Rare Endocrinology News
Disease Profile
Pheochromocytoma-islet cell tumor syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
#N/A
Age of onset
#N/A
ICD-10
#N/A
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Pheochromocytoma and islet cell tumor of the pancreas
Categories
Hereditary Cancer Syndromes
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Axillary freckling | 0000997 | |
Cafe-au-lait spot | 0000957 | |
Cerebral hemorrhage |
Bleeding in brain
|
0001342 |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 |
Elevated urinary norepinephrine | 0003345 | |
Episodic |
Intermittent high blood pressure
|
0000875 |
Hypercalcemia |
High blood calcium levels
Increased calcium in blood
[ more ] |
0003072 |
Hyperhidrosis |
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ] |
0000975 |
Hypertensive retinopathy | 0001095 | |
Pheochromocytoma | 0002666 | |
Positive regitine blocking test | 0003574 | |
High urine protein levels
Protein in urine
[ more ] |
0000093 | |
Tachycardia |
Fast heart rate
Heart racing
Racing heart
[ more ] |
0001649 |
Treatment
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Iobenguane I 123(Brand name: Adreview™) Manufactured by GE Healthcare, Inc
FDA-approved indication: To be used in the detection of primary or metastatic pheochromocytomas or neuroblastomas as an adjunct to other diagnostic tests
National Library of Medicine Drug Information Portal - Iobenguane I 131(Brand name: Azedra) Manufactured by Progenics Pharmaceuticals, Inc.
FDA-approved indication: July 2018, iobenguane I 131 (Azedra) was approved for the treatment of adult and pediatric patients 12 years and older with iobenguane scan positive, unresectable, locally advanced or metastatic pheochromocytoma or paraganglioma who require systemic anticancer therapy.
National Library of Medicine Drug Information Portal
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Children's Tumor Foundation (CTF)
120 Wall Street, 16th floor
New York, NY 10005-3904
Toll-free: 1-800-323-7938
Telephone: +1-212-344-6633
Fax: +1-212-747-0004
E-mail: [email protected]
Website: https://www.ctf.org/ -
Nerve Tumours UK
1st Floor
44 Coombe Lane
London, SW20 0LA United Kingdom
Toll-free: 07939 046 030 (Helpline)
Telephone: 44(0)208 439 1234
E-mail: [email protected]
Website: https://nervetumours.org.uk -
North American Neuroendocrine Tumor Society (NANETS)
136 Everett Road
Albany, NY 12205
Telephone: (650) 762-6387
E-mail: [email protected]
Website: https://nanets.net/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Pheochromocytoma-islet cell tumor syndrome. Click on the link to view a sample search on this topic.