Senior–Løken syndrome
| Senior–Løken syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 266900 606996 609254 |
| DiseasesDB | 29875 |
Senior–Løken syndrome is a congenital eye disorder, first characterized in 1961.[1][2][3] It is a rare, ciliopathic, autosomal recessive disorder characterized by nephronophthisis and progressive eye disease.[4]
Genetics
Genes involved include:
| Type | OMIM | Genes |
|---|---|---|
| SLSN1 | 266900 | NPHP1 |
| SLSN3 | 606995 | unknown |
| SLSN4 | 606996 | NPHP4 |
| SLSN5 | 609254 | NPHP5/IQCB1[5] |
| SLSN6 | 610189 | NPHP6/CEP290 |
| SLSN7 | 613615 | SDCCAG8 |
Pathophysiology
The cause of Senior–Løken syndrome type 5 has been identified to mutation in the NPHP1 gene which adversely affects the protein formation mechanism of the cilia.[6]
Relation to other rare genetic disorders
Recent findings in genetic research have suggested that a large number of genetic disorders, both genetic syndromes and genetic diseases, that were not previously identified in the medical literature as related, may be, in fact, highly related in the genetypical root cause of the widely varying, phenotypically-observed disorders. Such diseases are becoming known as ciliopathies. Known ciliopathies include primary ciliary dyskinesia, Bardet–Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, Meckel–Gruber syndrome and some forms of retinal degeneration.[4]
References
- ↑ synd/1861 at Who Named It?
- ↑ Senior B, Friedmann AI, Brando JL (1961). "Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy". Am. J. Ophthalmol. 52: 625–33. PMID 13910672.
- ↑ Loken AC, Hanssen O, Halvorsen S, Jolster NJ (1961). "Hereditary renal dysplasia and blindness". Acta paediatrica. 50 (2): 177–84. doi:10.1111/j.1651-2227.1961.tb08037.x. PMID 13763238.
- 1 2 Badano, Jose L.; Norimasa Mitsuma; Phil L. Beales; Nicholas Katsanis (2006). "The Ciliopathies: An Emerging Class of Human Genetic Disorders". Annual Review of Genomics and Human Genetics. 7 (1): 125–148. doi:10.1146/annurev.genom.7.080505.115610. PMID 16722803. Retrieved 2008-06-15..
- ↑ Otto EA, Loeys B, Khanna H, et al. (March 2005). "Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin". Nat. Genet. 37 (3): 282–8. doi:10.1038/ng1520. PMID 15723066.
- ↑ Davenport, James R.; Bradley K. Yoder (2005). "An incredible decade for the primary cilium : a look at a once-forgotten organelle". American Journal of Physiology. Renal Physiology. American Physiological Society. 289 (6): F1159–F1169. doi:10.1152/ajprenal.00118.2005. PMID 16275743. Retrieved 2008-06-18..
External links
- OMIM: 266900 Senior-Løken syndrome; Renal dysplasia retinal aplasia; Juvenile nephronophthisis with Leber amaurosis at NIH's Office of Rare Diseases
- OMIM: 606996 Senior-Løken syndrome 4 at NIH's Office of Rare Diseases