SLSN1
MCID: SNR012
MIFTS: 49

Senior-Loken Syndrome-1 (SLSN1) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases

Aliases & Classifications for Senior-Loken Syndrome-1

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Aliases & Descriptions for Senior-Loken Syndrome-1:

Name: Senior-Loken Syndrome-1 52 12
Senior-Loken Syndrome 11 48 24 54 13
Juvenile Nephronophthisis with Leber Amaurosis 48 24 70
Renal Dysplasia and Retinal Aplasia 24 70 68
Senior-Loken Syndrome 1 24 70 27
Renal-Retinal Syndrome 11 48 24
Renal Dysplasia-Retinal Aplasia Syndrome 54 27
 
Nephronophthisis with Retinal Dystrophy 54
Renal Dysplasia Retinal Aplasia 48
Senior Loken Syndrome 48
Loken Senior Syndrome 11
Loken-Senior Syndrome 48
Slsn1 70
Slsn 54

Characteristics:

Orphanet epidemiological data:

54
senior-loken syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age

HPO:

64
senior-loken syndrome-1:
Inheritance: autosomal recessive inheritance, heterogeneous

Classifications:



External Ids:

OMIM52 266900
Disease Ontology11 DOID:0050576
ICD1030 Q61.5
Orphanet54 ORPHA3156
MESH via Orphanet40 C537580
ICD10 via Orphanet31 Q61.5
MedGen37 C0403553

Summaries for Senior-Loken Syndrome-1

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NIH Rare Diseases:48 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 senior-loken syndrome 5 and senior-loken syndrome 4, and has symptoms including polyuria, polyuria and polydipsia. An important gene associated with Senior-Loken Syndrome-1 is NPHP1 (Nephrocystin 1), 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.

UniProtKB/Swiss-Prot:70 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.

OMIM:52 Senior-Loken syndrome is an autosomal recessive disease with the main features of nephronophthisis (NPHP; see 256100)... (266900) more...

Disease Ontology:11 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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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
Senior-Loken Syndrome 9

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

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1senior-loken syndrome 512.5
2senior-loken syndrome 412.5
3senior-loken syndrome 712.5
4senior-loken syndrome 612.5
5senior-loken syndrome 812.4
6senior-loken syndrome 912.4
7senior-loken syndrome 312.2
8joubert syndrome with oculorenal anomalies11.3
9nephronophthisis 1, juvenile11.1
10senior-løken syndrome11.1
11retinitis10.4
12bardet-biedl syndrome 1410.3CEP290, IQCB1
13night blindness, congenital stationary , 1c, autosomal recessive10.3CEP164, INVS
14cervical aortic arch10.2NPHP3, XPNPEP3
15porencephaly10.2INVS, IQCB1, NPHP3
16coats disease10.2
17ciliopathy10.2
18nephronophthisis10.2
19frontonasal dysplasia 310.2CEP290, TMEM67
20jmp syndrome10.2INVS, NPHP1, NPHP3
21aortic aneurysm, familial thoracic 710.1IFT140, TTC21B, WDR19
22lymph node adenoid cystic carcinoma10.1INVS, NPHP1, NPHP3, NPHP4
23kidney papillary necrosis10.1INVS, NPHP1, NPHP3, NPHP4
24familial abdominal aortic aneurysm10.1IFT140, TTC21B, WDR19
25joubert syndrome 1010.1CEP290, RPGR
26polyp of corpus uteri10.1TMEM67, WDR19
27chronic myocardial ischemia10.1INVS, MKS1, NPHP1
28juvenile macular degeneration and hypotrichosis10.1AHI1, MKS1
29intestinal schistosomiasis10.1IFT140, NPHP4, TTC21B, WDR19
30cataract10.1
31leber congenital amaurosis10.1
32retinitis pigmentosa10.1
33microcephaly10.1
34acute pancreatitis10.1
35pancreatitis10.1
36retinal degeneration10.1
37hypertensive nephropathy10.0INVS, NPHP1, NPHP3, NPHP4, TTC21B
38hypertrichotic osteochondrodysplasia10.0IFT140, RPGR
39nephronophthisis 49.9IQCB1, NPHP1, NPHP3, NPHP4, TMEM67, WDR19
40congenital heart defects, hamartomas of tongue, and polysyndactyly9.9CC2D2A, NPHP3, TMEM67
41hemorrhagic destruction of the brain, subependymal calcification, and cataracts9.9AHI1, MKS1, TMEM216, TMEM67
42liver cirrhosis9.9CEP164, CEP290, IFT140, IQCB1, NPHP4, RPGR
43dicer1-related disorders9.8CC2D2A, TMEM67
44trichomoniasis9.7CEP290, INVS, MKS1, NPHP1, NPHP4, SDCCAG8
45age-related hearing impairment 29.6AHI1, CC2D2A, CEP290, MKS1, TMEM67
46puerperal pulmonary embolism9.6AHI1, CC2D2A, CEP290, IFT140, RPGR
47engelhard yatziv syndrome9.6CC2D2A, CEP290, MKS1, NPHP3, TMEM216, TMEM67
48lrrk2-related parkinson disease9.6AHI1, CC2D2A, CEP290, NPHP1, TMEM67, TTC21B
49juvenile ossifying fibroma9.5AHI1, CC2D2A, CEP290, MKS1, TMEM216, TMEM67
50cerebral atherosclerosis9.5CEP164, CEP290, INVS, NPHP1, NPHP3, NPHP4

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



Diseases related to senior-loken syndrome-1

Symptoms & Phenotypes for Senior-Loken Syndrome-1

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Symptoms by clinical synopsis from OMIM:

266900

Clinical features from OMIM:

266900

Human phenotypes related to Senior-Loken Syndrome-1:

 54 64 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephronophthisis64 54 Frequent (79-30%) HP:0000090
2 visual impairment64 54 Very frequent (99-80%) HP:0000505
3 cataract64 54 Occasional (29-5%) HP:0000518
4 progressive visual loss64 54 Frequent (79-30%) HP:0000529
5 retinal dystrophy64 54 Very frequent (99-80%) HP:0000556
6 hypertension64 54 Very frequent (99-80%) HP:0000822
7 ataxia64 54 Occasional (29-5%) HP:0001251
8 global developmental delay64 54 Very frequent (99-80%) HP:0001263
9 congenital hepatic fibrosis64 54 Occasional (29-5%) HP:0002612
10 stage 5 chronic kidney disease64 54 Very frequent (99-80%) HP:0003774
11 short stature64 54 Very frequent (99-80%) HP:0004322
12 abnormality of bone mineral density64 54 Occasional (29-5%) HP:0004348
13 abnormality of retinal pigmentation64 54 Very frequent (99-80%) HP:0007703
14 premature ovarian failure64 54 Frequent (79-30%) HP:0008209
15 cone-shaped epiphysis64 54 Occasional (29-5%) HP:0010579
16 chronic kidney disease54 Very frequent (99-80%)
17 polyuria64 HP:0000103
18 tapetoretinal degeneration64 HP:0000547
19 anemia64 HP:0001903
20 polydipsia64 HP:0001959

UMLS symptoms related to Senior-Loken Syndrome-1:


polyuria, polydipsia

MGI Mouse Phenotypes related to Senior-Loken Syndrome-1 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.8CC2D2A, IFT140, INVS, MKS1, SDCCAG8, TMEM67
2MP:00053718.5CC2D2A, IFT140, MKS1, SDCCAG8, TMEM67, TRAF3IP1
3MP:00053828.3CC2D2A, CEP290, IFT140, MKS1, NPHP3, SDCCAG8
4MP:00053808.2CC2D2A, IFT140, INVS, MKS1, NPHP3, TMEM67
5MP:00053858.1CC2D2A, CEP290, IFT140, INVS, MKS1, NPHP3
6MP:00053677.2AHI1, CC2D2A, CEP290, IFT140, INVS, MKS1
7MP:00053846.9AHI1, CC2D2A, CEP290, IFT140, INVS, MKS1
8MP:00053916.8AHI1, CC2D2A, CEP290, IFT140, MKS1, NPHP1
9MP:00036316.7AHI1, CC2D2A, CEP290, IFT140, MKS1, NPHP3
10MP:00107686.7AHI1, CC2D2A, CEP164, CEP290, IFT140, INVS

Drugs & Therapeutics for Senior-Loken Syndrome-1

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Drugs for Senior-Loken Syndrome-1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Liver Extracts4067

Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical and Molecular Investigations Into CiliopathiesActive, not recruitingNCT00068224

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 Syndrome 127 24 NPHP1
2 Renal Dysplasia and Retinal Aplasia27
3 Senior-Loken Syndrome24 SDCCAG8

Anatomical Context for Senior-Loken Syndrome-1

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

36
Kidney, Eye, Bone

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
id Gene Variation Type Significance SNP ID Assembly Location
1NPHP1NPHP1, DELdeletionPathogenic

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
1centriolar satelliteGO:003445110.9CEP290, SDCCAG8
2ciliary baseGO:009754610.5NPHP3, NPHP4, TRAF3IP1
3intraciliary transport particle AGO:003099110.3IFT140, TTC21B, WDR19
4ciliary tipGO:009754210.2IFT140, TRAF3IP1, TTC21B, WDR19
5cell-cell junctionGO:000591110.2AHI1, NPHP1, NPHP4, SDCCAG8
6non-motile ciliumGO:00977309.7AHI1, IFT140, NPHP4, WDR19
7photoreceptor connecting ciliumGO:00323919.6CEP290, IFT140, IQCB1, NPHP1, NPHP4, WDR19
8centrioleGO:00058149.6AHI1, CEP164, CEP290, IQCB1, MKS1, SDCCAG8
9photoreceptor outer segmentGO:00017509.3IFT140, IQCB1, RPGR, WDR19
10microtubule organizing centerGO:00058159.3CEP290, IFT140, IQCB1, MKS1, NPHP4, RPGR
11ciliary basal bodyGO:00360649.0AHI1, CEP290, IFT140, MKS1, NPHP4, RPGR
12ciliary transition zoneGO:00358698.7CC2D2A, CEP290, MKS1, NPHP4, TMEM216, TMEM67
13MKS complexGO:00360388.4AHI1, CC2D2A, CEP290, MKS1, TMEM216, TMEM67
14centrosomeGO:00058138.0AHI1, CEP164, CEP290, IFT140, IQCB1, MKS1
15cytosolGO:00058297.0AHI1, CC2D2A, CEP164, CEP290, IQCB1, MKS1
16cell projectionGO:00429956.3AHI1, CC2D2A, CEP290, IFT140, INVS, MKS1
17ciliumGO:00059296.3AHI1, CC2D2A, CEP290, IFT140, INVS, MKS1
18cytoskeletonGO:00058565.9AHI1, CC2D2A, CEP164, CEP290, IFT140, INVS
19cytoplasmGO:00057375.6AHI1, CC2D2A, CEP164, CEP290, IFT140, INVS

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

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1maintenance of animal organ identityGO:004849610.6IQCB1, NPHP3
2positive regulation of bicellular tight junction assemblyGO:190334810.6NPHP1, NPHP4
3neural tube patterningGO:002153210.5IFT140, TRAF3IP1
4G2/M transition of mitotic cell cycleGO:000008610.5CEP164, CEP290, SDCCAG8
5protein localization to ciliumGO:006151210.4IFT140, TTC21B
6regulation of Wnt signaling pathway, planar cell polarity pathwayGO:200009510.4MKS1, NPHP3
7hindbrain developmentGO:003090210.4AHI1, CEP290
8embryonic camera-type eye developmentGO:003107610.4IFT140, TRAF3IP1, WDR19
9photoreceptor cell maintenanceGO:004549410.4IQCB1, NPHP3, NPHP4
10morphogenesis of a polarized epitheliumGO:000173810.3AHI1, TRAF3IP1
11intraciliary retrograde transportGO:003572110.3IFT140, TTC21B, WDR19
12retina development in camera-type eyeGO:006004110.3IFT140, NPHP1, NPHP4
13embryonic digit morphogenesisGO:004273310.2IFT140, MKS1, TRAF3IP1
14intraciliary transportGO:004207310.1IFT140, RPGR, TRAF3IP1
15regulation of smoothened signaling pathwayGO:000858910.1IFT140, MKS1, TTC21B
16visual behaviorGO:000763210.1NPHP1, NPHP4
17intraciliary transport involved in cilium assemblyGO:003573510.0IFT140, TRAF3IP1, TTC21B, WDR19
18photoreceptor cell outer segment organizationGO:003584510.0AHI1, IFT140, NPHP4
19motile cilium assemblyGO:00444589.9CC2D2A, MKS1
20embryonic brain developmentGO:19904039.7CC2D2A, IFT140, MKS1
21determination of left/right symmetryGO:00073689.4CC2D2A, IFT140, MKS1, NPHP3
22non-motile cilium assemblyGO:19055159.4CC2D2A, IFT140, MKS1, NPHP3
23smoothened signaling pathwayGO:00072249.2CC2D2A, TTC21B, WDR19
24ciliary basal body dockingGO:00977117.5AHI1, CC2D2A, CEP164, CEP290, IQCB1, MKS1
25cell projection organizationGO:00300306.7AHI1, CC2D2A, CEP164, CEP290, IFT140, IQCB1
26cilium assemblyGO:00602716.7AHI1, CC2D2A, CEP164, CEP290, IFT140, IQCB1

Sources for Senior-Loken Syndrome-1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet