MCID: SNR012
MIFTS: 43

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:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Senior-Loken Syndrome-1, Aliases & Descriptions:

Name: Senior-Loken Syndrome-1 45 10
Senior-Loken Syndrome 1 45 20 22
Senior-Loken Syndrome 9 41 47
Nephronophthisis with Retinal Dystrophy 41 47
Renal Dysplasia - Retinal Aplasia 41 47
Renal-Retinal Syndrome 9 41
Loken-Senior Syndrome 41 20
 
Slsn 41 47
Juvenile Nephronophthisis with Leber Amaurosis 41
Renal Dysplasia and Retinal Aplasia 60
Renal Dysplasia Retinal Aplasia 41
Loken Senior Syndrome 9
Senior Loken Syndrome 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
senior-loken syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age


External Ids:

OMIM45 266900
Disease Ontology9 DOID:0050576
Orphanet47 3156
MESH via Orphanet34 C537580
ICD10 via Orphanet26 Q61.5

Summaries for Senior-Loken Syndrome-1

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OMIM:45 Senior-Loken syndrome is an autosomal recessive disease with the main features of nephronophthisis (NPHP; see 256100)... (266900) more...

MalaCards based summary: Senior-Loken Syndrome-1, also known as senior-loken syndrome 1, is related to leber congenital amaurosis 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 Cell Cycle, Mitotic and Regulation of PLK1 Activity at G2/M Transition. Affiliated tissues include kidney, eye and bone, and related mouse phenotypes are cardiovascular system and renal/urinary system.

Disease Ontology:9 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.

Related Diseases for Senior-Loken Syndrome-1

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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:

 47 (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 abnormal 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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Drug clinical trials:

Search ClinicalTrials for Senior-Loken Syndrome-1

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 Syndrome20 SDCCAG8
2 Senior-Loken Syndrome Multi-Gene Panels20
3 Senior-Loken Syndrome 120 22 NPHP1

Anatomical Context for Senior-Loken Syndrome-1

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

31
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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.3NPHP4, NPHP3, CEP290, INVS
2MP:00053677.0NPHP4, INVS, SDCCAG8, CEP290, NPHP1, NPHP3

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:

6 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1CEP290CEP290, 5-BP DELdeletionPathogenic
2IQCB1NM_001023570.2(IQCB1): c.1381C> T (p.Arg461Ter)single nucleotide variantPathogenicrs121918244GRCh37Chr 3, 121500619: 121500619
3IQCB1IQCB1, 2-BP DEL, 424TTdeletionPathogenic
4IQCB1IQCB1, 4-BP DEL, 445CTCTdeletionPathogenic
5IQCB1IQCB1, 4-BP DEL, 825ACAGdeletionPathogenic
6IQCB1NM_001023570.2(IQCB1): c.1069C> T (p.Gln357Ter)single nucleotide variantPathogenicrs121918245GRCh37Chr 3, 121508980: 121508980
7IQCB1IQCB1, 1-BP DEL, 333TdeletionPathogenic
8IQCB1IQCB1, 2-BP DEL, 1516CAdeletionPathogenic
9IQCB1NM_001023570.2(IQCB1): c.1465C> T (p.Arg489Ter)single nucleotide variantPathogenicrs373909351GRCh37Chr 3, 121491506: 121491506
10IQCB1NM_001023570.2(IQCB1): c.1036G> T (p.Glu346Ter)single nucleotide variantPathogenicrs387907009GRCh37Chr 3, 121509013: 121509013
11NPHP4NM_015102.4(NPHP4): c.2335C> T (p.Gln779Ter)single nucleotide variantPathogenicrs137852922GRCh37Chr 1, 5947496: 5947496
12NPHP4NM_015102.4(NPHP4): c.1972C> T (p.Arg658Ter)single nucleotide variantPathogenicrs137852923GRCh37Chr 1, 5964848: 5964848
13NPHP1NPHP1, DELdeletionPathogenic
14CEP164CEP164, TER1460TRPsingle nucleotide variantPathogenic
15CEP164NM_014956.4(CEP164): c.32A> C (p.Gln11Pro)single nucleotide variantPathogenicrs387907309GRCh37Chr 11, 117209334: 117209334
16CEP164NM_014956.4(CEP164): c.277C> T (p.Arg93Trp)single nucleotide variantPathogenicrs387907310GRCh37Chr 11, 117222588: 117222588
17CEP164NM_014956.4(CEP164): c.1573C> T (p.Gln525Ter)single nucleotide variantPathogenicrs387907311GRCh37Chr 11, 117252580: 117252580
18CEP164NM_014956.4(CEP164): c.1726C> T (p.Arg576Ter)single nucleotide variantPathogenicrs145646425GRCh37Chr 11, 117257920: 117257920
19SDCCAG8NM_006642.3(SDCCAG8): c.1420delG (p.Glu474Serfs)deletionPathogenicrs397515335GRCh37Chr 1, 243507580: 243507580
20SDCCAG8NM_006642.3(SDCCAG8): c.1339dupG (p.Glu447Glyfs)duplicationPathogenicrs387906218GRCh37Chr 1, 243504458: 243504459
21SDCCAG8NM_006642.3(SDCCAG8): c.1946_1949delGTGT (p.Cys649Serfs)deletionPathogenicrs397515336GRCh37Chr 1, 243589821: 243589824
22SDCCAG8NM_006642.3(SDCCAG8): c.740+356C> Tsingle nucleotide variantPathogenicrs397515337GRCh37Chr 1, 243468435: 243468435
23SDCCAG8NM_006642.3(SDCCAG8): c.679A> T (p.Lys227Ter)single nucleotide variantPathogenicrs267607031GRCh37Chr 1, 243468018: 243468018

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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Compounds 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:

idNameGO IDScoreTop Affiliating Genes
1tight junctionGO:00059239.7NPHP4, NPHP1
2photoreceptor connecting ciliumGO:00323919.4CEP290, NPHP1, IQCB1
3centrioleGO:00058149.3SDCCAG8, CEP164
4cell-cell junctionGO:00059119.2SDCCAG8, NPHP1, NPHP4
5membraneGO:00160208.9NPHP1, NPHP4, INVS
6ciliumGO:00059298.9NPHP3, INVS, NPHP4
7centrosomeGO:00058138.3IQCB1, SDCCAG8, CEP164, CEP290, NPHP4
8cytoplasmGO:00057378.2CEP290, IQCB1, CEP164, INVS, NPHP1

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1visual behaviorGO:000763210.0NPHP4, NPHP1
2cell-cell adhesionGO:00163379.7NPHP4, NPHP1
3retina development in camera-type eyeGO:00600419.6NPHP4, NPHP1, CEP290
4maintenance of organ identityGO:00484969.5IQCB1, NPHP3
5actin cytoskeleton organizationGO:00300369.5NPHP4, NPHP1
6regulation of cAMP metabolic processGO:00308149.5CEP290, NPHP3
7photoreceptor cell maintenanceGO:00454949.4IQCB1, NPHP3
8establishment or maintenance of cell polarityGO:00071639.4CEP290, NPHP3
9cilium morphogenesisGO:00602719.3NPHP3, CEP290
10cilium assemblyGO:00423849.3IQCB1, CEP290, CEP164
11negative regulation of canonical Wnt signaling pathwayGO:00900909.2INVS, NPHP3
12kidney developmentGO:00018229.1NPHP3, INVS
13Wnt signaling pathwayGO:00160559.1NPHP3, INVS
14G2/M transition of mitotic cell cycleGO:00000869.1SDCCAG8, CEP164, CEP290
15mitotic cell cycleGO:00002789.0CEP290, CEP164, SDCCAG8

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

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051989.8NPHP4, NPHP1
2calmodulin bindingGO:00055169.2IQCB1, INVS
3protein bindingGO:00055156.3NPHP4, INVS, SDCCAG8, CEP164, CEP290, IQCB1

Products for genes affiliated with Senior-Loken Syndrome-1

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Sources for Senior-Loken Syndrome-1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet