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 50 12
Senior-Loken Syndrome 11 46 23 13 52
Juvenile Nephronophthisis with Leber Amaurosis 46 23 68
Renal Dysplasia and Retinal Aplasia 23 68 66
Senior-Loken Syndrome 1 23 68 25
Renal-Retinal Syndrome 11 46 23
Renal Dysplasia-Retinal Aplasia Syndrome 52 25
 
Nephronophthisis with Retinal Dystrophy 52
Renal Dysplasia Retinal Aplasia 46
Senior Loken Syndrome 46
Loken Senior Syndrome 11
Loken-Senior Syndrome 46
Slsn1 68
Slsn 52

Characteristics:

Orphanet epidemiological data:

52
senior-loken syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age

HPO:

62
senior-loken syndrome-1:
Inheritance: autosomal recessive inheritance, heterogeneous


Classifications:



External Ids:

OMIM50 266900
Disease Ontology11 DOID:0050576
ICD1028 Q61.5
Orphanet52 ORPHA3156
ICD10 via Orphanet29 Q61.5
MESH via Orphanet38 C537580
MedGen35 C0403553

Summaries for Senior-Loken Syndrome-1

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NIH Rare Diseases:46 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 bone, and related mouse phenotypes are digestive/alimentary and craniofacial.

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

UniProtKB/Swiss-Prot:68 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 60)
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 812.5
6senior-loken syndrome 912.5
7senior-loken syndrome 312.3
8joubert syndrome with oculorenal anomalies11.4
9senior-løken syndrome11.3
10meckel syndrome 410.7CEP290, IQCB1
11panic disorder 210.5INVS, TTC21B
12antenatal bartter syndrome10.5NPHP3, XPNPEP3
13retinitis10.5
14gallbladder disease10.5INVS, IQCB1, NPHP3
15hereditary sensory neuropathy10.4INVS, NPHP1, NPHP3
16corneal dystrophy, congenital stromal10.4CEP290, TMEM67
17coats disease10.3
18ciliopathy10.3
19nephronophthisis10.3
20hepatopulmonary syndrome10.3TMEM67, WDR19
21joubert syndrome 1010.3CEP290, RPGR
22third cranial nerve disease10.3CEP290, IQCB1, NPHP1, NPHP4
23cranioectodermal dysplasia 110.3IFT140, TTC21B, WDR19
24nephronophthisis 1, juvenile10.3
25macular degeneration, x-linked atrophic10.3IQCB1, RPGR
26crest syndrome10.3INVS, NPHP1, NPHP3, NPHP4
27cataract10.2
28leber congenital amaurosis10.2
29retinitis pigmentosa10.2
30microcephaly10.2
31acute pancreatitis10.2
32pancreatitis10.2
33retinal degeneration10.2
34jejunal atresia with renal adysplasia10.2AHI1, MKS1
35glomerulocystic kidney disease with hyperuricemia and isosthenuria10.1NPHP1, NPHP4
36osteopoikilosis and dacryocystitis10.1IFT140, RPGR
37creatine deficiency syndromes10.1CC2D2A, TMEM67
38hypertrichotic osteochondrodysplasia10.0IFT140, RPGR
39ichthyosis, congenital, autosomal recessive 310.0IFT140, RPGR
40isobutyryl-coa dehydrogenase deficiency10.0MKS1, TMEM216, TMEM67
41nephronophthisis 49.9IQCB1, NPHP1, NPHP4, TMEM67, WDR19
42chiari malformation9.9CC2D2A, CEP290, NPHP4, TMEM216
43porokeratosis 9, multiple types9.9IFT140, INVS, NPHP4, RPGR
44carbohydrate metabolic disorder9.9INVS, NPHP1, NPHP3, NPHP4, XPNPEP3
45fragile x-associated tremor/ataxia syndrome9.9INVS, NPHP1, NPHP3, TMEM67, WDR19
46van buchem disease9.9IFT140, NPHP1, NPHP4, RPGR
47acrofacial dysostosis9.8ARL13B, TMEM216
48huntington disease-like 39.8CC2D2A, TMEM67
49limbal stem cell deficiency9.5CEP164, CEP290, IFT140, IQCB1, NPHP4, RPGR
50taeniasis9.3ARL13B, IFT140, NPHP4, TTC21B, WDR19

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:

 52 (show all 16)
  • nephronophthisis
  • visual impairment
  • cataract
  • progressive visual loss
  • retinal dystrophy
  • hypertension
  • ataxia
  • global developmental delay
  • congenital hepatic fibrosis
  • stage 5 chronic kidney disease
  • short stature
  • abnormality of bone mineral density
  • abnormal retinal pigmentation
  • premature ovarian failure
  • cone-shaped epiphysis
  • chronic kidney disease

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

(show all 20)
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 nephronophthisis HP:0000090
16 polyuria HP:0000103
17 tapetoretinal degeneration HP:0000547
18 anemia HP:0001903
19 polydipsia HP:0001959
20 stage 5 chronic kidney disease HP:0003774

UMLS symptoms related to Senior-Loken Syndrome-1:


polyuria, polydipsia

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 Renal Dysplasia and Retinal Aplasia25
2 Senior-Loken Syndrome 125 23 NPHP1
3 Senior-Loken Syndrome23 SDCCAG8

Anatomical Context for Senior-Loken Syndrome-1

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

34
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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.4CC2D2A, IFT140, INVS, MKS1, SDCCAG8, TMEM67
2MP:00053828.0CC2D2A, CEP290, IFT140, MKS1, NPHP3, SDCCAG8
3MP:00053717.8CC2D2A, IFT140, MKS1, SDCCAG8, TMEM67, TRAF3IP1
4MP:00053807.0ARL13B, CC2D2A, IFT140, INVS, MKS1, NPHP3
5MP:00053916.8AHI1, CC2D2A, CEP290, IFT140, MKS1, NPHP1
6MP:00053676.4AHI1, CC2D2A, CEP290, IFT140, INVS, MKS1
7MP:00053846.3AHI1, CC2D2A, CEP290, IFT140, INVS, MKS1
8MP:00053786.0AHI1, ARL13B, CC2D2A, CEP290, IFT140, INVS
9MP:00107685.8AHI1, ARL13B, CC2D2A, CEP164, CEP290, IFT140
10MP:00036315.2AHI1, 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
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:003445110.7CEP290, SDCCAG8
2intraciliary transport particle AGO:003099110.3IFT140, TTC21B, WDR19
3ciliary baseGO:009754610.2NPHP3, NPHP4, TRAF3IP1
4ciliary tipGO:00975429.9IFT140, TRAF3IP1, TTC21B, WDR19
5photoreceptor outer segmentGO:00017509.9IFT140, IQCB1, RPGR, WDR19
6photoreceptor connecting ciliumGO:00323919.7CEP290, IFT140, IQCB1, NPHP1, NPHP4, WDR19
7cell-cell junctionGO:00059119.6AHI1, NPHP1, NPHP4, SDCCAG8
8motile ciliumGO:00315149.5ARL13B, NPHP1, WDR19
9centrioleGO:00058149.4AHI1, CEP164, CEP290, MKS1, SDCCAG8
10axonemeGO:00059309.3ARL13B, IFT140, TRAF3IP1
11nonmotile primary ciliumGO:00315139.3AHI1, IFT140, WDR19
12cytoskeletonGO:00058569.2CC2D2A, NPHP1, TMEM216, TTC21B, WDR19
13ciliary transition zoneGO:00358698.7CC2D2A, CEP290, MKS1, NPHP4, TMEM216, TMEM67
14ciliary basal bodyGO:00360648.6AHI1, CEP290, IFT140, MKS1, RPGR, TRAF3IP1
15MKS complexGO:00360388.6AHI1, CC2D2A, CEP290, MKS1, TMEM216, TMEM67
16primary ciliumGO:00723727.7AHI1, ARL13B, IFT140, NPHP3, RPGR, TRAF3IP1
17ciliumGO:00059297.4AHI1, ARL13B, IFT140, INVS, NPHP3, TMEM216
18centrosomeGO:00058137.3AHI1, CEP164, CEP290, IFT140, IQCB1, MKS1
19cytosolGO:00058297.0AHI1, CC2D2A, CEP164, CEP290, IQCB1, MKS1

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

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of bicellular tight junction assemblyGO:190334810.7NPHP1, NPHP4
2visual behaviorGO:000763210.7NPHP1, NPHP4
3maintenance of animal organ identityGO:004849610.6IQCB1, NPHP3
4embryonic camera-type eye developmentGO:003107610.6TRAF3IP1, WDR19
5protein localization to ciliumGO:006151210.3IFT140, TTC21B
6regulation of Wnt signaling pathway, planar cell polarity pathwayGO:200009510.2MKS1, NPHP3
7intraciliary retrograde transportGO:003572110.2IFT140, TTC21B, WDR19
8morphogenesis of a polarized epitheliumGO:000173810.2AHI1, TRAF3IP1
9motile primary cilium assemblyGO:190388710.1CC2D2A, MKS1
10hindbrain developmentGO:003090210.0AHI1, CEP290
11G2/M transition of mitotic cell cycleGO:000008610.0CEP164, CEP290, SDCCAG8
12embryonic brain developmentGO:199040310.0CC2D2A, MKS1
13intraciliary transportGO:00420739.9IFT140, RPGR, TRAF3IP1
14regulation of smoothened signaling pathwayGO:00085899.9IFT140, MKS1, TTC21B
15retina development in camera-type eyeGO:00600419.7IFT140, NPHP1, NPHP4
16photoreceptor cell outer segment organizationGO:00358459.7AHI1, IFT140, NPHP4
17neural tube patterningGO:00215329.7ARL13B, IFT140, TRAF3IP1
18photoreceptor cell maintenanceGO:00454949.5IQCB1, NPHP3, NPHP4
19left/right axis specificationGO:00709869.4AHI1, ARL13B
20heart loopingGO:00019479.1AHI1, ARL13B, NPHP3
21nonmotile primary cilium assemblyGO:00350589.0ARL13B, CC2D2A, MKS1
22smoothened signaling pathwayGO:00072248.7ARL13B, CC2D2A, TTC21B, WDR19
23determination of left/right symmetryGO:00073688.1ARL13B, CC2D2A, IFT140, MKS1, NPHP3
24cilium morphogenesisGO:00602717.0AHI1, CC2D2A, CEP290, IFT140, MKS1, NPHP3
25cilium assemblyGO:00423845.6AHI1, ARL13B, CC2D2A, CEP164, CEP290, IFT140

Sources for Senior-Loken Syndrome-1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet