Disease or Syndrome
Alport syndrome
Also called:
Hereditary Nephritis
Definitions related to alport syndrome:
  • A genetic syndrome caused by abnormalities in the COL4A5 gene that is characterized by hematuria, progressive renal insufficiency, and, in some cases, hearing loss and ocular abnormalities.
    NICHD Pediatric Terminology
    U.S. National Cancer Institute, 2021
  • A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities.
    NCI
    U.S. National Cancer Institute, 2021
  • Hereditary disorder characterized by progressive sensorineural hearing loss, progressive pyelonephritis or glomerulonephritis, and, occasionally, ocular defects; transmitted as an autosomal dominant or X-linked trait.
    CRISP Thesaurus
    National Institutes of Health, 2006
  • Alport syndrome is a genetically heterogeneous disorder characterized by nephritic syndrome (ie, hematuria, proteinuria, hypertension, eventual renal insufficiency) often with sensorineural deafness and, less commonly, ophthalmologic symptoms. Cause is a gene mutation affecting type IV collagen. Diagnosis is by history, including family...
    Merck Manuals
    Merck & Co., Inc., 2025
  • The term Alport syndrome refers to a group of inherited, heterogeneous disorders involving the basement membranes of the kidney and frequently affecting the cochlea and eye as well. These disorders are the result of mutations in type IV collagen genes (see the image below).
    Medscape
    WebMD, 2025
  • 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 also frequently develop sensorineural hearing loss in late childhood or early...
    NIH Genetic and Rare Diseases
    National Center for Advancing Translational Sciences
  • Alport syndrome is an inherited disease of the glomerular basement membrane caused by abnormalities in type IV collagen. It is associated with sensorineural hearing loss, lenticonus (bulging of the lens capsule and the underlying cortex ) and retinal abnormalities, as these tissues are additional sites of expression of type IV collagen....
    Epocrates
    Athenahealth, Inc., 2019
Try this search on: Farlex, Merriam-Webster, Oxford Dictionary, or Wordnik

This content should not be used in place of medically-reviewed decision support reference material or professional medical advice. Some terms may have alternate or updated definitions not reflected in this set. The definitions on this page should not be considered complete or up to date.