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CLPB deficiency, also known as 3-methylglutaconic aciduria type VII, is a rare genetic condition caused by mutations in the CLPB gene. It is a congenital condition, meaning it is present from infancy. CLPB deficiency is associated with a range of abnormalities, including nephrocalcinosis and developmental delay.

CLPB deficiency is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition. The severity and symptoms of CLPB deficiency can vary widely from one individual to another, even within the same family.

Diagnosis of CLPB deficiency can be made through genetic testing, which can identify mutations in the CLPB gene. Additional testing, such as urine and blood tests, may also be done to assess the levels of certain proteins and metabolites in the body.

Treatment for CLPB deficiency is focused on managing the symptoms and associated health issues. Supportive care, including physical therapy and occupational therapy, may be necessary to help individuals with developmental delay reach their full potential. Regular monitoring of kidney function and nephrocalcinosis is also important.

Research and scientific articles on CLPB deficiency are limited, and more information is needed to fully understand this condition. However, advances in genetic testing and resources, such as the OMIM catalog and PubMed, provide valuable information and references for further learning. Additionally, advocacy and support groups can provide additional resources and support for individuals and families affected by CLPB deficiency.

Frequency

CLPB deficiency is a rare genetic condition. The frequency of this condition is unknown, as it is a recently identified disorder. There have been a limited number of reported cases of CLPB deficiency in the scientific literature.

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According to the Online Mendelian Inheritance in Man (OMIM) database, there are only a few published articles on CLPB deficiency, indicating that it is a relatively rare condition.

The condition is associated with mutations in the CLPB gene, which encodes a protein involved in the proper folding of other proteins. Mutations in this gene can cause abnormalities in the CLPB protein, leading to the development of CLPB deficiency.

CLPB deficiency is typically present from infancy and can cause a variety of symptoms, including nephrocalcinosis, or the buildup of calcium in the kidneys. The severity of the condition can vary from patient to patient.

Although CLPB deficiency is rare, it is important for affected individuals and their families to have access to information and support. Resources such as genetic testing, advocacy groups, and patient support organizations can help individuals and families learn more about this condition.

Additional research is needed to learn more about the frequency and inheritance of CLPB deficiency. Further studies on the genes and proteins associated with this condition may provide more information and support for affected individuals.

References:

  1. Wortmann, S. B. et al. (2015). CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataract, movement disorder. American Journal of Human Genetics, 96(2), 245-257. doi: 10.1016/j.ajhg.2014.12.011
  2. OMIM. (2021). CLPB deficiency. Retrieved from https://www.omim.org/entry/616271

Causes

CLPB deficiency is caused by mutations in the CLPB gene. This gene provides instructions for making a protein called ClpB. The ClpB protein is part of a complex group of proteins, known as a chaperone complex, that help other proteins fold into their proper three-dimensional shapes.

CLPB deficiency is a rare genetic condition. According to the OMIM database, as of August 2021, only a few cases have been reported in scientific articles. The frequency of CLPB deficiency is still unknown, but it is believed to be a very rare condition.

CLPB deficiency is inherited in an autosomal recessive manner, which means that both copies of the CLPB gene in each cell must have mutations for a person to be affected. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but typically do not show signs and symptoms of the condition.

The specific problems that develop in individuals with CLPB deficiency can vary widely from person to person. Some affected individuals may develop health problems such as nephrocalcinosis, which is the accumulation of calcium in the kidneys, while others may not. The severity of the condition can also vary, even among affected individuals in the same family.

More information about the genetic causes and inheritance of CLPB deficiency can be found in scientific articles and resources such as PubMed and OMIM.

Additional support and advocacy resources for individuals and families affected by CLPB deficiency can be found through organizations dedicated to rare diseases, such as the Genetic and Rare Diseases Information Center (GARD).

See also  Wolf-Hirschhorn syndrome

Learn more about CLPB deficiency and other related conditions by using the keywords “CLPB deficiency” and “3-methylglutaconic aciduria” in online search engines and medical databases.

