Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Senior-Loken-Syndrom 3

Senior-Loken-Syndrom 3 ist eine autosomal rezessive Erkrankung mit medullären Nierenzysten, die durch Mutationen im NPHP3-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
NPHP3
Senior-Loken-Syndrom 4
Senior-Loken-Syndrom 5
Senior-Loken-Syndrom 6
Senior-Loken-Syndrom 7
Senior-Loken-Syndrom 8
Senior-Loken-Syndrom 9

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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

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12.

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

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13.

None (1969) Hereditary renal-retinal dysplasia.

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14.

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

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15.

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

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16.

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

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17.

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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18.

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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19.

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

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20.

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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21.

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

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22.

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

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23.

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

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24.

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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25.

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

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26.

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

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