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 | ||
| Abnormality of the gastric mucosa |
Abnormality of the mucous membrane layer of stomach
|
0004295 |
| Fatigue |
Tired
Tiredness
[ more ]
|
0012378 |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Myalgia |
Muscle ache
Muscle pain
[ more ]
|
0003326 |
| Pruritus |
Itching
Itchy skin
Skin itching
[ more ]
|
0000989 |
| 30%-79% of people have these symptoms | ||
|
Joint inflammation
|
0001369 | |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
|
0002015 | |
| Fever | 0001945 | |
| Irregular hyperpigmentation | 0007400 | |
| Keratoconjunctivitis sicca |
Dry eyes
|
0001097 |
| Mucosal telangiectasiae | 0100579 | |
| Sclerodactyly | 0011838 | |
| Skin rash | 0000988 | |
| Skin ulcer |
Open skin sore
|
0200042 |
| Telangiectasia of the skin | 0100585 | |
| Xerostomia |
Dry mouth
Dry mouth syndrome
Reduced salivation
[ more ]
|
0000217 |
| 5%-29% of people have these symptoms | ||
| Ascites |
Accumulation of fluid in the abdomen
|
0001541 |
| Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
| Encephalitis |
Brain inflammation
|
0002383 |
|
Yellow skin
Yellowing of the skin
[ more ]
|
0000952 | |
| Lichenification | 0100725 | |
| Respiratory insufficiency |
Respiratory impairment
|
0002093 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Biliary cirrhosis | 0002613 | |
| Calcinosis |
Calcium buildup in soft tissues of body
|
0003761 |
| Calcinosis cutis | 0025520 | |
| Elevated alkaline phosphatase |
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase
[ more ]
|
0003155 |
| Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
| Gastrointestinal hemorrhage |
Gastrointestinal bleeding
|
0002239 |
| Hyperbilirubinemia |
High blood bilirubin levels
|
0002904 |
| Lip telangiectasia | 0000214 | |
| Palmar telangiectasia | 0100869 | |
| Raynaud phenomenon | 0030880 | |
| Scleroderma | 0100324 | |
| Splenomegaly |
Increased spleen size
|
0001744 |
| Steatorrhea |
Fat in feces
|
0002570 |
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.
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
|
|---|
|
The association with primary sclerosing cholangitis and SSc is extremely rare. Cholestasis in SSc patients may also reflect liver congestion due to right-sided heart failure in cases with severe pulmonary hypertension. Medications (antibiotics, anabolic steroids, birth control pills, chlorpromazine, cimetidine, estradiol) may cause cholestasis similar to that of PBC.
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.
