MCID: SNR012
MIFTS: 49

Senior-Loken Syndrome-1 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 51 12
Senior-Loken Syndrome 11 47 24 53 13
Juvenile Nephronophthisis with Leber Amaurosis 47 24 69
Renal Dysplasia and Retinal Aplasia 24 69 67
Senior-Loken Syndrome 1 24 69 26
Renal-Retinal Syndrome 11 47 24
Renal Dysplasia-Retinal Aplasia Syndrome 53 26
 
Nephronophthisis with Retinal Dystrophy 53
Renal Dysplasia Retinal Aplasia 47
Senior Loken Syndrome 47
Loken Senior Syndrome 11
Loken-Senior Syndrome 47
Slsn1 69
Slsn 53

Characteristics:

Orphanet epidemiological data:

53
senior-loken syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age

HPO:

63
senior-loken syndrome-1:
Inheritance: autosomal recessive inheritance, heterogeneous

Classifications:



External Ids:

OMIM51 266900
Disease Ontology11 DOID:0050576
ICD1029 Q61.5
Orphanet53 ORPHA3156
MESH via Orphanet39 C537580
ICD10 via Orphanet30 Q61.5
MedGen36 C0403553

Summaries for Senior-Loken Syndrome-1

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NIH Rare Diseases:47 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 multicystic kidney dysplasia, polycystic kidney dysplasia and visual impairment. 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 liver, and related mouse phenotypes are digestive/alimentary and limbs/digits/tail.

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.

OMIM:51 Senior-Loken syndrome is an autosomal recessive disease with the main features of nephronophthisis (NPHP; see 256100)... (266900) more...

UniProtKB/Swiss-Prot:69 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
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 57)
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, juvenile11.2
10senior-løken syndrome11.1
11meckel syndrome 410.6CEP290, IQCB1
12antenatal bartter syndrome10.5NPHP3, XPNPEP3
13panic disorder 210.5INVS, TTC21B
14gallbladder disease10.4INVS, IQCB1, NPHP3
15corneal dystrophy, congenital stromal10.4CEP290, TMEM67
16retinitis10.4
17joubert syndrome 1010.3CEP290, RPGR
18hepatopulmonary syndrome10.3TMEM67, WDR19
19third cranial nerve disease10.3CEP290, IQCB1, NPHP1, NPHP4
20macular degeneration, x-linked atrophic10.3IQCB1, RPGR
21cranioectodermal dysplasia 110.3IFT140, TTC21B, WDR19
22glomerulocystic kidney disease with hyperuricemia and isosthenuria10.3NPHP1, NPHP4
23crest syndrome10.3INVS, NPHP1, NPHP3, NPHP4
24jejunal atresia with renal adysplasia10.2AHI1, MKS1
25coats disease10.2
26ciliopathy10.2
27nephronophthisis10.2
28osteopoikilosis and dacryocystitis10.2IFT140, RPGR
29hypertrichotic osteochondrodysplasia10.1IFT140, RPGR
30taeniasis10.1IFT140, NPHP4, TTC21B, WDR19
31isobutyryl-coa dehydrogenase deficiency10.1MKS1, TMEM216, TMEM67
32cataract10.1
33leber congenital amaurosis10.1
34retinitis pigmentosa10.1
35microcephaly10.1
36acute pancreatitis10.1
37pancreatitis10.1
38retinal degeneration10.1
39nephronophthisis 410.0IQCB1, NPHP1, NPHP4, TMEM67, WDR19
40porokeratosis 9, multiple types10.0IFT140, INVS, NPHP4, RPGR
41fragile x-associated tremor/ataxia syndrome9.9INVS, NPHP1, NPHP3, TMEM67, WDR19
42carbohydrate metabolic disorder9.9INVS, NPHP1, NPHP3, NPHP4, XPNPEP3
43van buchem disease9.9IFT140, NPHP1, NPHP4, RPGR
44creatine deficiency syndromes9.8CC2D2A, TMEM67
45ichthyosis, congenital, autosomal recessive 39.8IFT140, RPGR
46chiari malformation9.7CC2D2A, CEP290, NPHP4, TMEM216
47huntington disease-like 39.6CC2D2A, TMEM67
48limbal stem cell deficiency9.6CEP164, CEP290, IFT140, IQCB1, NPHP4, RPGR
49auditory agnosia9.4AHI1, CC2D2A, NPHP1, TMEM216
50telogen effluvium9.4CEP290, MKS1, NPHP1, NPHP4, SDCCAG8, TMEM67

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

Human phenotypes related to Senior-Loken Syndrome-1:

