Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
hereditary nephritis |
| gptkbp:affects |
ears
kidneys eyes |
| gptkbp:causedBy |
mutations in COL4A3 gene
mutations in COL4A4 gene mutations in COL4A5 gene |
| gptkbp:diagnosedBy |
genetic testing
urinalysis kidney biopsy |
| gptkbp:firstDescribed |
1927
|
| gptkbp:hasOrphanetID |
52
|
| https://www.w3.org/2000/01/rdf-schema#label |
Alport syndrome
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive X-linked dominant |
| gptkbp:MeSH_ID |
D000587
|
| gptkbp:namedAfter |
Arthur Cecil Alport
|
| gptkbp:OMIM |
301050
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
hematuria
proteinuria sensorineural hearing loss ocular abnormalities progressive renal failure |
| gptkbp:treatment |
gptkb:angiotensin_receptor_blockers
kidney transplantation ACE inhibitors |
| gptkbp:bfsParent |
gptkb:PAS_stain
|
| gptkbp:bfsLayer |
6
|