Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Senior-Loken-Syndrom 1

Senior-Loken-Syndrom 1 ist eine autosomal rezessive Erkrankung mit medullären Nierenzysten, die durch Mutationen im NPHP1-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
NPHP1
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

Referenzen:

1.

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

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

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

external link
14.

None (1969) Hereditary renal-retinal dysplasia.

external link
15.

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

external link
16.

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

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

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

external link
22.

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

external link
23.

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

external link
24.

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

external link
25.

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

external link
26.

OMIM.ORG article

Omim 266900 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz