Senior-Løken syndrome

Senior-Løken syndrome

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 29875
ICD10 =
ICD9 =
ICDO =
OMIM = 266900
OMIM_mult = OMIM2|606996 OMIM2|609254
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =

Senior-Løken syndrome is a congenital eye disorder, first characterized in 1961. [WhoNamedIt|synd|1861] cite journal |author=Senior B, Friedmann AI, Brando JL |title=Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy |journal=Am. J. Ophthalmol. |volume=52 |issue= |pages=625–33 |year=1961 |pmid=13910672 |doi=] cite journal |author=Loken AC, Hanssen O, Halvorsen S, Jolster NJ |title=Hereditary renal dysplasia and blindness |journal=Acta paediatrica |volume=50 |issue= |pages=177–84 |year=1961 |pmid=13763238 |doi=] It is a rare autosomal recessive disorder characterized by nephronophthisis and progressive eye disease.cite journal
last = Badano
first = Jose L.
authorlink =
coauthors = Norimasa Mitsuma, Phil L. Beales, Nicholas Katsanis
title = The Ciliopathies: An Emerging Class of Human Genetic Disorders
journal = Annual Review of Genomics and Human Genetics
volume = 7
issue =
pages = 125–148
publisher =
location =
date = 2006
url = http://arjournals.annualreviews.org/doi/abs/10.1146/annurev.genom.7.080505.115610
doi = 10.1146/annurev.genom.7.080505.115610
id =
accessdate = 2008-06-15.]

Genetics

Genes involved include:
* NPHP1cite journal
last = Davenport
first = James R.
authorlink =
coauthors = Bradley K. Yoder
title = An incredible decade for the primary cilium : a look at a once-forgotten organelle
journal = American Journal Physiology - Renal Physiology
volume = 289
issue =
pages = F1159-F1169
publisher = American Physiological Society
location =
date = 2005
url = http://ajprenal.physiology.org/cgi/content/abstract/289/6/F1159
doi = 10.1152/ajprenal.00118.2005
id =
accessdate =2008-06-18 .]
* NPHP4cite journal |author=Schuermann MJ, Otto E, Becker A, "et al" |title=Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36 |journal=Am. J. Hum. Genet. |volume=70 |issue=5 |pages=1240–6 |year=2002 |month=May |pmid=11920287 |pmc=447598 |doi=10.1086/340317 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)62516-6]
* IQCB1cite journal |author=Otto EA, Loeys B, Khanna H, "et al" |title=Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin |journal=Nat. Genet. |volume=37 |issue=3 |pages=282–8 |year=2005 |month=March |pmid=15723066 |doi=10.1038/ng1520 |url=http://dx.doi.org/10.1038/ng1520]

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

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.

References

External Links

*OMIM3|266900 RareDiseases|322|Senior-Løken syndrome; Renal dysplasia retinal aplasia; Juvenile nephronophthisis with Leber amaurosis
*OMIM3|606996 RareDiseases|9293|Senior-Løken syndrome 4


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