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]
^ abBadano, 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..
^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. S2CID 4972004.
^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. 289 (6). American Physiological Society: F1159–F1169. doi:10.1152/ajprenal.00118.2005. PMID 16275743..
External linksedit
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
NCBI Genetic Testing Registry
April 12, 2024
senior, løken, syndrome, congenital, disorder, first, characterized, 1961, rare, ciliopathic, autosomal, recessive, disorder, characterized, juvenile, nephronophthis, progressive, disease, other, namesrenal, dysplasia, retinal, aplasia, syndrome, autosomal, re. Senior Loken syndrome is a congenital eye disorder first characterized in 1961 1 2 3 It is a rare ciliopathic autosomal recessive disorder characterized by juvenile nephronophthis and progressive eye disease 4 Senior Loken syndromeOther namesRenal dysplasia retinal aplasia syndromeSenior Loken syndrome is an autosomal recessive inherited conditionSpecialtyMedical genetics Contents 1 Genetics 2 Pathophysiology 2 1 Relation to other rare genetic disorders 3 Diagnosis 4 Treatment 5 References 6 External linksGenetics editGenes involved include Type OMIM GenesSLSN1 266900 NPHP1SLSN3 606995 unknownSLSN4 606996 NPHP4SLSN5 609254 NPHP5 IQCB1 5 SLSN6 610189 NPHP6 CEP290SLSN7 613615 SDCCAG8Pathophysiology editThe 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 6 Relation to other rare genetic disorders edit 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 Diagnosis editThis section is empty You can help by adding to it August 2017 Treatment editThis section is empty You can help by adding to it August 2017 References edit 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 doi 10 1016 0002 9394 61 90147 7 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 S2CID 221396498 a b 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 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 S2CID 4972004 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 289 6 American Physiological Society F1159 F1169 doi 10 1152 ajprenal 00118 2005 PMID 16275743 External links editOMIM 266900 Senior Loken syndrome Renal dysplasia retinal aplasia Juvenile nephronophthisis with Leber amaurosis at NIH s Office of Rare Diseases OMIM 606996 Senior Loken syndrome 4 at NIH s Office of Rare Diseases NCBI Genetic Testing Registry Retrieved from https en wikipedia org w index php title Senior Loken syndrome amp oldid 1183657887, wikipedia, wiki, book, books, library,
