Nephronophthisis 1
Nephronophthisis 1
Definition
Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.
Also known as familial juvenile nephronophthisis, juvenile nephronophthisis, nephronophthisis (disease) caused by mutation in NPHP1, nephronophthisis 1, nephronophthisis 1, juvenile, nephronophthisis type 1, NPH1, NPHP1, NPHP1 nephronophthisis (disease) — per MONDO
Also identified as
- DOID 0111112 per MONDO
- MESH C537699 per MONDO
- NCIT C74998 per MONDO
- OMIM 256100 per MONDO
- Orphanet 93592 per MONDO
- SCTID 444830001 per MONDO
- UMLS C1855681 per MONDO
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 |