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 urinary color||
Abnormal urinary colour
Abnormal urine color[ more ]
|Abnormality of the heme biosynthetic pathway||0010472|
|30%-79% of people have these symptoms|
Pain in stomach
Stomach pain[ more ]
|Abnormal blistering of the skin||
Blisters[ more ]
|Abnormality of skin pigmentation||
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary skin changes
Pigmentation anomaly[ more ]
Photosensitive skin rashes
Sensitivity to sunlight
Sun sensitivity[ more ]
Tiredness[ more ]
|Nausea and vomiting||0002017|
Skin itching[ more ]
Trouble sleeping[ more ]
|5%-29% of people have these symptoms|
Sensory hallucination[ more ]
Pins and needles feeling
Tingling[ more ]
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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, when patients present with acute attacks, Guillain-Barré syndrome (see this term) and all causes of acute abdominal pain, and, when patients present with cutaneous signs, photodermatoses.
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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 would like to be tested for porphyria. How is this condition diagnosed? Is genetic testing available? See answer
What can you tell me about acute intermittent porphyria and Chester porphyria? See answer