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|
Blood in urine
|Morphological abnormality of the semicircular canal||0011380|
Noninflammatory retina disease
|Sensorineural hearing impairment||0000407|
|30%-79% of people have these symptoms|
Clouding of the lens of the eye
Cloudy lens[ more ]
Tiredness[ more ]
Decreased blood leukocyte number
Low white blood cell count[ more ]
Fluid accumulation in lower limbs
Lower leg swelling[ more ]
Puffiness around the eyes
Swelling around the eyes[ more ]
High urine protein levels
Protein in urine[ more ]
Renal failure in adulthood[ more ]
Ringing in ears
Ringing in the ears[ more ]
|5%-29% of people have these symptoms|
|Abdominal situs inversus||0003363|
Swallowing difficulty[ more ]
Nearsightedness[ more ]
Extreme sensitivity of the eyes to light
Light hypersensitivity[ more ]
Firm lump under the skin
Growth of abnormal tissue under the skin[ more ]
Low platelet count
|Percent of people who have these symptoms is not available through HPO|
Damage to outer layer of the cornea of the eye
Clouding of the lens of the eye at birth
|Diffuse glomerular basement membrane lamellation||0030034|
Decreased parathyroid hormone secretion
Small amount of blood in urine
Worsens with time
|Stage 5 chronic kidney disease||0003774|
|Thickening of the glomerular basement membrane||0004722|
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.
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 was just diagnosed with Alport syndrome as an adult. Is this more common in those of Ashkenazi Jewish ancestry? See answer
What damage does Alport syndrome do to the kidney? See answer
My son rejected his first kidney transplant, can I be a donor since I am also a carrier? See answer
My sister's daughter has a son with X-linked Alport syndrome. Although my niece was not genetically tested as a carrier, her doctor assumed she is a carrier because of the large amount of blood in her urine. I have 2 sons and one daughter. I am told that my sons cannot be carriers and therefore don't have to worry about passing on this syndrome. Is that true? Also, how about my daughter? I have not been tested but if I do get tested and am not a carrier, then can I assume she is ok and will not pass down the syndrome to her children? Also, if I have my urine tested for hematuria and I don't have blood, can I assume that I am not a carrier? See answer
What causes Alport syndrome? Is it always inherited? See answer
I have been on hemodialysis for a year as a result of Alport syndrome. My two uncles died of kidney disease associated with this condition. What treatments are available for this condition? See answer