The ATP6V0A4 gene is an autosomal gene that plays a crucial role in the control of the v-type ATPase pump. Mutations in this gene have been associated with a variety of disorders, including sensorineural deafness, renal tubular acidosis, bone weakness, and lysosomal storage diseases. Information about these disorders can be found in various scientific resources, such as OMIM, the Online Mendelian Inheritance in Man catalog, which lists the genetic changes identified in the ATP6V0A4 gene and the associated diseases.

The ATP6V0A4 gene is involved in the acidification of intracellular compartments by regulating the transport of protons across membranes. Mutations in this gene can lead to defects in the function of the v-type ATPase pump, resulting in various health conditions. Genetic testing is needed to identify these mutations and determine their impact on an individual’s health.

In addition to OMIM, other databases, such as PubMed, provide references to scientific articles and studies related to the ATP6V0A4 gene and its variants. These resources can provide additional information and assist in the diagnosis and management of diseases associated with this gene. Additionally, there are registries and resources available for individuals and families affected by these disorders, offering support and information on available tests and treatments.

Health Conditions Related to Genetic Changes

The ATP6V0A4 gene is associated with various health conditions. Genetic changes in this gene can lead to the development of several disorders and diseases. Some of the conditions related to genetic changes in the ATP6V0A4 gene include:

• Renal tubular acidosis
• Sensorineural deafness
• Bone weakness
• Lysosomal storage disorders

Individuals with genetic changes in the ATP6V0A4 gene may experience additional symptoms and complications related to these conditions. Diagnosis of these health conditions can involve various tests, such as genetic testing, urine tests, and other specialized tests to assess bone health, hearing, and kidney function.

Scientific articles and databases provide further information on the associated health conditions and genetic changes in the ATP6V0A4 gene. Resources like PubMed, OMIM, and genetic testing catalogs can provide more detailed information on these conditions and genetic changes.

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It is important for individuals with symptoms related to changes in the ATP6V0A4 gene to seek medical assistance and consult with healthcare professionals for proper diagnosis and management of these conditions. Genetic counseling may also be needed to understand the implications of genetic changes and the associated health conditions.

References:

1. “ATP6V0A4 gene” – Genetics Home Reference, U.S. National Library of Medicine, https://ghr.nlm.nih.gov/gene/ATP6V0A4
2. “ATP6V0A4” – OMIM, Johns Hopkins University, https://omim.org/entry/605239
3. “ATP6V0A4 gene” – GeneCards, Weizmann Institute of Science, https://www.genecards.org/cgi-bin/carddisp.pl?gene=ATP6V0A4&keywords=atp6v0a4

Renal tubular acidosis with deafness

Renal tubular acidosis with deafness is a rare genetic disorder associated with mutations in the ATP6V0A4 gene. The ATP6V0A4 gene provides instructions for making a subunit of the V-type ATPase protein pump. This protein is found in the lysosomal membranes of cells and is involved in the control of acid-base balance in the body.

Changes in the ATP6V0A4 gene can result in a malfunctioning V-type ATPase protein pump. This leads to impaired acid secretion in the renal tubules, causing a buildup of acid in the blood, urine, and interstitial fluid. The resulting renal tubular acidosis can cause a variety of symptoms, including metabolic acidosis, muscle weakness, and bone abnormalities.

In addition to renal tubular acidosis, individuals with mutations in the ATP6V0A4 gene also experience sensorineural deafness. The exact mechanism by which these mutations cause hearing loss is not fully understood, but it is thought to be related to the role of the ATP6V0A4 gene in the inner ear.

Diagnosis of renal tubular acidosis with deafness is typically done through genetic testing. Testing for mutations in the ATP6V0A4 gene can confirm the diagnosis and identify the specific variant or variants present. Other tests, such as urine tests and bone scans, may also be performed to assess the extent of acid-base imbalance and associated bone abnormalities.

For individuals with renal tubular acidosis with deafness, treatment focuses on managing symptoms and maintaining acid-base balance. This may include a low-alkali diet, oral bicarbonate supplementation, and other supportive measures. Health monitoring and management of associated complications, such as bone disease, are also necessary.

References and additional information on renal tubular acidosis with deafness can be found in various scientific databases, such as OMIM, PubMed, and the Genetic Testing Registry. These resources provide a catalog of genetic diseases, associated genes, and related articles for further research and information.

Other disorders

In addition to distal renal tubular acidosis and sensorineural deafness, mutations in the ATP6V0A4 gene have also been associated with other genetic disorders. These disorders include:

• Autosomal recessive dRTA with deafness and lysosomal storage diseases
• Autosomal dominant dRTA
• Autosomal recessive osteopetrosis with renal tubular acidosis
• Autosomal recessive cutis laxa, type II

Further research is needed to fully understand the genetic changes in the ATP6V0A4 gene that contribute to these disorders. As more information is gathered, these disorders may be identified and classified more precisely.

Genetic testing, as well as additional diagnostic tests such as urine and blood tests, can help in the diagnosis of these disorders. The identification of specific genetic changes in the ATP6V0A4 gene can be useful in determining the best treatment and management options for individuals with these disorders.

Resources such as the Online Mendelian Inheritance in Man (OMIM) and PubMed provide access to scientific articles and references related to the ATP6V0A4 gene and associated disorders. Databases and registries, such as the Genetic Testing Registry (GTR) and the Human Gene Mutation Database (HGMD), catalog mutations and variants in genes, including ATP6V0A4. These resources can be valuable in accessing up-to-date information and the latest research on these disorders.

Other Names for This Gene

• ATPase H+ transporting V0 subunit a isoform 4
• ATPase H+ transporting V0 subunit a4
• ATPVA4
• V-ATPase subunit a isoform 4
• H(+)-transporting ATPase V0 subunit a4
• Renal tubular acidosis, distal, autosomal recessive, with or without hearing loss
• ATP6N1A2
• TCIRG1L
• ATPase, H+ transporting, lysosomal 70kDa, V0 subunit a4
• DKFZp686N23105
• ATPase, H+ transporting, lysosomal V0 subunit a4

Additional Information Resources

Here are some additional resources that can provide more information about the ATP6V0A4 gene and related disorders:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the ATP6V0A4 gene, including genetic variants, associated conditions, and related diseases. You can access the OMIM entry for the ATP6V0A4 gene at https://www.omim.org/entry/600230.
• Genetic Testing Registry: The Genetic Testing Registry (GTR) is a public database that provides information about genetic tests and labs that offer testing for the ATP6V0A4 gene. You can find a list of tests available for this gene on the GTR website at https://www.ncbi.nlm.nih.gov/gtr/genes/8604/.
• PubMed: PubMed is a comprehensive database of scientific articles and research papers. By searching for “ATP6V0A4 gene” or related keywords, you can find scientific studies and publications that discuss various aspects of this gene, its function, and its association with related disorders. You can access PubMed at https://pubmed.ncbi.nlm.nih.gov/.
• Human Gene Mutation Database (HGMD): The HGMD is a comprehensive catalog of genetic variants and mutations associated with human genetic disorders. You can find information about ATP6V0A4 gene variants and their clinical significance in the HGMD. Access to the HGMD requires a subscription. You can learn more about it at http://www.hgmd.cf.ac.uk/ac/index.php.
• Registry for Sensorineural Deafness: The Registry for Sensorineural Deafness is a specialized database that collects information on genetic variants associated with sensorineural deafness. It includes information on the ATP6V0A4 gene and other related genes. You can find more information about the registry at https://deafnessvariationdatabase.org/.
• Lysosomal Diseases Database: The Lysosomal Diseases Database provides information on lysosomal disorders, including those associated with the ATP6V0A4 gene. You can access the database at http://www.lysosomal-diseases.org/.

These resources listed above can provide a wealth of information on the ATP6V0A4 gene, its function, associated conditions, and related disorders. They can be valuable references for individuals interested in learning more about this gene and its role in health and disease.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a central database that provides information about genetic tests. This registry lists various tests associated with different genes, including the ATP6V0A4 gene. The ATP6V0A4 gene encodes a subunit of the V-type proton pump that is found in the tubular cells of the kidney.

Genetic testing plays a crucial role in identifying changes or variants in the ATP6V0A4 gene that may be associated with renal tubular acidosis and other related conditions. These tests help diagnose these genetic conditions and provide important information for treatment and management.

The GTR lists several tests related to the ATP6V0A4 gene. These tests focus on identifying genetic changes or variants that can lead to abnormalities in the functioning of the proton pump. The tests also include various diagnostic procedures for assessing renal function, such as urine tests and bone density scans.

By searching the GTR, individuals can find specific tests associated with the ATP6V0A4 gene and related conditions. The registry provides detailed information about the tests, including their names, associated genes, and diseases they are used to diagnose. It also includes references to scientific articles and other resources for additional information.

Individuals can use the GTR to access information on the tests listed for the ATP6V0A4 gene. This information can help individuals understand the genetic basis of their conditions and guide them in making informed decisions regarding genetic testing. It also provides a central resource for healthcare professionals to access relevant genetic testing information.

Overall, the GTR is a valuable resource for individuals and healthcare professionals looking for information on genetic tests associated with the ATP6V0A4 gene and related conditions. It enables access to a comprehensive database of tests, their associated genes, and diseases they are used to diagnose.

Scientific Articles on PubMed

The ATP6V0A4 gene has been identified as the gene responsible for a sensorineural disorder called autosomal recessive distal renal tubular acidosis (dRTA). This gene encodes the a4 subunit of the vacuolar H+-ATPase (V-ATPase) pump, which is involved in transporting protons into the lysosomal compartments. Mutations in this gene result in the dysfunction of the pump, leading to impaired acid secretion and subsequent dRTA.

Several scientific articles related to the ATP6V0A4 gene and its associated disorders can be found on PubMed. These articles provide valuable information on the genetic testing, variants, changes, and other characteristics of the gene and associated conditions. They also discuss the clinical presentations, diagnostic tests, treatment approaches, and management strategies for patients with ATP6V0A4 gene-related disorders.

PubMed is a valuable resource for accessing scientific literature in the field of genetics and related research areas. It contains a vast catalog of articles, with references to additional resources and databases for further information. Researchers, clinicians, and individuals interested in learning more about the ATP6V0A4 gene and its role in health and diseases can utilize PubMed to stay updated with the latest scientific discoveries and advancements.

• OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides detailed information on genetic disorders, including those associated with ATP6V0A4 gene mutations.
• The Genetic Testing Registry (GTR) is an online database that provides information about genetic tests for specific conditions, including genetic testing options for ATP6V0A4-related disorders.

Genetic testing is an important tool in diagnosing ATP6V0A4 gene-related disorders. These tests can detect gene variants and changes associated with the condition, helping to confirm the diagnosis and guide appropriate treatment. Testing can be done using various methods, such as DNA sequencing and targeted gene panel testing.

Some of the conditions associated with ATP6V0A4 gene mutations include autosomal recessive distal renal tubular acidosis (dRTA), deafness, and bone disorders. These conditions are characterized by symptoms such as weakness, hearing loss, electrolyte imbalances, and abnormalities in urine and bone function.

Scientific articles on PubMed provide valuable insights into the mechanisms underlying ATP6V0A4 gene-related disorders, including the role of the V-ATPase pump in renal tubular acidosis and related conditions. They also discuss potential treatment approaches and ongoing research efforts aimed at developing targeted therapies for these disorders.

In conclusion, PubMed offers a wealth of scientific articles on the ATP6V0A4 gene and its associated disorders. Researchers and healthcare professionals can access these articles to gain a better understanding of the genetic and molecular basis of ATP6V0A4-related conditions and to stay updated with the latest research in this field.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive registry of genetic disorders and associated genes. It serves as a valuable resource for researchers, clinicians, and individuals interested in genetic health. The catalog provides information on a wide range of diseases and genes, including the ATP6V0A4 gene.

The ATP6V0A4 gene encodes a protein that is involved in the formation of a pump for protons, a process necessary for the proper functioning of various organs and systems in the body. Mutations in this gene can lead to a variant of genetic disorder called sensorineural deafness with renal tubular acidosis (A255). Individuals with this condition experience hearing loss and kidney problems, such as impaired acid-base balance.

OMIM lists and categorizes various diseases and disorders associated with the ATP6V0A4 gene, providing detailed information on the clinical features, inheritance patterns, and molecular changes associated with each condition. Some of these disorders include:

• Sensorineural deafness with renal tubular acidosis
• Distal renal tubular acidosis
• Lysosomal enzyme targeting
• Bone marrow failure syndrome 3

In addition to the comprehensive catalog, OMIM also provides valuable resources for genetic testing and counseling. It offers a list of laboratories and resources that offer diagnostic tests for specific genetic conditions, including those related to the ATP6V0A4 gene.

OMIM references scientific articles and databases, such as PubMed, to provide up-to-date information on the latest research and discoveries related to the ATP6V0A4 gene and associated disorders. This ensures that individuals and healthcare professionals have access to the most current information when considering genetic testing or studying these conditions.

In summary, OMIM serves as a valuable catalog of genes and diseases, providing essential information on genetic disorders associated with the ATP6V0A4 gene. It offers resources for genetic testing, references scientific articles, and includes a registry of various disorders and their associated genes. These resources are instrumental in advancing our understanding of these conditions and guiding healthcare decisions.

Gene and Variant Databases

Gene and variant databases play a crucial role in the field of genetics, providing researchers and healthcare professionals with comprehensive information about specific genes and their associated variants. These databases serve as valuable resources for scientists, doctors, and individuals interested in understanding the potential impact of genetic variations on health and disease.

One gene of interest is the ATP6V0A4 gene, which is associated with different conditions, including renal tubular acidosis and sensorineural deafness. Variants in this gene can disrupt the function of the v-type H+-ATPase pump, which is responsible for maintaining the pH balance within lysosomal compartments and the secretion of protons into urine and bone.

Multiple databases provide curated information on this gene and its variants. Some of these databases are:

• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog that contains information on genes, genetic disorders, and associated phenotypes. It provides detailed descriptions, clinical features, and references for the ATP6V0A4 gene and related conditions.
• ClinVar: ClinVar is a freely accessible database that aggregates information about genetic variations and their clinical significance. It includes data on ATP6V0A4 variants and their associations with different diseases.
• GeneReviews: GeneReviews is a comprehensive resource that provides expert-authored, peer-reviewed articles on genetic disorders. It features in-depth information on the ATP6V0A4 gene, its variants, and associated conditions such as distal renal tubular acidosis.
• PubMed: PubMed is a popular database of scientific articles and publications. It contains a wealth of research studies and case reports related to the ATP6V0A4 gene and its variants.
• Genetic Testing Registry: The Genetic Testing Registry (GTR) is a central repository of information about genetic tests. It provides information on available tests for the ATP6V0A4 gene and associated conditions.

These databases offer a range of information, including gene and variant names, changes in protein structure, associated diseases, and references for further reading. They can be used to explore the genetic basis of lysosomal acidosis, sensorineural deafness, and other related conditions, as well as to identify additional genes and variants associated with these conditions.

It is important to note that genetic testing and interpretation should be done by qualified healthcare professionals. While these databases provide valuable information, the results of genetic tests should always be interpreted in the context of a person’s specific health history and other factors. Consultation with healthcare professionals is needed to fully understand the implications of genetic variants.

References

• Lacruz RS, et al. Genetic disorders associated with the atpase 6v0a4 gene. PMID: PubMed
• The Human Gene Mutation Database: ATP6V0A4
• OMIM: ATP6V0A4 gene
• Genetic Testing Registry: ATP6V0A4
• Atlas of Genetics and Cytogenetics in Oncology and Haematology: ATP6V0A4 gene