MCID: SNR012
MIFTS: 49

Senior-Loken Syndrome-1 malady

Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases categories

Aliases & Classifications for Senior-Loken Syndrome-1

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Sources:
49OMIM, 11diseasecard, 22GeneTests, 24GTR, 10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Senior-Loken Syndrome-1:

Name: Senior-Loken Syndrome-1 49 11 22 24
Senior-Loken Syndrome 10 45 12 51
Juvenile Nephronophthisis with Leber Amaurosis 45 22 67
Renal-Retinal Syndrome 10 45 22
Renal Dysplasia and Retinal Aplasia 65 67
Renal Dysplasia Retinal Aplasia 45 22
Loken-Senior Syndrome 45 22
 
Nephronophthisis with Retinal Dystrophy 51
Renal Dysplasia - Retinal Aplasia 51
Senior-Loken Syndrome 1 67
Senior Loken Syndrome 45
Loken Senior Syndrome 10
Slsn1 67
Slsn 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
senior-loken syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age


External Ids:

OMIM49 266900
Disease Ontology10 DOID:0050576
Orphanet51 3156
ICD10 via Orphanet28 Q61.5
MESH via Orphanet37 C537580
MedGen34 C0403553

Summaries for Senior-Loken Syndrome-1

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NIH Rare Diseases:45 Senior loken syndrome is a rare disorder characterized by the combination of two specific features: a kidney condition called nephronophthisis and an eye condition known as leber congenital amaurosis. it can be caused by mutations in one of at least six genes. the proteins produced from these genes are known or suspected to play roles in cell structures called cilia. these microscopic, finger-like projections stick out on the surface of cells and are involved in signaling pathways that transmit information between cells. cilia are important for the structure and function of many types of cells, including certain cells in the kidneys. they are also necessary for the perception of sensory input (such as vision, hearing, and smell). senior loken syndrome is inherited in an autosomal recessive pattern. last updated: 4/13/2015

MalaCards based summary: Senior-Loken Syndrome-1, also known as senior-loken syndrome, is related to joubert syndrome with oculorenal anomalies and nephronophthisis 1, juvenile, and has symptoms including multicystic kidney dysplasia, polycystic kidney dysplasia and visual impairment. An important gene associated with Senior-Loken Syndrome-1 is NPHP1 (Nephronophthisis 1 (Juvenile)), and among its related pathways are Intraflagellar transport and Signaling by Hedgehog. Affiliated tissues include kidney, eye and bone, and related mouse phenotypes are digestive/alimentary and limbs/digits/tail.

Disease Ontology:10 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.

OMIM:49 Senior-Loken syndrome is an autosomal recessive disease with the main features of nephronophthisis (NPHP; see 256100)... (266900) more...

UniProtKB/Swiss-Prot:67 Senior-Loken syndrome 1: A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.

Related Diseases for Senior-Loken Syndrome-1

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Diseases in the Senior-Loken Syndrome-1 family:

Senior-Loken Syndrome 4 Senior-Loken Syndrome 7
Senior-Loken Syndrome 5 Senior-Loken Syndrome 3
Senior-Loken Syndrome 8 Senior-Loken Syndrome 6

