Definition of Nephronophthisis. Meaning of Nephronophthisis. Synonyms of Nephronophthisis

- adolescent forms of nephronophthisis have been identified. Although the range of characterizations is broad, people affected by nephronophthisis typically present...
- Juvenile nephronophthisis is the juvenile form of nephronophthisis that causes end stage kidney disease around the age of 13; infantile nephronophthisis and...
- interacts with nephrocystin. Mutations in this gene are ****ociated with nephronophthisis type 4. Multiple alternative transcript variants have been described...
- upper limb Juvenile myoclonic epilepsy Juvenile nephronophthisis Juvenile rheumatoid arthritis Juvenile temporal arteritis Juliannite nephronophthisis...
- domain 3 (SH3) patterns. Mutations in this gene cause familial juvenile nephronophthisis. NPHP1 has been shown to interact with BCAR1, PTK2B, Filamin and INVS...
- development and function. Mutations in this gene are ****ociated with nephronophthisis type 3. Multiple splice variants have been described but their full-length...
- pattern. Mutations in XPNPEP3 gene have been identified as a cause of a nephronophthisis-like disease. The XPNPEP3 gene is located at chromosome 22q13.2, consisting...
- cystitis urinary tract infection renal tubular acidosis Fanconi syndrome nephronophthisis (genetic) Hormonal hypokalemia diabetes mellitus corticosteroid use...
- dyskinesia, Bardet–Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, Meckel–Gruber syndrome and some forms of retinal...
- 1997). "A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1". Nat Genet. 17 (2): 149–53. doi:10.1038/ng1097-149. PMID 9326933...