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

Aliases & Descriptions for Senior-Loken Syndrome-1:

Name: Senior-Loken Syndrome-1 54 13
Senior-Loken Syndrome 12 50 24 56 14
Juvenile Nephronophthisis with Leber Amaurosis 50 24 66
Renal Dysplasia and Retinal Aplasia 24 66 69
Senior-Loken Syndrome 1 24 66 29
Renal-Retinal Syndrome 12 50 24
Renal Dysplasia-Retinal Aplasia Syndrome 56 29
Nephronophthisis with Retinal Dystrophy 56
Renal Dysplasia Retinal Aplasia 50
Loken Senior Syndrome 12
Senior Loken Syndrome 50
Loken-Senior Syndrome 50
Slsn1 66
Slsn 56

Characteristics:

Orphanet epidemiological data:

56
senior-loken syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age;

HPO:

32
senior-loken syndrome-1:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

OMIM 54 266900
Disease Ontology 12 DOID:0050576
ICD10 33 Q61.5
Orphanet 56 ORPHA3156
MESH via Orphanet 43 C537580
ICD10 via Orphanet 34 Q61.5
MedGen 40 C0403553

Summaries for Senior-Loken Syndrome-1

NIH Rare Diseases : 50 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 anĀ autosomal recessiveĀ 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 ataxia, hypertension and cataract. An important gene associated with Senior-Loken Syndrome-1 is NPHP1 (Nephrocystin 1), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and bone, and related phenotypes are cellular and cardiovascular system

Disease Ontology : 12 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 : 54 Senior-Loken syndrome is an autosomal recessive disease with the main features of nephronophthisis (NPHP; see 256100)... (266900) more...

UniProtKB/Swiss-Prot : 66 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

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)
id Related Disease Score Top Affiliating Genes
1 senior-loken syndrome 5 12.5
2 senior-loken syndrome 4 12.5
3 senior-loken syndrome 7 12.5
4 senior-loken syndrome 6 12.5
5 senior-loken syndrome 8 12.4
6 senior-loken syndrome 9 12.4
7 senior-loken syndrome 3 12.2
8 joubert syndrome with oculorenal anomalies 11.3
9 nephronophthisis 1, juvenile 11.1
10 senior-løken syndrome 11.1
11 retinitis 10.4
12 bardet-biedl syndrome 14 10.3 CEP290 IQCB1
13 night blindness, congenital stationary , 1c, autosomal recessive 10.3 CEP164 INVS
14 cervical aortic arch 10.2 NPHP3 XPNPEP3
15 porencephaly 10.2 INVS IQCB1 NPHP3
16 ciliopathy 10.2
17 nephronophthisis 10.2
18 coats disease 10.2
19 frontonasal dysplasia 3 10.2 CEP290 TMEM67
20 jmp syndrome 10.2 INVS NPHP1 NPHP3
21 aortic aneurysm, familial thoracic 7 10.1 IFT140 TTC21B WDR19
22 lymph node adenoid cystic carcinoma 10.1 INVS NPHP1 NPHP3 NPHP4
23 kidney papillary necrosis 10.1 INVS NPHP1 NPHP3 NPHP4
24 familial abdominal aortic aneurysm 10.1 IFT140 TTC21B WDR19
25 joubert syndrome 10 10.1 CEP290 RPGR
26 polyp of corpus uteri 10.1 TMEM67 WDR19
27 chronic myocardial ischemia 10.1 INVS MKS1 NPHP1
28 juvenile macular degeneration and hypotrichosis 10.1 AHI1 MKS1
29 intestinal schistosomiasis 10.1 IFT140 NPHP4 TTC21B WDR19
30 retinitis pigmentosa 10.1
31 microcephaly 10.1
32 acute pancreatitis 10.1
33 pancreatitis 10.1
34 retinal degeneration 10.1
35 cataract 10.1
36 leber congenital amaurosis 10.1
37 hypertensive nephropathy 10.0 INVS NPHP1 NPHP3 NPHP4 TTC21B
38 hypertrichotic osteochondrodysplasia 10.0 IFT140 RPGR
39 nephronophthisis 4 9.9 IQCB1 NPHP1 NPHP3 NPHP4 TMEM67 WDR19
40 congenital heart defects, hamartomas of tongue, and polysyndactyly 9.9 CC2D2A NPHP3 TMEM67
41 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 9.9 AHI1 MKS1 TMEM216 TMEM67
42 liver cirrhosis 9.9 CEP164 CEP290 IFT140 IQCB1 NPHP4 RPGR
43 dicer1-related disorders 9.8 CC2D2A TMEM67
44 trichomoniasis 9.7 CEP290 INVS MKS1 NPHP1 NPHP4 SDCCAG8
45 age-related hearing impairment 2 9.6 AHI1 CC2D2A CEP290 MKS1 TMEM67
46 puerperal pulmonary embolism 9.6 AHI1 CC2D2A CEP290 IFT140 RPGR
47 engelhard yatziv syndrome 9.6 CC2D2A CEP290 MKS1 NPHP3 TMEM216 TMEM67
48 lrrk2-related parkinson disease 9.6 AHI1 CC2D2A CEP290 NPHP1 TMEM67 TTC21B
49 juvenile ossifying fibroma 9.5 AHI1 CC2D2A CEP290 MKS1 TMEM216 TMEM67
50 cerebral atherosclerosis 9.5 CEP164 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

Symptoms by clinical synopsis from OMIM:

266900

Clinical features from OMIM:

266900

Human phenotypes related to Senior-Loken Syndrome-1:

56 32 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Occasional (29-5%) HP:0001251
2 hypertension 56 32 Very frequent (99-80%) HP:0000822
3 cataract 56 32 Occasional (29-5%) HP:0000518
4 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
5 visual impairment 56 32 Very frequent (99-80%) HP:0000505
6 short stature 56 32 Very frequent (99-80%) HP:0004322
7 abnormality of retinal pigmentation 56 32 Very frequent (99-80%) HP:0007703
8 cone-shaped epiphysis 56 32 Occasional (29-5%) HP:0010579
9 progressive visual loss 56 32 Frequent (79-30%) HP:0000529
10 congenital hepatic fibrosis 56 32 Occasional (29-5%) HP:0002612
11 abnormality of bone mineral density 56 32 Occasional (29-5%) HP:0004348
12 nephronophthisis 56 32 Frequent (79-30%) HP:0000090
13 retinal dystrophy 56 32 Very frequent (99-80%) HP:0000556
14 stage 5 chronic kidney disease 56 32 Very frequent (99-80%) HP:0003774
15 premature ovarian failure 56 32 Frequent (79-30%) HP:0008209
16 polyuria 32 HP:0000103
17 polydipsia 32 HP:0001959
18 anemia 32 HP:0001903
19 tapetoretinal degeneration 32 HP:0000547
20 chronic kidney disease 56 Very frequent (99-80%)

UMLS symptoms related to Senior-Loken Syndrome-1:


polyuria, polydipsia

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.3 AHI1 CC2D2A CEP290 IFT140 INVS MKS1
2 cardiovascular system MP:0005385 10.13 INVS MKS1 NPHP3 NPHP4 RPGR TMEM67
3 craniofacial MP:0005382 10.09 TMEM67 TTC21B WDR19 CC2D2A CEP290 IFT140
4 mortality/aging MP:0010768 10.07 AHI1 CC2D2A CEP164 CEP290 IFT140 INVS
5 embryo MP:0005380 10.02 NPHP3 TMEM67 TRAF3IP1 TTC21B WDR19 CC2D2A
6 nervous system MP:0003631 9.97 AHI1 CC2D2A CEP290 IFT140 MKS1 NPHP3
7 digestive/alimentary MP:0005381 9.95 CC2D2A IFT140 INVS MKS1 SDCCAG8 TMEM67
8 limbs/digits/tail MP:0005371 9.92 CC2D2A IFT140 MKS1 SDCCAG8 TMEM67 TRAF3IP1
9 renal/urinary system MP:0005367 9.73 AHI1 CC2D2A CEP290 IFT140 INVS MKS1
10 vision/eye MP:0005391 9.36 IFT140 MKS1 NPHP1 NPHP4 RPGR SDCCAG8

Drugs & Therapeutics for Senior-Loken Syndrome-1

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts

Interventional clinical trials:


id Name Status NCT ID Phase
1 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224

Search NIH Clinical Center for Senior-Loken Syndrome-1

Genetic Tests for Senior-Loken Syndrome-1

Genetic tests related to Senior-Loken Syndrome-1:

id Genetic test Affiliating Genes
1 Senior-Loken Syndrome 1 29 24 NPHP1
2 Renal Dysplasia and Retinal Aplasia 29
3 Senior-Loken Syndrome 24 SDCCAG8

Anatomical Context for Senior-Loken Syndrome-1

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

39
Kidney, Eye, Bone

Publications for Senior-Loken Syndrome-1

Variations for Senior-Loken Syndrome-1

ClinVar genetic disease variations for Senior-Loken Syndrome-1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NPHP1 NPHP1, DEL deletion Pathogenic

Expression for Senior-Loken Syndrome-1

Search GEO for disease gene expression data for Senior-Loken Syndrome-1.

Pathways for Senior-Loken Syndrome-1

GO Terms for Senior-Loken Syndrome-1

Cellular components related to Senior-Loken Syndrome-1 according to GeneCards Suite gene sharing:

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 ciliary basal body GO:0036064 9.98 AHI1 CEP290 IFT140 MKS1 NPHP4 RPGR
2 centriole GO:0005814 9.93 AHI1 CEP164 CEP290 IQCB1 MKS1 SDCCAG8
3 photoreceptor connecting cilium GO:0032391 9.88 CEP290 IFT140 IQCB1 NPHP1 NPHP4 WDR19
4 cell-cell junction GO:0005911 9.87 AHI1 NPHP1 NPHP4 SDCCAG8
5 photoreceptor outer segment GO:0001750 9.84 IFT140 IQCB1 RPGR WDR19
6 cell projection GO:0042995 9.83 AHI1 CC2D2A CEP290 IFT140 INVS MKS1
7 ciliary tip GO:0097542 9.81 IFT140 TRAF3IP1 TTC21B WDR19
8 MKS complex GO:0036038 9.8 AHI1 CC2D2A CEP290 MKS1 TMEM216 TMEM67
9 ciliary transition zone GO:0035869 9.8 CC2D2A CEP290 MKS1 NPHP4 TMEM216 TMEM67
10 non-motile cilium GO:0097730 9.78 AHI1 IFT140 NPHP4 WDR19
11 ciliary base GO:0097546 9.73 NPHP3 NPHP4 TRAF3IP1
12 intraciliary transport particle A GO:0030991 9.67 IFT140 TTC21B WDR19
13 centriolar satellite GO:0034451 9.58 CEP290 SDCCAG8
14 cilium GO:0005929 9.5 AHI1 CC2D2A CEP290 IFT140 INVS MKS1
15 cytoplasm GO:0005737 10.45 AHI1 CC2D2A CEP164 CEP290 IFT140 INVS
16 cytosol GO:0005829 10.35 AHI1 CC2D2A CEP164 CEP290 IQCB1 MKS1
17 centrosome GO:0005813 10.11 AHI1 CEP164 CEP290 IFT140 IQCB1 MKS1
18 cytoskeleton GO:0005856 10.09 AHI1 CC2D2A CEP164 CEP290 IFT140 INVS
19 microtubule organizing center GO:0005815 10.02 CEP290 IFT140 IQCB1 MKS1 NPHP4 RPGR

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

(show all 26)
id Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.97 AHI1 CC2D2A CEP164 CEP290 IFT140 IQCB1
2 G2/M transition of mitotic cell cycle GO:0000086 9.8 CEP164 CEP290 SDCCAG8
3 smoothened signaling pathway GO:0007224 9.78 CC2D2A TTC21B WDR19
4 determination of left/right symmetry GO:0007368 9.78 CC2D2A IFT140 MKS1 NPHP3
5 retina development in camera-type eye GO:0060041 9.77 IFT140 NPHP1 NPHP4
6 embryonic digit morphogenesis GO:0042733 9.77 IFT140 MKS1 TRAF3IP1
7 cell projection organization GO:0030030 9.77 AHI1 CC2D2A CEP164 CEP290 IFT140 IQCB1
8 photoreceptor cell maintenance GO:0045494 9.72 IQCB1 NPHP3 NPHP4
9 regulation of smoothened signaling pathway GO:0008589 9.69 IFT140 MKS1 TTC21B
10 intraciliary transport GO:0042073 9.67 IFT140 RPGR TRAF3IP1
11 embryonic camera-type eye development GO:0031076 9.63 IFT140 TRAF3IP1 WDR19
12 motile cilium assembly GO:0044458 9.62 CC2D2A MKS1
13 hindbrain development GO:0030902 9.62 AHI1 CEP290
14 non-motile cilium assembly GO:1905515 9.62 CC2D2A IFT140 MKS1 NPHP3
15 protein localization to cilium GO:0061512 9.61 IFT140 TTC21B
16 intraciliary retrograde transport GO:0035721 9.61 IFT140 TTC21B WDR19
17 neural tube patterning GO:0021532 9.58 IFT140 TRAF3IP1
18 maintenance of animal organ identity GO:0048496 9.58 IQCB1 NPHP3
19 embryonic brain development GO:1990403 9.58 CC2D2A IFT140 MKS1
20 visual behavior GO:0007632 9.57 NPHP1 NPHP4
21 morphogenesis of a polarized epithelium GO:0001738 9.56 AHI1 TRAF3IP1
22 intraciliary transport involved in cilium assembly GO:0035735 9.56 IFT140 TRAF3IP1 TTC21B WDR19
23 positive regulation of bicellular tight junction assembly GO:1903348 9.54 NPHP1 NPHP4
24 photoreceptor cell outer segment organization GO:0035845 9.54 AHI1 IFT140 NPHP4
25 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.52 MKS1 NPHP3
26 ciliary basal body docking GO:0097711 9.36 AHI1 CC2D2A CEP164 CEP290 IQCB1 MKS1

Sources for Senior-Loken Syndrome-1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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