SLSN1
MCID: SNR003
MIFTS: 56

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
Senior Loken Syndrome 52 6
Slsn1 56 73
Renal Dysplasia-Retinal Aplasia Syndrome 58
Nephronophthisis with Retinal Dystrophy 58
Renal Dysplasia Retinal Aplasia 52
Loken Senior Syndrome 12
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 eye, kidney and retina, and related phenotypes are global developmental delay and short stature

Disease Ontology : 12 A syndrome 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-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 153)
# Related Disease Score Top Affiliating Genes
1 senior-loken syndrome 3 35.1 SLSN3 NPHP1
2 nephronophthisis 33.6 WDR19 TTC21B TRAF3IP1 TMEM67 SDCCAG8 RPGRIP1L
3 nephronophthisis 1 33.0 NPHP4 NPHP3 NPHP1 INVS AHI1
4 juvenile nephronophthisis 32.2 WDR19 NPHP4 NPHP3 NPHP1 IQCB1 INVS
5 inherited retinal disorder 32.0 WDR19 TTC21B SPATA7 RPGRIP1 RPGR IQCB1
6 ciliopathy 31.7 WDR19 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4
7 retinal degeneration 31.7 TTC21B TMEM67 SPATA7 RPGRIP1L RPGRIP1 RPGR
8 kidney disease 31.7 TMEM67 NPHP4 NPHP1 CEP290 AHI1
9 cystic kidney disease 31.6 TTC21B TMEM67 RPGRIP1L NPHP4 NPHP3 NPHP1
10 end stage renal disease 31.6 NPHP4 NPHP3 INVS
11 fundus dystrophy 31.6 WDR19 TTC21B TMEM67 SPATA7 SDCCAG8 RPGRIP1L
12 retinal disease 31.5 RPGRIP1 RPGR CEP290 BBS2
13 retinitis pigmentosa 31.5 WDR19 TTC21B TMEM67 SPATA7 SDCCAG8 RPGRIP1L
14 eye disease 31.5 WDR19 TRAF3IP1 SDCCAG8 RPGR NPHP4 NPHP1
15 yemenite deaf-blind hypopigmentation syndrome 31.5 RPGR CEP290
16 nephronophthisis 4 31.4 RPGRIP1 NPHP4 NPHP1
17 pathologic nystagmus 31.2 TMEM67 SPATA7 RPGRIP1 RPGR MKS1 CEP290
18 bardet-biedl syndrome 31.1 WDR19 TTC21B TRAF3IP1 TMEM67 SPATA7 SDCCAG8
19 cranioectodermal dysplasia 1 31.0 WDR19 TTC21B TRAF3IP1 TMEM67 RPGRIP1L RPGR
20 leber plus disease 30.8 WDR19 TTC21B TMEM67 SPATA7 SDCCAG8 RPGRIP1L
21 joubert syndrome 1 30.8 WDR19 TTC21B TRAF3IP1 TMEM67 SPATA7 SDCCAG8
22 joubert syndrome 4 30.6 TTC21B TMEM67 RPGRIP1L NPHP4 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 retinal aplasia 10.7 SDCCAG8 NPHP4 NPHP1 IQCB1 CEP290
34 joubert syndrome 15 10.7 RPGRIP1L NPHP4 NPHP1
35 infantile nephronophthisis 10.7 TTC21B NPHP4 NPHP3 INVS
36 cogan syndrome 10.7 NPHP4 NPHP1 CEP290 AHI1
37 joubert syndrome 17 10.7 WDR19 TTC21B TRAF3IP1
38 caroli disease 10.7 WDR19 NPHP3 INVS
39 leber congenital amaurosis 1 10.7 SPATA7 RPGRIP1 IQCB1 CEP290
40 meckel syndrome, type 8 10.7 TMEM67 RPGRIP1L NPHP3
41 encephalocele 10.7 TMEM67 MKS1 CEP290
42 nephronophthisis 18 10.7 TTC21B SDCCAG8 NPHP4 NPHP3 NPHP1 INVS
43 congenital hepatic fibrosis 10.7 TMEM67 RPGRIP1L AHI1
44 bardet-biedl syndrome 18 10.7 SDCCAG8 MKS1 BBS2
45 short-rib thoracic dysplasia 12 10.7 WDR19 TTC21B TRAF3IP1
46 leber congenital amaurosis 3 10.7 SPATA7 RPGRIP1 NPHP4 CEP290
47 bardet-biedl syndrome 13 10.7 MKS1 CEP290 BBS2
48 joubert syndrome 10 10.7 TMEM67 RPGRIP1L NPHP1 AHI1
49 nephronophthisis 15 10.7 WDR19 SDCCAG8 NPHP4 NPHP3 NPHP1 INVS
50 bardet-biedl syndrome 11 10.7 SDCCAG8 MKS1 CEP290 BBS2

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 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
4 hypertension 58 31 hallmark (90%) Very frequent (99-80%) HP:0000822
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 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
11 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
12 abnormality of bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0004348
13 cone-shaped epiphysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0010579
14 congenital hepatic fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002612
15 visual impairment 58 Very frequent (99-80%)
16 polydipsia 31 HP:0001959
17 anemia 31 HP:0001903
18 rod-cone dystrophy 31 HP:0000510
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
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.35 AHI1 BBS2 CEP290 INVS MKS1 NPHP1
2 growth/size/body region MP:0005378 10.15 AHI1 BBS2 CEP290 INVS IQCB1 MKS1
3 mortality/aging MP:0010768 10.07 AHI1 CEP164 CEP290 INVS IQCB1 MKS1
4 craniofacial MP:0005382 10.06 CEP290 MKS1 NPHP3 RPGRIP1L SDCCAG8 TMEM67
5 nervous system MP:0003631 10.06 AHI1 BBS2 CEP290 MKS1 NPHP1 NPHP3
6 embryo MP:0005380 10.01 INVS MKS1 NPHP3 RPGRIP1L TMEM67 TRAF3IP1
7 digestive/alimentary MP:0005381 9.98 BBS2 INVS MKS1 RPGRIP1L SDCCAG8 TMEM67
8 limbs/digits/tail MP:0005371 9.92 BBS2 MKS1 RPGRIP1L SDCCAG8 TMEM67 TRAF3IP1
9 renal/urinary system MP:0005367 9.73 AHI1 BBS2 CEP290 INVS MKS1 NPHP1
10 vision/eye MP:0005391 9.44 AHI1 BBS2 CEP290 MKS1 NPHP1 NPHP4

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:

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

Publications for Senior-Loken Syndrome 1

Articles related to Senior-Loken Syndrome 1:

(show top 50) (show all 103)
# Title Authors PMID Year
1
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. 6 56 61
15723066 2005
2
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. 6 56
12205563 2002
3
Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36. 6 56
11920287 2002
4
Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. 6 56
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. 6 61
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
Investigation of CEP290 genotype-phenotype correlations in a patient with retinitis pigmentosa, infertility, end-stage renal disease, and a novel mutation. 61
32208788 2020
43
Threatening drug-drug interaction in a kidney transplant patient with Coronavirus Disease 2019 (COVID-19). 61
32279418 2020
44
Generation of human induced pluripotent stem cells from peripheral blood mononuclear cells of a Senior-Loken syndrome patient. 61
31734643 2019
45
Exudative Retinal Detachment due to Coats Disease in a Teenager with Senior-Loken Syndrome: Case Report and Review of Literature. 61
31205846 2019
46
Molecular Study of Nephronophthisis in 7 Unrelated Pakistani Families. 61
30087219 2018
47
Senior Loken Syndrome. 61
28050464 2016
48
Fundus Examination Pointing to the Diagnosis of Senior-Loken Syndrome. 61
27548298 2016
49
Median sacral artery injury following a bone marrow biopsy successfully treated with selective trans-arterial embolization: a case report. 61
26911721 2016
50
Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome. 61
25987160 2015

Variations for Senior-Loken Syndrome 1

ClinVar genetic disease variations for Senior-Loken Syndrome 1:

6 (show top 50) (show all 83) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IQCB1 NM_001023570.4(IQCB1):c.1363C>T (p.Arg455Ter)SNV Pathogenic 504877 rs866982675 3:121500637-121500637 3:121781790-121781790
2 SDCCAG8 NM_006642.5(SDCCAG8):c.1714C>T (p.Gln572Ter)SNV Pathogenic 812430 1:243579101-243579101 1:243415799-243415799
3 IQCB1 NM_001023570.4(IQCB1):c.1108dup (p.Met370fs)duplication Pathogenic 812337 3:121508940-121508941 3:121790093-121790094
4 IQCB1 NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)SNV Pathogenic 1830 rs121918244 3:121500619-121500619 3:121781772-121781772
5 NPHP1 NPHP1, DELdeletion Pathogenic 3511
6 TTC21B NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)SNV Pathogenic 30935 rs140511594 2:166797621-166797621 2:165941111-165941111
7 TTC21B NM_024753.5(TTC21B):c.1088-1G>CSNV Likely pathogenic 449860 rs753627675 2:166786258-166786258 2:165929748-165929748
8 NPHP1 NM_001128178.3(NPHP1):c.*194T>CSNV Conflicting interpretations of pathogenicity 894599 2:110881174-110881174 2:110123597-110123597
9 NPHP1 NM_000272.3(NPHP1):c.625-3dupduplication Conflicting interpretations of pathogenicity 156395 rs200118387 2:110922740-110922740 2:110165157-110165158
10 NPHP1 NM_000272.4(NPHP1):c.232T>C (p.Tyr78His)SNV Conflicting interpretations of pathogenicity 167377 rs140446520 2:110936097-110936097 2:110178520-110178520
11 NPHP1 NM_000272.4(NPHP1):c.1035A>G (p.Gln345=)SNV Conflicting interpretations of pathogenicity 193569 rs371112962 2:110919267-110919267 2:110161690-110161690
12 NPHP1 NM_000272.4(NPHP1):c.1438-4C>TSNV Conflicting interpretations of pathogenicity 194327 rs151204566 2:110904416-110904416 2:110146839-110146839
13 CEP290 NM_025114.4(CEP290):c.2484-18GTTTT[4]short repeat Conflicting interpretations of pathogenicity 220050 rs745522483 12:88500878-88500879 12:88107101-88107102
14 NPHP1 NM_000272.4(NPHP1):c.1121C>T (p.Thr374Ile)SNV Conflicting interpretations of pathogenicity 287345 rs140469160 2:110919181-110919181 2:110161604-110161604
15 NPHP1 NM_000272.4(NPHP1):c.971T>C (p.Met324Thr)SNV Conflicting interpretations of pathogenicity 288369 rs114250691 2:110920681-110920681 2:110163104-110163104
16 NPHP1 NM_000272.4(NPHP1):c.1637G>A (p.Arg546Lys)SNV Conflicting interpretations of pathogenicity 330730 rs149887461 2:110901179-110901179 2:110143602-110143602
17 NPHP1 NM_000272.4(NPHP1):c.456A>G (p.Ser152=)SNV Conflicting interpretations of pathogenicity 330738 rs143163969 2:110927449-110927449 2:110169872-110169872
18 NPHP1 NM_000272.4(NPHP1):c.969G>A (p.Thr323=)SNV Conflicting interpretations of pathogenicity 330734 rs141763330 2:110920683-110920683 2:110163106-110163106
19 IQCB1 NM_001023570.4(IQCB1):c.1344A>G (p.Gln448=)SNV Conflicting interpretations of pathogenicity 342773 rs886057824 3:121500656-121500656 3:121781809-121781809
20 IQCB1 NM_001023570.4(IQCB1):c.-147deldeletion Uncertain significance 342785 rs886057829 3:121553858-121553858 3:121835011-121835011
21 NPHP1 NM_000272.4(NPHP1):c.593A>G (p.Asn198Ser)SNV Uncertain significance 330737 rs886054756 2:110926060-110926060 2:110168483-110168483
22 NPHP1 NM_000272.4(NPHP1):c.*250C>TSNV Uncertain significance 330726 rs150558683 2:110881118-110881118 2:110123541-110123541
23 NPHP1 NM_000272.4(NPHP1):c.988G>C (p.Gly330Arg)SNV Uncertain significance 330733 rs886054754 2:110920664-110920664 2:110163087-110163087
24 NPHP1 NM_000272.4(NPHP1):c.669C>T (p.Gly223=)SNV Uncertain significance 330736 rs886054755 2:110922688-110922688 2:110165111-110165111
25 IQCB1 NM_001023570.4(IQCB1):c.488-21dupduplication Uncertain significance 342781 rs753164790 3:121526302-121526303 3:121807455-121807456
26 IQCB1 NM_001023571.3(IQCB1):c.-215C>TSNV Uncertain significance 342791 rs541891117 3:121553926-121553926 3:121835079-121835079
27 CEP290 NM_025114.4(CEP290):c.442-22_442-21dupduplication Uncertain significance 310630 rs199511358 12:88525005-88525006 12:88131228-88131229
28 CEP290 NM_001009894.3(C12orf29):c.*618_*621TATT[1]short repeat Uncertain significance 310583 rs886049876 12:88442815-88442818 12:88049038-88049041
29 CEP290 NM_025114.4(CEP290):c.7209+11_7209+14deldeletion Uncertain significance 310587 rs750259100 12:88444117-88444120 12:88050340-88050343
30 CEP290 NM_025114.4(CEP290):c.442-11deldeletion Uncertain significance 310631 rs199511358 12:88525006-88525006 12:88131229-88131229
31 CEP290 NM_025114.4(CEP290):c.442-22dupduplication Uncertain significance 310629 rs199511358 12:88525005-88525006 12:88131228-88131229
32 CEP290 NM_025114.4(CEP290):c.5227-14deldeletion Uncertain significance 310596 rs747878752 12:88473020-88473020 12:88079243-88079243
33 CEP290 NM_025114.4(CEP290):c.3309+2_3309+3dupduplication Uncertain significance 310608 rs886049881 12:88487542-88487543 12:88093765-88093766
34 NPHP4 NM_015102.4(NPHP4):c.-225G>ASNV Uncertain significance 297837 rs886046469 1:6052490-6052490 1:5992430-5992430
35 NPHP4 NM_015102.4(NPHP4):c.-236C>TSNV Uncertain significance 297839 rs185912310 1:6052501-6052501 1:5992441-5992441
36 NPHP4 NM_015102.4(NPHP4):c.-237G>CSNV Uncertain significance 297840 rs867788720 1:6052502-6052502 1:5992442-5992442
37 NPHP1 NM_000272.4(NPHP1):c.1333C>T (p.Arg445Cys)SNV Uncertain significance 330732 rs375907280 2:110905597-110905597 2:110148020-110148020
38 NPHP4 NM_015102.4(NPHP4):c.-235G>ASNV Uncertain significance 297838 rs765435500 1:6052500-6052500 1:5992440-5992440
39 SDCCAG8 NM_005465.7(AKT3):c.*5155_*5159dupduplication Uncertain significance 296922 rs577416381 1:243663391-243663392 1:243500089-243500090
40 SDCCAG8 NM_006642.5(SDCCAG8):c.*214_*217dupduplication Uncertain significance 296920 rs1057515485 1:243663299-243663300 1:243499997-243499998
41 NPHP1 NM_000272.4(NPHP1):c.1447G>C (p.Glu483Gln)SNV Uncertain significance 330731 rs886054753 2:110904403-110904403 2:110146826-110146826
42 NPHP1 NM_000272.4(NPHP1):c.860A>G (p.Asn287Ser)SNV Uncertain significance 330735 rs139787582 2:110922176-110922176 2:110164599-110164599
43 SDCCAG8 NM_006642.5(SDCCAG8):c.*62_*66dupduplication Uncertain significance 296917 rs368945100 1:243663148-243663149 1:243499846-243499847
44 SDCCAG8 NM_006642.5(SDCCAG8):c.*287A>GSNV Uncertain significance 296921 rs1057515459 1:243663374-243663374 1:243500072-243500072
45 NPHP1 NM_000272.4(NPHP1):c.*333_*335AAC[1]short repeat Uncertain significance 330724 rs555468187 2:110881030-110881032 2:110123453-110123455
46 NPHP1 NM_000272.4(NPHP1):c.*322A>GSNV Uncertain significance 330725 rs886054752 2:110881046-110881046 2:110123469-110123469
47 NPHP1 NM_000272.4(NPHP1):c.2100C>T (p.Gly700=)SNV Uncertain significance 330727 rs200631256 2:110881470-110881470 2:110123893-110123893
48 NPHP1 NM_000272.4(NPHP1):c.1889C>T (p.Ser630Leu)SNV Uncertain significance 330728 rs138181219 2:110883254-110883254 2:110125677-110125677
49 NPHP1 NM_000272.4(NPHP1):c.1690G>C (p.Val564Leu)SNV Uncertain significance 330729 rs573192954 2:110901126-110901126 2:110143549-110143549
50 NPHP1 NM_000272.4(NPHP1):c.940-5T>CSNV Uncertain significance 498608 rs201478764 2:110920717-110920717 2:110163140-110163140

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 20)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.44 WDR19 TTC21B TRAF3IP1 TMEM67 SPATA7 SDCCAG8
2 cytosol GO:0005829 10.36 SPATA7 SDCCAG8 RPGRIP1L NPHP4 NPHP3 NPHP1
3 centrosome GO:0005813 10.11 TRAF3IP1 TMEM67 SDCCAG8 RPGRIP1L RPGR NPHP4
4 microtubule organizing center GO:0005815 10.06 SDCCAG8 RPGRIP1L RPGR NPHP4 MKS1 IQCB1
5 cilium GO:0005929 10.03 WDR19 TTC21B TRAF3IP1 TMEM67 RPGRIP1L RPGRIP1
6 ciliary basal body GO:0036064 9.96 TRAF3IP1 SPATA7 SDCCAG8 RPGRIP1L RPGR NPHP4
7 centriole GO:0005814 9.95 SDCCAG8 MKS1 IQCB1 CEP290 CEP164 AHI1
8 cell-cell junction GO:0005911 9.93 SDCCAG8 RPGRIP1L NPHP4 NPHP1 AHI1
9 photoreceptor connecting cilium GO:0032391 9.92 WDR19 SPATA7 RPGRIP1L RPGRIP1 NPHP4 NPHP1
10 cell projection GO:0042995 9.89 WDR19 TTC21B TRAF3IP1 TMEM67 SPATA7 SDCCAG8
11 ciliary transition zone GO:0035869 9.88 TRAF3IP1 TMEM67 RPGRIP1L NPHP4 MKS1 CEP290
12 motile cilium GO:0031514 9.86 WDR19 RPGR NPHP1 BBS2
13 axoneme GO:0005930 9.85 TRAF3IP1 SPATA7 RPGRIP1L RPGRIP1
14 photoreceptor outer segment GO:0001750 9.83 WDR19 SPATA7 RPGR IQCB1
15 non-motile cilium GO:0097730 9.8 WDR19 RPGRIP1 NPHP4 AHI1
16 bicellular tight junction GO:0005923 9.77 RPGRIP1L NPHP4 NPHP1
17 ciliary tip GO:0097542 9.74 WDR19 TTC21B TRAF3IP1
18 MKS complex GO:0036038 9.73 TMEM67 MKS1 CEP290 AHI1
19 intraciliary transport particle A GO:0030991 9.58 WDR19 TTC21B
20 cytoskeleton GO:0005856 9.55 WDR19 TTC21B TRAF3IP1 TMEM67 SPATA7 SDCCAG8

