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Senior–Løken syndrome

Congenital eye disorder

Field	Value
synonyms	Renal dysplasia-retinal aplasia syndrome
name	Senior–Løken syndrome
image	Autosomal recessive - en.svg
caption	Senior–Løken syndrome is an autosomal recessive inherited condition

Senior–Løken syndrome is a congenital eye disorder, first characterized in 1961. It is a rare, ciliopathic, autosomal recessive disorder characterized by juvenile nephronophthis and progressive eye disease.

Genetics

Genes involved include:

Type	OMIM	Genes
SLSN1	{{OMIM	266900	none}}
SLSN3	{{OMIM	606995	none}}
SLSN4	{{OMIM	606996	none}}
SLSN5	{{OMIM	609254	none}}
SLSN6	{{OMIM	610189	none}}
SLSN7	{{OMIM	613615	none}}

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.

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.

References

{{WhoNamedIt. synd. 1861
(1961). "Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy". Am. J. Ophthalmol..
(1961). "Hereditary renal dysplasia and blindness". [[Acta Paediatrica]].
Badano, Jose L.. (2006). "The Ciliopathies: An Emerging Class of Human Genetic Disorders". Annual Review of Genomics and Human Genetics.
(March 2005). "Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin". Nat. Genet..
Davenport, James R.. (2005). "An incredible decade for the primary cilium : a look at a once-forgotten organelle". American Physiological Society.

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

congenital-disorders autosomal-recessive-disorders rare-diseases syndromes-affecting-the-eye ciliopathy

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