-
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...
-
upper limb
Juvenile myoclonic epilepsy Juvenile nephronophthisis Juvenile rheumatoid arthritis Juvenile temporal arteritis Juliannite nephronophthisis...
-
include primary ciliary dyskinesia,
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...
-
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...
-
domain 3 (SH3) patterns.
Mutations in this gene
cause familial juvenile nephronophthisis. NPHP1 has been
shown to
interact with BCAR1, PTK2B,
Filamin and INVS...
- dyskinesia, Bardet–Biedl syndrome,
polycystic kidney and
liver disease,
nephronophthisis, Alström syndrome, Meckel–Gruber syndrome,
Sensenbrenner syndrome and...
- dyskinesia, Bardet–Biedl syndrome,
polycystic kidney and
liver disease,
nephronophthisis, Alström syndrome, Meckel–Gruber
syndrome and some
forms of retinal...