 63 53 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia63 hallmark (90%) HP:0000003
2 polycystic kidney dysplasia63 hallmark (90%) HP:0000113
3 visual impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0000505
4 hypertension63 53 hallmark (90%) Very frequent (99-80%) HP:0000822
5 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
6 abnormality of retinal pigmentation63 53 hallmark (90%) Very frequent (99-80%) HP:0007703
7 cognitive impairment63 hallmark (90%) HP:0100543
8 abnormality of the renal tubule63 typical (50%) HP:0000091
9 cataract63 53 occasional (7.5%) Occasional (29-5%) HP:0000518
10 incoordination63 occasional (7.5%) HP:0002311
11 congenital hepatic fibrosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002612
12 abnormality of bone mineral density63 53 occasional (7.5%) Occasional (29-5%) HP:0004348
13 cone-shaped epiphysis63 53 occasional (7.5%) Occasional (29-5%) HP:0010579
14 nephronophthisis63 53 Frequent (79-30%) HP:0000090
15 polyuria63 HP:0000103
16 tapetoretinal degeneration63 HP:0000547
17 anemia63 HP:0001903
18 polydipsia63 HP:0001959
19 stage 5 chronic kidney disease63 53 Very frequent (99-80%) HP:0003774
20 progressive visual loss53 Frequent (79-30%)
21 retinal dystrophy53 Very frequent (99-80%)
22 ataxia53 Occasional (29-5%)
23 global developmental delay53 Very frequent (99-80%)
24 premature ovarian failure53 Frequent (79-30%)
25 chronic kidney disease53 Very frequent (99-80%)

UMLS symptoms related to Senior-Loken Syndrome-1:


polyuria, polydipsia

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 Extracts3868

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 Renal Dysplasia and Retinal Aplasia26
2 Senior-Loken Syndrome 126 24 NPHP1
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:

35
Kidney, Eye, Liver, Bone

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

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

40
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:00053677.2AHI1, CC2D2A, CEP290, IFT140, INVS, MKS1
6MP:00053846.9AHI1, CC2D2A, CEP290, IFT140, INVS, MKS1
7MP:00053916.8AHI1, CC2D2A, CEP290, IFT140, MKS1, NPHP1
8MP:00036316.7AHI1, CC2D2A, CEP290, IFT140, MKS1, NPHP3
9MP:00107686.7AHI1, CC2D2A, CEP164, CEP290, IFT140, INVS

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, DELdeletionPathogenicChr na, -1: -1

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 15)
idNameGO IDScoreTop Affiliating Genes
1centriolar satelliteGO:003445110.7CEP290, SDCCAG8
2intraciliary transport particle AGO:003099110.4IFT140, TTC21B, WDR19
3ciliary baseGO:009754610.3NPHP3, NPHP4, TRAF3IP1
4ciliary tipGO:009754210.0IFT140, TRAF3IP1, TTC21B, WDR19
5photoreceptor outer segmentGO:000175010.0IFT140, IQCB1, RPGR, WDR19
6cell-cell junctionGO:00059119.9AHI1, NPHP1, NPHP4, SDCCAG8
7photoreceptor connecting ciliumGO:00323919.8CEP290, IFT140, IQCB1, NPHP1, NPHP4, WDR19
8centrioleGO:00058149.6AHI1, CEP164, CEP290, MKS1, SDCCAG8
9ciliary basal bodyGO:00360648.9AHI1, CEP290, IFT140, MKS1, RPGR, TRAF3IP1
10cytoskeletonGO:00058568.6CC2D2A, NPHP1, TMEM216, TTC21B, WDR19
11ciliary transition zoneGO:00358698.5CC2D2A, CEP290, MKS1, NPHP4, TMEM216, TMEM67
12MKS complexGO:00360388.5AHI1, CC2D2A, CEP290, MKS1, TMEM216, TMEM67
13ciliumGO:00059298.2AHI1, IFT140, INVS, NPHP3, TMEM216, TRAF3IP1
14centrosomeGO:00058136.9AHI1, CEP164, CEP290, IFT140, IQCB1, MKS1
15cytosolGO:00058296.4AHI1, CC2D2A, CEP164, CEP290, IQCB1, MKS1

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1visual behaviorGO:000763210.7NPHP1, NPHP4
2maintenance of animal organ identityGO:004849610.6IQCB1, NPHP3
3embryonic camera-type eye developmentGO:003107610.6TRAF3IP1, WDR19
4neural tube patterningGO:002153210.5IFT140, TRAF3IP1
5positive regulation of bicellular tight junction assemblyGO:190334810.5NPHP1, NPHP4
6morphogenesis of a polarized epitheliumGO:000173810.3AHI1, TRAF3IP1
7protein localization to ciliumGO:006151210.3IFT140, TTC21B
8regulation of Wnt signaling pathway, planar cell polarity pathwayGO:200009510.3MKS1, NPHP3
9intraciliary retrograde transportGO:003572110.2IFT140, TTC21B, WDR19
10hindbrain developmentGO:003090210.1AHI1, CEP290
11G2/M transition of mitotic cell cycleGO:000008610.0CEP164, CEP290, SDCCAG8
12intraciliary transportGO:004207310.0IFT140, RPGR, TRAF3IP1
13retina development in camera-type eyeGO:006004110.0IFT140, NPHP1, NPHP4
14regulation of smoothened signaling pathwayGO:00085899.9IFT140, MKS1, TTC21B
15photoreceptor cell outer segment organizationGO:00358459.9AHI1, IFT140, NPHP4
16embryonic brain developmentGO:19904039.7CC2D2A, MKS1
17photoreceptor cell maintenanceGO:00454949.5IQCB1, NPHP3, NPHP4
18smoothened signaling pathwayGO:00072249.4CC2D2A, TTC21B, WDR19
19determination of left/right symmetryGO:00073688.8CC2D2A, IFT140, MKS1, NPHP3
20cilium assemblyGO:00602716.2AHI1, CC2D2A, CEP164, CEP290, IFT140, IQCB1

Sources for Senior-Loken Syndrome-1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet