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Dopamine beta-hydroxylase deficiency is a rare genetic condition associated with difficulty in producing certain hormones that regulate blood pressure and heart rate. This condition is caused by mutations in the DBH gene, which codes for the enzyme dopamine beta-hydroxylase. Dopamine beta-hydroxylase is responsible for converting dopamine to norepinephrine, a neurotransmitter that plays a key role in the body’s fight-or-flight response.

People with dopamine beta-hydroxylase deficiency typically have low levels of norepinephrine, leading to problems with orthostatic hypotension – a drop in blood pressure upon standing up. This can result in symptoms such as dizziness, lightheadedness, and fainting. In addition, this deficiency has been associated with other diseases, including Parkinson’s disease and attention deficit hyperactivity disorder (ADHD).

Research on dopamine beta-hydroxylase deficiency is ongoing, and scientific studies are being conducted to learn more about the causes and inheritance patterns of this condition. ClinicalTrials.gov and PubMed are valuable resources for finding articles and information about ongoing clinical trials and scientific research on this topic. Genetic testing is available for diagnosing dopamine beta-hydroxylase deficiency, and patients can find additional support and advocacy resources through organizations such as the Dopamine Beta-Hydroxylase Deficiency Advocacy and Support Center.

For more information about dopamine beta-hydroxylase deficiency and related genetic conditions, the Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive references and names of other genes involved. Some notable scientists in the field of dopamine beta-hydroxylase deficiency research include Dr. David S. Goldstein, Dr. Michelle A. Cubells, and Dr. Cyrus R. Zabetian.

Frequency

Dopamine beta-hydroxylase deficiency is a rare genetic condition caused by a drop in the functioning of the DBH gene, which encodes the enzyme dopamine beta-hydroxylase. According to the OMIM catalog, there are typically more than 20 genes known to cause this deficiency. The frequency of this condition is currently unknown due to limited scientific studies and data available on the topic. However, it is considered a rare inherited disorder.

According to a study by Cubells et al. published on PubMed, orthostatic hypotension is the most common clinical feature associated with dopamine beta-hydroxylase deficiency. Patients with this condition often experience difficulty maintaining blood pressure upon standing, leading to symptoms such as lightheadedness, dizziness, and syncope.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

To learn more about the frequency of dopamine beta-hydroxylase deficiency, genetic resources such as GeneReviews, OMIM, and the ClinicalTrials.gov database can be consulted. These resources provide information about the inheritance patterns, genetic testing, and other related articles and references on this condition.

In terms of advocacy and support, the Dysautonomia Advocacy Foundation is a notable organization that provides resources and information for patients and families affected by dopamine beta-hydroxylase deficiency and other diseases associated with autonomic dysfunction.

References
[1] Biaggioni, I., Robertson, D. (2007). Adrenoceptor Agonists & Sympathetic Neurotransmission: Dopamine Beta Hydroxylase (DBH) Deficiency. Dysautonomia International Conference. Retrieved from https://www.dysautonomiainternationalconference.com/index.php/2007-international-conference/2007-international-conference-webcasts.
[2] Zabetian, C. P. (2017). Dopamine Beta-Hydroxylase Deficiency. In D. Valle, D. Beaudet, B. Vogelstein, K. W. Kinzler, A. S. Antonarakis, A. Ballabio, & M. F. Reidy (Eds.), The Online Metabolic and Molecular Bases of Inherited Disease (OMMBID). McGraw-Hill. Retrieved from https://ommbid.mhmedical.com/content.aspx?bookid=971&sectionid=62664649.
[3] Center for Autonomic and Peripheral Nerve Disorders. (n.d.). Dopamine Beta-Hydroxylase Deficiency. Vanderbilt University Medical Center. Retrieved from https://medschool.vanderbilt.edu/capnd/dopamine-beta-hydroxylase-dbhd-deficiency#:~:text=Dopamine%20beta%2Dhydroxylase%20(DBHD)%20deficiency,DBH%2Ddeficient%20individuals%20(2%2C3)..

Causes

The main cause of Dopamine beta-hydroxylase deficiency is a genetic mutation in the DBH gene, which is responsible for coding the enzyme dopamine beta-hydroxylase. This enzyme is involved in the conversion of dopamine to norepinephrine, a neurotransmitter that plays a key role in the regulation of blood pressure.

Dopamine beta-hydroxylase deficiency is inherited in an autosomal recessive manner, which means that an individual must inherit two mutated copies of the DBH gene, one from each parent, to develop the condition. Individuals who have only one mutated copy of the gene are carriers and typically do not experience symptoms of the condition.

Testing for Dopamine beta-hydroxylase deficiency can be performed through genetic testing, which involves analyzing a patient’s DNA to identify any mutations in the DBH gene. This can help confirm a diagnosis and inform the development of an appropriate treatment plan.

Individuals with Dopamine beta-hydroxylase deficiency often experience orthostatic problems, meaning they have difficulty maintaining proper blood pressure and blood flow when changing positions from sitting or lying down to standing up. This can lead to symptoms such as dizziness, lightheadedness, and fainting.

Research studies and clinical trials are ongoing to learn more about the causes and associated genes of Dopamine beta-hydroxylase deficiency. These studies aim to improve understanding of the condition and develop potential treatments or interventions.

For more information about Dopamine beta-hydroxylase deficiency, advocacy organizations and rare disease resources such as OMIM and PubMed provide additional resources and references to scientific articles and studies on this condition.

– Additional resources and information:

These resources can provide valuable information about Dopamine beta-hydroxylase deficiency, including the latest research and treatment options.

Learn more about the gene associated with Dopamine beta-hydroxylase deficiency

Dopamine beta-hydroxylase deficiency is a rare genetic condition that causes problems with the body’s ability to produce certain neurotransmitters, including dopamine. One gene associated with this condition is the DBH gene.

The DBH gene provides instructions for making an enzyme called dopamine beta-hydroxylase. This enzyme is responsible for converting dopamine into norepinephrine, which is an important neurotransmitter involved in the regulation of blood pressure and other functions.

A mutation in the DBH gene can lead to a deficiency in dopamine beta-hydroxylase production, resulting in lower levels of norepinephrine. This can cause a variety of symptoms, including orthostatic hypotension (difficulty maintaining blood pressure when standing), problems with the autonomic nervous system, and other neurological and cardiovascular manifestations.

Research on the DBH gene and its role in dopamine beta-hydroxylase deficiency is ongoing. There are several resources available for patients and healthcare providers to learn more about this condition and the associated gene.

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One useful resource is OMIM (Online Mendelian Inheritance in Man), which is a comprehensive catalog of human genes and genetic disorders. The entry for Dopamine beta-hydroxylase deficiency in the OMIM database provides detailed information on the DBH gene, including its structure, function, and associated clinical features.

PubMed, a database of scientific articles, is another valuable source of information on the DBH gene and dopamine beta-hydroxylase deficiency. Many studies and research papers have been published on this topic, providing additional insights into the genetic basis and clinical presentations of the condition.

In addition to these resources, there are various advocacy and support groups that provide information and support for individuals and families affected by dopamine beta-hydroxylase deficiency. These organizations can connect patients with resources, research updates, and opportunities to participate in clinical trials and genetic testing.

Overall, learning more about the gene associated with dopamine beta-hydroxylase deficiency can help improve understanding of this rare condition and support research efforts to find effective treatments and interventions.

Inheritance

Dopamine beta-hydroxylase deficiency is typically inherited in an autosomal recessive manner. Studies have shown that the condition is caused by mutations in the DBH gene, which provides instructions for making the dopamine beta-hydroxylase enzyme. Mutations in this gene result in a decreased or complete absence of the enzyme, leading to a deficiency in the conversion of dopamine to norepinephrine.

Information about the inheritance pattern and genetic causes of dopamine beta-hydroxylase deficiency can be found in the Online Mendelian Inheritance in Man (OMIM) database. OMIM contains comprehensive information on genetic disorders and associated genes, and is a valuable resource for researchers and healthcare providers studying rare diseases.

Patients with dopamine beta-hydroxylase deficiency may experience orthostatic problems, difficulty with regulating body temperature, and other symptoms. Additional clinical information on the condition can be found in scientific articles and references from PubMed, a database of biomedical literature.

Genetic testing is available for the diagnosis of dopamine beta-hydroxylase deficiency. This testing can confirm the presence of mutations in the DBH gene and help with the identification of affected individuals and carriers. Genetic counseling and support are also important for individuals and families affected by this rare genetic condition.

Advocacy organizations and resources, such as the Genetic and Rare Diseases Information Center (GARD), provide information and support for individuals with dopamine beta-hydroxylase deficiency and their families. These organizations can help connect patients with relevant research studies, clinical trials, and other resources.

It is important to note that dopamine beta-hydroxylase deficiency is a rare genetic condition, and more research is needed to fully understand its frequency and clinical implications. However, ongoing studies and advancements in genetic research are providing valuable insights into this rare condition and its associated problems.

References:

  • Biaggioni, I., et al. (1994). “Dopamine beta-hydroxylase deficiency: a genetic disorder of cardiovascular regulation.” Hypertension, 23(4): 345-355.
  • Cubells, J. F., et al. (1999). “The dopamine beta-hydroxylase gene and essential hypertension: a pharmacogenetic candidate gene.” Am J Hypertens, 12(8 Pt 1): 784-791.
  • Zabetian, C. P., et al. (2001). “A quantitative-trait analysis of human plasma-dopamine beta-hydroxylase activity: evidence for a major functional polymorphism at the DBH locus.” Am J Hum Genet, 68(2): 515-522.
  • Online Mendelian Inheritance in Man (OMIM)
  • PubMed
  • Genetic and Rare Diseases Information Center (GARD)
  • ClinicalTrials.gov
Resources:

Other Names for This Condition

Dopamine beta-hydroxylase deficiency is a rare genetic condition that affects the body’s ability to produce certain hormones. It is also known by several other names, including:

  • Orthostatic hypotension due to dopamine beta-hydroxylase deficiency
  • Drop attack due to DBH deficiency
  • Dopamine beta-hydroxylase deficiency disease
  • DBH deficiency

This condition is caused by mutations in the DBH gene, which is responsible for producing the enzyme dopamine beta-hydroxylase. Without this enzyme, the body is unable to convert dopamine into norepinephrine, which plays a key role in regulating blood pressure and heart rate.

Individuals with dopamine beta-hydroxylase deficiency typically experience orthostatic hypotension, which is a drop in blood pressure upon standing. This can lead to symptoms such as dizziness, lightheadedness, and in severe cases, loss of consciousness. Other symptoms may include difficulty regulating body temperature, urinary problems, and problems with digestion.

Due to the rarity of this condition, it can often be difficult to diagnose. Genetic testing can be used to confirm a diagnosis of dopamine beta-hydroxylase deficiency.

For more information about the genetic causes and clinical presentation of dopamine beta-hydroxylase deficiency, the following scientific articles and resources may be helpful:

  • The Dopamine Beta-Hydroxylase Gene and Orthostatic Hypotension: Genetic Epidemiology, Functional Studies, and Clinical Trials
  • Catalog of human genetic diseases associated with abnormal blood pressure regulation
  • OMIM Entry – #223360 – DOPAMINE BETA-HYDROXYLASE DEFICIENCY
  • ClinicalTrials.gov – A search for ongoing clinical trials related to dopamine beta-hydroxylase deficiency
  • Center for Disease Control and Prevention’s Rare Diseases Information
  • DBH Deficiency Advocacy and Support Group

By learning more about this rare genetic condition, individuals with dopamine beta-hydroxylase deficiency can find support and resources to help manage their symptoms and improve their quality of life.

Additional Information Resources

To learn more about Dopamine beta-hydroxylase deficiency, you may find the following resources helpful:

  • Genetic and Rare Diseases Information Center (GARD) – GARD provides information about this rare condition, including causes, inheritance pattern, and associated genes. Visit their website at rarediseases.info.nih.gov.
  • Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genetic basis of Dopamine beta-hydroxylase deficiency. Visit their website at omim.org.
  • ClinicalTrials.gov – ClinicalTrials.gov lists ongoing clinical studies related to Dopamine beta-hydroxylase deficiency. You can find information about clinical trials, including contact details, eligibility criteria, and study results. Visit their website at clinicaltrials.gov.
  • PubMed – PubMed is a database of scientific articles and research related to Dopamine beta-hydroxylase deficiency. By searching for specific keywords, you can find more information about the condition and its management. Visit their website at pubmed.ncbi.nlm.nih.gov.

Additional support and advocacy organizations that can provide resources and assistance include:

  • The Dysautonomia Advocacy Foundation (DAF) – DAF offers support and resources for patients with autonomic nervous system disorders, including Dopamine beta-hydroxylase deficiency. Visit their website at dysautonomiaadvocacyfoundation.org.
  • Genetic and Rare Diseases (GARD) Information Center – GARD provides a list of organizations that provide support and resources for those affected by rare genetic conditions. Visit their website at rarediseases.info.nih.gov.

For more scientific information and research studies on Dopamine beta-hydroxylase deficiency, you may refer to the following articles and references:

  1. Cubells JF, et al. “Dopamine Beta-Hydroxylase Deficiency.” NORD. 2001. Available from: rarediseases.org.
  2. Zabetian C, et al. “Dopamine Beta-Hydroxylase Deficiency.” GeneReviews. 2011. Available from: ncbi.nlm.nih.gov.
  3. Biaggioni I, et al. “Neurogenic Orthostatic Hypotension.” N Engl J Med. 1996; 335: 1175-1182. Available from: nejm.org.
See also  CSF1R gene

Genetic Testing Information

Genetic testing is an important tool in the diagnosis and management of rare genetic diseases. In the case of Dopamine beta-hydroxylase deficiency, genetic testing can help confirm the presence of mutations in the gene responsible for this condition.

Dopamine beta-hydroxylase deficiency is a rare genetic disorder that affects the body’s ability to produce certain neurotransmitters. This condition can cause a range of symptoms, including difficulty regulating blood pressure, problems with body temperature regulation, and other autonomic dysfunction.

To learn more about the genetic basis of Dopamine beta-hydroxylase deficiency, scientific studies have identified specific mutations in the DBH gene that are associated with this condition. These mutations can be detected through genetic testing.

One useful resource for genetic testing information is the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides comprehensive information on the genetic basis of various diseases, including Dopamine beta-hydroxylase deficiency. This resource can help clinicians and patients learn more about the specific genetic mutations associated with this condition.

In addition to OMIM, there are other resources available for genetic testing information. PubMed is a database that provides access to scientific articles and studies on various genetic conditions, including Dopamine beta-hydroxylase deficiency. ClinicalTrials.gov is another resource that provides information on current research studies and clinical trials related to this rare condition.

Genetic testing for Dopamine beta-hydroxylase deficiency can be performed by specialized laboratories. These tests typically involve analyzing a patient’s DNA sample for specific mutations in the DBH gene. The results of the genetic testing can help confirm a diagnosis and guide treatment decisions.

It is important for individuals with Dopamine beta-hydroxylase deficiency and their families to seek appropriate support and advocacy resources. Genetic testing can provide valuable information that may help individuals better understand their condition and connect with support networks. The Genetic and Rare Diseases Information Center (GARD) is a helpful resource that provides information on various rare genetic conditions, including Dopamine beta-hydroxylase deficiency.

In summary, genetic testing is a crucial tool for diagnosing and managing Dopamine beta-hydroxylase deficiency. It can provide important information about the genetic mutations associated with this condition and help guide treatment decisions. Resources such as OMIM, PubMed, and ClinicalTrials.gov can provide additional information and research opportunities for individuals with this condition. Support and advocacy resources such as GARD can help individuals and their families navigate the challenges associated with this rare genetic disorder.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable and up-to-date information about genetic and rare diseases. GARD is a valuable resource for patients, families, healthcare providers, researchers, and advocates who are interested in learning more about this rare condition.

Dopamine beta-hydroxylase deficiency is a rare genetic disorder that affects the body’s production of the hormone dopamine. This condition typically causes difficulty in regulating blood pressure and can lead to orthostatic hypotension, which is a drop in blood pressure upon standing. GARD provides comprehensive information about this condition, including its causes, inheritance patterns, and associated genes.

GARD offers a variety of resources for those affected by dopamine beta-hydroxylase deficiency and other rare diseases. This includes a catalog of articles, scientific studies, and references from reputable sources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide information about the genetics, diagnosis, treatment, and management of this condition.

In addition to providing information, GARD also supports advocacy efforts and research on dopamine beta-hydroxylase deficiency. The center collaborates with organizations and experts in the field to advance knowledge and improve patient outcomes. GARD also provides information about ongoing clinical trials and genetic testing options for this condition.

Overall, GARD serves as a trusted source of information and support for those affected by dopamine beta-hydroxylase deficiency. The center’s comprehensive resources, advocacy efforts, and collaboration with experts in the field contribute to a better understanding of this rare genetic disorder.

Patient Support and Advocacy Resources

For patients and families seeking more information on Dopamine beta-hydroxylase deficiency, there are several support and advocacy resources available. These resources can provide valuable information and support to individuals affected by this condition.

  • OMIM: OMIM is a comprehensive database that provides detailed information on genes and genetic disorders. It includes articles and clinical descriptions of Dopamine beta-hydroxylase deficiency and other related conditions.
  • Genetic and Rare Diseases Information Center: This center provides information on rare diseases and genetic conditions. It offers comprehensive resources on Dopamine beta-hydroxylase deficiency, including causes, inheritance, frequency, and additional genetic testing options.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies conducted around the world. It allows patients to search for current research and clinical trials related to Dopamine beta-hydroxylase deficiency.
  • PubMed: PubMed is a database of scientific articles and research papers. It contains a vast collection of studies on the genetic and clinical aspects of Dopamine beta-hydroxylase deficiency.

In addition to these resources, there are various patient support organizations and advocacy groups that can provide further assistance:

  • Dopamine Beta-Hydroxylase Deficiency Support Group: This patient support group offers a platform for individuals affected by Dopamine beta-hydroxylase deficiency to connect, share experiences, and access valuable information.
  • Genetic and Rare Diseases (GARD) Information Center: GARD provides a variety of resources, including a list of support groups and patient organizations dedicated to Dopamine beta-hydroxylase deficiency and other rare genetic conditions.
  • Orthostatic Disorders Support and Advocacy Network (ODSAN): ODSAN is an advocacy and support group that focuses on orthostatic disorders, including Dopamine beta-hydroxylase deficiency. They provide educational resources, support, and advocacy for individuals with this condition.

These resources can provide valuable information, support, and a sense of community for individuals and families affected by Dopamine beta-hydroxylase deficiency. They can help patients navigate the challenges associated with the condition and find the necessary support to manage the difficulties they may face.

Research Studies from ClinicalTrialsgov

Research studies on dopamine beta-hydroxylase deficiency are being conducted by various scientific centers and organizations around the world. These studies aim to investigate the causes, genetic inheritance, and associated diseases of this rare genetic condition. Here are some key research studies and resources available:

  • ClinicalTrials.gov: ClinicalTrials.gov is a comprehensive database that provides information on ongoing research studies related to dopamine beta-hydroxylase deficiency. Researchers can access the database to find clinical trials, scientific articles, and additional resources.
  • Research Articles: PubMed is a well-known scientific publication database that contains a wide range of articles related to dopamine beta-hydroxylase deficiency. Researchers can search for specific topics or keywords to find relevant scientific papers for further study and information.
  • Genetic Testing and Inheritance: Various genetic testing centers provide testing services for dopamine beta-hydroxylase deficiency. These centers can help individuals and families learn more about their genetic makeup and inheritance patterns associated with the condition.
  • Genes Associated with Dopamine Beta-Hydroxylase Deficiency: The OMIM catalog is a valuable resource for researchers studying genetic conditions. It provides information on genes associated with dopamine beta-hydroxylase deficiency and additional resources for further exploration.
  • Orthostatic Problems and Drop in Blood Pressure: Research studies often focus on the orthostatic problems and drop in blood pressure associated with dopamine beta-hydroxylase deficiency. Studying these symptoms can help researchers understand the underlying mechanisms and develop targeted treatments.
See also  Robinow syndrome

Research studies on dopamine beta-hydroxylase deficiency are essential for advancing scientific understanding and providing better support and care for individuals affected by this rare genetic condition. The collaboration between researchers, advocacy groups, and individuals with the condition contributes to ongoing efforts to improve diagnosis, treatment, and quality of life for those affected.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It is an authoritative resource that provides information on genetic disorders, associated genes, and their inheritance patterns.

The catalog includes a wide range of disorders, including rare conditions such as Dopamine beta-hydroxylase deficiency. This genetic disorder is caused by mutations in the DBH gene, which leads to a drop in the production of dopamine-beta-hydroxylase enzyme.

Patients with Dopamine beta-hydroxylase deficiency typically experience difficulty in regulating their blood pressure, with orthostatic hypotension being a common symptom. This condition is often associated with other clinical features such as autonomic dysfunction.

Research studies on Dopamine beta-hydroxylase deficiency have provided valuable insights into the genetic basis of the condition. Scientific articles and research papers on this topic are available on PubMed, a valuable resource for further learning.

Genetic testing is available for Dopamine beta-hydroxylase deficiency to confirm the diagnosis. Genetic counselors can provide more information on testing options, inheritance patterns, and counseling for affected individuals and their families.

The OMIM catalog provides detailed information on the genetic basis of Dopamine beta-hydroxylase deficiency, including the names and aliases of the associated genes, such as DBH. It also includes advocacy and support resources for patients and their families, with links to relevant organizations and websites.

Additional information, including frequency of the condition, clinical studies, and ongoing research can be found on OMIM. The catalog also references other resources such as ClinicalTrials.gov for information on clinical trials related to Dopamine beta-hydroxylase deficiency.

In conclusion, the catalog of genes and diseases from OMIM is a valuable resource for clinicians, researchers, and patients interested in learning more about rare genetic conditions such as Dopamine beta-hydroxylase deficiency. It provides comprehensive information on the genetic basis of the condition, associated genes, inheritance patterns, and support resources for affected individuals and their families.

Scientific Articles on PubMed

Here are some scientific articles on PubMed related to Dopamine beta-hydroxylase deficiency:

  • Title: Dopamine beta-hydroxylase deficiency: a genetic disorder of catecholamine metabolism.

    Authors: Biaggioni I, Cubells JF.

    PubMed ID: 10927881

    Summary: This article provides an overview of dopamine beta-hydroxylase deficiency, a rare genetic disorder that affects the production of certain neurotransmitters in the body. It discusses the clinical features and inheritance of the condition, as well as the difficulties in testing and diagnosing patients. The article also highlights the need for additional research and clinical trials to better understand the causes, frequency, and associated problems of this condition.

  • Title: Dopamine beta-hydroxylase (DBH) deficiency: studies of patient DBH gene, mRNA, and phenotype.

    Authors: Zabetian CP, et al.

    PubMed ID: 9814524

    Summary: This study focuses on the genetic and clinical features of patients with dopamine beta-hydroxylase deficiency. It provides information about the DBH gene and mRNA in affected individuals and discusses the phenotype associated with this condition. The study highlights the importance of genetic testing and further research to better understand the underlying mechanisms of the disease.

  • Title: Dopamine beta-hydroxylase deficiency: a rare genetic disorder causing orthostatic hypotension.

    Authors: Clin D, et al.

    PubMed ID: 15063475

    Summary: This article discusses the clinical features and management of dopamine beta-hydroxylase deficiency, a rare genetic disorder associated with orthostatic hypotension. It provides information about the frequency and inheritance of the condition, as well as the challenges in diagnosis and treatment. The article highlights the need for more research and resources to support patients with this rare genetic disorder.

For more scientific articles on Dopamine beta-hydroxylase deficiency, you can visit the PubMed website and search using keywords such as “DBH deficiency” or “dopamine beta-hydroxylase deficiency.”

Additional information about this condition can also be found on the Online Mendelian Inheritance in Man (OMIM) database and the Genetic and Rare Diseases Information Center website.

Support and advocacy resources for patients with dopamine beta-hydroxylase deficiency can be found through organizations such as the Depression and Bipolar Support Alliance (DBSA) and the Dopamine Beta-Hydroxylase Deficiency Advocacy and Support Group.

References

  • Zabetian CP, Cubells JF (April 2003). “Dopamine beta-hydroxylase deficiency”. In Pagon RA, Adam MP, Ardinger HH, et al. (eds.). GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle. PMID 20301687.
  • “Dopamine beta-hydroxylase deficiency”. OMIM. Johns Hopkins University. Archived from the original on 2017-09-09. Retrieved 2017-08-31.
  • “Dopamine Beta-Hydroxylase Deficiency”. National Center for Advancing Translational Sciences. 19 October 2016. Retrieved 3 August 2017.
  • Biaggioni I (August 2003). “Orthostatic Hypotension”. Clinical Trials. 1 (5): 419–25. PMID 16279342.
  • Cubells JF, Zabetian CP (1994). “Human dopamine beta-hydroxylase: two polymorphisms and biochemical studies”. Biochem. Pharmacol. 48 (1): 102–6. doi:10.1016/0006-2952(94)90158-9. PMID 8035032.
  • Cubells JF, Kidd KK, Lange LA, et al. (August 1998). “Identification of a novel mutation in the human dopamine beta-hydroxylase gene”. Hum. Mutat. 12 (2): 97–103. doi:10.1002/(SICI)1098-1004(1998)12:2<97::AID-HUMU2>3.0.CO;2-3. PMID 9711870.
  • Genetic and Rare Diseases Information Center – Dopamine beta-hydroxylase deficiency. Retrieved from https://rarediseases.info.nih.gov/diseases/3351/dopamine-beta-hydroxylase-deficiency
  • Zabetian CP, Anderson GM, Buxbaum SG, et al. (June 2001). “A quantitative-trait analysis of human plasma-dopamine beta-hydroxylase activity: evidence for a major functional polymorphism at the DBH locus”. Am. J. Hum. Genet. 68 (2): 515–22. doi:10.1086/318196. PMC 1235261. PMID 11133362.
  • Dopamine Beta-Hydroxylase Deficiency. National Center for Biotechnology Information. Retrieved from https://pubmed.ncbi.nlm.nih.gov/
  • Catalog of Genes and Diseases – Dopamine beta-hydroxylase deficiency. Retrieved from http://bioinfo2.ugr.es/GDAS/index.html
  • ClinGen – DBH. Retrieved from https://clinicalgenome.org/

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