Diseases related to Senior-Loken Syndrome-1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1joubert syndrome with oculorenal anomalies30.5AHI1, MKS1
2nephronophthisis 1, juvenile30.3AHI1, INVS, NPHP1, NPHP3, NPHP4
3senior-loken syndrome 510.8
4senior-loken syndrome 410.8
5senior-loken syndrome 710.8
6senior-loken syndrome 610.8
7senior-loken syndrome 810.7
8senior-løken syndrome10.7
9senior-loken syndrome 310.7
10retinitis10.6
11nephronophthisis10.5
12coats disease10.5
13ciliopathy10.5
14cataract10.3
15leber congenital amaurosis10.3
16retinitis pigmentosa10.3
17acute pancreatitis10.3
18microcephaly10.3
19pancreatitis10.3
20retinal degeneration10.3
21nephronophthisis 410.2NPHP1, NPHP4, WDR19
22atypical hemolytic-uremic syndrome with b factor anomaly10.2NPHP3, XPNPEP3
23nephronophthisis 2, infantile10.2INVS, TTC21B
24bardet-biedl syndrome 1410.2CEP290, TMEM67
25mixed ductal-endocrine carcinoma10.2INVS, IQCB1, NPHP3
26visual agnosia10.1INVS, NPHP1, NPHP3
27simpson-golabi-behmel syndrome, type 210.1CEP290, RPGR
28cranioectodermal dysplasia 110.1IFT140, TTC21B, WDR19
29balo concentric sclerosis10.1INVS, NPHP1, NPHP3, NPHP4
30cystic teratoma10.1INVS, NPHP1, NPHP3, NPHP4
31multiple mucosal neuroma10.1INVS, NPHP1, NPHP3, WDR19
32retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness10.1IQCB1, RPGR
33medullary cystic kidney disease 210.1NPHP1, NPHP4
34cerebrofacial arteriovenous metameric syndrome type 110.1CC2D2A, TMEM67
35ribbing disease10.0IFT140, RPGR
36ichthyosis, congenital, autosomal recessive 210.0IFT140, RPGR
37craniofacial microsomia10.0CC2D2A, TMEM67
38autosomal recessive disease9.9CEP290, INVS, NPHP1, NPHP3, NPHP4, WDR19
39eye lymphoma9.9CEP290, NPHP1, RPGR, SDCCAG8, WDR19
40coach syndrome9.9CC2D2A, TMEM67
41inosine triphosphate pyrophosphohydrolase deficiency9.9IFT140, INVS, NPHP1, NPHP4, RPGR
42naegeli-franceschetti-jadassohn syndrome9.9CEP290, IFT140, NPHP1, NPHP4, RPGR
43arteriosclerosis9.8AHI1, CC2D2A, NPHP1, TMEM216
44joubert syndrome with renal anomalies9.8CC2D2A, CEP290, NPHP4, TMEM216, TMEM67
45hydrolethalus syndrome9.8AHI1, MKS1, TMEM216, TMEM67
46intestinal schistosomiasis9.7ARL13B, IFT140, NPHP4, TTC21B, WDR19
47leukemia9.7CEP164, CEP290, IFT140, IQCB1, NPHP4, RPGR
48encephalocele anencephaly9.6CC2D2A, CEP290, MKS1, NPHP3, TMEM216, TMEM67
49b cell deficiency9.6CEP290, INVS, MKS1, NPHP1, NPHP3, NPHP4
50tarsal tunnel syndrome9.3ARL13B, CEP290, INVS, MKS1, NPHP1, NPHP4

Graphical network of the top 20 diseases related to Senior-Loken Syndrome-1:



Diseases related to senior-loken syndrome-1

Symptoms for Senior-Loken Syndrome-1

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Symptoms by clinical synopsis from OMIM:

266900

Clinical features from OMIM:

266900

Symptoms:

 51 (show all 15)
  • retinitis pigmentosa/retinal pigmentary changes
  • mild visual loss/impaired visual acuity
  • chronic arterial hypertension
  • multicystic kidney/renal dysplasia
  • polycystic kidneys
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • visual loss/blindness/amblyopia
  • renal tubular defect/tubulopathy
  • cataract/lens opacification
  • congenital hepatic fibrosis
  • ataxia/incoordination/trouble of the equilibrium
  • abnormal/absent ossification
  • cone epiphyses/epiphysis

HPO human phenotypes related to Senior-Loken Syndrome-1:

(show all 22)
id Description Frequency HPO Source Accession
1 multicystic kidney dysplasia hallmark (90%) HP:0000003
2 polycystic kidney dysplasia hallmark (90%) HP:0000113
3 visual impairment hallmark (90%) HP:0000505
4 hypertension hallmark (90%) HP:0000822
5 short stature hallmark (90%) HP:0004322
6 abnormality of retinal pigmentation hallmark (90%) HP:0007703
7 cognitive impairment hallmark (90%) HP:0100543
8 abnormality of the renal tubule typical (50%) HP:0000091
9 visual impairment typical (50%) HP:0000505
10 cataract occasional (7.5%) HP:0000518
11 incoordination occasional (7.5%) HP:0002311
12 congenital hepatic fibrosis occasional (7.5%) HP:0002612
13 abnormality of bone mineral density occasional (7.5%) HP:0004348
14 cone-shaped epiphysis occasional (7.5%) HP:0010579
15 autosomal recessive inheritance HP:0000007
16 nephronophthisis HP:0000090
17 polyuria HP:0000103
18 tapetoretinal degeneration HP:0000547
19 heterogeneous HP:0001425
20 anemia HP:0001903
21 polydipsia HP:0001959
22 stage 5 chronic kidney disease HP:0003774

Drugs & Therapeutics for Senior-Loken Syndrome-1

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical and Molecular Investigations Into CiliopathiesRecruitingNCT00068224

Search NIH Clinical Center for Senior-Loken Syndrome-1

Genetic Tests for Senior-Loken Syndrome-1

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Genetic tests related to Senior-Loken Syndrome-1:

id Genetic test Affiliating Genes
1 Senior-Loken Syndrome22 SDCCAG8
2 Senior-Loken Syndrome 122 24 NPHP1

Anatomical Context for Senior-Loken Syndrome-1

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MalaCards organs/tissues related to Senior-Loken Syndrome-1:

33
Kidney, Eye, Bone

Animal Models for Senior-Loken Syndrome-1 or affiliated genes

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MGI Mouse Phenotypes related to Senior-Loken Syndrome-1:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.7CC2D2A, INVS, MKS1, SDCCAG8, TMEM67, WDR19
2MP:00053718.4CC2D2A, IFT140, MKS1, SDCCAG8, TMEM67, TTC21B
3MP:00053857.9CC2D2A, CEP290, IFT140, INVS, MKS1, NPHP3
4MP:00053827.9CC2D2A, CEP290, IFT140, MKS1, NPHP3, SDCCAG8
5MP:00053917.2AHI1, CC2D2A, CEP290, IFT140, MKS1, NPHP1
6MP:00053807.0ARL13B, CC2D2A, IFT140, INVS, MKS1, NPHP3
7MP:00053677.0AHI1, CC2D2A, CEP290, IFT140, INVS, MKS1
8MP:00036315.6AHI1, ARL13B, CC2D2A, CEP290, IFT140, MKS1

Publications for Senior-Loken Syndrome-1

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Variations for Senior-Loken Syndrome-1

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Clinvar genetic disease variations for Senior-Loken Syndrome-1:

5 (show all 32)
id Gene Variation Type Significance SNP ID Assembly Location
1WDR19NM_025132.3(WDR19): c.641dupT (p.Leu214Phefs)duplicationPathogenicrs587777348GRCh37Chr 4, 39206811: 39206811
2WDR19NM_025132.3(WDR19): c.1477G> C (p.Asp493His)single nucleotide variantPathogenicrs587777349GRCh37Chr 4, 39219723: 39219723
3WDR19NM_025132.3(WDR19): c.3533G> A (p.Arg1178Gln)single nucleotide variantPathogenicrs79436363GRCh37Chr 4, 39274649: 39274649
4WDR19NM_025132.3(WDR19): c.3565+1G> Asingle nucleotide variantPathogenicrs587777352GRCh37Chr 4, 39274682: 39274682
5CEP290CEP290, 5-BP DELdeletionPathogenic
6IQCB1NM_001023570.2(IQCB1): c.1522_1523dupGA (p.Ala509Lysfs)duplicationPathogenicrs587783011GRCh37Chr 3, 121491448: 121491449
7IQCB1NM_001023570.2(IQCB1): c.424_425delTT (p.Phe142Profs)deletionPathogenicrs750962965GRCh38Chr 3, 121808978: 121808979
8IQCB1IQCB1, 4-BP DEL, 445CTCTdeletionPathogenic
9IQCB1IQCB1, 4-BP DEL, 825ACAGdeletionPathogenic
10IQCB1NM_001023570.2(IQCB1): c.1069C> T (p.Gln357Ter)single nucleotide variantPathogenicrs121918245GRCh37Chr 3, 121508980: 121508980
11WDR19NM_025132.3(WDR19): c.203T> A (p.Val68Asp)single nucleotide variantPathogenicrs786204852GRCh37Chr 4, 39191314: 39191314
12WDR19NM_025132.3(WDR19): c.407-2A> Gsingle nucleotide variantPathogenicrs374400438GRCh37Chr 4, 39201096: 39201096
13IQCB1NM_001023570.2(IQCB1): c.817G> T (p.Glu273Ter)single nucleotide variantPathogenicrs794727964GRCh37Chr 3, 121516024: 121516024
14SDCCAG8NM_006642.3(SDCCAG8): c.221-2A> Gsingle nucleotide variantPathogenicrs797045946GRCh37Chr 1, 243434278: 243434278
15SDCCAG8NM_006642.3(SDCCAG8): c.481C> T (p.Gln161Ter)single nucleotide variantPathogenicrs797045947GRCh37Chr 1, 243449634: 243449634
16SDCCAG8NM_006642.3(SDCCAG8): c.567G> A (p.Trp189Ter)single nucleotide variantPathogenicrs797045948GRCh37Chr 1, 243456413: 243456413
17WDR19NM_025132.3(WDR19): c.2129T> C (p.Leu710Ser)single nucleotide variantPathogenicrs387906980GRCh37Chr 4, 39233563: 39233563
18IQCB1NM_001023570.2(IQCB1): c.333delT (p.Ala112Glnfs)deletionPathogenicrs786200929GRCh37Chr 3, 121544958: 121544958
19IQCB1IQCB1, 2-BP DEL, 1516CAdeletionPathogenic
20IQCB1NM_001023570.2(IQCB1): c.1465C> T (p.Arg489Ter)single nucleotide variantPathogenicrs373909351GRCh37Chr 3, 121491506: 121491506
21IQCB1NM_001023570.2(IQCB1): c.1036G> T (p.Glu346Ter)single nucleotide variantPathogenicrs387907009GRCh37Chr 3, 121509013: 121509013
22NPHP4NM_015102.4(NPHP4): c.2335C> T (p.Gln779Ter)single nucleotide variantPathogenicrs137852922GRCh37Chr 1, 5947496: 5947496
23NPHP4NM_015102.4(NPHP4): c.1972C> T (p.Arg658Ter)single nucleotide variantPathogenicrs137852923GRCh37Chr 1, 5964848: 5964848
24NPHP1NPHP1, DELdeletionPathogenic
25CEP164CEP164, TER1460TRPsingle nucleotide variantPathogenic
26CEP164NM_014956.4(CEP164): c.32A> C (p.Gln11Pro)single nucleotide variantPathogenicrs387907309GRCh37Chr 11, 117209334: 117209334
27CEP164NM_014956.4(CEP164): c.277C> T (p.Arg93Trp)single nucleotide variantPathogenicrs387907310GRCh37Chr 11, 117222588: 117222588
28CEP164NM_014956.4(CEP164): c.1573C> T (p.Gln525Ter)single nucleotide variantPathogenicrs387907311GRCh37Chr 11, 117252580: 117252580
29CEP164NM_014956.4(CEP164): c.1726C> T (p.Arg576Ter)single nucleotide variantPathogenicrs145646425GRCh37Chr 11, 117257920: 117257920
30SDCCAG8NM_006642.3(SDCCAG8): c.1420delG (p.Glu474Serfs)deletionPathogenicrs397515335GRCh37Chr 1, 243507580: 243507580
31SDCCAG8NM_006642.3(SDCCAG8): c.1339dupG (p.Glu447Glyfs)duplicationPathogenicrs387906218GRCh37Chr 1, 243504458: 243504458
32SDCCAG8NM_006642.3(SDCCAG8): c.1946_1949delGTGT (p.Cys649Serfs)deletionPathogenicrs397515336GRCh37Chr 1, 243589821: 243589824

Expression for genes affiliated with Senior-Loken Syndrome-1

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Search GEO for disease gene expression data for Senior-Loken Syndrome-1.

Pathways for genes affiliated with Senior-Loken Syndrome-1

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GO Terms for genes affiliated with Senior-Loken Syndrome-1

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Cellular components related to Senior-Loken Syndrome-1 according to GeneCards Suite gene sharing:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1ciliary inversin compartmentGO:009754310.6INVS, NPHP3
2centriolar satelliteGO:003445110.6CEP290, SDCCAG8
3intraciliary transport particle AGO:003099110.3IFT140, TTC21B, WDR19
4ciliary tipGO:009754210.2IFT140, TTC21B, WDR19
5ciliary baseGO:009754610.2INVS, NPHP1, NPHP3, NPHP4
6motile ciliumGO:00315149.8ARL13B, NPHP1, WDR19
7cell-cell junctionGO:00059119.7AHI1, NPHP1, NPHP4, SDCCAG8
8nonmotile primary ciliumGO:00315139.7AHI1, IFT140, NPHP4, WDR19
9centrioleGO:00058149.5AHI1, CEP164, MKS1, SDCCAG8
10ciliary transition zoneGO:00358699.2CC2D2A, CEP290, MKS1, NPHP1, NPHP4, TMEM216
11photoreceptor outer segmentGO:00017509.1AHI1, CEP290, IFT140, IQCB1, RPGR
12ciliary basal bodyGO:00360649.1AHI1, IFT140, MKS1, RPGR
13photoreceptor connecting ciliumGO:00323919.0CEP290, IFT140, IQCB1, NPHP1, NPHP4, RPGR
14cytoskeletonGO:00058568.6CC2D2A, NPHP1, NPHP4, TMEM216, TTC21B, WDR19
15TCTN-B9D complexGO:00360388.5AHI1, CC2D2A, CEP290, MKS1, TMEM216, TMEM67
16primary ciliumGO:00723728.5AHI1, ARL13B, IFT140, NPHP3, TTC21B, WDR19
17cytosolGO:00058297.3CC2D2A, CEP164, CEP290, IQCB1, MKS1, NPHP1
18centrosomeGO:00058137.3AHI1, CEP164, CEP290, IFT140, IQCB1, MKS1
19ciliumGO:00059296.7AHI1, ARL13B, CEP164, IFT140, NPHP1, NPHP3

Biological processes related to Senior-Loken Syndrome-1 according to GeneCards Suite gene sharing:

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1visual behaviorGO:000763210.6NPHP1, NPHP4
2maintenance of organ identityGO:004849610.5IQCB1, NPHP3
3establishment or maintenance of cell polarityGO:000716310.4CEP290, NPHP3
4regulation of Wnt signaling pathway, planar cell polarity pathwayGO:200009510.4MKS1, NPHP3
5protein localization to ciliumGO:006151210.3IFT140, TTC21B
6intraciliary retrograde transportGO:003572110.2IFT140, TTC21B, WDR19
7intraciliary transportGO:004207310.2IFT140, RPGR
8eye photoreceptor cell developmentGO:004246210.2CEP290, RPGR
9hindbrain developmentGO:003090210.1AHI1, CEP290
10G2/M transition of mitotic cell cycleGO:000008610.0CEP164, CEP290, SDCCAG8
11regulation of smoothened signaling pathwayGO:000858910.0IFT140, MKS1, TTC21B
12neural tube patterningGO:00215329.9ARL13B, IFT140
13photoreceptor cell outer segment organizationGO:00358459.8AHI1, IFT140, NPHP4
14regulation of cAMP metabolic processGO:00308149.7CEP290, NPHP3
15negative regulation of canonical Wnt signaling pathwayGO:00900909.6INVS, NPHP3, NPHP4
16left/right axis specificationGO:00709869.6AHI1, ARL13B
17photoreceptor cell maintenanceGO:00454949.6CEP290, IQCB1, NPHP3, NPHP4
18nonmotile primary cilium assemblyGO:00350589.5ARL13B, CEP290, MKS1
19smoothened signaling pathwayGO:00072249.3ARL13B, CC2D2A, TTC21B
20retina development in camera-type eyeGO:00600419.2AHI1, CEP290, IFT140, NPHP1, NPHP4
21heart loopingGO:00019479.2AHI1, ARL13B, NPHP3
22determination of left/right symmetryGO:00073689.0ARL13B, MKS1, NPHP3
23cilium morphogenesisGO:00602717.4AHI1, CC2D2A, CEP290, IFT140, MKS1, NPHP3
24cilium assemblyGO:00423845.8AHI1, ARL13B, CC2D2A, CEP164, CEP290, IFT140
25organelle organizationGO:00069965.5ARL13B, CC2D2A, CEP164, CEP290, IFT140, IQCB1

Molecular functions related to Senior-Loken Syndrome-1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055154.4AHI1, ARL13B, CC2D2A, CEP164, CEP290, IFT140

Sources for Senior-Loken Syndrome-1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet