MCID: SNR003
MIFTS: 55

Senior-Loken Syndrome 1

Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological 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 59 37 15 40
Renal Dysplasia and Retinal Aplasia 57 75 29 6 73
Juvenile Nephronophthisis with Leber Amaurosis 57 53 75
Renal-Retinal Syndrome 57 12 53
Senior-Loken Syndrome-1 57 13
Loken-Senior Syndrome 57 53
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
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 polyuria and polydipsia. An important gene associated with Senior-Loken Syndrome 1 is NPHP1 (Nephrocystin 1), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include kidney, eye and liver, and related phenotypes are hypertension and ataxia

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.

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.

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 all 46)
# Related Disease Score Top Affiliating Genes
1 senior-loken syndrome 3 34.8 NPHP1 SLSN3
2 joubert syndrome with oculorenal anomalies 32.9 CEP290 NPHP4 TMEM216
3 senior-løken syndrome 32.1 CEP290 IQCB1 NPHP3 NPHP4 SLSN3
4 nephronophthisis 1 31.2 AHI1 INVS NPHP1 NPHP3 NPHP4
5 nephronophthisis 26.0 AHI1 CEP164 CEP290 INVS IQCB1 MKS1
6 senior-loken syndrome 5 12.6
7 senior-loken syndrome 4 12.6
8 senior-loken syndrome 6 12.6
9 senior-loken syndrome 7 12.6
10 senior-loken syndrome 9 12.6
11 senior-loken syndrome 8 12.6
12 nephronophthisis 4 10.8 NPHP1 NPHP4
13 leber congenital amaurosis 10 10.7 CEP290 IQCB1
14 short-rib thoracic dysplasia 12 10.7 TTC21B WDR19
15 hyperuricemic nephropathy, familial juvenile, 1 10.6 NPHP1 NPHP4
16 late-onset nephronophthisis 10.6 NPHP3 XPNPEP3
17 renal-hepatic-pancreatic dysplasia 10.6 INVS IQCB1 NPHP3
18 visceral heterotaxy 10.5 INVS NPHP1 NPHP3
19 bile duct cysts 10.5 TMEM67 WDR19
20 orofaciodigital syndrome i 10.4 CEP290 RPGR
21 nephronophthisis 2 10.4 INVS NPHP1 NPHP3 NPHP4
22 cogan syndrome 10.4 INVS NPHP1 NPHP3 NPHP4
23 bardet-biedl syndrome 1 10.3 NPHP1 SDCCAG8 TMEM67
24 cleft lip/palate 10.3 IFT140 TTC21B WDR19
25 joubert syndrome with ocular anomalies 10.3 AHI1 MKS1
26 renal dysplasia 10.3 CEP290 IFT140 NPHP4 SDCCAG8
27 hydrolethalus syndrome 1 10.3 MKS1 TMEM216
28 retinal aplasia 10.2 CEP290 IQCB1 NPHP1 NPHP4 SDCCAG8
29 bardet-biedl syndrome 14 10.2 CEP290 TMEM67
30 encephalocele 10.2 CEP290 MKS1 TMEM67
31 chronic kidney failure 10.2 INVS MKS1 NPHP1
32 infantile nephronophthisis 10.2 INVS NPHP3 NPHP4 TTC21B
33 short-rib thoracic dysplasia 1 with or without polydactyly 10.1 IFT140 TRAF3IP1 TTC21B WDR19
34 cranioectodermal dysplasia 1 10.1 IFT140 TRAF3IP1 TTC21B WDR19
35 yemenite deaf-blind hypopigmentation syndrome 10.1 CEP290 RPGR
36 juvenile nephronophthisis 10.0 INVS IQCB1 NPHP1 NPHP3 NPHP4 WDR19
37 asphyxiating thoracic dystrophy 9.9 IFT140 NPHP4 TRAF3IP1 TTC21B WDR19
38 bardet-biedl syndrome 15 9.8 NPHP3 TMEM67
39 cystic kidney disease 9.5 INVS NPHP1 NPHP3 NPHP4 TMEM67 XPNPEP3
40 bardet-biedl syndrome 8.9 CEP290 INVS MKS1 NPHP1 NPHP4 SDCCAG8
41 fundus dystrophy 8.8 AHI1 CEP290 IFT140 IQCB1 NPHP1 RPGR
42 meckel syndrome, type 1 8.6 AHI1 CEP290 INVS MKS1 NPHP1 NPHP4
43 bardet-biedl syndrome 13 8.5 AHI1 CEP290 INVS MKS1 NPHP3 SDCCAG8
44 leber congenital amaurosis 8.5 AHI1 CEP164 CEP290 IFT140 IQCB1 NPHP1
45 retinitis pigmentosa 8.0 AHI1 CEP290 IFT140 INVS IQCB1 NPHP1
46 joubert syndrome 1 6.5 AHI1 CEP164 CEP290 IFT140 INVS IQCB1

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 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
6 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
7 abnormality of retinal pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007703
8 cone-shaped epiphysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0010579
9 progressive visual loss 59 32 frequent (33%) Frequent (79-30%) HP:0000529
10 premature ovarian insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0008209
11 congenital hepatic fibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002612
12 abnormality of bone mineral density 59 32 occasional (7.5%) Occasional (29-5%) HP:0004348
13 nephronophthisis 59 32 frequent (33%) Frequent (79-30%) HP:0000090
14 retinal dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000556
15 stage 5 chronic kidney disease 59 32 hallmark (90%) Very frequent (99-80%) HP:0003774
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:


polyuria, polydipsia

MGI Mouse Phenotypes related to Senior-Loken Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 AHI1 CEP290 IFT140 INVS MKS1 NPHP1
2 mortality/aging MP:0010768 10.03 AHI1 CEP164 CEP290 IFT140 INVS MKS1
3 craniofacial MP:0005382 10.01 CEP290 IFT140 MKS1 NPHP3 SDCCAG8 TMEM67
4 embryo MP:0005380 9.97 IFT140 INVS MKS1 NPHP3 TMEM67 TRAF3IP1
5 nervous system MP:0003631 9.97 NPHP4 RPGR SDCCAG8 TMEM67 TRAF3IP1 TTC21B
6 limbs/digits/tail MP:0005371 9.87 IFT140 TTC21B WDR19 MKS1 SDCCAG8 TMEM67
7 renal/urinary system MP:0005367 9.7 AHI1 CEP290 IFT140 INVS MKS1 NPHP1
8 vision/eye MP:0005391 9.32 AHI1 CEP290 IFT140 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 Active, not recruiting NCT00068224

Search NIH Clinical Center for Senior-Loken Syndrome 1

Genetic Tests for Senior-Loken Syndrome 1

Genetic tests related to Senior-Loken Syndrome 1:

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

Publications for Senior-Loken Syndrome 1

Articles related to Senior-Loken Syndrome 1:

(show all 32)
# Title Authors Year
1
Senior Loken Syndrome. ( 28050464 )
2016
2
Fundus Examination Pointing to the Diagnosis of Senior-Loken Syndrome. ( 27548298 )
2016
3
Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome. ( 25987160 )
2015
4
Senior- loken syndrome - a ciliopathy. ( 25584255 )
2014
5
Acute pancreatitis: a rare complication in a patient with senior loken syndrome. ( 24702534 )
2014
6
Senior-loken syndrome with rare manifestations: a case report. ( 25610265 )
2013
7
WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. ( 23683095 )
2013
8
The Senior-Loken syndrome: Two cases from the State of Qatar. ( 23205360 )
2012
9
Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. ( 21220633 )
2011
10
Senior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian family. ( 25984213 )
2011
11
Senior-Loken syndrome in an Iranian family. ( 20587883 )
2010
12
Autofluorescence and High-Resolution OCT Findings Revealed Ciliopathy in Senior-Loken Syndrome. ( 20337316 )
2010
13
Senior-Loken syndrome in a Saudi child. ( 18445908 )
2008
14
Senior-loken syndrome complicated with severe coats disease-like exudative retinopathy. ( 25390787 )
2007
15
Senior-Loken syndrome. ( 17324998 )
2007
16
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome. ( 17617513 )
2007
17
Twins with senior-Loken syndrome. ( 17127790 )
2006
18
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior- Loken syndrome and interacts with RPGR and calmodulin. ( 15723066 )
2005
19
Cataract surgery in Senior-Loken syndrome is beneficial despite severe retinopathy. ( 12439678 )
2002
20
A Japanese child with Senior-Loken syndrome. ( 11754908 )
2001
21
Senior-Loken syndrome associated with mental retardation and microcephaly. ( 11380932 )
2001
22
Late-onset renal failure in Senior-Loken syndrome. ( 11096053 )
2000
23
Senior-Loken syndrome with unusual manifestations. ( 11229290 )
1998
24
Senior-Loken syndrome. ( 11229197 )
1997
25
Senior-Loken syndrome: revisited. ( 8008515 )
1994
26
Senior-Loken syndrome. Case reports of two siblings and association with sensorineural deafness. ( 1540564 )
1992
27
Senior-Loken syndrome (nephronophthisis and pigmentary retinopathy) associated to liver fibrosis: a family study. ( 2191234 )
1990
28
Senior-Loken syndrome: ultrastructural features of heterozygous state associated with IgM nephropathy. ( 2762350 )
1989
29
Hereditary renal and retinal dysplasia--the Senior-Loken syndrome. ( 3445397 )
1987
30
Senior-Loken syndrome (familial renal-retinal dystrophy) and Coats' disease. ( 4073180 )
1985
31
Senior-Loken syndrome. ( 618044 )
1977
32
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 487)
# Gene Variation Type Significance SNP ID Assembly Location
1 NPHP1 NPHP1, DEL deletion Pathogenic
2 NPHP1 NM_000272.3(NPHP1): c.625-3dupT duplication Uncertain significance rs200118387 GRCh38 Chromosome 2, 110165158: 110165158
3 NPHP1 NM_000272.3(NPHP1): c.625-3dupT duplication Uncertain significance rs200118387 GRCh37 Chromosome 2, 110922735: 110922735
4 CEP290 NM_025114.3(CEP290): c.4250A> G (p.Gln1417Arg) single nucleotide variant Uncertain significance rs201504946 GRCh37 Chromosome 12, 88480220: 88480220
5 CEP290 NM_025114.3(CEP290): c.4250A> G (p.Gln1417Arg) single nucleotide variant Uncertain significance rs201504946 GRCh38 Chromosome 12, 88086443: 88086443
6 IQCB1 NM_001023570.3(IQCB1): c.1178T> A (p.Ile393Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs1141528 GRCh37 Chromosome 3, 121507231: 121507231
7 IQCB1 NM_001023570.3(IQCB1): c.1178T> A (p.Ile393Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs1141528 GRCh38 Chromosome 3, 121788384: 121788384
8 NPHP1 NM_000272.3(NPHP1): c.232T> C (p.Tyr78His) single nucleotide variant Conflicting interpretations of pathogenicity rs140446520 GRCh37 Chromosome 2, 110936097: 110936097
9 NPHP1 NM_000272.3(NPHP1): c.232T> C (p.Tyr78His) single nucleotide variant Conflicting interpretations of pathogenicity rs140446520 GRCh38 Chromosome 2, 110178520: 110178520
10 CEP290 NM_025114.3(CEP290): c.6522+12dupT duplication Benign rs11405846 GRCh37 Chromosome 12, 88454595: 88454595
11 CEP290 NM_025114.3(CEP290): c.6522+12dupT duplication Benign rs11405846 GRCh38 Chromosome 12, 88060818: 88060818
12 CEP290 NM_025114.3(CEP290): c.5055G> A (p.Ala1685=) single nucleotide variant Uncertain significance rs73192874 GRCh37 Chromosome 12, 88474130: 88474130
13 CEP290 NM_025114.3(CEP290): c.5055G> A (p.Ala1685=) single nucleotide variant Uncertain significance rs73192874 GRCh38 Chromosome 12, 88080353: 88080353
14 CEP290 NM_025114.3(CEP290): c.853-12_853-11insG insertion Benign rs71082425 GRCh37 Chromosome 12, 88522823: 88522824
15 CEP290 NM_025114.3(CEP290): c.853-12_853-11insG insertion Benign rs71082425 GRCh38 Chromosome 12, 88129046: 88129047
16 NPHP4 NM_015102.4(NPHP4): c.1442-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs146078470 GRCh37 Chromosome 1, 5969280: 5969280
17 NPHP4 NM_015102.4(NPHP4): c.1442-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs146078470 GRCh38 Chromosome 1, 5909220: 5909220
18 NPHP4 NM_015102.4(NPHP4): c.2868C> T (p.Ala956=) single nucleotide variant Benign/Likely benign rs138025088 GRCh37 Chromosome 1, 5935110: 5935110
19 NPHP4 NM_015102.4(NPHP4): c.2868C> T (p.Ala956=) single nucleotide variant Benign/Likely benign rs138025088 GRCh38 Chromosome 1, 5875050: 5875050
20 SDCCAG8 NM_006642.4(SDCCAG8): c.267T> C (p.Ser89=) single nucleotide variant Conflicting interpretations of pathogenicity rs148818431 GRCh37 Chromosome 1, 243434326: 243434326
21 SDCCAG8 NM_006642.4(SDCCAG8): c.267T> C (p.Ser89=) single nucleotide variant Conflicting interpretations of pathogenicity rs148818431 GRCh38 Chromosome 1, 243271024: 243271024
22 NPHP4 NM_015102.4(NPHP4): c.4075C> T (p.Arg1359Trp) single nucleotide variant Uncertain significance rs369162678 GRCh38 Chromosome 1, 5863955: 5863955
23 NPHP4 NM_015102.4(NPHP4): c.4075C> T (p.Arg1359Trp) single nucleotide variant Uncertain significance rs369162678 GRCh37 Chromosome 1, 5924015: 5924015
24 NPHP1 NM_000272.3(NPHP1): c.1035A> G (p.Gln345=) single nucleotide variant Uncertain significance rs371112962 GRCh37 Chromosome 2, 110919267: 110919267
25 NPHP1 NM_000272.3(NPHP1): c.1035A> G (p.Gln345=) single nucleotide variant Uncertain significance rs371112962 GRCh38 Chromosome 2, 110161690: 110161690
26 NPHP4 NM_015102.4(NPHP4): c.1632C> T (p.Ala544=) single nucleotide variant Uncertain significance rs201903713 GRCh37 Chromosome 1, 5965823: 5965823
27 NPHP4 NM_015102.4(NPHP4): c.1632C> T (p.Ala544=) single nucleotide variant Uncertain significance rs201903713 GRCh38 Chromosome 1, 5905763: 5905763
28 NPHP4 NM_015102.4(NPHP4): c.1966G> A (p.Asp656Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs191602135 GRCh37 Chromosome 1, 5964854: 5964854
29 NPHP4 NM_015102.4(NPHP4): c.1966G> A (p.Asp656Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs191602135 GRCh38 Chromosome 1, 5904794: 5904794
30 NPHP4 NM_015102.4(NPHP4): c.2257G> A (p.Asp753Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs148424288 GRCh37 Chromosome 1, 5950975: 5950975
31 NPHP4 NM_015102.4(NPHP4): c.2257G> A (p.Asp753Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs148424288 GRCh38 Chromosome 1, 5890915: 5890915
32 NPHP4 NM_015102.4(NPHP4): c.2965G> A (p.Glu989Lys) single nucleotide variant Uncertain significance rs116606479 GRCh37 Chromosome 1, 5935013: 5935013
33 NPHP4 NM_015102.4(NPHP4): c.2965G> A (p.Glu989Lys) single nucleotide variant Uncertain significance rs116606479 GRCh38 Chromosome 1, 5874953: 5874953
34 CEP290 NM_025114.3(CEP290): c.3654T> C (p.Leu1218=) single nucleotide variant Conflicting interpretations of pathogenicity rs201838492 GRCh37 Chromosome 12, 88483184: 88483184
35 CEP290 NM_025114.3(CEP290): c.3654T> C (p.Leu1218=) single nucleotide variant Conflicting interpretations of pathogenicity rs201838492 GRCh38 Chromosome 12, 88089407: 88089407
36 CEP290 NM_025114.3(CEP290): c.5284C> T (p.Arg1762Cys) single nucleotide variant Uncertain significance rs373307908 GRCh37 Chromosome 12, 88472949: 88472949
37 CEP290 NM_025114.3(CEP290): c.5284C> T (p.Arg1762Cys) single nucleotide variant Uncertain significance rs373307908 GRCh38 Chromosome 12, 88079172: 88079172
38 CEP290 NM_025114.3(CEP290): c.5322C> T (p.Leu1774=) single nucleotide variant Conflicting interpretations of pathogenicity rs117370446 GRCh37 Chromosome 12, 88472911: 88472911
39 CEP290 NM_025114.3(CEP290): c.5322C> T (p.Leu1774=) single nucleotide variant Conflicting interpretations of pathogenicity rs117370446 GRCh38 Chromosome 12, 88079134: 88079134
40 NPHP1 NM_000272.3(NPHP1): c.644_646dupAAG (p.Glu215_Gly216insGlu) duplication Uncertain significance rs777677768 GRCh37 Chromosome 2, 110922711: 110922713
41 NPHP1 NM_000272.3(NPHP1): c.644_646dupAAG (p.Glu215_Gly216insGlu) duplication Uncertain significance rs777677768 GRCh38 Chromosome 2, 110165134: 110165136
42 IQCB1 NM_001023570.3(IQCB1): c.574C> T (p.Leu192=) single nucleotide variant Benign rs4543051 GRCh37 Chromosome 3, 121526204: 121526204
43 IQCB1 NM_001023570.3(IQCB1): c.574C> T (p.Leu192=) single nucleotide variant Benign rs4543051 GRCh38 Chromosome 3, 121807357: 121807357
44 NPHP1 NM_000272.3(NPHP1): c.830G> A (p.Arg277Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143174377 GRCh37 Chromosome 2, 110922206: 110922206
45 NPHP1 NM_000272.3(NPHP1): c.830G> A (p.Arg277Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs143174377 GRCh38 Chromosome 2, 110164629: 110164629
46 NPHP4 NM_015102.4(NPHP4): c.4114C> T (p.Leu1372=) single nucleotide variant Conflicting interpretations of pathogenicity rs374146357 GRCh37 Chromosome 1, 5923976: 5923976
47 NPHP4 NM_015102.4(NPHP4): c.4114C> T (p.Leu1372=) single nucleotide variant Conflicting interpretations of pathogenicity rs374146357 GRCh38 Chromosome 1, 5863916: 5863916
48 NPHP4 NM_015102.4(NPHP4): c.1490C> G (p.Pro497Arg) single nucleotide variant Benign/Likely benign rs375051705 GRCh37 Chromosome 1, 5969225: 5969225
49 NPHP4 NM_015102.4(NPHP4): c.1490C> G (p.Pro497Arg) single nucleotide variant Benign/Likely benign rs375051705 GRCh38 Chromosome 1, 5909165: 5909165
50 IQCB1 NM_001023570.3(IQCB1): c.1549A> T (p.Asn517Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs139468837 GRCh38 Chromosome 3, 121772575: 121772575

