SLSN1
MCID: SNR003
MIFTS: 57

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 56 73 29 6
Senior-Loken Syndrome 56 12 52 25 58 36 15 39
Renal Dysplasia and Retinal Aplasia 56 25 73 29 6 71
Renal-Retinal Syndrome 56 12 52 25
Juvenile Nephronophthisis with Leber Amaurosis 56 52 73
Loken-Senior Syndrome 56 52 25
Senior-Loken Syndrome-1 56 13
Senior-Løken Syndrome 74 25
Slsn1 56 73
Renal Dysplasia-Retinal Aplasia Syndrome 58
Nephronophthisis with Retinal Dystrophy 58
Renal Dysplasia Retinal Aplasia 52
Loken Senior Syndrome 12
Senior Loken Syndrome 52
Slsn 58

Characteristics:

Orphanet epidemiological data:

58
senior-loken syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: any age;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity


HPO:

31
senior-loken syndrome 1:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare eye diseases
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:0050576
OMIM 56 266900
OMIM Phenotypic Series 56 PS266900
KEGG 36 H00538
ICD10 32 Q61.5
MESH via Orphanet 44 C537580
ICD10 via Orphanet 33 Q61.5
UMLS via Orphanet 72 C0403553
Orphanet 58 ORPHA3156
UMLS 71 C0403553

Summaries for Senior-Loken Syndrome 1

NIH Rare Diseases : 52 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 nephronophthisis, 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 kidney, eye and retina, 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 : 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. Nephronophthisis causes fluid-filled cysts to develop in the kidneys beginning in childhood. These cysts impair kidney function, initially causing increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). Nephronophthisis leads to end-stage renal disease (ESRD) later in childhood or in adolescence. ESRD is a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. Leber congenital amaurosis primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. This condition causes vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). Some people with Senior-Løken syndrome develop the signs of Leber congenital amaurosis within the first few years of life, while others do not develop vision problems until later in childhood.

OMIM : 56 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)

KEGG : 36 Senior-Loken syndrome is a rare disorder that combines nephronophthisis and retinitis pigmentosa.

UniProtKB/Swiss-Prot : 73 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 : 74 Senior-Loken 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 143)
# Related Disease Score Top Affiliating Genes
1 senior-loken syndrome 3 35.0 SLSN3 NPHP1
2 nephronophthisis 33.4 WDR19 TRAF3IP1 TMEM67 SLSN3 SDCCAG8 RPGRIP1L
3 nephronophthisis 1 32.9 NPHP4 NPHP3 NPHP1 MKS1 INVS AHI1
4 inherited retinal disorder 32.2 RPGR IQCB1 CEP290 BBS2
5 juvenile nephronophthisis 32.2 WDR19 NPHP4 NPHP3 NPHP1 IQCB1 INVS
6 kidney disease 31.7 TMEM67 NPHP4 NPHP1 IFT88 CEP290
7 retinal degeneration 31.6 TMEM67 SPATA7 RPGRIP1L RPGRIP1 RPGR NPHP4
8 ciliopathy 31.6 WDR19 TMEM67 SDCCAG8 RPGRIP1L NPHP4
9 cystic kidney disease 31.5 TMEM67 RPGRIP1L NPHP4 NPHP3 NPHP1 MKS1
10 yemenite deaf-blind hypopigmentation syndrome 31.5 RPGR CEP290
11 eye disease 31.5 WDR19 TRAF3IP1 SDCCAG8 RPGR NPHP4 NPHP1
12 retinal disease 31.5 RPGRIP1 RPGR CEP290 BBS2
13 fundus dystrophy 31.4 WDR19 TMEM67 SPATA7 SDCCAG8 RPGRIP1L RPGRIP1
14 nephronophthisis 4 31.4 RPGRIP1 NPHP4 NPHP1
15 congenital hepatic fibrosis 31.4 TMEM67 RPGRIP1L AHI1
16 retinitis pigmentosa 31.4 WDR19 TMEM67 SPATA7 SDCCAG8 RPGRIP1L RPGRIP1
17 pathologic nystagmus 31.3 TMEM67 SPATA7 MKS1 CEP290 AHI1
18 bardet-biedl syndrome 30.9 WDR19 TRAF3IP1 TMEM67 SPATA7 SDCCAG8 RPGRIP1L
19 cranioectodermal dysplasia 1 30.9 WDR19 TRAF3IP1 TMEM67 RPGRIP1L RPGR NPHP4
20 leber congenital amaurosis 30.7 TMEM67 SPATA7 SDCCAG8 RPGRIP1L RPGRIP1 RPGR
21 joubert syndrome 1 30.6 WDR19 TRAF3IP1 TMEM67 SPATA7 SDCCAG8 RPGRIP1L
22 joubert syndrome 4 30.5 TMEM67 RPGRIP1L NPHP4 NPHP3 NPHP1 MKS1
23 senior-loken syndrome 5 13.1
24 senior-loken syndrome 4 13.0
25 senior-loken syndrome 8 13.0
26 senior-loken syndrome 6 12.9
27 senior-loken syndrome 7 12.9
28 senior-loken syndrome 9 12.9
29 arima syndrome 11.7
30 neuroretinitis 10.8
31 retinitis 10.8
32 cone-rod dystrophy 1 10.7 RPGRIP1 RPGR NPHP4
33 bardet-biedl syndrome 1 10.7 NPHP1 IFT88 BBS2
34 retinal aplasia 10.7 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
35 polycystic kidney disease 10.7 TMEM67 NPHP3 INVS IFT88
36 joubert syndrome 21 10.7 SDCCAG8 NPHP4 NPHP1 CEP164
37 cogan syndrome 10.7 NPHP4 NPHP1 CEP290 AHI1
38 infantile nephronophthisis 10.7 NPHP4 NPHP3 INVS
39 caroli disease 10.7 WDR19 NPHP3 NPHP1 INVS
40 leber congenital amaurosis 1 10.7 SPATA7 RPGRIP1 IQCB1 CEP290
41 joubert syndrome 9 10.7 TMEM67 RPGRIP1L CEP290
42 nephronophthisis 18 10.7 SDCCAG8 NPHP3 NPHP1 INVS CEP164
43 nephronophthisis 15 10.7 SDCCAG8 NPHP4 NPHP1 INVS CEP164
44 encephalocele 10.7 TMEM67 MKS1 CEP290
45 bardet-biedl syndrome 13 10.7 SDCCAG8 MKS1 CEP290
46 simpson-golabi-behmel syndrome, type 2 10.7 SDCCAG8 RPGRIP1 IFT88 CEP290
47 laurence-moon syndrome 10.7 RPGRIP1 RPGR BBS2
48 joubert syndrome 10 10.7 TMEM67 RPGRIP1L NPHP1 AHI1
49 leber congenital amaurosis 3 10.7 SPATA7 RPGRIP1 CEP290
50 retinal ciliopathy 10.7 SPATA7 RPGRIP1 RPGR IQCB1 CEP290

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:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 58 31 hallmark (90%) Very frequent (99-80%) HP:0000822
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
4 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
5 retinal dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000556
6 stage 5 chronic kidney disease 58 31 hallmark (90%) Very frequent (99-80%) HP:0003774
7 progressive visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000529
8 premature ovarian insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0008209
9 nephronophthisis 58 31 frequent (33%) Frequent (79-30%) HP:0000090
10 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
11 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
12 cone-shaped epiphysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010579
13 congenital hepatic fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002612
14 abnormality of bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0004348
15 rod-cone dystrophy 31 HP:0000510
16 visual impairment 58 Very frequent (99-80%)
17 polydipsia 31 HP:0001959
18 anemia 31 HP:0001903
19 chronic kidney disease 58 Very frequent (99-80%)
20 polyuria 31 HP:0000103

Symptoms via clinical synopsis from OMIM:

56
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:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.34 AHI1 BBS2 CEP290 IFT88 INVS MKS1
2 growth/size/body region MP:0005378 10.18 AHI1 BBS2 CEP290 IFT88 INVS IQCB1
3 craniofacial MP:0005382 10.08 CEP290 IFT88 MKS1 NPHP3 RPGRIP1L SDCCAG8
4 mortality/aging MP:0010768 10.07 AHI1 CEP164 CEP290 IFT88 INVS IQCB1
5 digestive/alimentary MP:0005381 10.06 BBS2 IFT88 INVS MKS1 RPGRIP1L SDCCAG8
6 nervous system MP:0003631 10.06 AHI1 BBS2 CEP290 IFT88 MKS1 NPHP1
7 embryo MP:0005380 10.03 IFT88 INVS MKS1 NPHP3 RPGRIP1L TMEM67
8 limbs/digits/tail MP:0005371 9.97 BBS2 IFT88 MKS1 RPGRIP1L SDCCAG8 TMEM67
9 liver/biliary system MP:0005370 9.87 BBS2 CEP290 IFT88 INVS MKS1 RPGRIP1L
10 renal/urinary system MP:0005367 9.73 AHI1 BBS2 CEP290 IFT88 INVS MKS1
11 vision/eye MP:0005391 9.47 AHI1 BBS2 CEP290 IFT88 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
2 Renal Dysplasia and Retinal Aplasia 29

Anatomical Context for Senior-Loken Syndrome 1

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

40
Kidney, Eye, Retina, Liver, Brain, Testes, Bone

Publications for Senior-Loken Syndrome 1

Articles related to Senior-Loken Syndrome 1:

(show top 50) (show all 101)
# Title Authors PMID Year
1
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. 61 56 6
15723066 2005
2
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. 56 6
12205563 2002
3
Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36. 56 6
11920287 2002
4
Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. 56 6
9856524 1998
5
WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. 61 6
23683095 2013
6
IQCB1 mutations in patients with leber congenital amaurosis. 61 6
20881296 2011
7
Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. 61 6
21220633 2011
8
Senior-Loken syndrome: revisited. 61 56
8008515 1994
9
Senior-Loken syndrome. Case reports of two siblings and association with sensorineural deafness. 61 56
1540564 1992
10
Senior-Loken syndrome (familial renal-retinal dystrophy) and Coats' disease. 61 56
4073180 1985
11
Carrier detection in tapetoretinal degeneration in association with medullary cystic disease. 61 6
6837691 1983
12
Senior-Loken syndrome (nephronophthisis and tapeto-retinal degeneration): a study of 8 cases from 5 families. 61 6
1248184 1976
13
Nephronophthisis 6
27336129 2016
14
Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization. 6
26487268 2015
15
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 6
23559409 2013
16
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 6
22863007 2012
17
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. 6
22019273 2011
18
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. 6
20835237 2010
19
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. 56
19430481 2009
20
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. 6
16682973 2006
21
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. 6
16155189 2006
22
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. 6
15138899 2004
23
Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene. 56
11752023 2002
24
Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. 6
10712196 2000
25
A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. 6
9326933 1997
26
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. 6
8852662 1996
27
Hereditary sclerosing glomerulopathy in the conorenal syndrome. 56
7747734 1995
28
A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p. 56
7981755 1993
29
Retinal manifestations in familial juvenile nephronophthisis. 56
519897 1979
30
[Familial nephropathy with retinitis pigmentosa and peripheral dysostosis]. 56
617982 1977
31
Electro-rentinal abnormalities in heterozygotes of renal-retinal dysplasia. 56
920253 1977
32
Hereditary renal-retinal dysplasia and the medullary cystic disease-nephronophthisis complex. 56
766680 1976
33
Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis. 56
1149338 1975
34
Congenital hepatic fibrosis and nephronophthisis. A family study. 56
4688793 1973
35
[Tubulo-interstitial nephropathy in children with tapeto-retinal degeneration (Senior's syndrome. (1 case)]. 56
5425822 1970
36
Familial occurrence of congenital retinal blindness and developmental renal lesions. 56
5387411 1969
37
Hereditary renal-retinal dysplasia. 56
5771531 1969
38
Familial Visual Defects Associated with Polycystic Kidney and Medullary Sponge Kidney. 56
20789756 1963
39
Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. 56
13910672 1961
40
Hereditary renal dysplasia and blindness. 56
13763238 1961
41
The Inheritance of a Retinal Abnormality in White Mice. 56
16576828 1924
42
Generation of human induced pluripotent stem cells from peripheral blood mononuclear cells of a Senior-Loken syndrome patient. 61
31734643 2019
43
Exudative Retinal Detachment due to Coats Disease in a Teenager with Senior-Loken Syndrome: Case Report and Review of Literature. 61
31205846 2019
44
Molecular Study of Nephronophthisis in 7 Unrelated Pakistani Families. 61
30087219 2018
45
Senior Loken Syndrome. 61
28050464 2016
46
Fundus Examination Pointing to the Diagnosis of Senior-Loken Syndrome. 61
27548298 2016
47
Median sacral artery injury following a bone marrow biopsy successfully treated with selective trans-arterial embolization: a case report. 61
26911721 2016
48
Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome. 61
25987160 2015
49
[Senior Loken syndrome]. 61
26889322 2015
50
Senior- loken syndrome - a ciliopathy. 61
25584255 2014

Variations for Senior-Loken Syndrome 1

ClinVar genetic disease variations for Senior-Loken Syndrome 1:

6 (show top 50) (show all 273) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NPHP1 NPHP1, DELdeletion Pathogenic 3511
2 IQCB1 NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter)SNV Pathogenic 504877 rs866982675 3:121500637-121500637 3:121781790-121781790
3 CEP290 NM_025114.3(CEP290):c.1623+10G>TSNV Conflicting interpretations of pathogenicity 310617 rs377529198 12:88512410-88512410 12:88118633-88118633
4 CEP290 NM_025114.3(CEP290):c.5764A>C (p.Ile1922Leu)SNV Conflicting interpretations of pathogenicity 310591 rs746949236 12:88465649-88465649 12:88071872-88071872
5 CEP290 NM_025114.3(CEP290):c.2174A>C (p.Glu725Ala)SNV Conflicting interpretations of pathogenicity 310614 rs375038986 12:88505514-88505514 12:88111737-88111737
6 CEP290 NM_025114.3(CEP290):c.-41C>TSNV Conflicting interpretations of pathogenicity 310636 rs759820573 12:88535690-88535690 12:88141913-88141913
7 CEP290 NM_025114.3(CEP290):c.7186G>T (p.Asp2396Tyr)SNV Conflicting interpretations of pathogenicity 310589 rs189556433 12:88444154-88444154 12:88050377-88050377
8 CEP290 NM_025114.3(CEP290):c.4151G>A (p.Arg1384His)SNV Conflicting interpretations of pathogenicity 310602 rs143152287 12:88481600-88481600 12:88087823-88087823
9 CEP290 NM_025114.3(CEP290):c.3790C>T (p.Arg1264Cys)SNV Conflicting interpretations of pathogenicity 310606 rs139998038 12:88483048-88483048 12:88089271-88089271
10 CEP290 NM_025114.3(CEP290):c.1908A>T (p.Lys636Asn)SNV Conflicting interpretations of pathogenicity 310616 rs199747962 12:88508876-88508876 12:88115099-88115099
11 CEP290 NM_025114.3(CEP290):c.2616G>A (p.Ser872=)SNV Conflicting interpretations of pathogenicity 310611 rs776360559 12:88500653-88500653 12:88106876-88106876
12 CEP290 NM_025114.3(CEP290):c.4293G>A (p.Ala1431=)SNV Conflicting interpretations of pathogenicity 310600 rs377614744 12:88480177-88480177 12:88086400-88086400
13 CEP290 NM_025114.3(CEP290):c.503G>A (p.Arg168His)SNV Conflicting interpretations of pathogenicity 310628 rs200063017 12:88524335-88524335 12:88130558-88130558
14 SDCCAG8 NM_006642.5(SDCCAG8):c.348C>T (p.His116=)SNV Conflicting interpretations of pathogenicity 296907 rs143226730 1:243437886-243437886 1:243274584-243274584
15 NPHP1 NM_000272.4(NPHP1):c.456A>G (p.Ser152=)SNV Conflicting interpretations of pathogenicity 330738 rs143163969 2:110927449-110927449 2:110169872-110169872
16 NPHP4 NM_015102.5(NPHP4):c.4237G>A (p.Asp1413Asn)SNV Conflicting interpretations of pathogenicity 297784 rs115910810 1:5923369-5923369 1:5863309-5863309
17 NPHP4 NM_015102.5(NPHP4):c.2557G>T (p.Asp853Tyr)SNV Conflicting interpretations of pathogenicity 297804 rs199875059 1:5940228-5940228 1:5880168-5880168
18 NPHP4 NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly)SNV Conflicting interpretations of pathogenicity 297823 rs117898549 1:5993313-5993313 1:5933253-5933253
19 NPHP4 NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=)SNV Conflicting interpretations of pathogenicity 297793 rs374003717 1:5926465-5926465 1:5866405-5866405
20 NPHP4 NM_015102.5(NPHP4):c.2115T>C (p.Pro705=)SNV Conflicting interpretations of pathogenicity 297811 rs200848754 1:5964705-5964705 1:5904645-5904645
21 NPHP4 NM_015102.5(NPHP4):c.1764-5C>TSNV Conflicting interpretations of pathogenicity 297816 rs370899989 1:5965548-5965548 1:5905488-5905488
22 NPHP4 NM_015102.5(NPHP4):c.1668C>T (p.Thr556=)SNV Conflicting interpretations of pathogenicity 297817 rs753733095 1:5965787-5965787 1:5905727-5905727
23 NPHP4 NM_015102.5(NPHP4):c.1503+10G>ASNV Conflicting interpretations of pathogenicity 297819 rs41307782 1:5969202-5969202 1:5909142-5909142
24 NPHP1 NM_000272.4(NPHP1):c.969G>A (p.Thr323=)SNV Conflicting interpretations of pathogenicity 330734 rs141763330 2:110920683-110920683 2:110163106-110163106
25 IQCB1 NM_001023570.4(IQCB1):c.1344A>G (p.Gln448=)SNV Conflicting interpretations of pathogenicity 342773 rs886057824 3:121500656-121500656 3:121781809-121781809
26 CEP290 NM_025114.3(CEP290):c.4087C>T (p.Arg1363Trp)SNV Conflicting interpretations of pathogenicity 310603 rs181121175 12:88481664-88481664 12:88087887-88087887
27 CEP290 NM_025114.3(CEP290):c.1549T>C (p.Leu517=)SNV Conflicting interpretations of pathogenicity 310619 rs752942122 12:88512494-88512494 12:88118717-88118717
28 CEP290 NM_001009894.3(C12orf29):c.*837T>CSNV Conflicting interpretations of pathogenicity 310585 rs765709669 12:88443036-88443036 12:88049259-88049259
29 NPHP4 NM_015102.5(NPHP4):c.3479C>T (p.Pro1160Leu)SNV Conflicting interpretations of pathogenicity 220304 rs113445782 1:5927169-5927169 1:5867109-5867109
30 NPHP1 NM_000272.4(NPHP1):c.830G>A (p.Arg277Gln)SNV Conflicting interpretations of pathogenicity 198703 rs143174377 2:110922206-110922206 2:110164629-110164629
31 NPHP4 NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=)SNV Conflicting interpretations of pathogenicity 215887 rs374146357 1:5923976-5923976 1:5863916-5863916
32 IQCB1 NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr)SNV Conflicting interpretations of pathogenicity 215481 rs139468837 3:121491422-121491422 3:121772575-121772575
33 NPHP4 NM_015102.5(NPHP4):c.3243G>C (p.Gly1081=)SNV Conflicting interpretations of pathogenicity 95681 rs41280800 1:5933384-5933384 1:5873324-5873324
34 NPHP4 NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)SNV Conflicting interpretations of pathogenicity 95682 rs139767853 1:5927943-5927943 1:5867883-5867883
35 NPHP4 NM_015102.5(NPHP4):c.3876C>T (p.Gly1292=)SNV Conflicting interpretations of pathogenicity 95685 rs115526767 1:5924518-5924518 1:5864458-5864458
36 NPHP1 NM_000272.3(NPHP1):c.625-3dupduplication Conflicting interpretations of pathogenicity 156395 rs200118387 2:110922740-110922740 2:110165157-110165158
37 NPHP1 NM_000272.4(NPHP1):c.232T>C (p.Tyr78His)SNV Conflicting interpretations of pathogenicity 167377 rs140446520 2:110936097-110936097 2:110178520-110178520
38 CEP290 NM_025114.3(CEP290):c.5055G>A (p.Ala1685=)SNV Conflicting interpretations of pathogenicity 166834 rs73192874 12:88474130-88474130 12:88080353-88080353
39 NPHP4 NM_015102.5(NPHP4):c.1442-7C>TSNV Conflicting interpretations of pathogenicity 166893 rs146078470 1:5969280-5969280 1:5909220-5909220
40 NPHP1 NM_000272.4(NPHP1):c.1035A>G (p.Gln345=)SNV Conflicting interpretations of pathogenicity 193569 rs371112962 2:110919267-110919267 2:110161690-110161690
41 NPHP4 NM_015102.5(NPHP4):c.1632C>T (p.Ala544=)SNV Conflicting interpretations of pathogenicity 194411 rs201903713 1:5965823-5965823 1:5905763-5905763
42 NPHP4 NM_015102.5(NPHP4):c.1966G>A (p.Asp656Asn)SNV Conflicting interpretations of pathogenicity 194659 rs191602135 1:5964854-5964854 1:5904794-5904794
43 NPHP4 NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn)SNV Conflicting interpretations of pathogenicity 194764 rs148424288 1:5950975-5950975 1:5890915-5890915
44 NPHP4 NM_015102.5(NPHP4):c.2965G>A (p.Glu989Lys)SNV Conflicting interpretations of pathogenicity 195608 rs116606479 1:5935013-5935013 1:5874953-5874953
45 CEP290 NM_025114.3(CEP290):c.3654T>C (p.Leu1218=)SNV Conflicting interpretations of pathogenicity 196714 rs201838492 12:88483184-88483184 12:88089407-88089407
46 SDCCAG8 NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=)SNV Conflicting interpretations of pathogenicity 167663 rs148818431 1:243434326-243434326 1:243271024-243271024
47 CEP290 NM_025114.3(CEP290):c.5322C>T (p.Leu1774=)SNV Conflicting interpretations of pathogenicity 197085 rs117370446 12:88472911-88472911 12:88079134-88079134
48 CEP290 NM_025114.3(CEP290):c.1624-5T>CSNV Conflicting interpretations of pathogenicity 136727 rs142742071 12:88512352-88512352 12:88118575-88118575
49 CEP290 NM_025114.3(CEP290):c.3465G>A (p.Leu1155=)SNV Conflicting interpretations of pathogenicity 136729 rs150138016 12:88484613-88484613 12:88090836-88090836
50 CEP290 NM_025114.3(CEP290):c.5199A>G (p.Gln1733=)SNV Conflicting interpretations of pathogenicity 136730 rs79644671 12:88473986-88473986 12:88080209-88080209

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 21)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.44 WDR19 TRAF3IP1 TMEM67 SPATA7 SDCCAG8 RPGRIP1L
2 cytosol GO:0005829 10.36 SPATA7 SDCCAG8 RPGRIP1L NPHP4 NPHP3 NPHP1
3 centrosome GO:0005813 10.15 TRAF3IP1 TMEM67 SDCCAG8 RPGRIP1L RPGR NPHP4
4 microtubule organizing center GO:0005815 10.11 SDCCAG8 RPGRIP1L RPGR NPHP4 MKS1 IQCB1
5 cilium GO:0005929 10.03 WDR19 TRAF3IP1 TMEM67 RPGRIP1L RPGRIP1 RPGR
6 ciliary basal body GO:0036064 10 TRAF3IP1 SPATA7 SDCCAG8 RPGRIP1L RPGR NPHP4
7 centriole GO:0005814 9.98 SDCCAG8 MKS1 IQCB1 IFT88 CEP290 CEP164
8 cell-cell junction GO:0005911 9.95 SDCCAG8 RPGRIP1L NPHP4 NPHP1 AHI1
9 ciliary transition zone GO:0035869 9.95 TRAF3IP1 TMEM67 RPGRIP1L NPHP4 NPHP1 MKS1
10 motile cilium GO:0031514 9.92 WDR19 RPGR NPHP1 IFT88 BBS2
11 photoreceptor connecting cilium GO:0032391 9.92 WDR19 SPATA7 RPGRIP1L RPGRIP1 NPHP4 NPHP1
12 cell projection GO:0042995 9.89 WDR19 TRAF3IP1 TMEM67 SPATA7 SDCCAG8 RPGRIP1L
13 non-motile cilium GO:0097730 9.88 WDR19 RPGRIP1 NPHP4 IFT88 AHI1
14 axoneme GO:0005930 9.86 TRAF3IP1 SPATA7 RPGRIP1L RPGRIP1
15 photoreceptor outer segment GO:0001750 9.84 WDR19 SPATA7 RPGR IQCB1
16 MKS complex GO:0036038 9.8 TMEM67 MKS1 CEP290 AHI1
17 bicellular tight junction GO:0005923 9.77 RPGRIP1L NPHP4 NPHP1
18 ciliary tip GO:0097542 9.75 WDR19 TRAF3IP1 IFT88
19 ciliary base GO:0097546 9.74 TRAF3IP1 NPHP4 IFT88
20 intraciliary transport particle B GO:0030992 9.6 TRAF3IP1 IFT88
21 cytoskeleton GO:0005856 9.55 WDR19 TRAF3IP1 TMEM67 SPATA7 SDCCAG8 RPGRIP1L

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.85 SPATA7 RPGRIP1 RPGR BBS2
2 ciliary basal body-plasma membrane docking GO:0097711 9.85 TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP1 MKS1
3 G2/M transition of mitotic cell cycle GO:0000086 9.79 SDCCAG8 CEP290 CEP164
4 cilium assembly GO:0060271 9.77 WDR19 TRAF3IP1 TMEM67 RPGRIP1L RPGR NPHP3
5 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.76 SDCCAG8 CEP290 CEP164
6 determination of left/right symmetry GO:0007368 9.74 RPGRIP1L NPHP3 MKS1
7 retina development in camera-type eye GO:0060041 9.73 RPGRIP1 NPHP4 NPHP1
8 kidney development GO:0001822 9.71 TRAF3IP1 RPGRIP1L NPHP3 IFT88
9 photoreceptor cell maintenance GO:0045494 9.65 SPATA7 NPHP4 NPHP3 IQCB1 BBS2
10 inner ear receptor cell stereocilium organization GO:0060122 9.63 MKS1 IFT88
11 regulation of smoothened signaling pathway GO:0008589 9.62 RPGRIP1L MKS1
12 non-motile cilium assembly GO:1905515 9.62 RPGRIP1L MKS1 IFT88 BBS2
13 hindbrain development GO:0030902 9.61 CEP290 AHI1
14 head development GO:0060322 9.61 RPGRIP1L MKS1
15 intraciliary transport involved in cilium assembly GO:0035735 9.61 WDR19 TRAF3IP1 IFT88
16 eye photoreceptor cell development GO:0042462 9.6 RPGRIP1 CEP290
17 embryonic camera-type eye development GO:0031076 9.59 WDR19 TRAF3IP1
18 photoreceptor cell outer segment organization GO:0035845 9.58 NPHP4 AHI1
19 positive regulation of bicellular tight junction assembly GO:1903348 9.54 NPHP4 NPHP1
20 intraciliary transport GO:0042073 9.54 TRAF3IP1 RPGR IFT88
21 neural tube patterning GO:0021532 9.52 TRAF3IP1 RPGRIP1L
22 maintenance of animal organ identity GO:0048496 9.51 NPHP3 IQCB1
23 morphogenesis of a polarized epithelium GO:0001738 9.49 TRAF3IP1 AHI1
24 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.48 NPHP3 MKS1
25 visual behavior GO:0007632 9.46 NPHP4 NPHP1
26 cell projection organization GO:0030030 9.44 WDR19 TRAF3IP1 TMEM67 SDCCAG8 RPGR NPHP1

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 9.6 WDR19 TRAF3IP1 TMEM67 SPATA7 SDCCAG8 RPGRIP1L

Sources for Senior-Loken Syndrome 1

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