National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Autosomal recessive Alport syndrome


Other Names:
Alport syndrome autosomal recessive; Nephropathy and deafness; Alport syndrome recessive type
Categories:
This disease is grouped under:
Autosomal recessive Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome frequently develop sensorineural hearing loss in late childhood or early adolescence.[1][2] The eye abnormalities seen in this condition seldom lead to vision loss.[1][3] Alport syndrome can have different patterns of inheritance. About 15 percent of Alport syndrome cases are inherited in an autosomal recessive pattern and are caused by mutations in both copies of the COL4A3 or COL4A4 genes.[1] Treatment is based on the symptoms present and may include medications to delay the progression of kidney disease. In most cases, a kidney transplant is eventually needed.[3] 
Last updated: 6/14/2016

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.

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Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Anterior lenticonus 0011501
Autosomal recessive inheritance 0000007
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Corneal erosion
Damage to outer layer of the cornea of the eye
0200020
Diffuse glomerular basement membrane lamellation 0030034
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Hematuria
Blood in urine
0000790
Hypertension 0000822
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Nephritis
Kidney inflammation
0000123
Nephrotic syndrome 0000100
Progressive
Worsens with time
0003676
Proteinuria
High urine protein levels
Protein in urine
[ more ] 		0000093
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
Stage 5 chronic kidney disease 0003774
Thickening of the glomerular basement membrane 0004722
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Last updated: 7/1/2020

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.

Healthcare Resources

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.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Autosomal recessive Alport syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

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.

Organizations Supporting this Disease

Organizations Providing General Support

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.

Where to Start

  • Genetics Home Reference (GHR) contains information on Autosomal recessive Alport syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Autosomal recessive Alport syndrome. Click on the link to view a sample search on this topic.

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

  • My son rejected his first kidney transplant, can I be a donor since I am also a carrier? See answer

  • What causes Alport syndrome? Is it always inherited? See answer


  1. Alport syndrome. Genetics Home Reference. December 2013; http://ghr.nlm.nih.gov/condition/alport-syndrome.
  2. Kashtan CE. Alport Syndrome and Thin Basement Membrane Nephropathy. GeneReviews. November 25, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1207/.
  3. Kashtan C. Alport Syndrome. National Organization for Rare Disorders (NORD). 2014; http://rarediseases.org/rare-diseases/alport-syndrome/.