MCID: SNR001
MIFTS: 43

Senior-Loken Syndrome malady

Nephrological diseases category

Summaries for Senior-Loken Syndrome

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8Disease Ontology, 46OMIM, 32MalaCards
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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). Affiliated tissues include eye, kidney and liver, and related mouse phenotypes are craniofacial and vision/eye.

Description from OMIM:46 266900,609254,606996,610189,613615

Aliases & Classifications for Senior-Loken Syndrome

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 60UMLS, 46OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological diseases


Aliases & Descriptions:

senior-loken syndrome 8 42
renal dysplasia retinal aplasia 42 22
renal-retinal syndrome 8 42
loken-senior syndrome 42 20
juvenile nephronophthisis with leber amaurosis 42
renal dysplasia and retinal aplasia 60
loken senior syndrome 8
senior loken syndrome 42


External Ids:

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 41)
idRelated DiseaseScoreTop Affiliating Genes
1senior-loken syndrome 630.9LCA10, CEP290
2nephronophthisis30.6NEK9, NEK8, MKS1, GLIS2, IQCB1, TMEM216
3joubert syndrome 230.4TMEM216
4retinal degeneration30.4RPGR, NPHP1, CEP290
5leber congenital amaurosis30.4CEP290, IQCB1, RPGR
6joubert syndrome30.4CEP290, ARL13B, NPHP1
7senior-loken syndrome 110.7
8senior-loken syndrome 510.6
9senior-løken syndrome10.6
10senior-loken syndrome 410.6
11senior-loken syndrome 710.6
12retinitis10.6
13senior-loken syndrome 310.5
14retinitis pigmentosa10.3
15coats disease10.3
16microcephaly10.3
17cataract10.3
18retinal disease10.3
19nephronophthisis 1, juvenile10.3
20cone-rod dystrophy 210.0RPGR
21asphyxiating thoracic dystrophy10.0ARL13B
22nephronophthisis 410.0NPHP4
23apraxia10.0TMEM216, NPHP1
24meckel syndrome 410.0LCA10, CEP290
25bardet-biedl syndrome 1410.0CEP290, LCA10
26congenital nystagmus10.0CCDC28B
27leber congenital amaurosis 1010.0LCA10, CEP290
28nephronophthisis 110.0NPHP3, NPHP4, NPHP1
29joubert syndrome with oculorenal anomalies10.0LCA10, CEP290
30retinitis pigmentosa 310.0RPGR
31cystic kidney10.0NPHP1, NPHP4, NPHP3
32bardet-biedl syndrome 110.0BBS1
33situs inversus10.0IQCB1, NPHP3, NPHP1
34doid:401910.0TMEM216, NPHP1
35seckel syndrome10.0XPNPEP3, IQCB1, TMEM216, CEP290
36fundus dystrophy10.0BBS1, RPGR, NPHP1, CEP290
37rhyns syndrome10.0BBS1, RPGR, NPHP1, NPHP4, IQCB1
38familial juvenile hyperuricemic nephropathy10.0NPHP4, NPHP1
39polycystic kidney disease10.0NEK8, NEK9
40bardet-biedl syndrome10.0SDCCAG8, CEP290, MKS1, CCDC28B, BBS1, BBS7
41polydactyly10.0BBS7, CEP290, TMEM216, MKS1, ARL13B, BBS1

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



Diseases related to senior-loken syndrome

Clinical Features for Senior-Loken Syndrome

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46OMIM
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Clinical features from OMIM:

266900,609254,606996,610189,613615

Drugs & Therapeutics for Senior-Loken Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Senior-Loken Syndrome

Drug clinical trials:

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Search NIH Clinical Center for Senior-Loken Syndrome

Search CenterWatch for Senior-Loken Syndrome

Genetic Tests for Senior-Loken Syndrome

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Sources:
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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32MalaCards
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MalaCards organs/tissues related to Senior-Loken Syndrome:

32
Eye, Kidney, Liver

Animal Models for Senior-Loken Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Senior-Loken Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.2BBS7, BBS1, NPHP3, MKS1, CEP290, SDCCAG8
2MP:00053919.2BBS7, BBS1, RPGR, NPHP1, NPHP4, MKS1
3MP:00053679.0SDCCAG8, BBS1, NPHP1, NPHP4, NPHP3, NEK8
4MP:00036318.9BBS1, RPGR, NPHP4, NPHP3, ARL13B, MKS1
5MP:00053858.9BBS7, BBS1, NPHP4, NPHP3, NEK8, MKS1

Publications for Senior-Loken Syndrome

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50PubMed
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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

Genetic Variations for Senior-Loken Syndrome

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Expression for genes affiliated with Senior-Loken Syndrome

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1BioGPS, 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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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:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1photoreceptor connecting ciliumGO:03239110.2NPHP1, IQCB1, CEP290
2TCTN-B9D complexGO:03603810.2CEP290, TMEM216, MKS1
3photoreceptor outer segmentGO:00175010.2IQCB1, RPGR
4BBSomeGO:03446410.1BBS1, BBS7
5cell-cell junctionGO:00591110.1NPHP1, NPHP4, SDCCAG8
6microtubule basal bodyGO:00593210.0NPHP4, MKS1, TMEM216, CEP290
7primary ciliumGO:07237210.0NPHP3, NEK8
8ciliumGO:0059299.9NPHP4, NPHP3, ARL13B, TMEM216
9cilium membraneGO:0601709.7BBS1, BBS7
10centrosomeGO:0058139.1SDCCAG8, BBS7, RPGR, CCDC28B, CALM3, NPHP4
11cytoplasmGO:0057378.6BBS7, BBS1, CCDC28B, CALM3, NEK8, MKS1

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1visual behaviorGO:00763210.3NPHP4, NPHP1
2maintenance of organ identityGO:04849610.2NPHP3, IQCB1
3retina development in camera-type eyeGO:06004110.1CEP290, NPHP4, NPHP1
4regulation of cAMP metabolic processGO:03081410.1NPHP3, CEP290
5photoreceptor cell maintenanceGO:04549410.1IQCB1, NPHP3, BBS1
6eye photoreceptor cell developmentGO:04246210.0CEP290, RPGR
7determination of left/right symmetryGO:00736810.0BBS7, NPHP3, ARL13B
8visual perceptionGO:0076019.9RPGR, BBS1, BBS7
9establishment or maintenance of cell polarityGO:0071639.8CEP290, NPHP3
10cilium morphogenesisGO:0602719.8BBS7, NPHP3, MKS1, TMEM216, CEP290
11cilium assemblyGO:0423849.4CEP290, TMEM216, IQCB1, MKS1, CCDC28B, RPGR

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055157.4SDCCAG8, BBS1, RPGR, CCDC28B, CALM3, NPHP1

Products for genes affiliated with Senior-Loken Syndrome

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Sources for Senior-Loken Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet