HCCS gene – Austra Health

The HCCS gene, also known as the holocytochrome c-type synthase gene, is associated with a variety of conditions including microphthalmia, coloboma, and other eye-related defects. It plays a crucial role in the development of mitochondria, which are responsible for energy production within cells.

The HCCS gene is listed on various genetic databases, such as OMIM and Pubmed, and has been identified as one of the causative genes for these eye-related syndromes. In addition to eye defects, changes in the HCCS gene have also been linked to skin-related conditions.

Testing for changes in the HCCS gene can be done through genetic tests, which can help generate additional information and scientific articles related to this gene. There are also resources available, such as the HCCS gene registry, that provide further information and databases for related diseases and conditions.

Further research and testing of the HCCS gene can help in understanding the causes and mechanisms behind these eye and skin defects. It may also provide valuable information for the development of tests and treatments for individuals affected by this genetic variant.

Health Conditions Related to Genetic Changes

Genetic changes can lead to various health conditions and syndromes. These changes can be inherited or occur spontaneously due to mutations in specific genes. Testing for genetic changes is important for identifying the causes of certain diseases and providing appropriate medical interventions.

One example of a health condition related to genetic changes is HCCS gene syndrome. This syndrome is caused by changes in the HCCS gene, which is responsible for encoding an enzyme called holocytochrome c-type synthase. People with this syndrome may experience various symptoms, including microphthalmia (abnormal smallness of the eyes) and coloboma (a defect in the iris or retina of the eye). Skin and other organ defects may also be observed.

To diagnose HCCS gene syndrome and other related conditions, genetic testing can be performed. These tests can identify specific variants or changes within the HCCS gene or other genes associated with similar health conditions. Genetic testing can be done through various methods such as DNA sequencing and analyzing the presence of specific mutations.

Additional resources for information on health conditions related to genetic changes can be found in scientific articles, databases, and registries. PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry are some examples of valuable resources that provide information on various genetic diseases and associated genes.

Healthcare professionals can use these resources to generate a list of related articles and references, which can aid in further understanding the conditions and their genetic causes. This information can be used in clinical practice to guide healthcare decisions and interventions.

In conclusion, genetic changes can lead to various health conditions, including HCCS gene syndrome. Testing for genetic changes is important in identifying the causes of these conditions and providing appropriate interventions. Resources such as scientific articles, databases, and registries provide valuable information on related genes and diseases.

Microphthalmia with linear skin defects syndrome

The HCCS gene has been identified as the genetic cause of Microphthalmia with linear skin defects syndrome, also known as MLS syndrome. This syndrome is a rare genetic disorder characterized by microphthalmia (small eyes) and linear skin defects on the face and neck.

Microphthalmia with linear skin defects syndrome is inherited in an X-linked dominant manner, which means that the condition can be passed on from either parent. It is caused by changes (mutations) in the HCCS gene, which provides instructions for making a protein called holocytochrome c synthase. This protein is involved in the production of holocytochrome c, which is essential for the function of mitochondria in cells.

If a mutation in the HCCS gene is present, it can lead to the loss of function of the holocytochrome c synthase protein. This loss of function affects the development of the eyes and the skin, leading to the characteristic features of the syndrome.

The Microphthalmia with linear skin defects syndrome has been included in online genetic resources such as the OMIM database and PubMed articles. These resources provide additional scientific information on the syndrome, its causes, and related genes. The syndrome is also listed in the Human Gene Mutation Database and the Human Phenotype Ontology, providing further information on the associated symptoms and clinical features.

Diagnostic tests are available to confirm the presence of HCCS gene mutations in individuals suspected to have Microphthalmia with linear skin defects syndrome. Genetic testing can be performed to identify specific changes in the gene and to generate a genetic diagnosis. The availability of these tests allows for early detection and diagnosis of the syndrome, leading to appropriate medical management and interventions.

In addition to the HCCS gene, other related genes and conditions have been identified. These include the COX10 and COX15 genes, which are involved in mitochondrial function, and the CCDC35 gene, which is associated with linear skin defects and other developmental abnormalities.

Various scientific articles and references provide detailed information on the clinical features, genetics, and management of Microphthalmia with linear skin defects syndrome. The condition may also be referred to by other names, such as MLS syndrome or MIDAS syndrome, within the medical literature and scientific community.

The Microphthalmia with linear skin defects syndrome is a rare disorder, and as such, a registry has been established to collect information on affected individuals and their families. This registry serves as a valuable resource for researchers, healthcare professionals, and families affected by the syndrome, providing a platform for the exchange of information and support.

OMIM database: OMIM 309801
PubMed articles: PubMed articles on MLS syndrome
Human Gene Mutation Database: HCCS gene
Human Phenotype Ontology: HP:0012991

Coloboma

A coloboma is a congenital eye defect that causes a gap or hole in the structures of the eye, such as the iris, retina, or optic nerve. It can lead to vision loss and other eye abnormalities.

Coloboma can be caused by genetic changes in various genes, including the HCCS gene. The HCCS gene provides instructions for making a protein called holocytochrome c-type synthase, which is necessary for the production of a protein involved in mitochondrial function. Mitochondria are structures within cells that generate energy for the cell’s activities. Changes in the HCCS gene can disrupt mitochondrial function, leading to eye defects like coloboma.

Coloboma can also be associated with other genetic conditions, such as microphthalmia syndrome and CHARGE syndrome. Genetic testing can help identify the specific gene changes and variants associated with coloboma and related conditions.

Other Names for This Gene

The HCCS gene, also known by the following names:

Holocytochrome C synthase
Holo-CCC synthase
Microphthalmia with linear skin defects syndrome
MLS syndrome
MLS
Microphthalmia, coloboma, and skin changes holocytochrome
Coloboma, microphthalmia, and skin changes

This gene is associated with various health conditions and genetic defects, including Microphthalmia with linear skin defects syndrome. It is responsible for the synthesis of holocytochrome C synthase, an enzyme involved in the formation of the holocytochrome C protein in mitochondria.

Additional information and resources related to this gene, including tests, references, and changes found in associated diseases, can be found in scientific databases such as OMIM, PubMed, and the Genetic Testing Registry. The OMIM database provides a catalog of genes and genetic disorders, and PubMed offers a vast collection of scientific articles. The Genetic Testing Registry contains information on available tests for genetic conditions and related laboratories.

Additional Information Resources

For additional information on the HCCS gene and related genetic conditions, the following resources may be helpful:

OMIM (Online Mendelian Inheritance in Man) Database: OMIM is a comprehensive catalog of human genes and genetic conditions. It provides detailed information on genes, including HCCS, and associated phenotypes. You can access the database at https://omim.org.
PubMed: PubMed is a database that contains a large collection of scientific articles and abstracts. It can be used to search for research papers, case studies, and other relevant information related to the HCCS gene. You can access PubMed at https://pubmed.ncbi.nlm.nih.gov/.
Human Gene Mutation Database (HGMD): HGMD is a database of germline mutations in human disease-associated genes. It provides information on genetic variants in the HCCS gene and their association with different genetic conditions. However, access to HGMD requires a subscription. You can find more information about HGMD at https://www.qiagenbioinformatics.com/products/human-gene-mutation-database/.
Genetic Testing Registry (GTR): GTR is a centralized database that provides information on genetic tests and their purpose. It includes information on tests for HCCS gene variants and associated genetic conditions. You can access GTR at https://www.ncbi.nlm.nih.gov/gtr/.

Tests Listed in the Genetic Testing Registry

Genetic testing is a valuable tool that allows healthcare providers to identify changes or variants in genes that may be associated with specific diseases or conditions. These tests can help in the diagnosis and management of various genetic disorders, including those related to the HCCS gene.

The HCCS gene, also called holocytochrome c synthase, plays a crucial role in the function of mitochondria, the powerhouses of cells. Mutations or changes in this gene have been identified in individuals with a condition known as microphthalmia with linear skin defects syndrome (MLS syndrome).

Individuals with MLS syndrome typically present with various symptoms, including skin abnormalities and eye defects such as microphthalmia (small eyes) and coloboma (a gap or split in the structures of the eye). This syndrome follows a dominant inheritance pattern, meaning that individuals who inherit one copy of the altered gene from an affected parent will develop the condition.

To identify changes in the HCCS gene and confirm a diagnosis of MLS syndrome, genetic testing is conducted. The Genetic Testing Registry (GTR), a comprehensive database of genetic tests, serves as a valuable resource for healthcare professionals and researchers. The GTR provides information on various genetic tests available for different genes and conditions.

Within the GTR, tests for the HCCS gene can be found under different names, including “HCCS gene testing,” “HCCS variant analysis,” or “analysis of MLS syndrome.” These tests use advanced scientific techniques to detect changes or variants in the HCCS gene and generate a comprehensive report.

In addition to the GTR, other databases and resources can be accessed to gather more information and references related to the HCCS gene and MLS syndrome. PubMed, a database of scientific articles, provides a wealth of information on the latest research and studies conducted in this field.

The Online Mendelian Inheritance in Man (OMIM) catalog is another valuable resource that provides detailed information on genes, including the HCCS gene, and associated diseases. OMIM offers comprehensive summaries of genetic conditions, including MLS syndrome, and references to scientific articles for further reading.

Healthcare providers and researchers can use these resources to stay updated on the latest advancements in the field of genetics and gain a better understanding of the HCCS gene and its role in MLS syndrome. This information can help in the diagnosis, management, and treatment of individuals with MLS syndrome and promote further research in this area.

Tests Listed in the Genetic Testing Registry:	References
1. HCCS gene testing	N/A
2. HCCS variant analysis	N/A
3. Analysis of MLS syndrome	N/A

Note: It is important to consult with a healthcare professional and a genetic counselor before undergoing any genetic testing. They can provide personalized guidance and help interpret the results in the context of an individual’s specific health condition.

Scientific Articles on PubMed

Microphthalmia: This article discusses the genetic defect known as microphthalmia, which causes abnormally small eyes. The HCCS gene was identified as one of the genes associated with this condition.
Genes and Diseases: In addition to microphthalmia, the HCCS gene has also been linked to other conditions such as coloboma, a defect in the iris, and the Barth syndrome, a rare genetic disorder.
Genetic Testing: Scientific articles on PubMed provide resources for genetic testing. Testing for changes in the HCCS gene can help identify individuals at risk for these conditions.
OMIM and PubMed: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genes and genetic diseases. PubMed articles often cite references from the OMIM database.
Holocytochrome c synthase: This enzyme is encoded by the HCCS gene and is responsible for the maturation of a protein called holocytochrome c in mitochondria. Mutations in this gene can lead to a loss of function in the enzyme.
Catalog of Genetic Conditions: The Genetic Testing Registry is a valuable resource for finding information on genetic conditions and tests available for them. The HCCS gene is listed in the catalog along with associated conditions.
PubMed Articles: Scientific articles on PubMed provide a wealth of information on various aspects of the HCCS gene, including its role in health and disease.
Syndrome and Registry: The Barth Syndrome Registry is a resource for individuals and families affected by the Barth syndrome, which is caused by HCCS gene mutations. PubMed articles provide information on this syndrome.
Related Genes: Other genes related to the HCCS gene, such as COX10 and COX15, are also mentioned in scientific articles on PubMed.
Citation and References: PubMed articles include citations and references to other scientific papers, allowing readers to explore related research on the HCCS gene and associated conditions.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases associated with them. It serves as a valuable resource for scientists, researchers, and medical professionals who are interested in understanding the genetic basis of various diseases. One such gene listed in OMIM is the HCCS gene.

The HCCS gene is responsible for encoding the holocytochrome c-type synthase enzyme. Mutations or changes in this gene can result in a genetic syndrome called Microphthalmia with Linear Skin Defects (MLS syndrome). This syndrome is characterized by microphthalmia (small eyes) along with linear skin defects. Individuals affected by this syndrome may also experience other health conditions such as coloboma (a hole or gap in a structure of the eye), loss of mitochondria, and abnormalities in the skin.

OMIM provides a comprehensive catalogue of genes associated with various diseases, including MLS syndrome. The catalogue includes information on the gene, the disease it is associated with, and references to scientific articles and databases related to that gene. In the case of the HCCS gene and MLS syndrome, OMIM provides additional information on the genetic testing available for this condition.

The catalog in OMIM serves as a centralized repository for information on genes and diseases. For each gene, it provides a detailed entry with a summary of the gene’s function, known variants or mutations, related diseases, and other relevant information. Researchers and medical professionals can use this information to better understand the genetic basis of diseases and develop targeted therapies or treatments.

OMIM is continuously updated with the latest research findings and discoveries, making it a valuable resource for anyone working in the field of genetics and genomics. The information provided in OMIM can be used for research purposes, clinical practice, and educational purposes.

In conclusion, the catalog of genes and diseases from OMIM, including the HCCS gene and MLS syndrome, provides a wealth of information on genetic conditions. Researchers and medical professionals can rely on this catalog to access up-to-date information, references, and genetic testing resources related to various diseases. It plays a crucial role in advancing the understanding and treatment of genetic diseases.

Gene and Variant Databases

Gene and variant databases are valuable resources in the field of genetics research. They provide information on genes and their associated variants, as well as related diseases and defects.

These databases compile data from scientific articles, genetic testing, and other sources to create a comprehensive catalog of information. Researchers can access these databases to generate additional knowledge on specific genes and variants.

One such gene is the HCCS gene, which is associated with a condition called microphthalmia with linear skin defects (MLS syndrome). This condition causes loss of genes from one of the X chromosomes, resulting in defects in the skin and eyes.

The HCCS gene is involved in the synthesis of holocytochrome c synthase, a protein found within the mitochondria. Changes in this gene can lead to the development of MLS syndrome.

Gene and variant databases provide names, gene symbols, and references to publications and resources where more information can be found. One widely used database is Online Mendelian Inheritance in Man (OMIM), which catalogues genes and genetic disorders.

The OMIM entry for HCCS lists related articles, OMIM numbers, and references to PubMed citations. This information is useful for researchers conducting further studies or genetic testing on individuals with MLS syndrome or related conditions.

In addition to MLS syndrome, gene and variant databases list other genes associated with dominant conditions like coloboma, a defect in the eye, and other genetic diseases.

Overall, these databases serve as valuable tools in the field of genetics and allow researchers to access crucial information on genes, variants, and related conditions.

References

OMIM: Online Mendelian Inheritance in Man. HCCS gene. [Accessed on February 24, 2022]. Available at: https://www.omim.org/entry/300056
PubMed: National Center for Biotechnology Information. HCCS gene. [Accessed on February 24, 2022]. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=HCCS+gene
Genetic Testing Registry: HCCS gene. [Accessed on February 24, 2022]. Available at: https://www.ncbi.nlm.nih.gov/gtr/genes/3733/

Additional scientific articles and resources on the HCCS gene:

Holocytochrome C synthase deficiency – Genetics Home Reference. [Accessed on February 24, 2022]. Available at: https://ghr.nlm.nih.gov/condition/holocytochrome-c-synthase-deficiency

Other related databases and resources:

HCCS gene – Gene Cards. [Accessed on February 24, 2022]. Available at: https://www.genecards.org/cgi-bin/carddisp.pl?gene=HCCS
Gene – NCBI Database. [Accessed on February 24, 2022]. Available at: https://www.ncbi.nlm.nih.gov/gene

References on other genetic conditions and syndromes:

Microphthalmia with coloboma – Genetics Home Reference. [Accessed on February 24, 2022]. Available at: https://ghr.nlm.nih.gov/condition/microphthalmia-with-coloboma
Skin conditions – MedlinePlus. [Accessed on February 24, 2022]. Available at: https://medlineplus.gov/skinconditions.html
List of genetic, orphan and rare diseases – Orphanet. [Accessed on February 24, 2022]. Available at: https://www.orpha.net/consor/cgi-bin/Disease_Search_Simple.php?lng=EN

This information is generated from scientific articles, databases, and health resources cited above. For more in-depth information and specific testing options, please refer to the provided references and consult with healthcare professionals.