Senior-Løken syndrome
| Senior-Løken syndrome | |
| OMIM | 266900 606996 609254 |
|---|---|
| DiseasesDB | 29875 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Senior-Løken syndrome is a congenital eye disorder, first characterized in 1961.[1][2][3] It is a rare autosomal recessive disorder characterized by nephronophthisis and progressive eye disease.[4]
Pathophysiology
The cause of Senior-Loken syndrome type 5 has been identified to mutation in the NPHP1 gene which adversely affects the protein formation mechanism of the cilia[5]
Genetics
Genes involved include:
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, Alstrom syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.[4]
References
- ↑ Template:WhoNamedIt
- ↑ 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: 177–84. PMID 13763238.
- ↑ 4.0 4.1 Badano, Jose L. (2006). "The Ciliopathies: An Emerging Class of Human Genetic Disorders". Annual Review of Genomics and Human Genetics. 7: 125–148. doi:10.1146/annurev.genom.7.080505.115610. Retrieved 2008-06-15. Unknown parameter
|coauthors=ignored (help). - ↑ 5.0 5.1 Davenport, James R. (2005). "An incredible decade for the primary cilium : a look at a once-forgotten [[organelle]]". American Journal Physiology - Renal Physiology. American Physiological Society. 289: F1159–F1169. doi:10.1152/ajprenal.00118.2005. Retrieved 2008-06-18. Unknown parameter
|coauthors=ignored (help); URL–wikilink conflict (help). - ↑ Schuermann MJ, Otto E, Becker A; et al. (2002). "Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36". Am. J. Hum. Genet. 70 (5): 1240–6. doi:10.1086/340317. PMC 447598. PMID 11920287. Unknown parameter
|month=ignored (help) - ↑ Otto EA, Loeys B, Khanna H; et al. (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. Unknown parameter
|month=ignored (help)
External links
- OMIM: 266900 Template:RareDiseases
- OMIM: 606996 Template:RareDiseases