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.85 TMEM67 SDCCAG8 RPGRIP1L NPHP4 NPHP1 MKS1
2 visual perception GO:0007601 9.84 SPATA7 RPGRIP1 RPGR BBS2
3 G2/M transition of mitotic cell cycle GO:0000086 9.8 SDCCAG8 CEP290 CEP164
4 kidney development GO:0001822 9.79 TRAF3IP1 RPGRIP1L NPHP3
5 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.75 SDCCAG8 CEP290 CEP164
6 determination of left/right symmetry GO:0007368 9.74 RPGRIP1L NPHP3 MKS1
7 cilium assembly GO:0060271 9.73 WDR19 TRAF3IP1 TMEM67 RPGRIP1L RPGR NPHP3
8 retina development in camera-type eye GO:0060041 9.72 RPGRIP1 NPHP4 NPHP1
9 photoreceptor cell maintenance GO:0045494 9.65 SPATA7 NPHP4 NPHP3 IQCB1 BBS2
10 non-motile cilium assembly GO:1905515 9.63 RPGRIP1L MKS1 BBS2
11 hindbrain development GO:0030902 9.62 CEP290 AHI1
12 head development GO:0060322 9.61 RPGRIP1L MKS1
13 eye photoreceptor cell development GO:0042462 9.6 RPGRIP1 CEP290
14 embryonic camera-type eye development GO:0031076 9.59 WDR19 TRAF3IP1
15 photoreceptor cell outer segment organization GO:0035845 9.58 NPHP4 AHI1
16 intraciliary retrograde transport GO:0035721 9.56 WDR19 TTC21B
17 intraciliary transport involved in cilium assembly GO:0035735 9.54 WDR19 TTC21B TRAF3IP1
18 neural tube patterning GO:0021532 9.52 TRAF3IP1 RPGRIP1L
19 morphogenesis of a polarized epithelium GO:0001738 9.51 TRAF3IP1 AHI1
20 regulation of smoothened signaling pathway GO:0008589 9.5 TTC21B RPGRIP1L MKS1
21 positive regulation of bicellular tight junction assembly GO:1903348 9.49 NPHP4 NPHP1
22 maintenance of animal organ identity GO:0048496 9.48 NPHP3 IQCB1
23 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.43 NPHP3 MKS1
24 visual behavior GO:0007632 9.4 NPHP4 NPHP1
25 cell projection organization GO:0030030 9.4 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 TTC21B TRAF3IP1 TMEM67 SPATA7 SDCCAG8

Sources for Senior-Loken Syndrome 1

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