Hepatic lipase deficiency is a rare genetic disease caused by mutations in the LIPC gene. This deficiency leads to the accumulation of high levels of triglycerides in the blood, resulting in various health problems.

Information about this condition can be found on the OMIM database, which provides scientific articles, references, and resources for learning more about rare diseases and their associated genes. The inheritance pattern of hepatic lipase deficiency is unclear, and additional testing may be necessary to confirm the genetic cause.

The frequency of hepatic lipase deficiency in the general population is unknown. The Genetic Testing Registry provides support for genetic testing and advocacy for patients with rare diseases like hepatic lipase deficiency.

Other names for hepatic lipase deficiency include HDL deficiency and LIPC deficiency. The liver is primarily responsible for producing hepatic lipase, hence the name of the disease. The exact causes of hepatic lipase deficiency are still being studied, and more research is needed to understand the underlying mechanisms.

References:

1. OMIM: Hepatic Lipase Deficiency

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2. Genetic Testing Registry: Hepatic Lipase Deficiency

3. PubMed: Hepatic Lipase Deficiency

In conclusion, hepatic lipase deficiency is a rare genetic disease with high levels of triglycerides in the blood. More research and testing are needed to fully understand its inheritance pattern and genetic causes. The resources provided by OMIM, the Genetic Testing Registry, and PubMed are valuable for gathering information about this condition and supporting patients and their families.

Frequency

Hepatic lipase deficiency (HLD) is a rare genetic condition with a high frequency of scientific support. It is associated with rare diseases and is often diagnosed through genetic testing. Many articles and scientific resources, such as the OMIM database, provide additional information about this condition.

It is unclear how common HLD is in the general population, but it is believed to be a rare condition. The inheritance pattern and causes of HLD are still being studied and understood by the scientific community.

The Genetic and Rare Diseases (GARD) Information Center is a valuable resource for patients and advocates to learn more about HLD and related genetic conditions. They provide genetic counseling, advocacy, and support to individuals and families affected by HLD.

For more information on the genetic basis of HLD, the LIPC gene (also known as hepatic lipase gene) is associated with this condition. Additional genes and genetic factors may also contribute to the development of HLD, but further research is needed to fully understand their role.

Citation names and references for articles about HLD can be found in resources such as PubMed. These sources provide more information on the diagnosis, symptoms, and treatment options for individuals with HLD.

Causes

Hepatic lipase deficiency (HLD) is a rare genetic condition that results from mutations in the LIPC gene. This gene provides instructions for making hepatic lipase, an enzyme that plays a crucial role in lipid metabolism within the liver.

Mutations in the LIPC gene lead to a decrease or complete absence of hepatic lipase activity, causing abnormal lipid levels in the blood. This condition is inherited in an autosomal recessive manner, which means that both copies of the LIPC gene must be mutated to develop HLD.

HLD can also be associated with certain diseases and conditions, including high triglyceride levels, low HDL cholesterol levels, and increased risk of cardiovascular disease. However, the exact relationship between these conditions and hepatic lipase deficiency is still unclear, and further research is needed.

The diagnosis of HLD is typically made through genetic testing, which can identify mutations in the LIPC gene. In some cases, additional testing, such as blood lipid profiles, may be performed to determine the severity of the condition and evaluate the cardiovascular risk.

There are currently no specific treatments for hepatic lipase deficiency. Management involves controlling the associated conditions, such as maintaining a healthy diet, engaging in regular physical activity, and monitoring lipid levels. Genetic counseling may also be recommended for affected individuals and their families.

For more information about hepatic lipase deficiency, genetic testing, and other related topics, the following resources may be helpful:

• OMIM (Online Mendelian Inheritance in Man) – Provides comprehensive information about the LIPC gene, HLD, and related disorders. Available at https://www.omim.org/.
• Genetic and Rare Diseases Information Center (GARD) – Offers a wide range of information and support for individuals with rare genetic conditions. Available at https://rarediseases.info.nih.gov/diseases/6584/hepatic-lipase-deficiency.
• PubMed – Provides scientific articles, research papers, and case studies on hepatic lipase deficiency and its associated conditions. Available at https://pubmed.ncbi.nlm.nih.gov/.
• LIPC Gene – GeneCards – A comprehensive catalog of information about the LIPC gene, including its functions, genetic variants, and associated diseases. Available at https://www.genecards.org/cgi-bin/carddisp.pl?gene=LIPC.
• LIPC – Lipase C, Hepatic Type – Further details on the LIPC gene, its genetic variants, and the diseases associated with its mutations. Available at https://www.ncbi.nlm.nih.gov/gene/3990.

These resources provide information for patients, caregivers, and healthcare professionals to learn more about hepatic lipase deficiency and its causes. They also offer support and advocacy for individuals affected by this rare genetic condition.

Learn more about the gene associated with Hepatic lipase deficiency

Hepatic lipase deficiency (HLD), also known as HDL deficiency, is a rare genetic condition that affects the liver and causes low levels of high-density lipoproteins (HDLs) in the blood. HDLs are responsible for removing cholesterol from the bloodstream, so a deficiency in this protein can lead to an increased risk of cardiovascular diseases.

The gene associated with Hepatic lipase deficiency is called LIPC, which stands for lipase, hepatic. This gene provides instructions for making the hepatic lipase enzyme, which plays a crucial role in the breakdown of triglycerides and other lipids in the liver. Mutations in the LIPC gene can lead to a decrease in hepatic lipase activity, resulting in lower levels of HDLs.

While the exact frequency of LIPC gene mutations in the general population is unclear, genetic testing of patients with HDL deficiency has identified mutations in the LIPC gene in some cases. Scientific articles and studies published in PubMed have provided additional information on the association between LIPC gene mutations and Hepatic lipase deficiency.

For more information on the LIPC gene and Hepatic lipase deficiency, you can visit the OMIM (Online Mendelian Inheritance in Man) database or the Genetic Testing Registry, both of which provide comprehensive resources on genetic conditions and associated genes. Additionally, advocacy organizations such as the Genetic and Rare Diseases Information Center (GARD) can offer support and information for patients and their families.

Inheritance

Hepatic lipase deficiency (HLD) is a rare genetic condition caused by mutations in the LIPC gene. The LIPC gene provides instructions for making an enzyme called hepatic lipase. This enzyme helps regulate the levels of fats, including cholesterol and triglycerides, in the blood. Mutations in the LIPC gene can lead to a deficiency or decrease in the production of hepatic lipase, resulting in high levels of triglycerides and low levels of high-density lipoproteins (HDLs) in the blood. HDLs are often referred to as “good” cholesterol because they help remove cholesterol from the blood.

The inheritance pattern of hepatic lipase deficiency is unclear. Some studies suggest that it may be inherited in an autosomal recessive manner, which means that both copies of the LIPC gene in each cell have mutations. However, other studies have reported cases of HLD where only one copy of the gene is affected.

Additional research is needed to better understand the genetic basis of hepatic lipase deficiency and its inheritance pattern. Genetic testing can be used to confirm a diagnosis of HLD and to identify specific LIPC gene mutations in affected individuals.

It is important to note that hepatic lipase deficiency is a rare condition and may not be the cause of high triglyceride levels or other lipid disorders in most individuals. Other genetic and environmental factors can also contribute to the development of these conditions.

For more information about hepatic lipase deficiency and its genetic causes, the following resources may be helpful:

• The Online Mendelian Inheritance in Man (OMIM) catalog: This database provides detailed information about genetic conditions, including HLD, and the specific genes and mutations associated with them.
• The National Organization for Rare Disorders (NORD): This advocacy and patient support organization offers information and resources for individuals and families affected by rare diseases, including hepatic lipase deficiency.
• The Genetic and Rare Diseases Information Center (GARD): This resource provides information on a wide range of genetic conditions, including HLD, and offers links to genetics research and clinical trials.
• The scientific literature: PubMed and other scientific article databases can provide more in-depth information on the genetic basis, clinical features, and management of hepatic lipase deficiency. Citation references and links to full articles can usually be found on these platforms.

Other Names for This Condition

• Hepatic lipase deficiency
• High-density lipoprotein deficiency
• HDL deficiency
• Hepatic lipase gene mutations
• LIPC deficiency
• Rare lipid disorder
• Triglyceride-centered HDL deficiency

In scientific literature, Hepatic Lipase Deficiency is referred to by several names:

1. Pubmed: Several articles on hepatic lipase deficiency can be found on PubMed, which is a database of scientific articles.
2. Scientific Catalog: The scientific catalog contains references to hepatic lipase deficiency and related research articles.
3. OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic conditions, including hepatic lipase deficiency.
4. LIPC gene mutations: Hepatic lipase deficiency is caused by mutations in the LIPC gene.
5. Rare genetic disease: Hepatic lipase deficiency is a rare genetic disease with unclear frequency.
6. Genetic testing: Genetic testing can be done to confirm the diagnosis of hepatic lipase deficiency.

For more information on Hepatic Lipase Deficiency, you can visit the following resources:

• PubMed: Learn more about the disease through scientific articles.
• Genetics Home Reference: Provides comprehensive information on genetic conditions including hepatic lipase deficiency.
• Online Mendelian Inheritance in Man (OMIM): OMIM provides genetic information and references on hepatic lipase deficiency.
• National Lipid Association: Provides advocacy and patient resources on lipid disorders.

Additional Information Resources

Here are some additional resources where you can learn more about Hepatic Lipase Deficiency and related genetic diseases:

• Genetic Testing and Counseling: This resource provides information about the frequency and inheritance of genetic diseases, including Hepatic Lipase Deficiency. You can learn more about testing options and genetic counseling support. Visit Genetic Testing and Counseling for more information.
• OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. It contains detailed information about the genetic causes and associated symptoms of Hepatic Lipase Deficiency. Check the entry on OMIM for Hepatic Lipase Deficiency at OMIM Hepatic Lipase Deficiency.
• PUBMED: PUBMED contains scientific articles and publications on various genetic diseases, including Hepatic Lipase Deficiency. You can find more research and studies about this condition by searching for “Hepatic Lipase Deficiency” on PUBMED.
• LIPC Gene: LIPC is the gene associated with Hepatic Lipase Deficiency. Learn more about the function and role of LIPC gene in this condition at LIPC Gene.
• Advocacy and Support: There are advocacy organizations that provide support and resources for patients and families affected by rare genetic diseases. Visit National Organization for Rare Disorders (NORD) and Genetic Alliance to learn more about advocacy and support services available.
• Scientific Articles and References: For more in-depth scientific articles and references about Hepatic Lipase Deficiency and related topics, you can explore the articles referenced in this article and search for relevant studies in scientific journals.

Genetic Testing Information

Genetic testing can provide important information for individuals with Hepatic lipase deficiency. It can help identify the genetic causes of the disease and provide additional insights into the inheritance patterns, as well as other associated genes and diseases.

There is limited information available about the genetic causes of Hepatic lipase deficiency. According to the scientific literature available on PubMed, the condition is associated with mutations in the LIPC gene. However, more research is needed to fully understand the genetic basis of this rare condition.

Genetic testing for Hepatic lipase deficiency can be performed at specialized genetics centers or laboratories. This testing can help determine the frequency of specific mutations in the LIPC gene and provide important information for patient management.

Resources for genetic testing and support can be found through advocacy organizations and genetic disease centers. These resources can provide more information about the testing process, associated genes and diseases, and support services available to patients and their families.

For more information about Hepatic lipase deficiency and genetic testing, you can visit the following resources:

• PubMed: A scientific database with articles on various genetic diseases.
• OMIM: An online catalog of human genes and genetic disorders.
• Advocacy organizations: These organizations provide support and information for patients and their families.

It is important to note that the information available on genetic causes and testing for Hepatic lipase deficiency may be limited and unclear. Ongoing scientific research is necessary to fully understand the condition and its genetic basis.

Genetic and Rare Diseases Information Center

Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information about genetic and rare diseases. GARD aims to help individuals and families understand these diseases, find out about available resources and support, and learn about ongoing research and clinical trials.

Hepatic lipase deficiency is a rare genetic condition that affects the liver’s ability to break down fats. It is unclear how frequently this condition occurs, as it is considered to be extremely rare.

Individuals with hepatic lipase deficiency have a deficiency of the hepatic lipase enzyme, which is responsible for breaking down triglycerides and high-density lipoproteins (HDLs) in the liver. This deficiency can lead to abnormally high levels of triglycerides and HDLs in the blood.

The gene that causes hepatic lipase deficiency is called the LIPC gene. This gene provides instructions for making the hepatic lipase enzyme. Mutations in the LIPC gene can impair the production or function of this enzyme, leading to the development of hepatic lipase deficiency.

Hepatic lipase deficiency is inherited in an autosomal recessive manner, which means that an individual must inherit the mutated gene from both parents to develop the condition. If an individual inherits only one mutated gene, they are considered carriers of the condition and typically do not show any symptoms.

There is currently no specific treatment for hepatic lipase deficiency. Management strategies focus on controlling symptoms and reducing the risk of complications, such as heart disease. This may involve lifestyle modifications, such as maintaining a healthy diet and engaging in regular physical activity.

Genetic testing can be used to confirm a diagnosis of hepatic lipase deficiency. Testing may involve analyzing the LIPC gene for mutations or measuring the level of hepatic lipase enzyme activity in the blood.

For more information about hepatic lipase deficiency and other genetic and rare diseases, you can visit the GARD website at https://rarediseases.info.nih.gov/. GARD provides a comprehensive catalog of articles that cover a wide range of genetic and rare diseases. The website also offers resources for patient advocacy groups, scientific publications from PubMed and OMIM, and information on genetic testing.

Patient Support and Advocacy Resources

Patient support and advocacy resources play a crucial role in providing information and assistance to individuals and families affected by rare conditions such as Hepatic Lipase Deficiency. As this condition is rare and its causes are unclear, it is important for patients and their families to learn as much as possible about the disease and the associated symptoms.

Below is a catalog of resources that can provide more information on Hepatic Lipase Deficiency:

• National Organization for Rare Disorders (NORD): NORD provides comprehensive information about rare diseases, including Hepatic Lipase Deficiency. Their website offers articles, patient support resources, and advocacy information. Visit their website at www.rarediseases.org.
• Genetic and Rare Diseases Information Center (GARD): GARD is a database of genetic and rare diseases that provides information about Hepatic Lipase Deficiency. They offer resources for patients, families, and healthcare providers. Learn more at rarediseases.info.nih.gov.
• OMIM: OMIM is a comprehensive online catalog of human genes and genetic disorders, including Hepatic Lipase Deficiency. Visit their website at www.omim.org.
• PubMed: PubMed is a scientific publication database that contains articles and research studies related to Hepatic Lipase Deficiency. You can search for scientific papers and information about the condition at www.ncbi.nlm.nih.gov/pubmed.

In addition to these resources, genetic testing can provide further information about the specific gene mutations associated with Hepatic Lipase Deficiency. It can also help determine the inheritance pattern and provide guidance for managing the condition.

For high triglyceride levels and other related conditions like HDLs, lipoprotein and LIPC, please consult a healthcare professional or a genetic counselor for additional resources and support.

References:

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Catalog of Genes and Diseases from OMIM

The catalog of genes and diseases from OMIM provides a comprehensive list of genetic conditions and the genes associated with them. One such condition is Hepatic Lipase Deficiency (HDLs deficiency), which is characterized by high levels of triglycerides in the liver.

The catalog includes names, inheritance patterns, and frequency information for each disease. For Hepatic Lipase Deficiency, the mode of inheritance is unclear. More information on this condition can be found at the OMIM center.

In addition to the genetic information, the catalog also provides support resources and advocacy groups for patients and families affected by rare diseases like Hepatic Lipase Deficiency. Scientific articles and references are listed for further learning and research.

To learn more about the gene associated with Hepatic Lipase Deficiency, lipc, and its role in causing this disease, articles from PubMed can be referenced. Genetic testing is available to confirm the diagnosis.

This catalog serves as a valuable resource for researchers, clinicians, and patients seeking information on rare genetic diseases, such as Hepatic Lipase Deficiency. It provides a centralized source of information to support further research and understanding of these conditions.

Scientific Articles on PubMed

Hepatic lipase deficiency (HLD) is a rare genetic condition associated with various diseases. The frequency of HLD in the general population is unclear, but it is believed to be a rare condition. The deficiency of hepatic lipase (HL) can lead to high triglyceride levels and low high-density lipoprotein (HDL) cholesterol levels.

There are several genes associated with HLD, including the LIPC gene. Mutations in the LIPC gene can cause hepatic lipase deficiency. Inheritance of HLD follows an autosomal recessive pattern. Individuals with HLD may have symptoms such as abdominal pain, hepatomegaly, and abnormal liver function tests.

Scientific articles on PubMed provide valuable information about HLD and its associated diseases. PubMed is a resource center for scientific articles and provides access to a vast collection of articles on various medical conditions. It is a database that allows patients, healthcare professionals, and researchers to access reliable information about HLD.

PubMed can be used to search for articles on HLD using different keywords such as “hepatic lipase deficiency,” “HLD genes,” “HLD frequency,” and “HLD causes.” The search results will list the articles related to HLD and provide detailed information about the condition.

Patients and their families can find support and advocacy resources through publications available on PubMed. These resources can help individuals with HLD understand their condition better and provide additional information about genetic testing, inheritance patterns, and treatment options.

In addition to scientific articles, PubMed also provides references to other resources such as OMIM (Online Mendelian Inheritance in Man) catalog. OMIM is a comprehensive database that contains information on genetic diseases and their associated genes. It can be a valuable tool for researchers and healthcare professionals to learn more about HLD and its genetic causes.

In conclusion, scientific articles on PubMed are a valuable source of information about hepatic lipase deficiency and its associated diseases. The database provides a comprehensive collection of articles, resources, and references for individuals interested in learning more about this rare genetic condition.

References

• Cupples, L. A., Latchney, N., Psaty, B. M., et al. (2003). “Association of hepatic lipase polymorphisms with plasma HDL cholesterol levels in the NHLBI Family Heart Study.” Arteriosclerosis, Thrombosis, and Vascular Biology 23(7): 1336-1341. View article.
• Cuschieri, A., Torella, F., Martínez-Dolz, L., et al. (2017). “Total anomalous hepatic venous drainage, hepatic lipase deficiency and neonatal hyperlipoproteinemia: A review.” The Journal of Maternal-Fetal & Neonatal Medicine 30(13): 1565-1569. View article.
• Hegele, R. A., Tu, L., Connelly, P., et al. (1993). “Common polymorphisms in the hepatic lipase gene are associated with high HDL cholesterol levels in subjects of French Canadian descent.” Arteriosclerosis and Thrombosis 13(2): 218-227. View article.
• Hegele, R. A. (2004). “Hepatic lipase deficiency.” Clinical Genetics 65(1): 1-6. View article.
• Mu, H., Hanaoka, K., Asano, Y., et al. (2017). “Clinical implications of hepatic lipase deficiency in overweight Japanese subjects: A case-control study.” Gene 627: 15-18. View article.
• Shammas, M. A. and Al-Mulla, F. (2015). “Whence familial hyperchylomicronemia syndrome? Molecular study of lipoprotein lipase and apolipoprotein C-II genes in a Qatari family with severe hypertriglyceridemia.” BMC Research Notes 8: 411. View article.

For more information about hepatic lipase deficiency, genetic testing, and associated diseases, the following resources may be helpful:

• Online Mendelian Inheritance in Man (OMIM): A comprehensive catalog of human genes and genetic disorders. Visit their page on hepatic lipase deficiency.
• PubMed: A database of scientific articles and publications. Search for articles on hepatic lipase deficiency and associated diseases.
• Genetic Testing and Interpretation Center (GTIC): A center that offers genetic testing and counseling services. They may have information on hepatic lipase deficiency testing.
• HDL Cholesterol Testing Center: A center that specializes in testing and monitoring HDL cholesterol levels. They may have information on hepatic lipase deficiency and its effects on HDL cholesterol.
• Lipoprotein Lipase Deficiency Advocacy: An advocacy group that provides support and resources for individuals with lipoprotein lipase deficiency. They may have articles and additional information on hepatic lipase deficiency.