SLSN1
MCID: SNR003
MIFTS: 55

Senior-Loken Syndrome 1 (SLSN1)

Categories: Eye diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Senior-Loken Syndrome 1

MalaCards integrated aliases for Senior-Loken Syndrome 1:

Name: Senior-Loken Syndrome 1 58 76 30 6
Senior-Loken Syndrome 58 12 54 26 60 38 15 41
Renal Dysplasia and Retinal Aplasia 58 26 76 30 6 74
Renal-Retinal Syndrome 58 12 54 26
Juvenile Nephronophthisis with Leber Amaurosis 58 54 76
Loken-Senior Syndrome 58 54 26
Senior-Loken Syndrome-1 58 13
Senior-Løken Syndrome 77 26
Slsn1 58 76
Renal Dysplasia-Retinal Aplasia Syndrome 60
Nephronophthisis with Retinal Dystrophy 60
Renal Dysplasia Retinal Aplasia 54
Loken Senior Syndrome 12
Senior Loken Syndrome 54
Slsn 60

Characteristics:

Orphanet epidemiological data:

60
senior-loken syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

33
senior-loken syndrome 1:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050576
OMIM 58 266900
KEGG 38 H00538
ICD10 34 Q61.5
MESH via Orphanet 46 C537580
ICD10 via Orphanet 35 Q61.5
UMLS via Orphanet 75 C0403553
Orphanet 60 ORPHA3156
UMLS 74 C0403553

Summaries for Senior-Loken Syndrome 1

NIH Rare Diseases : 54 Senior Loken syndrome (SLS) is a rare syndrome that mainly affects the kidneys and eyes. SLS causes a cystic kidney disease called nephronophthisis, which usually begins in early childhood. The kidneys develop cysts, inflammation, and scarring, which progressively impair kidney function. Symptoms of nephronophthisis may include increased production of urine, excessive thirst, weakness, and severe fatigue. Nephronophthisis typically leads to end-stage kidney disease by adolescence. SLS affects the eyes by causing varying degrees of retinal dystrophy, which is progressive wasting of the retina (the part of the eye that senses light and sends images to the brain). Some children with SLS have a severe type of retinal dystrophy at birth called Leber congenital amaurosis (LCA). Symptoms of LCA include severe farsightedness, light sensitivity (photophobia), and nystagmus. Other children with SLS do not have LCA but later develop symptoms of a retinal dystrophy called retinitis pigmentosa (RP). Symptoms of RP range in age of onset and severity, and may include night blindness, progressive loss of peripheral vision, and eventual loss of central vision, leading to blindness. In rare cases, additional symptoms such as liver fibrosis or skeletal abnormalities have been reported. SLS may be caused by mutations in any of several genes, and inheritance is autosomal recessive. The syndrome can be diagnosed based on symptoms, kidney and eye evaluations, and genetic testing. Treatment during earlier stages of kidney disease in children includes maintaining a healthy balance of fluid and electrolytes. End-stage kidney disease requires dialysis, or kidney transplantation. After transplantation, kidney damage does not occur again. End-stage kidney disease can be life-threatening if not treated. There is currently no treatment to prevent or stop the progression of vision loss due to retinal dystrophy, but various low-vision aids may be helpful for those who have remaining vision.

MalaCards based summary : Senior-Loken Syndrome 1, also known as senior-loken syndrome, is related to senior-loken syndrome 3 and joubert syndrome with oculorenal anomalies, and has symptoms including polydipsia and polyuria. 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 eye, kidney and brain, and related phenotypes are hypertension and global developmental delay

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.

Genetics Home Reference : 26 Senior-Løken 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.

OMIM : 58 Senior-Loken syndrome is an autosomal recessive disease with the main features of nephronophthisis (NPHP; see 256100) and Leber congenital amaurosis (see 204000). Mutations in some of the same genes that cause nephronophthisis (see 256100) cause Senior-Loken syndrome. (266900)

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Senior–Løken syndrome is a congenital eye disorder, first characterized in 1961. It is a rare,... more...

