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||
|80%-99% of people have these symptoms|
Low blood potassium levels
Cancer of the pancreas
Pancreatic tumor[ more ]
|30%-79% of people have these symptoms|
Chronic extreme exhaustion
|Episodic abdominal pain||0002574|
|Generalized muscle weakness||0003324|
High blood calcium levels
Increased calcium in blood[ more ]
|Nausea and vomiting||0002017|
|5%-29% of people have these symptoms|
|Abnormal gastrointestinal motility||0030895|
Accumulation of fluid in the abdomen
Intermittent yellow skin
Intermittent yellowing of skin[ more ]
|1%-4% of people have these symptoms|
|Benign gastrointestinal tract tumors||
Non-cancerous GI tumors
|Follicular thyroid carcinoma||0006731|
|Growth hormone excess||0000845|
|Increased circulating cortisol level||0003118|
|Increased circulating gonadotropin level||
Elevated serum gonadotropins
Gonadotropin excess[ more ]
|Neoplasm of the liver||
Liver tumor[ more ]
Noncancerous tumor in pituitary gland
|Respiratory insufficiency due to muscle weakness||
Decreased lung function due to weak breathing muscles
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Learn more orphan products.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include all other causes of chronic diarrhea such as malabsorption syndrome, Crohn disease, ulcerative colitis, microscopic colitis (see these terms), and gastrointestinal infections.
Visit the Orphanet disease page for more information.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.