Nephronophthisis
Nephronophthisis
Definition
Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure.
Also known as medullary cystic kidney, nephronophthisis, nephronophthisis (disease) — per MONDO
Also identified as
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Adult mammalian kidney | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Adult mammalian kidney | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Genitourinary system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Genitourinary system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Renal system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Renal system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |