Hereditary paraganglioma-pheochromocytoma is a rare condition that is typically associated with tumors of the parasympathetic or sympathetic nervous system. These tumors, called paragangliomas and pheochromocytomas, are usually benign but can become cancerous in some cases. The frequency of this condition is not well established, but studies suggest that it is a rare genetic disease.
For persons with hereditary paraganglioma-pheochromocytoma, genetic testing is required to confirm the diagnosis and determine the specific genetic changes that are responsible for the condition. Mutations in genes such as SDHD, SDHB, SDHC, and SDHAF2 have been associated with this condition. These genes provide instructions for making proteins that are involved in the mitochondrial respiratory chain and the citric acid cycle, which are important for generating energy in cells.
In addition to genetic testing, clinical evaluation and imaging studies are often required to determine the extent and location of the tumors. Treatment may include surgery to remove the tumors, radiation therapy, and medications to control blood pressure and hormone production.
Hereditary paraganglioma-pheochromocytoma is typically inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in a gene. These cases occur in people with no history of the disorder in their family.
Additional information about hereditary paraganglioma-pheochromocytoma can be found through resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed, as well as advocacy and support organizations. ClinicalTrials.gov can provide information about ongoing research studies and scientific articles. The Rustin P. Morse Center for Patient Advocacy and Research at the Seattle Cancer Care Alliance is also a valuable resource for patients and families affected by hereditary paraganglioma-pheochromocytoma.
Frequency
The frequency of hereditary paraganglioma-pheochromocytoma syndrome is not well established, but it is considered to be a rare condition. According to scientific research and genetic databases, the estimated prevalence of hereditary paraganglioma-pheochromocytoma is approximately 1 in 2,000 to 1 in 30,000 persons.
Even with health insurance, patients in the U. S. have a hard time affording their medical care. About one in five working-age Americans with health insurance, and more than half of those without health insurance, reported having trouble paying their medical bills in the last year, according to S. News & World Report.
There are several genes that have been associated with hereditary paraganglioma-pheochromocytoma syndrome, including SDHD, SDHB, SDHC, and SDHAF2. Mutations in these genes can lead to the development of tumors in the parasympathetic and sympathetic nervous system, which can produce hormones such as adrenaline and noradrenaline.
Persons with hereditary paraganglioma-pheochromocytoma syndrome are at an increased risk of developing paragangliomas and/or pheochromocytomas. The tumors can occur in various locations throughout the body, including the head, neck, chest, and abdomen.
It is important to note that hereditary paraganglioma-pheochromocytoma syndrome can have different inheritance patterns. Mutations in SDHD, SDHB, and SDHC genes are typically inherited in an autosomal dominant manner, meaning that each child of an affected individual has a 50% chance of inheriting the mutation. In contrast, mutations in SDHAF2 gene are inherited in an autosomal recessive manner, requiring two copies of the mutated gene for the condition to occur.
The diagnosis of hereditary paraganglioma-pheochromocytoma syndrome is typically confirmed through genetic testing. This testing can help identify mutations in the SDHD, SDHB, SDHC, and SDHAF2 genes, providing valuable information for patient management and genetic counseling.
More genetic research is needed to further understand the causes and frequency of hereditary paraganglioma-pheochromocytoma syndrome. Resources such as OMIM, PubMed, and scientific articles can provide additional information and support for patients and healthcare providers.
Causes
The cause of hereditary paraganglioma-pheochromocytoma is attributed to genetic mutations in certain genes that are involved in the development and functioning of paraganglia, which are clusters of cells found along the parasympathetic chain of the nervous system.
There are several genes that have been identified to be associated with this condition, including SDHB, SDHC, SDHD, SDHA, TMEM127, MAX, and MEN2A and MEN2B. Mutations in these genes can result in the development of paragangliomas and pheochromocytomas.
The inheritance pattern of hereditary paraganglioma-pheochromocytoma is autosomal dominant, meaning that an affected individual has a 50% chance of passing on the mutated gene to their children.
These genetic mutations can affect the production of certain enzymes, such as succinate dehydrogenase, which play a role in cellular metabolism and the conversion of succinate to fumarate in the Krebs cycle. Dysfunction of these enzymes can lead to an accumulation of succinate and a decrease in oxygen availability in cells, potentially contributing to the development of tumors.
In addition to these genetic causes, certain other factors may increase the risk of developing paragangliomas and pheochromocytomas. These include exposure to certain chemicals, such as tobacco smoke, and certain medical conditions, such as neurofibromatosis type 1 and von Hippel-Lindau disease.
Further scientific research is ongoing to better understand the underlying causes of hereditary paraganglioma-pheochromocytoma and to develop more effective diagnostic and treatment strategies.
Learn more about the genes associated with Hereditary paraganglioma-pheochromocytoma
Hereditary paraganglioma-pheochromocytoma is typically caused by mutations in certain genes. These genes have been given names such as SDHD, SDHB, SDHC, and SDHA. These genes are involved in the oxygen-sensing pathway and play a role in tumor suppression.
If you or someone you know has been diagnosed with hereditary paraganglioma-pheochromocytoma, it is important to seek advocacy and support from organizations that specialize in rare diseases. They can provide you with more information about the genetic causes of this condition and connect you with resources that can help you navigate the challenges of living with a rare genetic disorder.
To learn more about the genes associated with hereditary paraganglioma-pheochromocytoma, you can research scientific articles on websites like PubMed. These articles provide additional information on the inheritance patterns, genetic causes, and clinical features of this condition.
| Scientific Journals | Advocacy Organizations |
|---|---|
|
|
In addition to these resources, the Seattle Cancer Care Alliance and Fred Hutchinson Cancer Research Center offer support and information for individuals and families affected by hereditary paraganglioma-pheochromocytoma. They conduct research to better understand these tumors and develop new treatment options.
If your father has been diagnosed with this condition, there may be inherited changes in his genetic makeup that increase the risk of developing hereditary paraganglioma-pheochromocytoma. It is recommended to consult with a genetic counselor for a thorough evaluation and understanding of the potential risks.
Inheritance
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) is an autosomal dominant condition characterized by the development of tumors in specialized cells called paraganglia. These tumors typically arise in the sympathetic or parasympathetic nervous system and can secrete hormones such as adrenaline and noradrenaline.
The inheritance of PGL/PCC is caused by mutations in several genes, including SDHD, SDHB, and SDHC, which are involved in the citric acid cycle and the production of energy in cells. Mutations in these genes can lead to an accumulation of fumarate and other metabolites, which can promote the development of tumors.
PGL/PCC is a rare condition, with an estimated frequency of around 1 in 30,000 persons. It is typically inherited in an autosomal dominant manner, which means that individuals with a mutation in one of these genes have a 50% chance of passing the condition on to their children.
Persons with PGL/PCC may also have other associated conditions, such as hereditary paraganglioma-pheochromocytoma syndrome type 1 (PGL1), which is caused by mutations in the SDHD gene, or hereditary paraganglioma-pheochromocytoma type 2 (PGL2), which is caused by mutations in the SDHB gene. These subtypes may have different clinical features and be associated with a higher risk of developing certain cancers.
Genetic testing is available for PGL/PCC and can help confirm a diagnosis, identify the specific gene mutation, and provide information about the likelihood of developing associated conditions or cancer. Testing can also be useful for family members who may be at risk of inheriting the condition.
Support and advocacy groups, such as the Pheo Para Alliance and the Pheochromocytoma and Paraganglioma Support and Research Network, provide resources and support for individuals and families affected by PGL/PCC. These organizations can provide information about ongoing research, clinical trials, and treatment options.
Learn more about hereditary paraganglioma-pheochromocytoma:
- OMIM: Hereditary Paraganglioma-Pheochromocytoma Syndromes
- The Hospital for Sick Children – Hereditary Paraganglioma/Pheochromocytoma Mutation Database
- ClinicalTrials.gov
Other Names for This Condition
The condition known as Hereditary paraganglioma-pheochromocytoma may also be referred to by the following names:
- Paraganglioma and Pheochromocytoma
- Hereditary Paraganglioma-Pheochromocytoma Syndrome
- PGL/PCC
- Susceptibility to Paragangliomas and Pheochromocytomas
- Pheochromocytoma and Paraganglioma, Hereditary
- SDH-related Paraganglioma-Pheochromocytoma Syndrome
- Hereditary Sympathetic Paraganglioma
These names reflect the different aspects of the condition, including the specific types of tumors (paragangliomas and pheochromocytomas) and the hereditary, genetic nature of the condition.
The condition is typically rare and is associated with mutations in certain genes, such as the SDHB, SDHC, SDHD, and SDHAF2 genes. These genes are involved in the production of enzymes involved in the cellular energy production process known as the citric acid cycle.
Hereditary paraganglioma-pheochromocytoma is often inherited in an autosomal dominant manner, meaning that a mutation in only one copy of the gene is needed to predispose an individual to the development of tumors.
In addition to paraganglioma-pheochromocytoma, mutations in these genes have also been associated with other diseases, such as hereditary renal cell carcinoma and a rare type of inherited neuroendocrine tumor called gastrointestinal stromal tumor.
Diagnosis of hereditary paraganglioma-pheochromocytoma may involve genetic testing to identify specific gene mutations. Genetic counseling and testing may be recommended for individuals with a family history of the condition or those who exhibit specific symptoms associated with paragangliomas and pheochromocytomas, such as high blood pressure, flushing, and rapid heart rate.
Treatment options for individuals with hereditary paraganglioma-pheochromocytoma may include surgery to remove tumors, medications to control blood pressure, and regular monitoring to detect the recurrence or development of new tumors.
For more information about hereditary paraganglioma-pheochromocytoma, genetic testing, and available resources and support, interested individuals can refer to scientific articles, research studies, and online resources from organizations such as the Genetic and Rare Diseases Information Center (GARD), the National Institutes of Health (NIH), the Hereditary Paraganglioma-Pheochromocytoma Syndrome website, and clinicaltrials.gov.
Additional Information Resources
Individuals and families affected by hereditary paraganglioma-pheochromocytoma (PGL/PCC) may find the following resources and references helpful:
- Genetic Testing: Patients interested in learning more about the genetic basis of their condition and potentially undergoing genetic testing can contact genetic counseling services or inquire with their healthcare provider.
- Clinical Trials: Information about ongoing clinical trials investigating new treatments and management strategies for PGL/PCC can be found on the ClinicalTrials.gov website.
- Scientific Articles: Many scientific articles have been published on the topic of hereditary paraganglioma-pheochromocytoma. PubMed, a database of scientific literature, can be a valuable resource for accessing these articles.
- Genetic Databases: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database of human genes and genetic disorders. It provides information on the genes associated with PGL/PCC and other related conditions.
- Support Organizations: Support groups and organizations can provide assistance and emotional support to individuals and families affected by hereditary PGL/PCC. Examples include the Seattle Cancer Care Alliance and the Pheo Para Alliance.
- Referral Centers: Referral centers specializing in the diagnosis and treatment of hereditary paraganglioma-pheochromocytoma are available in some locations. These centers may offer specialized care and expertise in managing this rare condition.
These resources can help individuals and families affected by hereditary paraganglioma-pheochromocytoma to better understand the condition, explore treatment options, and find support.
Genetic Testing Information
Hereditary paraganglioma-pheochromocytoma is a rare genetic condition that causes tumors to develop in certain types of cells in the body. These tumors typically arise in the parasympathetic or sympathetic nervous system and can occur in the neck, chest, abdomen, or pelvis. The condition is associated with mutations in several genes, including SDHB, SDHC, SDHD, and SDHAF2.
Genetic testing can help identify the specific gene mutation that is causing the condition in an individual. This information can be important for several reasons:
- Confirmation of diagnosis: Genetic testing can confirm whether a person has hereditary paraganglioma-pheochromocytoma or another related condition.
- Prognostic information: Certain gene mutations may be associated with a higher or lower risk of developing specific types of tumors or experiencing certain symptoms.
- Frequency of screening: Knowing the specific gene mutation can help determine how often a person should undergo screening for tumors.
- Treatment options: Some gene mutations may be associated with specific treatment options or considerations.
Genetic testing for hereditary paraganglioma-pheochromocytoma is typically performed using a blood or saliva sample. This sample is sent to a laboratory for analysis, where it is screened for mutations in the relevant genes. Results are typically available within a few weeks.
If a mutation is identified, additional testing may be required to determine the specific implications of that mutation. This may involve further genetic testing, imaging studies, or other diagnostic tests.
It is important to note that genetic testing for hereditary paraganglioma-pheochromocytoma is not recommended for everyone. It is typically reserved for individuals with a personal or family history of these tumors or related conditions.
For more information about genetic testing for hereditary paraganglioma-pheochromocytoma, individuals can consult with their healthcare provider or genetic counselor. They can also access resources and information from organizations such as the Pheo Para Alliance, the Genetic and Rare Diseases Information Center, PubMed articles, or OMIM (Online Mendelian Inheritance in Man).
References:
- Rustin, P., Plouin, P.-F. (2006). Paraganglioma-pheochromocytoma(doi:10.1016/S1470-2045(06)70619-6). The Lancet Oncology, 7(9), 725-727. PMID: 16945764
- Pheo Para Alliance (https://pheopara.org/)
- Genetic and Rare Diseases Information Center (https://rarediseases.info.nih.gov/diseases/6762/hereditary-paraganglioma-pheochromocytoma)
- PubMed (https://pubmed.ncbi.nlm.nih.gov/)
- OMIM (https://omim.org/)
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information about the genetics and rare diseases. It is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health.
GARD provides information on a wide range of genetic and rare diseases, including hereditary paraganglioma-pheochromocytoma. This condition is characterized by the development of tumors called paragangliomas and pheochromocytomas, which are usually non-cancerous. These tumors can develop in various locations in the body, such as the head, neck, abdomen, and chest.
The tumors associated with hereditary paraganglioma-pheochromocytoma can cause a range of symptoms, including high blood pressure, rapid heart rate, headaches, sweating, and anxiety. In some cases, these tumors can release hormones into the bloodstream, which can further contribute to the symptoms experienced by affected individuals.
Hereditary paraganglioma-pheochromocytoma is typically inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to each of their children. The condition is caused by mutations in specific genes, including SDHD, SDHB, SDHC, and SDHAF2. These genes are involved in the production of proteins that are part of the mitochondrial respiratory chain, which plays a role in converting oxygen and nutrients into energy within cells.
There are different types of hereditary paraganglioma-pheochromocytoma, depending on the specific gene involved. Mutations in the SDHD gene are associated with a higher frequency of paragangliomas, which are tumors that develop from the cells of the sympathetic and parasympathetic nervous systems. Mutations in the SDHB and SDHC genes are more commonly associated with pheochromocytomas, which are tumors that develop from the cells of the adrenal glands.
Diagnosis of hereditary paraganglioma-pheochromocytoma typically involves a combination of clinical assessments, imaging studies, and genetic testing. Treatment options may include surgery to remove tumors, medications to manage symptoms and control blood pressure, and regular monitoring to detect and manage any new tumors that may develop.
For more information about hereditary paraganglioma-pheochromocytoma and other genetic and rare diseases, the Genetic and Rare Diseases Information Center (GARD) provides a wealth of resources. These resources include a condition-specific catalog of information, references to scientific research articles, information about clinical trials on ClinicalTrials.gov, and links to advocacy and support organizations.
Patient Support and Advocacy Resources
If you or a loved one has been diagnosed with hereditary paraganglioma-pheochromocytoma, it can be helpful to connect with patient support and advocacy resources. Here are some organizations and websites that provide information, support, and resources for individuals and families affected by this condition:
- Hereditary Paraganglioma-Pheochromocytoma Support Center: The Hereditary Paraganglioma-Pheochromocytoma Support Center is dedicated to providing support and resources for individuals and families affected by this condition. They offer information on the causes, inheritance patterns, and types of tumors associated with hereditary paraganglioma-pheochromocytoma. They also provide information on testing and genetic counseling, as well as access to clinical trials and research studies.
- PubMed: PubMed is a valuable resource for finding medical and scientific articles about hereditary paraganglioma-pheochromocytoma. You can search for articles using keywords such as “hereditary paraganglioma-pheochromocytoma,” “paragangliomas,” “pheochromocytomas,” and “SDHD” or “SDHB.”
- Gimenez-Roqueplo: The Gimenez-Roqueplo laboratory specializes in research on hereditary paraganglioma-pheochromocytoma. Their website provides information on the genetics and biology of these tumors, as well as links to additional resources and research articles.
- ClinicalTrials.gov: ClinicalTrials.gov is a comprehensive database of clinical trials and research studies. You can search for ongoing or upcoming trials related to hereditary paraganglioma-pheochromocytoma to see if you or a loved one may be eligible to participate.
- Seattle Cancer Care Alliance: The Seattle Cancer Care Alliance is a leading cancer center that offers specialized care for individuals with hereditary paraganglioma-pheochromocytoma. Their website provides information on treatment options, support services, and access to expert medical professionals.
- Genetic and Rare Diseases Information Center: The Genetic and Rare Diseases Information Center (GARD) offers information about hereditary paraganglioma-pheochromocytoma, including the signs and symptoms, genetic information, and available treatment options. They also provide links to additional resources and organizations that can offer support and information.
- References and Citations: It is important to review scientific articles, publications, and case studies about hereditary paraganglioma-pheochromocytoma to understand the latest research and treatment options. Many of these resources can be found through PubMed and other medical databases.
- Additional Resources: Other resources, such as patient support groups and online forums, can provide a space for individuals and families affected by hereditary paraganglioma-pheochromocytoma to connect and share their experiences. These resources can be found through online searches or by reaching out to medical and genetic counseling professionals.
Remember, support and advocacy resources can provide valuable information, emotional support, and connections to others who understand what you are going through. They can also help you stay informed about the latest research and treatment options.
Research Studies from ClinicalTrialsgov
Research studies from ClinicalTrials.gov aim to explore more about the hereditary paraganglioma-pheochromocytoma syndrome, a rare genetic disorder that causes tumors in the paraganglia and the adrenal glands, resulting in the overproduction of hormones like adrenaline and noradrenaline. These tumors can occur in various parts of the body, including the neck, chest, abdomen, and pelvis.
This syndrome is typically inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. However, there are cases where no family history of the syndrome is present, suggesting other causes, such as spontaneous gene mutations or environmental factors.
To diagnose hereditary paraganglioma-pheochromocytoma syndrome, genetic testing is often used to identify mutations in specific genes, including SDHB, SDHC, SDHD, and SDHAF2. These genes are involved in the citric acid cycle and the electron transport chain, which are vital processes for producing energy in cells.
| Gene Name | Associated Diseases |
|---|---|
| SDHB | Hereditary Paraganglioma |
| SDHC | Hereditary Paraganglioma |
| SDHD | Hereditary Paraganglioma |
| SDHAF2 | Hereditary Paraganglioma |
Currently, there are ongoing research studies registered on ClinicalTrials.gov related to hereditary paraganglioma-pheochromocytoma syndrome. These studies aim to investigate the inheritance patterns, frequency, clinical features, and management strategies of this syndrome. They also explore the potential role of other genes, such as MAX and TMEM127, in the development of paragangliomas and pheochromocytomas.
These research studies may provide valuable information for healthcare professionals, researchers, and advocacy organizations working on paraganglioma-pheochromocytoma syndrome. They offer opportunities to learn more about the underlying mechanisms, develop more accurate diagnostic techniques, and identify novel treatment options for patients affected by these diseases.
For more information and resources on hereditary paraganglioma-pheochromocytoma syndrome, you can visit websites like PubMed, OMIM, and ClinicalTrials.gov. These platforms provide access to various articles, case studies, and other relevant information to support patient care, research, and advocacy efforts.
Catalog of Genes and Diseases from OMIM
OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the relationship between genetic mutations and diseases. In the context of hereditary paraganglioma-pheochromocytoma, OMIM is an invaluable resource for understanding the genetic causes of this condition.
Paraganglioma-pheochromocytoma is a rare genetic condition characterized by the development of tumors in the parasympathetic nervous system. These tumors can occur in various locations, including the neck, abdomen, and other parts of the body. The condition is typically inherited in an autosomal dominant manner, meaning that a person with the genetic mutation has a 50% chance of passing it on to their children.
Several genes have been identified as being associated with hereditary paraganglioma-pheochromocytoma. These include the SDHB, SDHC, and SDHD genes, which encode subunits of the succinate dehydrogenase enzyme complex. Mutations in these genes disrupt the normal function of the enzyme complex and can lead to the development of tumors. Other genes and genetic factors may also be involved, and ongoing research is exploring these associations.
The frequency of hereditary paraganglioma-pheochromocytoma is relatively rare, with estimates suggesting that it affects about 1 in 5,000 to 1 in 30,000 persons. However, its importance lies not only in its rarity but also in its potential to cause significant health problems, including the development of cancer. Pheochromocytomas, which are tumors that develop in the adrenal glands, can be particularly dangerous if left untreated.
Genetic testing is often required to confirm a diagnosis of hereditary paraganglioma-pheochromocytoma. This testing can identify mutations in the associated genes and help guide treatment decisions. Genetic counselors and specialized centers, such as the Fred Hutchinson Cancer Research Center in Seattle, can provide additional support and resources for individuals and families affected by this condition.
Studies and articles about hereditary paraganglioma-pheochromocytoma are available in medical journals and research databases. Some key resources include the Journal of the American Medical Association (JAMA) and the journal Genetics in Medicine. These publications provide up-to-date information on the latest research findings and treatment options for this condition.
In conclusion, the catalog of genes and diseases from OMIM offers a wealth of information on hereditary paraganglioma-pheochromocytoma. It provides insights into the genetic causes of this condition, highlights the associated genes, and offers resources for further learning and research. For individuals and families affected by hereditary paraganglioma-pheochromocytoma, this catalog serves as an essential tool for understanding and managing this rare genetic disorder.
Scientific Articles on PubMed
Hereditary paraganglioma-pheochromocytoma is a rare condition that is inherited in an autosomal dominant manner. It is characterized by the development of paragangliomas, which are tumors that arise from cells of the parasympathetic nervous system. Pheochromocytomas, tumors that produce hormones such as adrenaline and noradrenaline, may also be present.
Research has identified several genes that are associated with hereditary paraganglioma-pheochromocytoma, including SDHB, SDHC, and SDHD. These genes are involved in the production of proteins that are required for the proper function of the mitochondrial electron transport chain, which is responsible for generating energy in cells. Mutations in these genes can disrupt the function of the electron transport chain and lead to the development of tumors.
Scientific articles on PubMed provide valuable information about the inheritance pattern, symptoms, diagnosis, and treatment of hereditary paraganglioma-pheochromocytoma. These articles contribute to our understanding of the condition and provide important insights for healthcare professionals and researchers.
For example, a study published in JAMA Oncology investigated the frequency of SDHB, SDHC, and SDHD mutations in a cohort of patients with paragangliomas and pheochromocytomas. The researchers found that approximately 30% of the patients in the study had mutations in one of these genes. Further research is needed to identify other genes that may be involved in the development of these tumors.
Advocacy groups, such as the Pheo Para Alliance, also provide information and support for individuals and families affected by hereditary paraganglioma-pheochromocytoma. These organizations help raise awareness about the condition and offer resources for genetic counseling, treatment options, and patient advocacy.
More studies are needed to fully understand the genetic and molecular mechanisms underlying hereditary paraganglioma-pheochromocytoma. The identification of additional genes and pathways involved in the development of these tumors may lead to improved diagnostic and therapeutic approaches.
References:
- Gimenez-Roqueplo AP, Burnichon N, Amar L, Favier J, Jeunemaitre X, Plouin PF. Recent advances in the genetics of phaeochromocytoma and functional paraganglioma. Clin Exp Pharmacol Physiol. 2008 Dec;35(12):1358-61. doi: 10.1111/j.1440-1681.2008.05028.x. PMID: 19018769.
- Benn DE, Croxson MS, Tucker K, Bambach CP, Richardson AL, Delbridge LW, Pullan PT, Hammond J, Marsh DJ, Robinson BG. Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas. Oncogene. 2003 Jun 5;22(23):4021-6. doi: 10.1038/sj.onc.1206635. PMID: 12789256.
- OMIM. Hereditary paraganglioma-pheochromocytoma. Accessed November 15, 2021. https://www.omim.org/entry/115310
References
- Gimenez-Roqueplo, A. P., Burnichon, N., Amar, L., Favier, J., Jeunemaitre, X., and Plouin, P. F. (2008). Recent advances in the genetics of phaeochromocytoma and paraganglioma. J. Med. Genet. 45: 289-299.
- Genetic and Rare Diseases Information Center. (2020). Paraganglioma-pheochromocytoma syndrome. Retrieved from https://rarediseases.info.nih.gov/diseases/12110/paraganglioma-pheochromocytoma-syndrome
- Hearing Loss Association of America. (n.d.). Genes Associated with Hearing Loss. Retrieved from https://www.hearingloss.org/hearing-help/genetics/genes-associated-with-hearing-loss/
- OMIM. (2020). SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT C, INTEGRAL MEMBRANE PROTEIN; SDHC. Retrieved from https://omim.org/entry/602413
- Rustin, P. (2015). Paraganglioma-pheochromocytoma: oxygen causes situational cancer. JAMA Oncol. 1(6): 779-780.
- National Institutes of Health. (2020). Genetics Home Reference: paraganglioma-pheochromocytoma syndrome. Retrieved from https://ghr.nlm.nih.gov/condition/paraganglioma-pheochromocytoma-syndrome
- Seattle Children’s Hospital. (n.d.). Pediatric Pheochromocytoma and Paraganglioma Program. Retrieved from http://www.seattlechildrens.org/clinics-programs/cancer/blood-disorders-adolescent-young-adult/oncogenetics-clinic/types-of-cancer-we-treat/pediatric-pheochromocytoma-paraganglioma-program/