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Senior-Loken-Syndrom 9

Senior-Loken-Syndrom 9 ist eine autosomal rezessive Erkrankung mit medullären Nierenzysten, die durch Mutationen im TRAF3IP1-Gen hervorgerufen wird. Neben einer meist im Kindesalter beginnenden progressive Niereninsuffizienz ist die Erkrankung mit einer Leberschen Amaurose vergesellschaftet.

Gliederung

Senior-Loken-Syndrom
Senior-Loken-Syndrom 1
Senior-Loken-Syndrom 3
Senior-Loken-Syndrom 4
Senior-Loken-Syndrom 5
Senior-Loken-Syndrom 6
Senior-Loken-Syndrom 7
Senior-Loken-Syndrom 8
Senior-Loken-Syndrom 9
TRAF3IP1

Referenzen:

1.

Boichis H et al. (1973) Congenital hepatic fibrosis and nephronophthisis. A family study.

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2.

Bizet AA et al. (2015) Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization.

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3.

Berbari NF et al. (2011) Mutations in Traf3ip1 reveal defects in ciliogenesis, embryonic development, and altered cell size regulation.

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4.

Fairley KF et al. (1963) Familial Visual Defects Associated with Polycystic Kidney and Medullary Sponge Kidney.

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5.

Omori Y et al. (2008) Elipsa is an early determinant of ciliogenesis that links the IFT particle to membrane-associated small GTPase Rab8.

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6.

None (1924) The Inheritance of a Retinal Abnormality in White Mice.

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7.

Otto EA et al. (2005) Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

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8.

SENIOR B et al. (1961) Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy.

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9.

LOKEN AC et al. (1961) Hereditary renal dysplasia and blindness.

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10.

Olbrich H et al. (2003) Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

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11.

Otto E et al. (2002) A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.

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12.

Schuermann MJ et al. (2002) Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36.

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13.

Omran H et al. (2002) Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene.

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14.

Caridi G et al. (1998) Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus.

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15.

Warady BA et al. (1994) Senior-Loken syndrome: revisited.

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16.

Antignac C et al. (1993) A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p.

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17.

Mendley SR et al. (1995) Hereditary sclerosing glomerulopathy in the conorenal syndrome.

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18.

None (1969) Hereditary renal-retinal dysplasia.

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19.

Bois E et al. (1970) [Association of chronic tubulo-interstitial nephropathy and of tapeto-retinal degeneration. Genetic study].

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20.

Fontaine JL et al. (1970) [Tubulo-interstitial nephropathy in children with tapeto-retinal degeneration (Senior's syndrome. (1 case)].

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21.

None (1969) Familial occurrence of congenital retinal blindness and developmental renal lesions.

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22.

Schuman JS et al. (1985) Senior-Loken syndrome (familial renal-retinal dystrophy) and Coats' disease.

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23.

Clarke MP et al. (1992) Senior-Loken syndrome. Case reports of two siblings and association with sensorineural deafness.

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24.

Proesmans W et al. (1975) Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis.

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25.

Hogewind BL et al. (1977) Electro-rentinal abnormalities in heterozygotes of renal-retinal dysplasia.

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26.

Avasthi PS et al. (1976) Hereditary renal-retinal dysplasia and the medullary cystic disease-nephronophthisis complex.

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27.

Diekmann L et al. (1977) [Familial nephropathy with retinitis pigmentosa and peripheral dysostosis].

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28.

Godel V et al. (1979) Retinal manifestations in familial juvenile nephronophthisis.

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29.

Sayer JA et al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.

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30.

Khanna H et al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

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31.

OMIM.ORG article

Omim 616629 external link
Update: 14. August 2020
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