Loken Senior syndrome: Difference between revisions
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==Pathophysiology== | ==Pathophysiology== | ||
Loken-Senior syndrome is characterized by progressive wasting of the filtering unit of the [[kidney]] ([[nephronophthisis]]), with or without [[medullary cystic renal disease]], and progressive eye disease. Typically this disorder becomes apparent during the first year of life. | |||
===Genetics=== | |||
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. | 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 large number of genetic syndromes and diseases, that have not been previously identified in medical literature as related, may in fact be, highly related in genotypical root cause of widely varying, phenotypically observed disorders. Known ciliopathies include primary ciliary dyskinesia, Bardet-Beidl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstrom's syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.<ref name="pmid16722803">{{cite journal |author=Badano JL, Mitsuma N, Beales PL, Katsanis N |title=The ciliopathies: an emerging class of human genetic disorders |journal=Annu Rev Genomics Hum Genet |volume=7 |issue= |pages=125–48 |year=2006 |pmid=16722803 |doi=10.1146/annurev.genom.7.080505.115610 |url=http://arjournals.annualreviews.org/doi/full/10.1146/annurev.genom.7.080505.115610?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmed}}</ref> | Recent findings in genetic research have suggested that large number of genetic syndromes and diseases, that have not been previously identified in medical literature as related, may in fact be, highly related in genotypical root cause of widely varying, phenotypically observed disorders. Known ciliopathies include primary ciliary dyskinesia, Bardet-Beidl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstrom's syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.<ref name="pmid16722803">{{cite journal |author=Badano JL, Mitsuma N, Beales PL, Katsanis N |title=The ciliopathies: an emerging class of human genetic disorders |journal=Annu Rev Genomics Hum Genet |volume=7 |issue= |pages=125–48 |year=2006 |pmid=16722803 |doi=10.1146/annurev.genom.7.080505.115610 |url=http://arjournals.annualreviews.org/doi/full/10.1146/annurev.genom.7.080505.115610?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%3dpubmed}}</ref> | ||
Revision as of 16:35, 16 August 2012
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]
Overview
Senior–Løken syndrome is a congenital eye disorder, first described in 1961. It is a rare, ciliopathic, autosomal recessive disorder characterized by nephronophthisis and progressive eye disease.[1]
Pathophysiology
Loken-Senior syndrome is characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.
Genetics
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 large number of genetic syndromes and diseases, that have not been previously identified in medical literature as related, may in fact be, highly related in genotypical root cause of widely varying, phenotypically observed disorders. Known ciliopathies include primary ciliary dyskinesia, Bardet-Beidl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstrom's syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.[1]
References
- ↑ 1.0 1.1 Badano JL, Mitsuma N, Beales PL, Katsanis N (2006). "The ciliopathies: an emerging class of human genetic disorders". Annu Rev Genomics Hum Genet. 7: 125–48. doi:10.1146/annurev.genom.7.080505.115610. PMID 16722803.