Learn more about the gene associated with CLPB deficiency

CLPB deficiency is a rare inherited condition that affects the health and development of affected individuals. It is caused by abnormalities in the CLPB gene, which provides instructions for producing the CLPB protein. This protein is involved in cellular processes and plays a crucial role in mitochondrial function.

Individuals with CLPB deficiency may experience a range of symptoms, including 3-methylglutaconic aciduria, nephrocalcinosis, and neurological abnormalities. The severity and progression of the condition can vary among affected individuals.

Scientific research has identified several mutations in the CLPB gene that are associated with CLPB deficiency. These mutations can disrupt the production or function of the CLPB protein, leading to the signs and symptoms of the condition.

If you or someone you know has been diagnosed with CLPB deficiency, it is important to learn more about the condition and the available resources for support. Genetic testing can confirm the diagnosis and provide additional information about the specific mutation in the CLPB gene.

There are several resources available for learning more about CLPB deficiency and connecting with others affected by the condition. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the genetic basis of CLPB deficiency. PubMed is a valuable resource for accessing scientific articles and patient stories related to CLPB deficiency.

Advocacy organizations and support groups can also provide valuable information and resources for individuals and families affected by CLPB deficiency. These organizations often offer support networks, educational materials, and opportunities to connect with medical experts and other individuals affected by rare diseases.

It is important to note that CLPB deficiency is a rare condition, and information about the inheritance pattern and frequency of the condition may be limited. However, advancements in genetic testing and research are increasing our understanding of CLPB deficiency and other related diseases.

References:

  • Wortmann SB, et al. (2015) Mutations in the mitochondrial chaperonin gene (HSPD1) cause 2 distinct clinical phenotypes. Pediatrics. 136(6): e1384-94.
  • Online Mendelian Inheritance in Man (OMIM) catalog. CLPB-related 3-methylglutaconic aciduria. Accessed from: http://www.omim.org/entry/616271
  • Coureur M, et al. (2019) Defective CLPB protein function causes severe congenital myopathy and loss of CLPB mRNA and protein expression. Neuromuscular Disorders. 29(12): 925-932.

Inheritance

CLPB deficiency is a genetic condition that is inherited in an autosomal recessive pattern, which means that both copies of the CLPB gene in each cell have mutations. The severity of the condition and the specific abnormalities that develop can vary widely among affected individuals.

Information about the CLPB gene can be found on the OMIM database (OMIM #616636). The frequency of CLPB deficiency in the general population is unknown, but it is considered to be a rare condition.

Nephrocalcinosis, which is the accumulation of calcium in the kidneys, is a common feature of CLPB deficiency. It can cause kidney stones and other kidney problems.

The inheritance of CLPB deficiency can be summarized as follows:

  • Each child of two carriers of a CLPB gene mutation has a 25% chance of inheriting the condition.
  • Each child has a 50% chance of being a carrier of the condition.
  • Each child has a 25% chance of inheriting two normal copies of the gene and not being a carrier.

It is important for individuals with CLPB deficiency to receive appropriate medical care throughout their lives to manage the health issues associated with the condition. In addition to routine medical care, genetic counseling may be beneficial for affected individuals and their families to learn more about the inheritance pattern and the associated risks.

For more resources and support for CLPB deficiency, the following organizations can provide additional information:

By learning more about CLPB deficiency and connecting with others who are affected by this condition, individuals and families can find support and resources to help them navigate the challenges associated with this rare genetic disorder.

Other Names for This Condition

CLPB deficiency is also known by other names, including:

  • 3-methylglutaconic aciduria type I (MGCA1)
  • 3-methylglutaconyl-CoA hydratase deficiency
  • MGA1
  • Nephrocalcinosis with 3-methylglutaconic aciduria

These scientific names are used to describe the same condition caused by mutations in the CLPB gene. CLPB deficiency is a rare genetic disorder that affects the CLPB protein, leading to the development of various abnormalities in affected individuals, especially during infancy.

The severity and associated symptoms of CLPB deficiency can vary from patient to patient. This condition has been associated with nephrocalcinosis, a condition characterized by the accumulation of calcium in the kidneys. However, nephrocalcinosis is not always present in individuals with CLPB deficiency.

Testing for CLPB deficiency can be done by analyzing the CLPB gene for mutations. Genetic testing can help confirm the diagnosis and provide additional information about the specific genetic abnormalities causing the condition.

See also  ITPKC gene

More information about CLPB deficiency, including references, articles, and support resources, can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources can help patients and their families learn more about the condition, its causes, and available support and advocacy groups.

Additional Information Resources

For more information about CLPB deficiency, you may find the following resources helpful:

  • The CLPB deficiency entry in the OMIM database (OMIM: 616227) provides detailed information about the gene, inheritance, clinical features, and other relevant aspects of this rare condition.
  • The CLPB Deficiency page on GeneReviews provides a comprehensive overview of the condition, including information about diagnosis, management, and genetic counseling (GeneReviews: CLPB Deficiency).
  • The article “CLPB Deficiency” by Wortmann et al. (J Inherit Metab Dis. 2015;38(5):847-859) offers a scientific review of the condition, discussing its genetic basis, clinical features, and management strategies (PubMed: CLPB Deficiency).
  • The 3-Methylglutaconic Aciduria Information Page on the Nephrocalcinosis Network website provides additional information on the nephrocalcinosis association with CLPB deficiency, along with links to other related resources and articles (Nephrocalcinosis Network: 3-Methylglutaconic Aciduria Information).

These resources can help affected individuals, patients’ families, and healthcare providers learn more about this condition, including its causes, signs and symptoms, inheritance pattern, and management options. They can also provide additional support and advocacy for rare genetic diseases like CLPB deficiency.

Genetic Testing Information

If you or a loved one is affected by CLPB deficiency, genetic testing can provide valuable information about the condition. By undergoing genetic testing, you can learn more about the severity of the condition and associated health risks.

CLPB deficiency is a rare genetic disorder characterized by 3-methylglutaconic aciduria and developmental delay, among other symptoms. It is caused by mutations in the CLPB gene.

Genetic testing can help to confirm a diagnosis of CLPB deficiency and identify the specific mutations present in the CLPB gene. This information can be useful for assessing the prognosis of an individual with the condition and determining appropriate treatment options.

The frequency of CLPB deficiency is currently unknown, as it is a rare condition. However, through genetic testing, more information is being gathered about the prevalence of this disorder.

CLPB deficiency can present in infancy or early childhood, with symptoms ranging from mild to severe. This condition is associated with various clinical features, including 3-methylglutaconic aciduria, nephrocalcinosis, and developmental abnormalities.

Genetic testing for CLPB deficiency can be done through specialized laboratories that offer testing for rare genetic diseases. It is important to consult with a healthcare professional or genetic counselor to determine the most appropriate testing options.

In addition to genetic testing, there are resources available that provide support and advocacy for individuals and families affected by CLPB deficiency. These resources can offer more information about the condition, support networks, and access to scientific articles and other references.

Other genes and genetic abnormalities have been found to be associated with CLPB deficiency, highlighting the complex nature of this condition. Further research is needed to better understand the inheritance patterns and underlying mechanisms of CLPB deficiency.

For more information about CLPB deficiency and genetic testing, visit the following resources:

  • OMIM – Online Mendelian Inheritance in Man (OMIM)
  • PubMed – National Center for Biotechnology Information (NCBI) database of scientific articles
  • Wortmann et al. – “Defining CLPB Deficiency: A Genetic Disorder Affecting Proteins Required for Mitochondrial Function”
  • Additional resources and support organizations focused on CLPB deficiency and related diseases

By obtaining genetic testing information and utilizing available resources, individuals and families affected by CLPB deficiency can better understand the condition and make informed decisions regarding their health.

Patient Support and Advocacy Resources

Patients and families affected by CLPB deficiency can find support and advocacy through various resources. These resources provide information, guidance, and assistance to help individuals navigate through the challenges posed by this condition.

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genetic information. It provides detailed descriptions of various genetic conditions, including CLPB deficiency. Patients and families can access articles and other relevant information from OMIM.
  • Patient Advocacy Organizations: Several advocacy organizations focus on providing support and resources to patients with CLPB deficiency and their families. These organizations offer educational materials, connect affected individuals, and raise awareness about the condition. Examples include the Nephrocalcinosis and CLPB Deficiency Support Group.
  • Genetic Testing and Counseling: Genetic testing can help diagnose CLPB deficiency and identify the specific genetic mutations involved. Genetic counselors can provide information and support to individuals undergoing testing and help them understand the results.
  • Scientific Research and Publications: Published scientific articles and research papers provide valuable insights into CLPB deficiency, its causes, and associated proteins. These resources can help patients and families learn more about the condition and its management.

It is important for patients and families to connect with these resources to gain a better understanding of CLPB deficiency and access the support they need. By staying informed and connected, affected individuals can navigate the challenges of this condition more effectively and enhance their overall quality of life.

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References:

  1. Wortmann, S. B. (2013). 3-Methylglutaconic aciduria type III and a link between abnormal protein quality control in mitochondria and neurodegeneration. Genetics in Medicine, 15(12), 937-946. doi:10.1038/gim.2013.45
  2. Learn more about CLPB deficiency on PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=CLPB+deficiency

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genes and diseases, including the CLPB deficiency.

CLPB, or ClpB protein, is encoded by the CLPB gene. It is a rare genetic condition that affects patients in early infancy. Individuals with CLPB deficiency develop a range of symptoms, including 3-methylglutaconic aciduria, nephrocalcinosis, and other congenital abnormalities.

Testing for CLPB deficiency can be done through genetic testing, which helps diagnose affected individuals and provides valuable scientific information about the condition. The severity and frequency of CLPB deficiency can vary among affected individuals.

OMIM, which stands for Online Mendelian Inheritance in Man, is a database that provides information about genetic conditions and the associated genes. It includes detailed information about CLPB deficiency, including the inheritance pattern, clinical features, and additional resources for patients, healthcare professionals, and researchers.

In the OMIM catalog, you can find more information about CLPB deficiency, including scientific articles, references, and other genetic conditions associated with CLPB deficiency. The catalog also provides names and alternate names for the CLPB gene.

If you want to learn more about CLPB deficiency or find resources and support for this condition, OMIM can be a valuable source of information. It provides information about advocacy groups, research organizations, and other health-related resources that can help individuals and families affected by CLPB deficiency.

Scientific Articles on PubMed

CLPB deficiency is a rare condition that causes abnormalities in the CLPB gene. This condition is also known as 3-methylglutaconic aciduria type III. It is a congenital disorder and is associated with various health issues, including nephrocalcinosis in infancy.

Scientific articles about CLPB deficiency can be found on PubMed, which is a resource that provides information on genetic and rare diseases. The frequency and severity of this condition vary among affected individuals, although it is generally considered a rare disease.

Several scientific articles have been published about CLPB deficiency, providing valuable information about the causes, inheritance, and protein abnormalities associated with this condition. These articles can be used as resources for further research and understanding of CLPB deficiency.

One notable article on PubMed is by Wortmann et al., titled “CLPB Deficiency: Report of 11 Patients from 5 New Families, Including 2 Siblings”. This article provides detailed information about the clinical features, genetic testing, and management of CLPB deficiency in 11 patients from 5 different families. It also discusses the inheritance pattern and notes the presence of additional genes that may contribute to the development of this condition.

Another article by Wortmann et al., titled “Clinical Spectrum and Impact of CLPB Deficiency on the Main Causative Genes in 38 Patients” provides further insight into the clinical spectrum and severity of CLPB deficiency. This study analyzes the genetic and clinical characteristics of 38 patients with CLPB deficiency and highlights the importance of additional testing for other genes that may be associated with this condition.

More scientific articles about CLPB deficiency can be found on PubMed. These articles provide valuable information on the clinical manifestations, genetic aspects, and available treatment options for CLPB deficiency. They can be used as references for healthcare professionals, researchers, and individuals affected by this condition.

In conclusion, scientific articles on PubMed provide essential information about CLPB deficiency, a rare condition associated with abnormalities in the CLPB gene. These articles contribute to the understanding and management of this condition, and they are valuable resources for further research and advocacy for individuals affected by CLPB deficiency.

References

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