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 ]

Synonyms:

Hereditary Nephritis

Alport's Syndrome

Alport Syndrome

This is just here as a test because I lose it

Term information

Subsets

NCIT_C90259, NCIT_C123272, NCIT_C165258

ALT DEFINITION
  • 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.
Contributing Source
  • Cellosaurus
  • NICHD
Legacy Concept Name
  • Alport_s_Syndrome
Preferred Name
  • Alport Syndrome
Semantic Type
  • Disease or Syndrome
UMLS CUI
  • C1567741
code
  • C34842