Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Senior-Loken syndrome

Senior-Loken syndrome is an autosomal recessive disorders. It is characterized by nephronopthisis and Leber congenital amaurosis.

Symptoms

Retinal dystrophy
Leber congenital amaurosis is a typical symptom of Senior-Loken syndrome.

Systematic

Medullary cystic disease complex
Ciliopathy
Medullary cystic kidney disease
Nephronophthisis
Senior-Loken syndrome
Senior-Loken syndrome 1
NPHP1
Senior-Loken syndrome 3
NPHP3
Senior-Loken syndrome 4
NPHP4
Senior-Loken syndrome 5
IQCB1
Senior-Loken syndrome 6
CEP290
Senior-Loken syndrome 7
SDCCAG8
Senior-Loken syndrome 8
WDR19
Senior-Loken syndrome 9
TRAF3IP1

References:

1.

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

[^]
2.

Otto EA et al. (2010) Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

[^]
3.

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

[^]
4.

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

[^]
5.

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

[^]
6.

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

[^]
7.

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

[^]
8.

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

[^]
9.

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

[^]
10.

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

[^]
11.

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

[^]
12.

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

[^]
13.

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

[^]
14.

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

[^]
15.

None (1969) Hereditary renal-retinal dysplasia.

[^]
16.

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

[^]
17.

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

[^]
18.

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

[^]
19.

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

[^]
20.

Ling L et al. (2000) MIP-T3, a novel protein linking tumor necrosis factor receptor-associated factor 3 to the microtubule network.

[^]
21.

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

[^]
22.

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

[^]
23.

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

[^]
24.

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

[^]
25.

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

[^]
26.

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

[^]
27.

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

[^]
28.

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

[^]
29.

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

[^]
30.

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

[^]
31.

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

[^]
32.

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

[^]
33.

Halbritter J et al. (2013) Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

[^]
34.

Coussa RG et al. (2013) WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.

[^]
35.

Stone EM et al. (2011) Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

[^]
36.

Estrada-Cuzcano A et al. (2011) IQCB1 mutations in patients with leber congenital amaurosis.

[^]
37.

Wang X et al. (2011) Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.

[^]
38.

OMIM.ORG article

Omim 616629 [^]
39.

Orphanet article

Orphanet ID 3156 [^]
40.

Wikipedia article

Wikipedia EN (Senior–Løken_syndrome) [^]
Update: April 29, 2019