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
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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
Term relations
Subclass of:
Related from: