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 57 75 29 6
Senior-Loken Syndrome 57 12 53 25 59 37 15 40
Renal Dysplasia and Retinal Aplasia 57 25 75 29 6 73
Renal-Retinal Syndrome 57 12 53 25
Juvenile Nephronophthisis with Leber Amaurosis 57 53 75
Loken-Senior Syndrome 57 53 25
Senior-Loken Syndrome-1 57 13
Slsn1 57 75
Renal Dysplasia-Retinal Aplasia Syndrome 59
Nephronophthisis with Retinal Dystrophy 59
Renal Dysplasia Retinal Aplasia 53
Loken Senior Syndrome 12
Senior Loken Syndrome 53
Senior-Løken Syndrome 25
Seniorl�ken Syndrome 76
Slsn 59

Characteristics:

Orphanet epidemiological data:

59
senior-loken syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

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


Classifications:



External Ids:

OMIM 57 266900
Disease Ontology 12 DOID:0050576
ICD10 33 Q61.5
Orphanet 59 ORPHA3156
MESH via Orphanet 45 C537580
ICD10 via Orphanet 34 Q61.5
UMLS via Orphanet 74 C0403553
MedGen 42 C0403553
KEGG 37 H00538
UMLS 73 C0403553

Summaries for Senior-Loken Syndrome 1

NIH Rare Diseases : 53 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. Affiliated tissues include eye, kidney and liver, and related phenotypes are hypertension and ataxia

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 : 25 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 : 57 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 : 75 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 : 76 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 72)
# Related Disease Score Top Affiliating Genes
1 senior-loken syndrome 3 34.2 NPHP1 SLSN3
2 joubert syndrome with oculorenal anomalies 32.2 CC2D2A CEP290 TMEM216
3 nephronophthisis 1 31.6 AHI1 INVS NPHP1 NPHP3 NPHP4
4 nephronophthisis 29.9 AHI1 CC2D2A CEP164 CEP290 INVS IQCB1
5 leber congenital amaurosis 29.5 AHI1 CEP164 CEP290 IFT140 IQCB1 NPHP1
6 fundus dystrophy 29.5 AHI1 CC2D2A CEP290 IFT140 IQCB1 NPHP1
7 retinitis pigmentosa 28.9 AHI1 CC2D2A CEP290 IFT140 INVS IQCB1
8 joubert syndrome 1 28.2 AHI1 CC2D2A CEP164 CEP290 IFT140 INVS
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 12.7
15 coats disease 10.4
16 leber congenital amaurosis 4 10.3
17 cataract 10.3
18 microcephaly 10.3
19 acute pancreatitis 10.3
20 retinitis 10.3
21 pancreatitis 10.3
22 retinal degeneration 10.3
23 joubert syndrome 17 10.3 CEP290 NPHP1
24 leber congenital amaurosis 10 10.2 CEP290 IQCB1
25 nephronophthisis 13 10.2 INVS NPHP1 WDR19
26 short-rib thoracic dysplasia 12 10.2 TTC21B WDR19
27 nephronophthisis 7 10.2 INVS NPHP1 WDR19
28 late-onset nephronophthisis 10.2 NPHP3 XPNPEP3
29 nephronophthisis-like nephropathy 1 10.2 NPHP1 XPNPEP3
30 meckel syndrome, type 7 10.2 MKS1 NPHP3
31 cogan syndrome 10.2 NPHP1 NPHP3 NPHP4
32 renal-hepatic-pancreatic dysplasia 10.2 INVS IQCB1 NPHP3
33 meckel syndrome, type 4 10.2 CEP290 MKS1
34 visceral heterotaxy 10.2 INVS NPHP1 NPHP3
35 nephronophthisis 4 10.2 NPHP1 NPHP4
36 nephronophthisis 15 10.2 CEP164 INVS
37 nephronophthisis 16 10.2 CEP290 IQCB1 NPHP1 SDCCAG8
38 nephronophthisis 3 10.1 NPHP1 NPHP3
39 orofaciodigital syndrome i 10.1 CEP290 RPGR
40 nephronophthisis 19 10.1 NPHP1 NPHP4 TMEM67
41 joubert syndrome 14 10.1 NPHP4 TMEM216
42 asphyxiating thoracic dystrophy 10.1 IFT140 TTC21B WDR19
43 simpson-golabi-behmel syndrome, type 2 10.1 CEP290 RPGR
44 cleft lip/palate 10.1 IFT140 TTC21B WDR19
45 joubert syndrome 3 10.1 AHI1 NPHP1
46 renal dysplasia 10.1 CEP290 IFT140 NPHP4 SDCCAG8
47 infantile nephronophthisis 10.1 INVS NPHP3 NPHP4 TTC21B
48 retinal aplasia 10.1 CEP290 IQCB1 NPHP1 NPHP4 SDCCAG8
49 nephronophthisis 18 10.1 INVS IQCB1 NPHP1 NPHP3 NPHP4
50 joubert syndrome with ocular anomalies 10.1 AHI1 MKS1

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 via clinical synopsis from OMIM:

57
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

Human phenotypes related to Senior-Loken Syndrome 1:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 hallmark (90%) Very frequent (99-80%) HP:0000822
2 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
3 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
4 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
5 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
6 abnormality of retinal pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007703
7 cone-shaped epiphysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0010579
8 progressive visual loss 59 32 frequent (33%) Frequent (79-30%) HP:0000529
9 premature ovarian insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0008209
10 congenital hepatic fibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002612
11 abnormality of bone mineral density 59 32 occasional (7.5%) Occasional (29-5%) HP:0004348
12 nephronophthisis 59 32 frequent (33%) Frequent (79-30%) HP:0000090
13 retinal dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000556
14 stage 5 chronic kidney disease 59 32 hallmark (90%) Very frequent (99-80%) HP:0003774
15 visual impairment 59 Very frequent (99-80%)
16 polydipsia 32 HP:0001959
17 anemia 32 HP:0001903
18 tapetoretinal degeneration 32 HP:0000547
19 chronic kidney disease 59 Very frequent (99-80%)
20 polyuria 32 HP:0000103

UMLS symptoms related to Senior-Loken Syndrome 1:


polydipsia, polyuria

MGI Mouse Phenotypes related to Senior-Loken Syndrome 1:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.32 AHI1 CC2D2A CEP290 IFT140 INVS MKS1
2 cardiovascular system MP:0005385 10.15 CC2D2A CEP290 IFT140 INVS MKS1 NPHP3
3 craniofacial MP:0005382 10.11 CC2D2A CEP290 IFT140 MKS1 NPHP3 SDCCAG8
4 growth/size/body region MP:0005378 10.11 AHI1 CC2D2A CEP290 IFT140 INVS MKS1
5 embryo MP:0005380 10.06 CC2D2A IFT140 INVS MKS1 NPHP3 TMEM67
6 mortality/aging MP:0010768 10.03 AHI1 CC2D2A CEP164 CEP290 IFT140 INVS
7 nervous system MP:0003631 10 AHI1 CC2D2A CEP290 IFT140 MKS1 NPHP1
8 digestive/alimentary MP:0005381 9.98 CC2D2A IFT140 INVS MKS1 SDCCAG8 TMEM67
9 limbs/digits/tail MP:0005371 9.92 CC2D2A IFT140 MKS1 SDCCAG8 TMEM67 TRAF3IP1
10 renal/urinary system MP:0005367 9.73 AHI1 CC2D2A CEP290 IFT140 INVS MKS1
11 vision/eye MP:0005391 9.36 AHI1 CC2D2A CEP290 IFT140 MKS1 NPHP1

Drugs & Therapeutics for Senior-Loken Syndrome 1

Search Clinical Trials , 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 29 NPHP1
2 Renal Dysplasia and Retinal Aplasia 29

Anatomical Context for Senior-Loken Syndrome 1

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

41
Eye, Kidney, Liver, Brain, Testes, Retina, Bone

Publications for Senior-Loken Syndrome 1

Articles related to Senior-Loken Syndrome 1:

(show all 34)
# 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
Senior Loken Syndrome. ( 28050464 )
2016
4
Fundus Examination Pointing to the Diagnosis of Senior-Loken Syndrome. ( 27548298 )
2016
5
Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome. ( 25987160 )
2015
6
Senior- loken syndrome - a ciliopathy. ( 25584255 )
2014
7
Acute pancreatitis: a rare complication in a patient with senior loken syndrome. ( 24702534 )
2014
8
Senior-loken syndrome with rare manifestations: a case report. ( 25610265 )
2013
9
WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. ( 23683095 )
2013
10
The Senior-Loken syndrome: Two cases from the State of Qatar. ( 23205360 )
2012
11
Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. ( 21220633 )
2011
12
Senior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian family. ( 25984213 )
2011
13
Senior-Loken syndrome in an Iranian family. ( 20587883 )
2010
14
Autofluorescence and High-Resolution OCT Findings Revealed Ciliopathy in Senior-Loken Syndrome. ( 20337316 )
2010
15
Senior-Loken syndrome in a Saudi child. ( 18445908 )
2008
16
Senior-loken syndrome complicated with severe coats disease-like exudative retinopathy. ( 25390787 )
2007
17
Senior-Loken syndrome. ( 17324998 )
2007
18
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome. ( 17617513 )
2007
19
Twins with senior-Loken syndrome. ( 17127790 )
2006
20
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior- Loken syndrome and interacts with RPGR and calmodulin. ( 15723066 )
2005
21
Cataract surgery in Senior-Loken syndrome is beneficial despite severe retinopathy. ( 12439678 )
2002
22
A Japanese child with Senior-Loken syndrome. ( 11754908 )
2001
23
Senior-Loken syndrome associated with mental retardation and microcephaly. ( 11380932 )
2001
24
Late-onset renal failure in Senior-Loken syndrome. ( 11096053 )
2000
25
Senior-Loken syndrome with unusual manifestations. ( 11229290 )
1998
26
Senior-Loken syndrome. ( 11229197 )
1997
27
Senior-Loken syndrome: revisited. ( 8008515 )
1994
28
Senior-Loken syndrome. Case reports of two siblings and association with sensorineural deafness. ( 1540564 )
1992
29
Senior-Loken syndrome (nephronophthisis and pigmentary retinopathy) associated to liver fibrosis: a family study. ( 2191234 )
1990
30
Senior-Loken syndrome: ultrastructural features of heterozygous state associated with IgM nephropathy. ( 2762350 )
1989
31
Hereditary renal and retinal dysplasia--the Senior-Loken syndrome. ( 3445397 )
1987
32
Senior-Loken syndrome (familial renal-retinal dystrophy) and Coats' disease. ( 4073180 )
1985
33
Senior-Loken syndrome. ( 618044 )
1977
34
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 NPHP1 NPHP1, DEL deletion Pathogenic
2 NPHP1 NM_000272.3(NPHP1): c.654G> A (p.Glu218=) single nucleotide variant Benign rs11675767 GRCh37 Chromosome 2, 110922703: 110922703
3 NPHP1 NM_000272.3(NPHP1): c.654G> A (p.Glu218=) single nucleotide variant Benign rs11675767 GRCh38 Chromosome 2, 110165126: 110165126
4 NPHP4 NM_015102.4(NPHP4): c.1441+13A> G single nucleotide variant Benign/Likely benign rs7520105 GRCh37 Chromosome 1, 5987696: 5987696
5 NPHP4 NM_015102.4(NPHP4): c.1441+13A> G single nucleotide variant Benign/Likely benign rs7520105 GRCh38 Chromosome 1, 5927636: 5927636
6 NPHP4 NM_015102.4(NPHP4): c.1611+9C> T single nucleotide variant Benign/Likely benign rs114900019 GRCh37 Chromosome 1, 5967166: 5967166
7 NPHP4 NM_015102.4(NPHP4): c.1611+9C> T single nucleotide variant Benign/Likely benign rs114900019 GRCh38 Chromosome 1, 5907106: 5907106
8 NPHP4 NM_015102.4(NPHP4): c.1926G> A (p.Glu642=) single nucleotide variant Benign/Likely benign rs12120967 GRCh37 Chromosome 1, 5965381: 5965381
9 NPHP4 NM_015102.4(NPHP4): c.1926G> A (p.Glu642=) single nucleotide variant Benign/Likely benign rs12120967 GRCh38 Chromosome 1, 5905321: 5905321
10 NPHP4 NM_015102.4(NPHP4): c.2643G> A (p.Ala881=) single nucleotide variant Benign/Likely benign rs3747990 GRCh37 Chromosome 1, 5937327: 5937327
11 NPHP4 NM_015102.4(NPHP4): c.2643G> A (p.Ala881=) single nucleotide variant Benign/Likely benign rs3747990 GRCh38 Chromosome 1, 5877267: 5877267
12 NPHP4 NM_015102.4(NPHP4): c.2724G> A (p.Ser908=) single nucleotide variant Benign/Likely benign rs114545322 GRCh37 Chromosome 1, 5937246: 5937246
13 NPHP4 NM_015102.4(NPHP4): c.2724G> A (p.Ser908=) single nucleotide variant Benign/Likely benign rs114545322 GRCh38 Chromosome 1, 5877186: 5877186
14 NPHP4 NM_015102.4(NPHP4): c.2802C> T (p.Arg934=) single nucleotide variant Benign rs3747992 GRCh37 Chromosome 1, 5937168: 5937168
15 NPHP4 NM_015102.4(NPHP4): c.2802C> T (p.Arg934=) single nucleotide variant Benign rs3747992 GRCh38 Chromosome 1, 5877108: 5877108
16 NPHP4 NM_015102.4(NPHP4): c.3243G> C (p.Gly1081=) single nucleotide variant Conflicting interpretations of pathogenicity rs41280800 GRCh37 Chromosome 1, 5933384: 5933384
17 NPHP4 NM_015102.4(NPHP4): c.3243G> C (p.Gly1081=) single nucleotide variant Conflicting interpretations of pathogenicity rs41280800 GRCh38 Chromosome 1, 5873324: 5873324
18 NPHP4 NM_015102.4(NPHP4): c.3329C> T (p.Ala1110Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139767853 GRCh37 Chromosome 1, 5927943: 5927943
19 NPHP4 NM_015102.4(NPHP4): c.3329C> T (p.Ala1110Val) single nucleotide variant Conflicting interpretations of pathogenicity rs139767853 GRCh38 Chromosome 1, 5867883: 5867883
20 NPHP4 NM_015102.4(NPHP4): c.3570A> G (p.Glu1190=) single nucleotide variant Benign rs555164 GRCh37 Chromosome 1, 5926507: 5926507
21 NPHP4 NM_015102.4(NPHP4): c.3570A> G (p.Glu1190=) single nucleotide variant Benign rs555164 GRCh38 Chromosome 1, 5866447: 5866447
22 NPHP4 NM_015102.4(NPHP4): c.3876C> T (p.Gly1292=) single nucleotide variant Conflicting interpretations of pathogenicity rs115526767 GRCh37 Chromosome 1, 5924518: 5924518
23 NPHP4 NM_015102.4(NPHP4): c.3876C> T (p.Gly1292=) single nucleotide variant Conflicting interpretations of pathogenicity rs115526767 GRCh38 Chromosome 1, 5864458: 5864458
24 CEP290 NM_025114.3(CEP290): c.2055T> C (p.Ala685=) single nucleotide variant Benign/Likely benign rs45465996 GRCh37 Chromosome 12, 88505633: 88505633
25 CEP290 NM_025114.3(CEP290): c.2055T> C (p.Ala685=) single nucleotide variant Benign/Likely benign rs45465996 GRCh38 Chromosome 12, 88111856: 88111856
26 CEP290 NM_025114.3(CEP290): c.3574-9delT deletion Benign rs10717563 GRCh37 Chromosome 12, 88483273: 88483273
27 CEP290 NM_025114.3(CEP290): c.3574-9delT deletion Benign rs10717563 GRCh38 Chromosome 12, 88089496: 88089496
28 CEP290 NM_025114.3(CEP290): c.4237G> C (p.Asp1413His) single nucleotide variant Conflicting interpretations of pathogenicity rs183655276 GRCh37 Chromosome 12, 88480233: 88480233
29 CEP290 NM_025114.3(CEP290): c.4237G> C (p.Asp1413His) single nucleotide variant Conflicting interpretations of pathogenicity rs183655276 GRCh38 Chromosome 12, 88086456: 88086456
30 CEP290 NM_025114.3(CEP290): c.1991A> G (p.Asp664Gly) single nucleotide variant Benign/Likely benign rs79705698 GRCh37 Chromosome 12, 88508258: 88508258
31 CEP290 NM_025114.3(CEP290): c.1991A> G (p.Asp664Gly) single nucleotide variant Benign/Likely benign rs79705698 GRCh38 Chromosome 12, 88114481: 88114481
32 CEP290 NM_025114.3(CEP290): c.2512A> G (p.Lys838Glu) single nucleotide variant Benign rs11104738 GRCh37 Chromosome 12, 88500847: 88500847
33 CEP290 NM_025114.3(CEP290): c.2512A> G (p.Lys838Glu) single nucleotide variant Benign rs11104738 GRCh38 Chromosome 12, 88107070: 88107070
34 CEP290 NM_025114.3(CEP290): c.251-10A> T single nucleotide variant Benign/Likely benign rs190383141 GRCh37 Chromosome 12, 88532978: 88532978
35 CEP290 NM_025114.3(CEP290): c.251-10A> T single nucleotide variant Benign/Likely benign rs190383141 GRCh38 Chromosome 12, 88139201: 88139201
36 CEP290 NM_025114.3(CEP290): c.2717T> G (p.Leu906Trp) single nucleotide variant Benign/Likely benign rs7970228 GRCh37 Chromosome 12, 88500552: 88500552
37 CEP290 NM_025114.3(CEP290): c.2717T> G (p.Leu906Trp) single nucleotide variant Benign/Likely benign rs7970228 GRCh38 Chromosome 12, 88106775: 88106775
38 CEP290 NM_025114.3(CEP290): c.3710G> A (p.Arg1237His) single nucleotide variant Benign/Likely benign rs7307793 GRCh37 Chromosome 12, 88483128: 88483128
39 CEP290 NM_025114.3(CEP290): c.3710G> A (p.Arg1237His) single nucleotide variant Benign/Likely benign rs7307793 GRCh38 Chromosome 12, 88089351: 88089351
40 CEP290 NM_025114.3(CEP290): c.4119A> G (p.Lys1373=) single nucleotide variant Benign/Likely benign rs117122459 GRCh37 Chromosome 12, 88481632: 88481632
41 CEP290 NM_025114.3(CEP290): c.4119A> G (p.Lys1373=) single nucleotide variant Benign/Likely benign rs117122459 GRCh38 Chromosome 12, 88087855: 88087855
42 CEP290 NM_025114.3(CEP290): c.5237G> A (p.Arg1746Gln) single nucleotide variant Benign/Likely benign rs61941020 GRCh37 Chromosome 12, 88472996: 88472996
43 CEP290 NM_025114.3(CEP290): c.5237G> A (p.Arg1746Gln) single nucleotide variant Benign/Likely benign rs61941020 GRCh38 Chromosome 12, 88079219: 88079219
44 NPHP1 NM_000272.3(NPHP1): c.115C> A (p.Pro39Thr) single nucleotide variant Benign/Likely benign rs33958626 GRCh37 Chromosome 2, 110959026: 110959026
45 NPHP1 NM_000272.3(NPHP1): c.115C> A (p.Pro39Thr) single nucleotide variant Benign/Likely benign rs33958626 GRCh38 Chromosome 2, 110201449: 110201449
46 NPHP1 NM_000272.3(NPHP1): c.14G> T (p.Arg5Leu) single nucleotide variant Benign/Likely benign rs190983114 GRCh37 Chromosome 2, 110962532: 110962532
47 NPHP1 NM_000272.3(NPHP1): c.14G> T (p.Arg5Leu) single nucleotide variant Benign/Likely benign rs190983114 GRCh38 Chromosome 2, 110204955: 110204955
48 NPHP1 NM_000272.3(NPHP1): c.810C> T (p.Cys270=) single nucleotide variant Benign/Likely benign rs73954628 GRCh37 Chromosome 2, 110922226: 110922226
49 NPHP1 NM_000272.3(NPHP1): c.810C> T (p.Cys270=) single nucleotide variant Benign/Likely benign rs73954628 GRCh38 Chromosome 2, 110164649: 110164649
50 CEP290 NM_025114.3(CEP290): c.1624-5T> C single nucleotide variant Conflicting interpretations of pathogenicity rs142742071 GRCh37 Chromosome 12, 88512352: 88512352

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 18)
# 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 9.86 AHI1 NPHP1 NPHP4 SDCCAG8
5 photoreceptor outer segment GO:0001750 9.84 IFT140 IQCB1 RPGR WDR19
6 ciliary tip GO:0097542 9.83 IFT140 TRAF3IP1 TTC21B WDR19
7 cell projection GO:0042995 9.83 AHI1 CC2D2A CEP290 IFT140 INVS MKS1
8 non-motile cilium GO:0097730 9.8 AHI1 IFT140 NPHP4 WDR19
9 MKS complex GO:0036038 9.8 AHI1 CC2D2A CEP290 MKS1 TMEM216 TMEM67
10 ciliary transition zone GO:0035869 9.8 CC2D2A CEP290 MKS1 NPHP4 TMEM216 TMEM67
11 motile cilium GO:0031514 9.74 NPHP1 RPGR WDR19
12 intraciliary transport particle A GO:0030991 9.69 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 10.43 AHI1 CC2D2A CEP164 CEP290 IFT140 INVS
16 centrosome GO:0005813 10.11 AHI1 CEP164 CEP290 IFT140 IQCB1 MKS1
17 cytoskeleton GO:0005856 10.09 AHI1 CC2D2A CEP164 CEP290 IFT140 INVS
18 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 28)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.97 AHI1 CC2D2A CEP164 CEP290 IFT140 IQCB1
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.8 INVS NPHP3 NPHP4
3 G2/M transition of mitotic cell cycle GO:0000086 9.79 CEP164 CEP290 SDCCAG8
4 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.79 CEP164 CEP290 SDCCAG8
5 retina development in camera-type eye GO:0060041 9.78 IFT140 NPHP1 NPHP4
6 determination of left/right symmetry GO:0007368 9.78 CC2D2A IFT140 MKS1 NPHP3
7 smoothened signaling pathway GO:0007224 9.77 CC2D2A TTC21B WDR19
8 embryonic digit morphogenesis GO:0042733 9.77 IFT140 MKS1 TRAF3IP1
9 cilium assembly GO:0060271 9.77 AHI1 CC2D2A CEP164 CEP290 IFT140 IQCB1
10 photoreceptor cell maintenance GO:0045494 9.71 IQCB1 NPHP3 NPHP4
11 regulation of smoothened signaling pathway GO:0008589 9.69 IFT140 MKS1 TTC21B
12 intraciliary transport GO:0042073 9.67 IFT140 RPGR TRAF3IP1
13 protein localization to cilium GO:0061512 9.64 IFT140 TTC21B
14 motile cilium assembly GO:0044458 9.63 CC2D2A MKS1
15 embryonic camera-type eye development GO:0031076 9.63 IFT140 TRAF3IP1 WDR19
16 hindbrain development GO:0030902 9.62 AHI1 CEP290
17 non-motile cilium assembly GO:1905515 9.62 CC2D2A IFT140 MKS1 TMEM216
18 embryonic brain development GO:1990403 9.61 CC2D2A IFT140 MKS1
19 neural tube patterning GO:0021532 9.58 IFT140 TRAF3IP1
20 maintenance of animal organ identity GO:0048496 9.58 IQCB1 NPHP3
21 intraciliary retrograde transport GO:0035721 9.58 IFT140 TTC21B WDR19
22 morphogenesis of a polarized epithelium GO:0001738 9.57 AHI1 TRAF3IP1
23 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.56 MKS1 NPHP3
24 intraciliary transport involved in cilium assembly GO:0035735 9.56 IFT140 TRAF3IP1 TTC21B WDR19
25 visual behavior GO:0007632 9.55 NPHP1 NPHP4
26 photoreceptor cell outer segment organization GO:0035845 9.54 AHI1 IFT140 NPHP4
27 positive regulation of bicellular tight junction assembly GO:1903348 9.52 NPHP1 NPHP4
28 ciliary basal body-plasma membrane 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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