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 |
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Diarrhea |
Watery stool
|
0002014 |
| Dystrophic fingernails |
Poor fingernail formation
|
0008391 |
| Dystrophic toenail |
Poor toenail formation
|
0001810 |
| Generalized hyperpigmentation | 0007440 | |
| Hamartomatous polyposis | 0004390 | |
| Hypoplastic toenails |
Underdeveloped toenails
|
0001800 |
| Intestinal polyposis | 0200008 | |
| Malabsorption |
Intestinal malabsorption
|
0002024 |
| Patchy alopecia |
Patchy baldness
|
0002232 |
| 30%-79% of people have these symptoms | ||
| Abdominal pain |
Pain in stomach
Stomach pain
[ more ]
|
0002027 |
|
Low number of red blood cells or hemoglobin
|
0001903 | |
| Anorexia | 0002039 | |
| Aplasia/Hypoplasia of the eyebrow |
Absence of eyebrow
Lack of eyebrow
Missing eyebrow
[ more ]
|
0100840 |
| Cachexia |
Wasting syndrome
|
0004326 |
| Fatigue |
Tired
Tiredness
[ more ]
|
0012378 |
| Lymphedema |
Swelling caused by excess lymph fluid under skin
|
0001004 |
| Sparse body hair | 0002231 | |
| 5%-29% of people have these symptoms | ||
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Colon |
0003003 | |
| Decreased taste sensation |
Decreased taste
|
0000224 |
| Furrowed tongue |
Grooved tongue
|
0000221 |
| Gastrointestinal carcinoma | 0002672 | |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
| 0001250 | ||
| Splenomegaly |
Increased spleen size
|
0001744 |
| Stomach cancer | 0012126 | |
| Tapered finger |
Tapered fingertips
Tapering fingers
[ more ]
|
0001182 |
| Percent of people who have these symptoms is not available through HPO | ||
| Alopecia |
Hair loss
|
0001596 |
| Clubbing |
Clubbing of fingers and toes
|
0001217 |
| Clubbing of fingers |
Clubbed fingers
Clubbing (hands)
Finger clubbing
[ more ]
|
0100759 |
| Glossitis |
Inflammation of the tongue
Smooth swollen tongue
[ more ]
|
0000206 |
| Hematochezia |
Rectal bleeding
|
0002573 |
| Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
| Hypocalcemia |
Low blood calcium levels
|
0002901 |
| Hypokalemia |
Low blood potassium levels
|
0002900 |
| Hypomagnesemia |
Low blood magnesium levels
|
0002917 |
| Muscle weakness |
Muscular weakness
|
0001324 |
| Nail dysplasia |
Atypical nail growth
|
0002164 |
| Nail dystrophy |
Poor nail formation
|
0008404 |
| Paresthesia |
Pins and needles feeling
Tingling
[ more ]
|
0003401 |
| 0002243 | ||
| Sporadic |
No previous family history
|
0003745 |
| Thromboembolism | 0001907 | |
| Vomiting |
Throwing up
|
0002013 |
| Xerostomia |
Dry mouth
Dry mouth syndrome
Reduced salivation
[ more ]
|
0000217 |
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 diagnosis includes familial adenomatous polyposis, hyperplastic polyposis syndrome, cap polyposis, juvenile polyposis syndrome, Peutz-Jeghers syndrome and Cowden syndrome (see these terms), as well as lipomatous polyposis, inflammatory polyposis and lymphomatous polyposis.
Visit the
Orphanet disease page
for more information.
|
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.
