MCID: SNR001
MIFTS: 40

Senior-Loken Syndrome malady

Nephrological category

Summaries for Senior-Loken Syndrome

Sources:
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). Affiliated tissues include liver and kidney, and related mouse phenotypes are craniofacial and vision/eye.

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

Aliases & Classifications for Senior-Loken Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 61UMLS, 47OMIM
See all sources

Classifications:

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


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 61
loken senior syndrome 8
senior loken syndrome 43


External Ids:

Disease Ontology8 DOID:0050576

Related Diseases for Senior-Loken Syndrome

Sources:
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 44)
idRelated DiseaseScoreTop Affiliating Genes
1senior-loken syndrome 630.9LCA10, CEP290
2nephronophthisis30.6NEK9, NEK8, MKS1, GLIS2, IQCB1, TMEM216
3joubert syndrome 230.4TMEM216
4leber congenital amaurosis30.4CEP290, IQCB1, RPGR
5joubert syndrome30.4CEP290, ARL13B, NPHP1
6senior-loken syndrome 110.7
7n syndrome10.7
8senior-loken syndrome 510.7
9senior-l�ken syndrome10.7
10senior-loken syndrome 410.6
11senior-loken syndrome 710.6
12senior-loken syndrome 310.5
13retinitis pigmentosa10.3
14coats disease10.3
15microcephaly10.3
16micro syndrome10.3
17pigmentary retinopathy10.3
18mental retardation10.3
19nephronophthisis 1, juvenile10.3
20renal dysplasia10.3
21retinitis pigmentosa autosomal recessive10.3
22cone-rod dystrophy 210.0RPGR
23asphyxiating thoracic dystrophy10.0ARL13B
24nephronophthisis 410.0NPHP4
25apraxia10.0TMEM216, NPHP1
26meckel syndrome 410.0LCA10, CEP290
27bardet-biedl syndrome 1410.0CEP290, LCA10
28congenital nystagmus10.0CCDC28B
29leber congenital amaurosis 1010.0LCA10, CEP290
30retinal degeneration10.0RPGR, NPHP1, CEP290
31nephronophthisis 110.0NPHP3, NPHP4, NPHP1
32joubert syndrome with oculorenal anomalies10.0LCA10, CEP290
33retinitis pigmentosa 310.0RPGR
34cystic kidney10.0NPHP1, NPHP4, NPHP3
35bardet-biedl syndrome 110.0BBS1
36situs inversus10.0IQCB1, NPHP3, NPHP1
37doid:401910.0TMEM216, NPHP1
38seckel syndrome10.0XPNPEP3, IQCB1, TMEM216, CEP290
39fundus dystrophy10.0BBS1, RPGR, NPHP1, CEP290
40rhyns syndrome10.0BBS1, RPGR, NPHP1, NPHP4, IQCB1
41familial juvenile hyperuricemic nephropathy10.0NPHP4, NPHP1
42polycystic kidney disease10.0NEK8, NEK9
43bardet-biedl syndrome10.0SDCCAG8, CEP290, MKS1, CCDC28B, BBS1, BBS7
44polydactyly10.0BBS7, 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

Sources:
47OMIM
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Clinical features from OMIM:

266900,609254,606996,610189,613615

Drugs & Therapeutics for Senior-Loken Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Senior-Loken Syndrome

Drug clinical trials:

Search ClinicalTrials for Senior-Loken Syndrome

Search NIH Clinical Center for Senior-Loken Syndrome

Search CenterWatch for Senior-Loken Syndrome

Genetic Tests for Senior-Loken Syndrome

Sources:
20GeneTests, 22GTR
See all sources

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

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

33
Liver, Kidney

Animal Models for Senior-Loken Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Senior-Loken Syndrome

Sources:
51PubMed
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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

Expression for genes affiliated with Senior-Loken Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Senior-Loken Syndrome

Search GEO for disease gene expression data for Senior-Loken Syndrome.

Pathways for genes affiliated with Senior-Loken Syndrome

Compounds for genes affiliated with Senior-Loken Syndrome

GO Terms for genes affiliated with Senior-Loken Syndrome

Sources:
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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet