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|
|Edema of the lower limbs||
Fluid accumulation in lower limbs
Decreased blood leukocyte number
Puffiness around the eyes
Swelling around the eyes
High urine protein levels
Protein in urine
Renal failure in adulthood
Ringing in ears
Ringing in the ears
|5%-29% of people have these symptoms|
|Abdominal situs inversus||0003363|
Extreme sensitivity of the eyes to light
Low platelet count
|Percent of people who have these symptoms is not available through HPO|
|Diffuse glomerular basement membrane lamellation||0030034|
|Stage 5 chronic kidney disease||0003774|
|Thickening of the glomerular basement membrane||0004722|
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.
2015 Collagen Gordon Research Conference and Gordon Research Seminar
Sunday, July 12, 2015 -
Friday, July 17, 2015
Location: New London, NH
Description: The 2015 Collagen GRC program will include invited and platform presentations as well as posters on (a) new data and concepts about the genetics, chemistry, biology and pathology of collagens; (b) advances in closely related areas of research, such as cell-matrix interactions, developmental biology and diseases of connective tissues, and bioengineering, that are relevant to the collagen field; (c) new and emerging technologies and approaches that may be applied to the collagen field.
Contact: Hung Tseng, Ph.D., (301) 496-0810, email@example.com
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
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