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

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.

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 & 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:

 64 54 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multicystic kidney dysplasia64 hallmark (90%) HP:0000003
2 polycystic kidney dysplasia64 hallmark (90%) HP:0000113
3 visual impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0000505
4 hypertension64 54 hallmark (90%) Very frequent (99-80%) HP:0000822
5 short stature64 54 hallmark (90%) Very frequent (99-80%) HP:0004322
6 abnormality of retinal pigmentation64 54 hallmark (90%) Very frequent (99-80%) HP:0007703
7 cognitive impairment64 hallmark (90%) HP:0100543
8 abnormality of the renal tubule64 typical (50%) HP:0000091
9 cataract64 54 occasional (7.5%) Occasional (29-5%) HP:0000518
10 incoordination64 occasional (7.5%) HP:0002311
11 congenital hepatic fibrosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002612
12 abnormality of bone mineral density64 54 occasional (7.5%) Occasional (29-5%) HP:0004348
13 cone-shaped epiphysis64 54 occasional (7.5%) Occasional (29-5%) HP:0010579
14 nephronophthisis64 54 Frequent (79-30%) HP:0000090
15 polyuria64 HP:0000103
16 tapetoretinal degeneration64 HP:0000547
17 anemia64 HP:0001903
18 polydipsia64 HP:0001959
19 stage 5 chronic kidney disease64 54 Very frequent (99-80%) HP:0003774
20 progressive visual loss54 Frequent (79-30%)
21 retinal dystrophy54 Very frequent (99-80%)
22 ataxia54 Occasional (29-5%)
23 global developmental delay54 Very frequent (99-80%)
24 premature ovarian failure54 Frequent (79-30%)
25 chronic kidney disease54 Very frequent (99-80%)

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: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

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 Aplasia27
2 Senior-Loken Syndrome 127 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:

36
Kidney, Eye, Liver, 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, 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:003445110.9CEP290, SDCCAG8
2ciliary baseGO:009754610.5NPHP3, NPHP4, TRAF3IP1
3intraciliary transport particle AGO:003099110.2IFT140, TTC21B, WDR19
4ciliary tipGO:009754210.2IFT140, TRAF3IP1, TTC21B, WDR19
5cell-cell junctionGO:000591110.1AHI1, NPHP1, NPHP4, SDCCAG8
6centrioleGO:00058149.8AHI1, CEP164, CEP290, MKS1, SDCCAG8
7photoreceptor connecting ciliumGO:00323919.6CEP290, IFT140, IQCB1, NPHP1, NPHP4, WDR19
8cytoskeletonGO:00058569.4CC2D2A, NPHP1, TMEM216, TTC21B, WDR19
9photoreceptor outer segmentGO:00017509.3IFT140, IQCB1, RPGR, WDR19
10ciliary basal bodyGO:00360649.2AHI1, CEP290, IFT140, MKS1, RPGR, TRAF3IP1
11ciliumGO:00059298.9AHI1, IFT140, INVS, NPHP3, TMEM216, TRAF3IP1
12ciliary transition zoneGO:00358698.7CC2D2A, CEP290, MKS1, NPHP4, TMEM216, TMEM67
13MKS complexGO:00360388.4AHI1, CC2D2A, CEP290, MKS1, TMEM216, TMEM67
14centrosomeGO:00058137.3AHI1, CEP164, CEP290, IFT140, IQCB1, MKS1
15cytosolGO:00058296.9AHI1, 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
1embryonic camera-type eye developmentGO:003107610.6TRAF3IP1, WDR19
2positive regulation of bicellular tight junction assemblyGO:190334810.6NPHP1, NPHP4
3maintenance of animal organ identityGO:004849610.6IQCB1, NPHP3
4neural tube patterningGO:002153210.5IFT140, TRAF3IP1
5G2/M transition of mitotic cell cycleGO:000008610.5CEP164, CEP290, SDCCAG8
6protein localization to ciliumGO:006151210.4IFT140, TTC21B
7regulation of Wnt signaling pathway, planar cell polarity pathwayGO:200009510.4MKS1, NPHP3
8photoreceptor cell maintenanceGO:004549410.4IQCB1, NPHP3, NPHP4
9hindbrain developmentGO:003090210.4AHI1, CEP290
10morphogenesis of a polarized epitheliumGO:000173810.3AHI1, TRAF3IP1
11retina development in camera-type eyeGO:006004110.3IFT140, NPHP1, NPHP4
12intraciliary retrograde transportGO:003572110.3IFT140, TTC21B, WDR19
13regulation of smoothened signaling pathwayGO:000858910.1IFT140, MKS1, TTC21B
14intraciliary transportGO:004207310.1IFT140, RPGR, TRAF3IP1
15visual behaviorGO:000763210.1NPHP1, NPHP4
16photoreceptor cell outer segment organizationGO:003584510.0AHI1, IFT140, NPHP4
17embryonic brain developmentGO:199040310.0CC2D2A, MKS1
18determination of left/right symmetryGO:00073689.4CC2D2A, IFT140, MKS1, NPHP3
19smoothened signaling pathwayGO:00072249.2CC2D2A, TTC21B, WDR19
20cilium assemblyGO:00602716.9AHI1, 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