MCID: SNR001
MIFTS: 43

Senior-Loken Syndrome malady

Genetic diseases, Rare diseases, Nephrological diseases, Eye diseases categories
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Summaries for Senior-Loken Syndrome

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8Disease Ontology, 47OMIM, 33MalaCards
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Disease Ontology:8 An autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease.

MalaCards: Senior-Loken Syndrome, also known as renal dysplasia retinal aplasia, is related to senior-loken syndrome 6 and nephronophthisis. An important gene associated with Senior-Loken Syndrome is SDCCAG8 (serologically defined colon cancer antigen 8), and among its related pathways is Regulation of PLK1 Activity at G2/M Transition. Affiliated tissues include eye, kidney and liver, and related mouse phenotypes are craniofacial and renal/urinary system.

Description from OMIM:47 610189,266900,606996,609254,613615

Aliases & Classifications for Senior-Loken Syndrome

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8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 62UMLS, 47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Nephrological diseases, Eye diseases


Aliases & Descriptions:

senior-loken syndrome 8 43
renal dysplasia retinal aplasia 43 22
renal-retinal syndrome 8 43
loken-senior syndrome 43 20
juvenile nephronophthisis with leber amaurosis 43
renal dysplasia and retinal aplasia 62
loken senior syndrome 8
senior loken syndrome 43


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Disease Ontology8 DOID:0050576

Related Diseases for Senior-Loken Syndrome

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17GeneCards, 18GeneDecks
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Diseases in the Senior-Loken Syndrome 1 family:

senior-loken syndrome Senior-Loken Syndrome 5
Senior-Loken Syndrome 4 Senior-Loken Syndrome 6
Senior-Loken Syndrome 7 Senior-Loken Syndrome 3

Diseases related to Senior-Loken Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 35)
idRelated DiseaseScoreTop Affiliating Genes
1senior-loken syndrome 631.0CEP290, LCA10
2nephronophthisis30.5IQCB1, NPHP4, NPHP1, CEP290, SDCCAG8
3leber congenital amaurosis30.5CEP290, IQCB1
4joubert syndrome30.5NPHP1, CEP290
5retinal degeneration30.5NPHP1, CEP290
6senior-loken syndrome 110.7
7senior-loken syndrome 510.7
8senior-løken syndrome10.7
9senior-loken syndrome 410.6
10senior-loken syndrome 710.6
11retinitis10.6
12senior-loken syndrome 310.5
13microcephaly10.3
14coats disease10.3
15retinitis pigmentosa10.3
16cataract10.3
17joubert syndrome 210.3
18pigmentary retinopathy10.3
19mental retardation10.3
20nephronophthisis 1, juvenile10.3
21nephronophthisis 410.1NPHP4
22familial juvenile hyperuricemic nephropathy10.1NPHP1, NPHP4
23nephronophthisis 110.1NPHP1, NPHP4
24cystic kidney10.1NPHP4, NPHP1
25situs inversus10.0IQCB1, NPHP1
26renal fibrosis10.0NPHP1, NPHP4
27seckel syndrome10.0CEP290, IQCB1
28rhyns syndrome10.0NPHP1, IQCB1, NPHP4
29joubert syndrome with oculorenal anomalies10.0LCA10, CEP290
30fundus dystrophy10.0CEP290, NPHP1
31meckel syndrome 410.0CEP290, LCA10
32leber congenital amaurosis 1010.0CEP290, LCA10
33bardet-biedl syndrome 1410.0LCA10, CEP290
34bardet-biedl syndrome10.0SDCCAG8, CEP290, WDR19
35polydactyly10.0CEP290, WDR19

Graphical network of the top 20 diseases related to Senior-Loken Syndrome:



Diseases related to senior-loken syndrome

Symptoms for Senior-Loken Syndrome

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47OMIM
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Clinical features from OMIM:

610189,266900,606996,609254,613615

Drugs & Therapeutics for Senior-Loken Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Senior-Loken Syndrome

Search NIH Clinical Center for Senior-Loken Syndrome

Genetic Tests for Senior-Loken Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Senior-Loken Syndrome:

id Genetic test Affiliating Genes
1 Senior-Loken Syndrome20 SDCCAG8
2 Senior-Loken Syndrome Multi-Gene Panels20
3 Renal Dysplasia and Retinal Aplasia22

Anatomical Context for Senior-Loken Syndrome

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33MalaCards
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MalaCards organs/tissues related to Senior-Loken Syndrome:

33
Eye, Kidney, Liver

Animal Models for Senior-Loken Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Senior-Loken Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.0WDR19, CEP290, SDCCAG8
2MP:00053678.7NPHP4, NPHP1, CEP290, SDCCAG8
3MP:00053918.2CEP290, WDR19, NPHP1, NPHP4

Publications for Senior-Loken Syndrome

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52PubMed
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Articles related to Senior-Loken Syndrome:

(show all 24)
idTitleAuthorsYear
1
WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. (23683095)
2013
2
The Senior-Loken syndrome: Two cases from the State of Qatar. (23205360)
2012
3
Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. (21220633)
2011
4
Senior-Loken syndrome in an Iranian family. (20587883)
2010
5
Autofluorescence and High-Resolution OCT Findings Revealed Ciliopathy in Senior-Loken Syndrome. (20337316)
2010
6
Senior-Loken syndrome in a Saudi child. (18445908)
2008
7
Senior-Loken syndrome. (17324998)
2007
8
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome. (17617513)
2007
9
Twins with senior-Loken syndrome. (17127790)
2006
10
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior- Loken syndrome and interacts with RPGR and calmodulin. (15723066)
2005
11
Cataract surgery in Senior-Loken syndrome is beneficial despite severe retinopathy. (12439678)
2002
12
A Japanese child with Senior-Loken syndrome. (11754908)
2001
13
Senior-Loken syndrome associated with mental retardation and microcephaly. (11380932)
2001
14
Late-onset renal failure in Senior-Loken syndrome. (11096053)
2000
15
Senior-Loken syndrome with unusual manifestations. (11229290)
1998
16
Senior-Loken syndrome. (11229197)
1997
17
Senior-Loken syndrome: revisited. (8008515)
1994
18
Senior-Loken syndrome. Case reports of two siblings and association with sensorineural deafness. (1540564)
1992
19
Senior-Loken syndrome (nephronophthisis and pigmentary retinopathy) associated to liver fibrosis: a family study. (2191234)
1990
20
Senior-Loken syndrome: ultrastructural features of heterozygous state associated with IgM nephropathy. (2762350)
1989
21
Hereditary renal and retinal dysplasia--the Senior-Loken syndrome. (3445397)
1987
22
Senior-Loken syndrome (familial renal-retinal dystrophy) and Coats' disease. (4073180)
1985
23
Senior-Loken syndrome. (618044)
1977
24
Senior-Loken syndrome (nephronophthisis and tapeto-retinal degeneration): a study of 8 cases from 5 families. (1248184)
1976

Variations for Senior-Loken Syndrome

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Expression for genes affiliated with Senior-Loken Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Senior-Loken Syndrome

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Pathways for genes affiliated with Senior-Loken Syndrome

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50PathCards, 55Reactome
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Compounds for genes affiliated with Senior-Loken Syndrome

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GO Terms for genes affiliated with Senior-Loken Syndrome

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16Gene Ontology
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Cellular components related to Senior-Loken Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tight junctionGO:0059239.6NPHP4, NPHP1
2cell-cell junctionGO:0059119.2NPHP4, NPHP1, SDCCAG8
3motile ciliumGO:0315149.1NPHP1, WDR19
4centrosomeGO:0058138.8SDCCAG8, CEP290, IQCB1, NPHP4
5photoreceptor connecting ciliumGO:0323918.5NPHP1, WDR19, IQCB1, CEP290

Biological processes related to Senior-Loken Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1visual behaviorGO:0076329.7NPHP4, NPHP1
2G2/M transition of mitotic cell cycleGO:0000869.6CEP290, SDCCAG8
3cell-cell adhesionGO:0163379.5NPHP4, NPHP1
4actin cytoskeleton organizationGO:0300369.3NPHP4, NPHP1
5retina development in camera-type eyeGO:0600419.2NPHP4, NPHP1, CEP290
6cilium assemblyGO:0423848.9CEP290, IQCB1, WDR19

Molecular functions related to Senior-Loken Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:0051989.6NPHP4, NPHP1

Products for genes affiliated with Senior-Loken Syndrome

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Sources for Senior-Loken Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet