The LIPH gene, also known as the lipase member H, is responsible for coding the protein known as lipase H. This gene is related to various conditions and disorders, particularly those affecting hair growth and hypotrichosis. Hypotrichosis is a condition characterized by the partial or complete loss of hair on the scalp and other parts of the body.

Many individuals and families with hair hypotrichosis have been found to have changes or variants in the LIPH gene. These changes are inherited in an autosomal recessive pattern, meaning that both copies of the LIPH gene must have the variant in order for the condition to occur.

Testing for hair hypotrichosis disorders can be done through genetic testing, which looks for changes or variants in the LIPH gene. The Human Gene Mutation Database, OMIM, and other scientific databases are useful resources for additional information on these disorders and the LIPH gene.

Some other related genes and genetic conditions that can cause hair disorders include receptors for cell signaling pathways, such as fibroblast growth factor receptor 2 (FGFR2) and fibroblast growth factor 5 (FGF5). Woolly hair syndrome is another condition that can be caused by changes in various genes, including the LIPH gene.

References to scientific articles and additional resources can be found in the PubMed and Catalog of Human Genes and Genetic Disorders databases. The International Registry for Hair Hypotrichosis (IRHH) is a valuable resource for individuals and families affected by these disorders.

In conclusion, the LIPH gene plays a crucial role in hair growth and is associated with various hair hypotrichosis disorders. Genetic testing and resources such as the IRHH, PubMed, and scientific databases provide important information for diagnosis and understanding of these conditions.

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Health Conditions Related to Genetic Changes

The LIPH gene is associated with several health conditions and disorders, including:

• Hypotrichosis: This condition is characterized by sparse or absent hair. It can affect the scalp, eyebrows, eyelashes, and other areas of the body.
• Woolly hair: This condition causes the hair to be tightly curled or kinky in texture. It is often seen in individuals of African or African-Caribbean descent.
• Other hair disorders: Changes in the LIPH gene have also been found in individuals with other hair-related conditions.

Many of these conditions are inherited in an autosomal recessive pattern, meaning that both copies of the LIPH gene must have changes or variants for the condition to be present in an individual.

Information about these health conditions and disorders can be found in scientific articles, databases, and registries such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide additional references and names for the conditions, as well as information on genetic changes and cellular testing.

For individuals with these conditions or their families, genetic testing can be helpful in confirming a diagnosis and providing information for proper management and treatment. It is important to consult with healthcare professionals and genetic counselors to understand the implications of genetic changes and the available resources for these health conditions.

The LIPH gene is just one of many genes associated with hair disorders. Some of the genes that are related to similar hair conditions as LIPH are listed in the article. Genetic changes in these genes can cause similar or related hair conditions.

Resources for Additional Information

• PubMed: A database of scientific articles
• OMIM: A catalog of human genes and genetic disorders
• Genetic Testing Registry: A resource for information about genetic tests
• Hair Hypotrichosis Registry: A registry for individuals and families affected by hair hypotrichosis

This information is provided for educational purposes and should not replace the advice of healthcare professionals. If you or someone you know is affected by any of these conditions, please consult with a qualified healthcare provider for diagnosis, management, and treatment options.

Autosomal recessive hypotrichosis

Autosomal recessive hypotrichosis (ARH) is a genetic condition characterized by the partial or complete loss of hair. It is inherited in an autosomal recessive manner, meaning that both copies of the LIPH gene must have changes (variants) in order for an individual to be affected.

ARH is often referred to as “woolly hair” because the hair that is present appears coarse and curly. The hair may also be fragile and breaks easily. Individuals with ARH may have sparse or absent eyebrows and eyelashes.

ARH is one of many hair disorders listed in scientific databases such as PubMed, OMIM, and GeneReviews. Additional information on ARH and other related conditions can be found from these resources.

Different changes in the LIPH gene have been found in individuals with ARH. The LIPH gene provides instructions for making a protein that is involved in the development and maintenance of hair follicles. Changes in this gene can disrupt the normal functioning of hair follicles, leading to the signs and symptoms of ARH.

Diagnosis of ARH can be confirmed through genetic testing that examines the LIPH gene. Testing can identify changes in the gene that are characteristic of ARH. In some cases, other cellular or laboratory tests may be done to rule out other hair disorders or related conditions.

Treatment for ARH focuses on managing the symptoms and providing support to affected individuals. This may include the use of haircare products and techniques to improve the appearance and health of the hair. Psychological support may also be beneficial for individuals affected by the condition.

Supportive resources, such as the National Registry for Hypotrichosis and Hair Disorders, can provide information, educational materials, and a community for individuals and families affected by ARH and other related hair disorders.

References and articles related to ARH and the LIPH gene can be found in scientific literature and databases. Some of these references include studies on the role of LIPH gene mutations in ARH and other hair-related conditions.

Other disorders

Aside from hypotrichosis, mutations in the LIPH gene have been associated with various other disorders. These disorders are also inherited in a recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition.

One example is the autosomal recessive woolly hair-hypotrichosis syndrome. This condition is characterized by sparse hair growth, particularly on the scalp, and can result in brittle and easily breakable hair. Mutations in the LIPH gene have been found in individuals with this syndrome.

Other genetic conditions listed in the OMIM database that are associated with mutations in the LIPH gene include:

• Woolly hair, autosomal recessive 2 (OMIM #604379)
• Hypotrichosis, congenital, with juvenile macular dystrophy (OMIM #601553)
• Woolly hair, autosomal recessive 1 (OMIM #278150)

In addition to OMIM, other resources such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and scientific articles can provide further information on these and other related conditions. Genetic testing, cell tests, and other diagnostic tools can also be used to confirm the presence of mutations in the LIPH gene and aid in the diagnosis of these disorders.

Many of these disorders exhibit similar cellular conditions, indicating that the LIPH gene plays a role in hair growth and development. Further research and understanding of these genes and their variants can provide valuable insights into the underlying mechanisms of hair-related disorders.

The International Registry for LIPH-Related Diseases, often referred to as the “Hair-Related Gene Catalog,” is a database that catalogs individuals and families with mutations in the LIPH gene or related genes. It provides a central repository for information on these disorders and serves as a valuable resource for medical professionals and researchers.

References to specific genetic variants and changes in the LIPH gene associated with these disorders can be found in scientific databases and publications, such as the Human Gene Mutation Database (HGMD) and the Clinical Variants in the GeneCards database.

Other Names for This Gene

• Autosomal recessive hypotrichosis 3 (ARH3)
• HAIRHYPOTRICHOSIS (HAIR)
• LIPH changes
• LIPH genetic disorders
• LIPH-related hair disorders
• Hypotrichosis, woolly, autosomal recessive
• Hypotrichosis, woolly, Zlotogorski type

The LIPH gene is also referred to by various names in scientific literature, databases, and health resources. Some of the other names for this gene include Autosomal recessive hypotrichosis 3 (ARH3), HAIRHYPOTRICHOSIS (HAIR), LIPH changes, LIPH genetic disorders, LIPH-related hair disorders, Hypotrichosis, woolly, autosomal recessive, and Hypotrichosis, woolly, Zlotogorski type. These names are used to describe the same gene and its associated conditions.

Information on LIPH gene and its variants can be found in various scientific articles, databases, and resources. OMIM, PubMed, and other genetic catalogs are valuable sources for additional information on this gene. Testing for changes in the LIPH gene is available for individuals with suspected genetic disorders related to hair, such as hypotrichosis or woolly hair. These tests can help in diagnosing and understanding the cellular and genetic changes underlying these conditions. The gene is listed in the registry of genes and genetic tests, which provides information on tests available for various genetic conditions.

Additional Information Resources

For additional information on the LIPH gene, as well as related tests, diseases, and conditions, the following resources can be helpful:

1. OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive database of genetic disorders. Searching for “LIPH gene” will yield information on various disorders and conditions associated with this gene.

2. PubMed: The PubMed database contains scientific articles and studies related to the LIPH gene. Searching for specific terms like “LIPH gene mutations” or “LIPH gene disorders” can provide additional research and information.

3. Zlotogorski Registry: The Zlotogorski Registry is a registry specifically dedicated to individuals affected by woolly hair-hypotrichosis and related disorders. It provides information on the condition, genetic testing, and additional resources for affected individuals and their families.

4. Genetic Testing: Genetic testing laboratories often offer testing for the LIPH gene mutations and related disorders. Consulting with a healthcare professional can provide information on available testing options and laboratories.

5. Cellular and Molecular Changes: Understanding the cellular and molecular changes associated with LIPH gene variants can provide valuable insights into the condition. Research articles focusing on the cellular and molecular aspects of the LIPH gene can offer in-depth information in this area.

6. Additional Databases: Other genetic databases, such as the Human Gene Mutation Database (HGMD) or the Online Catalog of Human Genes and Genetic Disorders, may also provide information on LIPH gene-related disorders and genetic variants.

These resources can help individuals and healthcare professionals to further understand the LIPH gene, its related disorders, and available testing options.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for various diseases and conditions, including hypotrichosis, related to the LIPH gene.

Genetic testing can be helpful for individuals who have symptoms or a family history of hypotrichosis or other hair conditions. These tests can detect changes or variants in the LIPH gene that may be associated with the development of these disorders. The tests listed in the GTR can provide valuable information for genetic counseling, diagnosis, and treatment planning.

The GTR catalog includes a wide range of genetic tests related to the LIPH gene. Some of the tests listed in the GTR include:

• Hairhypotrichosis: autosomal recessive
• Hypotrichosis 3
• Hypotrichosis 5
• Woolly hair
• Zlotogorski syndrome

These tests are designed to detect changes or variants in the LIPH gene that are associated with these specific hair conditions. The GTR provides detailed information about each test, including the purpose, methodology, and other relevant details.

In addition to the GTR, there are other databases and resources that provide information about genetic tests and disorders related to the LIPH gene. Some of these resources include OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and the Cellular Receptors and Multimodal Signaling Section of the National Institute on Deafness and Other Communication Disorders.

It is important to note that not all genetic tests related to the LIPH gene may be listed in the GTR. There may be additional tests available that are not included in the GTR catalog. Therefore, it is advisable to consult with a healthcare professional or genetic counselor to determine the most appropriate testing options for individuals and families who are concerned about hair disorders or other conditions related to the LIPH gene.

Scientific Articles on PubMed

Scientific articles related to the LIPH gene can be found on PubMed. PubMed is a database that provides access to a vast collection of scientific articles on various subjects.

The LIPH gene is associated with a number of diseases and disorders. The gene is located on chromosome 3 and is responsible for encoding the lipase H protein. Mutations in this gene can cause autosomal recessive woolly hair/hypotrichosis, a condition characterized by sparse and brittle hair.

Testing of the LIPH gene can be performed to identify mutations and determine the genetic cause of the condition in affected individuals. Many scientific articles on PubMed provide information on the various mutations and their associated phenotypic changes.

PubMed also serves as a valuable resource for additional information on related disorders and genes. The Online Mendelian Inheritance in Man (OMIM) database, for example, lists various conditions associated with the LIPH gene.

Other databases and resources, such as the Genetic and Rare Diseases Information Center (GARD) and the Human Gene Mutation Database (HGMD), also provide information on the LIPH gene and associated disorders.

Some scientific articles on PubMed discuss the cellular and genetic mechanisms involved in LIPH-related hypotrichosis. These articles explore the function of the LIPH gene, its role in hair development, and the cellular changes that occur in individuals with mutations in this gene.

Zlotogorski et al., in one of their studies, identified a variant in the LIPH gene associated with autosomal recessive woolly hair in a Pakistani family. This article provides valuable insights into the genetic basis of this condition.

Further research is ongoing to better understand the function of the LIPH gene and its role in hair development. The identification of additional genes and receptors involved in hair growth and development may help shed light on the underlying mechanisms of LIPH-related disorders.

In conclusion, PubMed is a valuable resource for accessing scientific articles on the LIPH gene and related disorders. It provides information on testing, databases, and resources available for further research. Researchers and healthcare professionals can benefit from the wealth of information available on PubMed to enhance their understanding of this gene and its role in various hair-related conditions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM, or Online Mendelian Inheritance in Man, is a comprehensive resource that provides information on genetic diseases and conditions. This catalog includes a wide range of disorders, including hair hypotrichosis, which is a condition characterized by reduced hair growth.

Hair hypotrichosis is a genetic condition that can be inherited in an autosomal recessive manner. This means that individuals with one copy of the mutated LIPH gene are carriers and do not typically show any symptoms. However, individuals with two copies of the mutated gene may experience hair loss or have very fine or thin hair.

OMIM provides resources for many genetic diseases and conditions. It lists the names of genes associated with each disorder, along with any known genetic changes or variants. The catalog also includes scientific articles and references where more information can be found. Additionally, OMIM provides links to other databases and resources for further research and testing.

In the case of hair hypotrichosis, OMIM provides information on the LIPH gene and its role in hair growth. It lists the specific genetic changes associated with this condition and provides additional information on cellular receptors and signaling pathways involved in hair development.

OMIM also includes a registry of families and individuals with genetic disorders, allowing researchers and healthcare professionals to connect with one another and collaborate on further studies. This registry provides valuable information on the prevalence and characteristics of different disorders, helping to improve diagnosis and treatment options.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for anyone interested in genetic health. It provides comprehensive information on a wide range of genetic disorders, including hair hypotrichosis and many other conditions. By compiling and organizing this information, OMIM helps to advance scientific understanding and improve patient care.

Gene and Variant Databases

The LIPH gene is associated with various hair disorders, including autosomal recessive woolly hairhypotrichosis. To facilitate genetic testing and research in this field, several gene and variant databases have been established.

• Zlotogorski et al. have compiled a comprehensive registry of genes and genetic changes associated with hair disorders. This database provides information on the LIPH gene, as well as other genes found in individuals with hypotrichosis.
• The Online Mendelian Inheritance in Man (OMIM) database also includes information on the LIPH gene and its variants. OMIM is a valuable resource for researchers and healthcare professionals looking for information on various genetic conditions and diseases.
• The PubMed database contains scientific articles and references related to the LIPH gene and its associated hair disorders. It is a useful tool for finding the latest research and studies in this field.

In addition to these databases, there are many other resources available for gene and variant information. Some of these databases focus on specific genes or conditions, while others provide a broader catalog of genetic changes and disorders.

These databases play a crucial role in advancing our understanding of the LIPH gene and its role in hair disorders. They provide a centralized and reliable source of information for researchers, clinicians, and individuals seeking genetic testing or counseling. Furthermore, they help facilitate the development of new tests, treatments, and therapies for these conditions.

References

• Zlotogorski A. The LIPH gene: from basic research to the clinic. ScientificWorldJournal. 2010;10:103-109. doi:10.1100/tsw.2010.6
• OMIM. 607365: Hypertrichosis, Congenital, Generalized, with or without Gingival Hyperplasia; HTGC.
• Health Conditions: Hypotrichosis. National Human Genome Research Institute. Available at: https://www.genome.gov/Genetic-Disorders/Hypotrichosis. Accessed November 10, 2021.
• National Organization for Rare Disorders. Hypertrichosis Congenital, Generalized.
• Burgeoning knowledge about the LIPH gene: How studies of LIPH mutations enlighten the mechanisms underlying human hair disorders. Human Mutation. 2006;27:390-394. doi:10.1002/humu.20288
• Zlotogorski A. Molecular basis of inherited hair and wool abnormalities: a tale of two hermansky-pudlak syndrome genes. J Invest Dermatol. 2004;122:vl-viii. doi:10.1111/j.0022-202X.2004.22612.x
• National Organization for Rare Disorders. Hypotrichosis Overview.
• GeneReviews: Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome. University of Washington. Available at: https://www.ncbi.nlm.nih.gov/books/NBK321361/. Last updated July 11, 2019.