Related Diseases for Senior-Loken Syndrome 1

Diseases in the Senior-Loken Syndrome 1 family:

Senior-Loken Syndrome 3 Senior-Loken Syndrome 4
Senior-Loken Syndrome 5 Senior-Loken Syndrome 6
Senior-Loken Syndrome 7 Senior-Loken Syndrome 8
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 71)
# Related Disease Score Top Affiliating Genes
1 senior-loken syndrome 3 34.4 NPHP1 SLSN3
2 joubert syndrome with oculorenal anomalies 32.4 CC2D2A CEP290 TMEM216
3 nephronophthisis 1 31.3 AHI1 INVS NPHP1 NPHP3 NPHP4
4 fundus dystrophy 29.2 AHI1 CC2D2A CEP290 IQCB1 NPHP1 RPGR
5 leber congenital amaurosis 29.0 AHI1 CEP164 CEP290 IQCB1 NPHP1 NPHP3
6 retinitis pigmentosa 28.1 AHI1 CC2D2A CEP290 INVS IQCB1 NPHP1
7 nephronophthisis 28.1 AHI1 CC2D2A CEP164 CEP290 INVS IQCB1
8 joubert syndrome 1 27.0 AHI1 CC2D2A CEP164 CEP290 INVS IQCB1
9 senior-loken syndrome 5 12.8
10 senior-loken syndrome 4 12.8
11 senior-loken syndrome 6 12.8
12 senior-loken syndrome 7 12.8
13 senior-loken syndrome 9 12.8
14 senior-loken syndrome 8 12.8
15 coats disease 10.4
16 joubert syndrome 17 10.4 CEP290 NPHP1
17 leber congenital amaurosis 10 10.3 CEP290 IQCB1
18 short-rib thoracic dysplasia 12 10.3 TTC21B WDR19
19 nephronophthisis 13 10.3 INVS NPHP1 WDR19
20 nephronophthisis 7 10.3 INVS NPHP1 WDR19
21 meckel syndrome, type 4 10.3 CEP290 MKS1
22 meckel syndrome, type 7 10.3 MKS1 NPHP3
23 leber congenital amaurosis 4 10.3
24 cataract 10.3
25 microcephaly 10.3
26 acute pancreatitis 10.3
27 retinitis 10.3
28 pancreatitis 10.3
29 retinal degeneration 10.3
30 nephronophthisis 4 10.3 NPHP1 NPHP4
31 cogan syndrome 10.3 NPHP1 NPHP3 NPHP4
32 renal-hepatic-pancreatic dysplasia 10.3 INVS IQCB1 NPHP3
33 renal dysplasia 10.2 CEP290 NPHP4 SDCCAG8
34 visceral heterotaxy 10.2 INVS NPHP1 NPHP3
35 nephronophthisis 15 10.2 CEP164 INVS
36 nephronophthisis 3 10.2 NPHP1 NPHP3
37 late-onset nephronophthisis 10.2 NPHP3 XPNPEP3
38 nephronophthisis-like nephropathy 1 10.2 NPHP1 XPNPEP3
39 nephronophthisis 16 10.2 CEP290 IQCB1 NPHP1 SDCCAG8
40 joubert syndrome 14 10.2 NPHP4 TMEM216
41 nephronophthisis 19 10.2 NPHP1 NPHP4 TMEM67
42 cranioectodermal dysplasia 1 10.2 TRAF3IP1 TTC21B WDR19
43 orofaciodigital syndrome i 10.1 CEP290 RPGR
44 simpson-golabi-behmel syndrome, type 2 10.1 CEP290 RPGR
45 short-rib thoracic dysplasia 1 with or without polydactyly 10.1 TRAF3IP1 TTC21B WDR19
46 retinal aplasia 10.1 CEP290 IQCB1 NPHP1 NPHP4 SDCCAG8
47 infantile nephronophthisis 10.1 INVS NPHP3 NPHP4 TTC21B
48 joubert syndrome 2 10.1 NPHP1 TMEM216 TMEM67
49 nephronophthisis 18 10.0 INVS IQCB1 NPHP1 NPHP3 NPHP4
50 joubert syndrome 3 10.0 AHI1 NPHP1

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

Human phenotypes related to Senior-Loken Syndrome 1:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 60 33 hallmark (90%) Very frequent (99-80%) HP:0000822
2 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
3 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
4 abnormality of retinal pigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007703
5 retinal dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000556
6 stage 5 chronic kidney disease 60 33 hallmark (90%) Very frequent (99-80%) HP:0003774
7 progressive visual loss 60 33 frequent (33%) Frequent (79-30%) HP:0000529
8 premature ovarian insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0008209
9 nephronophthisis 60 33 frequent (33%) Frequent (79-30%) HP:0000090
10 ataxia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001251
11 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
12 cone-shaped epiphysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0010579
13 congenital hepatic fibrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002612
14 abnormality of bone mineral density 60 33 occasional (7.5%) Occasional (29-5%) HP:0004348
15 visual impairment 60 Very frequent (99-80%)
16 polydipsia 33 HP:0001959
17 anemia 33 HP:0001903
18 rod-cone dystrophy 33 HP:0000510
19 chronic kidney disease 60 Very frequent (99-80%)
20 polyuria 33 HP:0000103

Symptoms via clinical synopsis from OMIM:

58
Metabolic Features:
polydipsia
polyuria

Head And Neck Eyes:
tapetoretinal degeneration
flat electroretinogram (erg)

Hematology:
anemia

Genitourinary Kidneys:
renal failure
end stage renal disease
juvenile nephronophthisis

Clinical features from OMIM:

266900

UMLS symptoms related to Senior-Loken Syndrome 1:


polydipsia, polyuria

MGI Mouse Phenotypes related to Senior-Loken Syndrome 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 AHI1 CC2D2A CEP290 INVS MKS1 NPHP1
2 craniofacial MP:0005382 10.01 CC2D2A CEP290 MKS1 NPHP3 SDCCAG8 TMEM67
3 mortality/aging MP:0010768 10 AHI1 CC2D2A CEP164 CEP290 INVS MKS1
4 embryo MP:0005380 9.97 CC2D2A INVS MKS1 NPHP3 TMEM67 TRAF3IP1
5 nervous system MP:0003631 9.97 AHI1 CC2D2A CEP290 MKS1 NPHP1 NPHP3
6 limbs/digits/tail MP:0005371 9.87 CC2D2A MKS1 SDCCAG8 TMEM67 TRAF3IP1 TTC21B
7 renal/urinary system MP:0005367 9.7 AHI1 CC2D2A CEP290 INVS MKS1 NPHP1
8 vision/eye MP:0005391 9.32 AHI1 CC2D2A CEP290 MKS1 NPHP1 NPHP4

Drugs & Therapeutics for Senior-Loken Syndrome 1

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


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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Investigations Into Ciliopathies 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:

# Genetic test Affiliating Genes
1 Senior-Loken Syndrome 1 30
2 Renal Dysplasia and Retinal Aplasia 30

Anatomical Context for Senior-Loken Syndrome 1

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

42
Eye, Kidney, Brain, Testes, Retina, Bone

Publications for Senior-Loken Syndrome 1

Articles related to Senior-Loken Syndrome 1:

(show all 35)
# Title Authors Year
1
Senior-Løken syndrome with IQCB1 mutation in Taiwan. ( 30309488 )
2018
2
Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome. ( 30425282 )
2018
3
Ciliopathy: Senior-Løken Syndrome. ( 30578507 )
2018
4
Senior Loken Syndrome. ( 28050464 )
2016
5
Fundus Examination Pointing to the Diagnosis of Senior-Loken Syndrome. ( 27548298 )
2016
6
Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome. ( 25987160 )
2015
7
Senior- loken syndrome - a ciliopathy. ( 25584255 )
2014
8
Acute pancreatitis: a rare complication in a patient with senior loken syndrome. ( 24702534 )
2014
9
Senior-loken syndrome with rare manifestations: a case report. ( 25610265 )
2013
10
WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. ( 23683095 )
2013
11
The Senior-Loken syndrome: Two cases from the State of Qatar. ( 23205360 )
2012
12
Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. ( 21220633 )
2011
13
Senior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian family. ( 25984213 )
2011
14
Senior-Loken syndrome in an Iranian family. ( 20587883 )
2010
15
Autofluorescence and High-Resolution OCT Findings Revealed Ciliopathy in Senior-Loken Syndrome. ( 20337316 )
2010
16
Senior-Loken syndrome in a Saudi child. ( 18445908 )
2008
17
Senior-loken syndrome complicated with severe coats disease-like exudative retinopathy. ( 25390787 )
2007
18
Senior-Loken syndrome. ( 17324998 )
2007
19
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome. ( 17617513 )
2007
20
Twins with senior-Loken syndrome. ( 17127790 )
2006
21
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior- Loken syndrome and interacts with RPGR and calmodulin. ( 15723066 )
2005
22
Cataract surgery in Senior-Loken syndrome is beneficial despite severe retinopathy. ( 12439678 )
2002
23
A Japanese child with Senior-Loken syndrome. ( 11754908 )
2001
24
Senior-Loken syndrome associated with mental retardation and microcephaly. ( 11380932 )
2001
25
Late-onset renal failure in Senior-Loken syndrome. ( 11096053 )
2000
26
Senior-Loken syndrome with unusual manifestations. ( 11229290 )
1998
27
Senior-Loken syndrome. ( 11229197 )
1997
28
Senior-Loken syndrome: revisited. ( 8008515 )
1994
29
Senior-Loken syndrome. Case reports of two siblings and association with sensorineural deafness. ( 1540564 )
1992
30
Senior-Loken syndrome (nephronophthisis and pigmentary retinopathy) associated to liver fibrosis: a family study. ( 2191234 )
1990
31
Senior-Loken syndrome: ultrastructural features of heterozygous state associated with IgM nephropathy. ( 2762350 )
1989
32
Hereditary renal and retinal dysplasia--the Senior-Loken syndrome. ( 3445397 )
1987
33
Senior-Loken syndrome (familial renal-retinal dystrophy) and Coats' disease. ( 4073180 )
1985
34
Senior-Loken syndrome. ( 618044 )
1977
35
Senior-Loken syndrome (nephronophthisis and tapeto-retinal degeneration): a study of 8 cases from 5 families. ( 1248184 )
1976

Variations for Senior-Loken Syndrome 1

ClinVar genetic disease variations for Senior-Loken Syndrome 1:

6 (show top 50) (show all 541)
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP290 NM_025114.3(CEP290): c.4250A> G (p.Gln1417Arg) single nucleotide variant Uncertain significance rs201504946 GRCh37 Chromosome 12, 88480220: 88480220
2 CEP290 NM_025114.3(CEP290): c.4250A> G (p.Gln1417Arg) single nucleotide variant Uncertain significance rs201504946 GRCh38 Chromosome 12, 88086443: 88086443
3 IQCB1 NM_001023570.3(IQCB1): c.1178T> A (p.Ile393Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs1141528 GRCh37 Chromosome 3, 121507231: 121507231
4 IQCB1 NM_001023570.3(IQCB1): c.1178T> A (p.Ile393Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs1141528 GRCh38 Chromosome 3, 121788384: 121788384
5 NPHP1 NM_000272.3(NPHP1): c.232T> C (p.Tyr78His) single nucleotide variant Conflicting interpretations of pathogenicity rs140446520 GRCh37 Chromosome 2, 110936097: 110936097
6 NPHP1 NM_000272.3(NPHP1): c.232T> C (p.Tyr78His) single nucleotide variant Conflicting interpretations of pathogenicity rs140446520 GRCh38 Chromosome 2, 110178520: 110178520
7 CEP290 NM_025114.3(CEP290): c.6522+12dupT duplication Benign rs11405846 GRCh37 Chromosome 12, 88454595: 88454595
8 CEP290 NM_025114.3(CEP290): c.6522+12dupT duplication Benign rs11405846 GRCh38 Chromosome 12, 88060818: 88060818
9 CEP290 NM_025114.3(CEP290): c.5055G> A (p.Ala1685=) single nucleotide variant Uncertain significance rs73192874 GRCh37 Chromosome 12, 88474130: 88474130
10 CEP290 NM_025114.3(CEP290): c.5055G> A (p.Ala1685=) single nucleotide variant Uncertain significance rs73192874 GRCh38 Chromosome 12, 88080353: 88080353
11 CEP290 NM_025114.3(CEP290): c.853-12_853-11insG insertion Benign rs71082425 GRCh37 Chromosome 12, 88522823: 88522824
12 CEP290 NM_025114.3(CEP290): c.853-12_853-11insG insertion Benign rs71082425 GRCh38 Chromosome 12, 88129046: 88129047
13 NPHP4 NM_015102.4(NPHP4): c.1442-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs146078470 GRCh38 Chromosome 1, 5909220: 5909220
14 NPHP4 NM_015102.4(NPHP4): c.1442-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs146078470 GRCh37 Chromosome 1, 5969280: 5969280
15 NPHP4 NM_015102.4(NPHP4): c.2868C> T (p.Ala956=) single nucleotide variant Benign/Likely benign rs138025088 GRCh38 Chromosome 1, 5875050: 5875050
16 NPHP4 NM_015102.4(NPHP4): c.2868C> T (p.Ala956=) single nucleotide variant Benign/Likely benign rs138025088 GRCh37 Chromosome 1, 5935110: 5935110
17 SDCCAG8 NM_006642.4(SDCCAG8): c.267T> C (p.Ser89=) single nucleotide variant Conflicting interpretations of pathogenicity rs148818431 GRCh37 Chromosome 1, 243434326: 243434326
18 SDCCAG8 NM_006642.4(SDCCAG8): c.267T> C (p.Ser89=) single nucleotide variant Conflicting interpretations of pathogenicity rs148818431 GRCh38 Chromosome 1, 243271024: 243271024
19 NPHP4 NM_015102.4(NPHP4): c.4075C> T (p.Arg1359Trp) single nucleotide variant Uncertain significance rs369162678 GRCh38 Chromosome 1, 5863955: 5863955
20 NPHP4 NM_015102.4(NPHP4): c.4075C> T (p.Arg1359Trp) single nucleotide variant Uncertain significance rs369162678 GRCh37 Chromosome 1, 5924015: 5924015
21 NPHP1 NM_000272.3(NPHP1): c.1035A> G (p.Gln345=) single nucleotide variant Uncertain significance rs371112962 GRCh37 Chromosome 2, 110919267: 110919267
22 NPHP1 NM_000272.3(NPHP1): c.1035A> G (p.Gln345=) single nucleotide variant Uncertain significance rs371112962 GRCh38 Chromosome 2, 110161690: 110161690
23 NPHP4 NM_015102.4(NPHP4): c.1632C> T (p.Ala544=) single nucleotide variant Uncertain significance rs201903713 GRCh37 Chromosome 1, 5965823: 5965823
24 NPHP4 NM_015102.4(NPHP4): c.1632C> T (p.Ala544=) single nucleotide variant Uncertain significance rs201903713 GRCh38 Chromosome 1, 5905763: 5905763
25 NPHP4 NM_015102.4(NPHP4): c.1966G> A (p.Asp656Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs191602135 GRCh37 Chromosome 1, 5964854: 5964854
26 NPHP4 NM_015102.4(NPHP4): c.1966G> A (p.Asp656Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs191602135 GRCh38 Chromosome 1, 5904794: 5904794
27 NPHP4 NM_015102.4(NPHP4): c.2257G> A (p.Asp753Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs148424288 GRCh37 Chromosome 1, 5950975: 5950975
28 NPHP4 NM_015102.4(NPHP4): c.2257G> A (p.Asp753Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs148424288 GRCh38 Chromosome 1, 5890915: 5890915
29 NPHP4 NM_015102.4(NPHP4): c.2965G> A (p.Glu989Lys) single nucleotide variant Uncertain significance rs116606479 GRCh37 Chromosome 1, 5935013: 5935013
30 NPHP4 NM_015102.4(NPHP4): c.2965G> A (p.Glu989Lys) single nucleotide variant Uncertain significance rs116606479 GRCh38 Chromosome 1, 5874953: 5874953
31 CEP290 NM_025114.3(CEP290): c.3654T> C (p.Leu1218=) single nucleotide variant Conflicting interpretations of pathogenicity rs201838492 GRCh37 Chromosome 12, 88483184: 88483184
32 CEP290 NM_025114.3(CEP290): c.3654T> C (p.Leu1218=) single nucleotide variant Conflicting interpretations of pathogenicity rs201838492 GRCh38 Chromosome 12, 88089407: 88089407
33 CEP290 NM_025114.3(CEP290): c.5284C> T (p.Arg1762Cys) single nucleotide variant Uncertain significance rs373307908 GRCh37 Chromosome 12, 88472949: 88472949
34 CEP290 NM_025114.3(CEP290): c.5284C> T (p.Arg1762Cys) single nucleotide variant Uncertain significance rs373307908 GRCh38 Chromosome 12, 88079172: 88079172
35 CEP290 NM_025114.3(CEP290): c.5322C> T (p.Leu1774=) single nucleotide variant Conflicting interpretations of pathogenicity rs117370446 GRCh37 Chromosome 12, 88472911: 88472911
36 CEP290 NM_025114.3(CEP290): c.5322C> T (p.Leu1774=) single nucleotide variant Conflicting interpretations of pathogenicity rs117370446 GRCh38 Chromosome 12, 88079134: 88079134
37 NPHP1 NM_000272.3(NPHP1): c.644_646dupAAG (p.Glu215_Gly216insGlu) duplication Uncertain significance rs777677768 GRCh37 Chromosome 2, 110922711: 110922713
38 NPHP1 NM_000272.3(NPHP1): c.644_646dupAAG (p.Glu215_Gly216insGlu) duplication Uncertain significance rs777677768 GRCh38 Chromosome 2, 110165134: 110165136
39 IQCB1 NM_001023570.3(IQCB1): c.574C> T (p.Leu192=) single nucleotide variant Benign rs4543051 GRCh37 Chromosome 3, 121526204: 121526204
40 IQCB1 NM_001023570.3(IQCB1): c.574C> T (p.Leu192=) single nucleotide variant Benign rs4543051 GRCh38 Chromosome 3, 121807357: 121807357
41 NPHP1 NM_000272.3(NPHP1): c.830G> A (p.Arg277Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143174377 GRCh37 Chromosome 2, 110922206: 110922206
42 NPHP1 NM_000272.3(NPHP1): c.830G> A (p.Arg277Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143174377 GRCh38 Chromosome 2, 110164629: 110164629
43 NPHP4 NM_015102.4(NPHP4): c.4114C> T (p.Leu1372=) single nucleotide variant Conflicting interpretations of pathogenicity rs374146357 GRCh37 Chromosome 1, 5923976: 5923976
44 NPHP4 NM_015102.4(NPHP4): c.4114C> T (p.Leu1372=) single nucleotide variant Conflicting interpretations of pathogenicity rs374146357 GRCh38 Chromosome 1, 5863916: 5863916
45 NPHP4 NM_015102.4(NPHP4): c.1490C> G (p.Pro497Arg) single nucleotide variant Benign/Likely benign rs375051705 GRCh37 Chromosome 1, 5969225: 5969225
46 NPHP4 NM_015102.4(NPHP4): c.1490C> G (p.Pro497Arg) single nucleotide variant Benign/Likely benign rs375051705 GRCh38 Chromosome 1, 5909165: 5909165
47 IQCB1 NM_001023570.3(IQCB1): c.1549A> T (p.Asn517Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs139468837 GRCh38 Chromosome 3, 121772575: 121772575
48 IQCB1 NM_001023570.3(IQCB1): c.1549A> T (p.Asn517Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs139468837 GRCh37 Chromosome 3, 121491422: 121491422
49 CEP290 NM_025114.3(CEP290): c.4754A> G (p.His1585Arg) single nucleotide variant Uncertain significance rs199826787 GRCh37 Chromosome 12, 88477682: 88477682
50 CEP290 NM_025114.3(CEP290): c.4754A> G (p.His1585Arg) single nucleotide variant Uncertain significance rs199826787 GRCh38 Chromosome 12, 88083905: 88083905

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)
# Name GO ID Score Top Affiliating Genes
1 microtubule organizing center GO:0005815 9.93 CEP290 IQCB1 MKS1 NPHP4 RPGR
2 centriole GO:0005814 9.93 AHI1 CEP164 CEP290 IQCB1 MKS1 SDCCAG8
3 ciliary basal body GO:0036064 9.91 AHI1 CEP290 MKS1 NPHP4 RPGR TRAF3IP1
4 cytoskeleton GO:0005856 9.86 AHI1 CC2D2A CEP164 CEP290 INVS IQCB1
5 cell-cell junction GO:0005911 9.83 AHI1 NPHP1 NPHP4 SDCCAG8
6 photoreceptor connecting cilium GO:0032391 9.8 CEP290 IQCB1 NPHP1 NPHP4 WDR19
7 MKS complex GO:0036038 9.8 AHI1 CC2D2A CEP290 MKS1 TMEM216 TMEM67
8 ciliary transition zone GO:0035869 9.8 CC2D2A CEP290 MKS1 NPHP4 TMEM216 TMEM67
9 motile cilium GO:0031514 9.74 NPHP1 RPGR WDR19
10 photoreceptor outer segment GO:0001750 9.73 IQCB1 RPGR WDR19
11 ciliary tip GO:0097542 9.69 TRAF3IP1 TTC21B WDR19
12 non-motile cilium GO:0097730 9.67 AHI1 NPHP4 WDR19
13 centriolar satellite GO:0034451 9.58 CEP290 SDCCAG8
14 intraciliary transport particle A GO:0030991 9.55 TTC21B WDR19
15 cilium GO:0005929 9.47 AHI1 CC2D2A CEP290 INVS MKS1 NPHP1
16 cytoplasm GO:0005737 10.41 AHI1 CC2D2A CEP164 CEP290 INVS IQCB1
17 cytosol GO:0005829 10.32 AHI1 CC2D2A CEP164 CEP290 IQCB1 MKS1
18 centrosome GO:0005813 10.07 AHI1 CEP164 CEP290 IQCB1 MKS1 NPHP4
19 cell projection GO:0042995 10 AHI1 CC2D2A CEP290 INVS MKS1 NPHP1

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.93 AHI1 CC2D2A CEP164 CEP290 IQCB1 MKS1
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.78 INVS NPHP3 NPHP4
3 G2/M transition of mitotic cell cycle GO:0000086 9.77 CEP164 CEP290 SDCCAG8
4 cilium assembly GO:0060271 9.73 AHI1 CC2D2A CEP164 CEP290 IQCB1 MKS1
5 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.72 CEP164 CEP290 SDCCAG8
6 determination of left/right symmetry GO:0007368 9.7 CC2D2A MKS1 NPHP3
7 smoothened signaling pathway GO:0007224 9.69 CC2D2A TTC21B WDR19
8 non-motile cilium assembly GO:1905515 9.65 CC2D2A MKS1 TMEM216
9 motile cilium assembly GO:0044458 9.62 CC2D2A MKS1
10 regulation of smoothened signaling pathway GO:0008589 9.61 MKS1 TTC21B
11 hindbrain development GO:0030902 9.6 AHI1 CEP290
12 intraciliary transport GO:0042073 9.58 RPGR TRAF3IP1
13 embryonic camera-type eye development GO:0031076 9.58 TRAF3IP1 WDR19
14 embryonic brain development GO:1990403 9.57 CC2D2A MKS1
15 intraciliary retrograde transport GO:0035721 9.56 TTC21B WDR19
16 photoreceptor cell outer segment organization GO:0035845 9.54 AHI1 NPHP4
17 intraciliary transport involved in cilium assembly GO:0035735 9.54 TRAF3IP1 TTC21B WDR19
18 photoreceptor cell maintenance GO:0045494 9.5 IQCB1 NPHP3 NPHP4
19 maintenance of animal organ identity GO:0048496 9.49 IQCB1 NPHP3
20 morphogenesis of a polarized epithelium GO:0001738 9.46 AHI1 TRAF3IP1
21 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.43 MKS1 NPHP3
22 visual behavior GO:0007632 9.4 NPHP1 NPHP4
23 ciliary basal body-plasma membrane docking GO:0097711 9.36 AHI1 CC2D2A CEP164 CEP290 IQCB1 MKS1
24 positive regulation of bicellular tight junction assembly GO:1903348 9.26 NPHP1 NPHP4

Molecular functions related to Senior-Loken Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.5 AHI1 CEP164 CEP290 INVS IQCB1 MKS1

Sources for Senior-Loken Syndrome 1

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