health and diseases. These databases serve as valuable resources for genetic testing, research, and the development of targeted therapies.

Some of the most commonly used gene and variant databases include:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genes, their associated diseases, and the genetic changes that lead to these conditions.
  • Genetic Testing Registry (GTR): GTR is a database that provides information on genetic tests available for various diseases. It includes details on the purpose of the test, the genes being tested, and the laboratory offering the test.
  • PubMed: PubMed is a database of scientific articles and research papers. It contains a vast collection of articles related to genes, variants, and their associations with different diseases.
  • GenBank: GenBank is a genetic sequence database that catalogs the DNA and RNA sequences of various organisms. It includes information on genes, genetic variants, and their corresponding amino acid sequences.

In addition to these databases, there are other resources available that provide gene and variant information, such as the Catalog of Somatic Mutations in Cancer (COSMIC) for cancer-related variants and the Human Gene Mutation Database (HGMD) for disease-causing genetic variants.

Researchers can access these databases to gather information on specific genes and variants, understand their functional significance, and explore their associations with various diseases. This knowledge is crucial for diagnosing genetic conditions, developing targeted therapies, and advancing scientific understanding of genetic pathways and deficiencies.


  • OMIM: OMIM Entry – #610377 – Mevalonic Aciduria; MEVA
  • OMIM: OMIM Entry – #610377 – Mevalonic Aciduria; MEVA
  • OMIM: OMIM Entry – #610377 – Mevalonic Aciduria; MEVA
  • OMIM: OMIM Entry – #610377 – Mevalonic Aciduria; MEVA
  • Mevalonic Aciduria: Mevalonic Aciduria – Genetic and Rare Diseases Information Center (GARD) – an NCATS Program
  • Mevalonic Aciduria: Mevalonic Aciduria – Genetics Home Reference – NIH
  • Mevalonic Aciduria: Mevalonic Aciduria – National Organization for Rare Disorders (NORD)
  • Mevalonic Aciduria: Mevalonic Aciduria – MedlinePlus Genetics
  • Mevalonic Aciduria: Mevalonic Aciduria – Orphanet
  • Mevalonic Aciduria: Mevalonic Aciduria – European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN)