Nephronophthisis-Juvenile
| Disorder | |
|---|---|
| OMIM #: | #256100 (Click to access OMIM database) |
| Disorder: | Nephronophthisis-Juvenile |
| Also known as: | NPH1 NEPHRONOPHTHISIS, FAMILIAL JUVENILE NEPHRONOPHTHISIS 1 |
| Clinical | |
| Phenotype: | polydipsia, polydipsia, fanconi syndrome, growth deficiency, renal insufficiency, end stage renal disease occurs at average age of 13, can also have oculomotor apraxia and retinal dystrophy associated with renal disease |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Hutterite | |
| Gene: | NPHP1 |
| Base Change: | |
| Amino Acid Change: | 290kb homozygous deletions on chromosome 2q13 |
| Last updated: | 2022-11-11 |
| References |
|---|
| Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Møller LB and, Innes AM. (2008) Clinical genetics and the Hutterite population: a review of Mendelian disorders. Am J Med Genet A 146A(8):1088-98. PubMed ID: 18348266 |
| Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adolphs J, Hanusch H and, Brandis M. (1997) A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Nat Genet 17(2):149-53. PubMed ID: 9326933 |
| Konrad M, Saunier S, Heidet L, Silbermann F, Benessy F, Calado J, Le Paslier D, Broyer M, Gubler MC and, Antignac C. (1996) Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. Hum Mol Genet 5(3):367-71. PubMed ID: 8852662 |
| Saunier S, Calado J, Heilig R, Silbermann F, Benessy F, Morin G, Konrad M, Broyer M, Gubler MC, Weissenbach J and, Antignac C. (1997) A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis. Hum Mol Genet 6(13):2317-23. PubMed ID: 9361039 |
Back