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|
|Abnormal pigmentation of the oral mucosa||0100669|
|30%-79% of people have these symptoms|
|5%-29% of people have these symptoms|
Pain in stomach
Stomach pain[ more ]
|Abnormality of the gallbladder||0005264|
|Abnormality of the ureter||0000069|
Low number of red blood cells or hemoglobin
|Biliary tract neoplasm||0100574|
|Enlarged polycystic ovaries||
Enlarged ovaries with cysts
Death of digestive organ tissue due to poor blood supply
Intestinal blockage[ more ]
|Multiple renal cysts||
Multiple kidney cysts
|Neoplasm of the colon||
|Neoplasm of the lung||
|Neoplasm of the nose||
Tumor of the nose[ more ]
|Neoplasm of the rectum||
|Neoplasm of the small intestine||
Small intestine tumor
Rectum protrudes through anus
Cancer starting in small tubes in kidneys
|Percent of people who have these symptoms is not available through HPO|
|Biliary tract abnormality||0001080|
Clubbing of fingers and toes
|Clubbing of fingers||
Finger clubbing[ more ]
Enlarged male breast
|Iron deficiency anemia||0001891|
|Labial melanotic macule||0032454|
|Neoplasm of the pancreas||
Cancer of the pancreas
Pancreatic tumor[ more ]
|Oral melanotic macule||0032451|
|Precocious puberty with Sertoli cell tumor||0008204|
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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 juvenile polyposis syndrome, hereditary mixed polyposis syndrome, the PTEN hamartoma tumor syndromes, and Carney complex.
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. Submit a new question
I have many dark colored spots on my lips, inside my cheek, and on my gum. These spots developed while I was in my thirties. Although I do not have gastrointestinal symptoms and my family history is negative, my dermatologist has suggested the possibility of Peutz-Jeghers syndrome (PJS). I am concerned about the high incidence of cancer in PJS patients and would like to know if definitive testing is available. See answer