MCID: SNR012
MIFTS: 37

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 49 11
Senior-Loken Syndrome 10 45 22 12 51
Juvenile Nephronophthisis with Leber Amaurosis 45 22 67
Renal Dysplasia and Retinal Aplasia 22 67 65
Senior-Loken Syndrome 1 22 67 24
Renal-Retinal Syndrome 10 45 22
Renal Dysplasia-Retinal Aplasia Syndrome 51 24
 
Nephronophthisis with Retinal Dystrophy 51
Renal Dysplasia Retinal Aplasia 45
Senior Loken Syndrome 45
Loken Senior Syndrome 10
Loken-Senior Syndrome 45
Slsn1 67
Slsn 51

Characteristics:

Orphanet epidemiological data:

51
senior-loken syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age

HPO:

61
senior-loken syndrome-1:
Inheritance: heterogeneous, autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 266900
Disease Ontology10 DOID:0050576
ICD1027 Q61.5
Orphanet51 3156
ICD10 via Orphanet28 Q61.5
MESH via Orphanet37 C537580
MedGen34 C0403553
UMLS65 C0403553

Summaries for Senior-Loken Syndrome-1

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NIH Rare Diseases:45 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 joubert syndrome with oculorenal anomalies 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 Intraflagellar transport and Signaling by Hedgehog. Affiliated tissues include kidney, eye and bone, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Disease Ontology:10 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:49 Senior-Loken syndrome is an autosomal recessive disease with the main features of nephronophthisis (NPHP; see 256100)... (266900) more...

UniProtKB/Swiss-Prot:67 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 64)
idRelated DiseaseScoreTop Affiliating Genes
1joubert syndrome with oculorenal anomalies32.8AHI1, MKS1
2nephronophthisis 1, juvenile30.7AHI1, INVS, NPHP1, NPHP3, NPHP4
3senior-loken syndrome 512.9
4senior-loken syndrome 412.9
5senior-loken syndrome 712.9
6senior-loken syndrome 612.9
7senior-loken syndrome 812.9
8senior-loken syndrome 912.9
9senior-loken syndrome 312.7
10senior-løken syndrome11.6
11esophagitis10.7
12colorectal cancer10.5
13myocardial infarction10.5
14synesthesia10.5
15esophageal cancer10.5
16hodgkin lymphoma10.5
17alzheimer disease10.5
18aneurysmal bone cysts10.5
19lymphoma10.5
20posterior uveitis10.5
21uveitis10.5
22hypothyroidism10.5
23retinitis10.5
24neuromuscular disease10.5
25pancreatitis10.5
26status asthmaticus10.5
27dacryoadenitis10.5
28cytomegalovirus retinitis10.5
29tardive dyskinesia10.5
30aneurysm10.5
31serotonin syndrome10.5
32nephronophthisis 410.3NPHP1, NPHP4, WDR19
33atypical hemolytic-uremic syndrome with b factor anomaly10.3NPHP3, XPNPEP3
34ptosis10.3INVS, IQCB1, NPHP3
35joubert syndrome with renal anomalies10.2CEP290, NPHP4, TMEM216
36congenital adrenal insufficiency10.2INVS, NPHP1, NPHP3
37medullary cystic kidney disease 210.2NPHP1, NPHP4
38corneal dystrophy, congenital stromal10.2CEP290, TMEM67
39cogan-reese syndrome10.2INVS, NPHP1, NPHP3, NPHP4
40cranioectodermal dysplasia 110.2IFT140, TTC21B, WDR19
41weyers acrofacial dysostosis10.1IFT140, TTC21B, WDR19
42simpson-golabi-behmel syndrome, type 210.1CEP290, RPGR
43cervix uteri carcinoma in situ10.1TMEM67, WDR19
44isobutyryl-coa dehydrogenase deficiency10.1MKS1, TMEM216
45spinal canal intradural extramedullary neoplasm10.1CEP290, IQCB1, NPHP1, NPHP4, SDCCAG8
46panic disorder 210.0INVS, NPHP1, NPHP3, NPHP4, TTC21B
47retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness10.0IQCB1, RPGR, RPGRIP1
48pancreatic agenesis9.9INVS, NPHP1, NPHP3, TMEM67, WDR19
49primary hyperoxaluria9.9INVS, NPHP1, NPHP3, NPHP4, XPNPEP3
50orofaciodigital syndrome vii9.8ARL13B, CEP290, TMEM216

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:

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

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 Extracts3572

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 Senior-Loken Syndrome22 SDCCAG8
2 Senior-Loken Syndrome 122 NPHP1

Anatomical Context for Senior-Loken Syndrome-1

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

33
Kidney, Eye, Bone, Liver

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

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.6IFT140, MKS1, SDCCAG8, TMEM67, TRAF3IP1, TTC21B
2MP:00053827.8CEP290, IFT140, MKS1, NPHP3, SDCCAG8, TMEM67
3MP:00053807.6ARL13B, IFT140, INVS, MKS1, NPHP3, TMEM67
4MP:00053677.1AHI1, CEP290, IFT140, INVS, MKS1, NPHP1
5MP:00053917.0AHI1, CEP290, IFT140, MKS1, NPHP1, NPHP4
6MP:00053846.6AHI1, CEP290, IFT140, INVS, MKS1, NPHP1
7MP:00107686.3AHI1, ARL13B, CEP164, CEP290, IFT140, INVS
8MP:00036315.2AHI1, ARL13B, CEP290, IFT140, MKS1, 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:

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 12)
idNameGO IDScoreTop Affiliating Genes
1centriolar satelliteGO:003445110.4CEP290, SDCCAG8
2nonmotile primary ciliumGO:003151310.3IFT140, NPHP4
3intraciliary transport particle AGO:003099110.2IFT140, WDR19
4bicellular tight junctionGO:000592310.1NPHP1, NPHP4
5centrioleGO:000581410.0CEP290, MKS1
6ciliary tipGO:00975429.9IFT140, TRAF3IP1, WDR19
7cell-cell junctionGO:00059119.8NPHP1, NPHP4, SDCCAG8
8ciliary transition zoneGO:00358699.8CEP290, MKS1, NPHP4, TRAF3IP1
9cytoskeletonGO:00058569.4NPHP1, NPHP4, TMEM216
10TCTN-B9D complexGO:00360389.3AHI1, MKS1, TMEM216
11ciliumGO:00059299.3AHI1, INVS, RPGRIP1
12photoreceptor connecting ciliumGO:00323919.1CEP290, IFT140, IQCB1, NPHP4, RPGRIP1

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1intraciliary transportGO:004207310.4IFT140, TRAF3IP1
2photoreceptor cell maintenanceGO:004549410.4NPHP3, NPHP4
3morphogenesis of a polarized epitheliumGO:000173810.1AHI1, TRAF3IP1
4regulation of smoothened signaling pathwayGO:00085899.8IFT140, MKS1, TTC21B
5photoreceptor cell outer segment organizationGO:00358459.8AHI1, IFT140, NPHP4
6mitotic cell cycleGO:00002789.5CEP164, CEP290, SDCCAG8
7neural tube patterningGO:00215329.4ARL13B, IFT140, TRAF3IP1
8cilium morphogenesisGO:00602719.0CEP290, IFT140, MKS1, NPHP3, TTC21B, WDR19
9organelle organizationGO:00069968.0ARL13B, IQCB1, NPHP1, NPHP3, TMEM67, TRAF3IP1

Sources for Senior-Loken Syndrome-1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet