| 词条 | Senior–Løken syndrome | |||||||||||||||||||||
| 释义 |
| 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 | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Senior–Løken syndrome is a congenital eye disorder, first characterized in 1961.[1][2][3] It is a rare, ciliopathic, autosomal recessive disorder characterized by nephronophthisis and progressive eye disease.[4] GeneticsGenes involved include:
PathophysiologyThe 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] Relation to other rare genetic disordersRecent 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.[4] Diagnosis{{Empty section|date=August 2017}}Treatment{{Empty section|date=August 2017}}References1. ^{{WhoNamedIt|synd|1861}} 2. ^{{cite journal |vauthors=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=10.1016/0002-9394(61)90147-7}} 3. ^{{cite journal |vauthors=Loken AC, Hanssen O, Halvorsen S, Jolster NJ |title=Hereditary renal dysplasia and blindness |journal=Acta Paediatrica |volume=50 |issue= 2|pages=177–84 |year=1961 |pmid=13763238 |doi=10.1111/j.1651-2227.1961.tb08037.x}} 4. ^1 {{cite journal | last = Badano | first = Jose L. |author2=Norimasa Mitsuma |author3=Phil L. Beales |author4=Nicholas Katsanis | title = The Ciliopathies: An Emerging Class of Human Genetic Disorders | journal = Annual Review of Genomics and Human Genetics | volume = 7 | issue = 1| pages = 125–148 | publisher = | location = | year = 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 | pmid = 16722803}}. 5. ^{{cite journal |vauthors=Otto EA, Loeys B, Khanna H, etal |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 |date=March 2005 |pmid=15723066 |doi=10.1038/ng1520}} 6. ^{{cite journal | last = Davenport | first = James R. |author2=Bradley K. Yoder | title = An incredible decade for the primary cilium : a look at a once-forgotten organelle | journal = American Journal of Physiology. Renal Physiology | volume = 289 | issue = 6 | pages = F1159–F1169 | publisher = American Physiological Society | location = | year = 2005 | url = http://ajprenal.physiology.org/cgi/content/abstract/289/6/F1159 | doi = 10.1152/ajprenal.00118.2005 | id = | accessdate =2008-06-18 | pmid = 16275743 }}. External links{{Medical resources| DiseasesDB = 29875 | ICD10 = Q61.5 | ICD9 = | ICDO = | OMIM = 266900 | OMIM_mult = {{OMIM2|606996}} {{OMIM2|609254}} | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = C537580 | Orphanet = 3156 }}
5 : Congenital disorders|Autosomal recessive disorders|Rare diseases|Syndromes affecting the eyes|Ciliopathy |
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