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GTR Home > Conditions/Phenotypes > Alport syndrome


Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities.\n\nPeople with Alport syndrome experience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys. Many people with Alport syndrome also develop high levels of protein in their urine (proteinuria). The kidneys gradually lose their ability to efficiently remove waste products from the body, resulting in end-stage kidney disease (ESKD).\n\n\n\nIn late childhood or early adolescence, many people with Alport syndrome develop sensorineural hearing loss, which is caused by abnormalities of the inner ear. Affected individuals may also have misshapen lenses in their eyes (anterior lenticonus) and abnormal coloration of the retina, which is the light-sensitive tissue at the back of the eye. These eye abnormalities seldom lead to vision loss. [from MedlinePlus Genetics]

Genes See tests for all associated and related genes

  • Also known as: ATS2, ATS3, ATS3A, ATS3B, BFH2, COL4A3
    Summary: collagen type IV alpha 3 chain

  • Also known as: ATS2, BFH, BFH1, CA44, COL4A4
    Summary: collagen type IV alpha 4 chain

  • Also known as: ASLN, ATS, ATS1, CA54, COL4A5
    Summary: collagen type IV alpha 5 chain

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