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 cell-cell junction GO:0005911 9.86 AHI1 NPHP1 NPHP4 SDCCAG8
4 cytoskeleton GO:0005856 9.86 AHI1 CEP164 CEP290 IFT140 INVS IQCB1
5 photoreceptor connecting cilium GO:0032391 9.85 CEP290 IFT140 IQCB1 NPHP1 NPHP4 WDR19
6 photoreceptor outer segment GO:0001750 9.84 IFT140 IQCB1 RPGR WDR19
7 ciliary tip GO:0097542 9.81 IFT140 TRAF3IP1 TTC21B WDR19
8 MKS complex GO:0036038 9.8 AHI1 CEP290 MKS1 TMEM216 TMEM67
9 ciliary transition zone GO:0035869 9.8 CEP290 MKS1 NPHP4 TMEM216 TMEM67 TRAF3IP1
10 non-motile cilium GO:0097730 9.78 AHI1 IFT140 NPHP4 WDR19
11 intraciliary transport particle A GO:0030991 9.67 IFT140 TTC21B WDR19
12 ciliary base GO:0097546 9.58 NPHP4 TRAF3IP1
13 centriolar satellite GO:0034451 9.57 CEP290 SDCCAG8
14 cilium GO:0005929 9.47 AHI1 CEP290 IFT140 INVS MKS1 NPHP1
15 cytoplasm GO:0005737 10.45 AHI1 CEP164 CEP290 IFT140 INVS IQCB1
16 centrosome GO:0005813 10.03 AHI1 CEP164 CEP290 IFT140 IQCB1 MKS1
17 microtubule organizing center GO:0005815 10.02 CEP290 IFT140 IQCB1 MKS1 NPHP4 RPGR
18 cell projection GO:0042995 10 AHI1 CEP290 IFT140 INVS MKS1 NPHP1

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 cell projection organization GO:0030030 9.93 AHI1 CEP164 CEP290 IFT140 IQCB1 MKS1
2 G2/M transition of mitotic cell cycle GO:0000086 9.79 CEP164 CEP290 SDCCAG8
3 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.78 CEP164 CEP290 SDCCAG8
4 determination of left/right symmetry GO:0007368 9.77 IFT140 MKS1 NPHP3
5 retina development in camera-type eye GO:0060041 9.76 IFT140 NPHP1 NPHP4
6 embryonic digit morphogenesis GO:0042733 9.75 IFT140 MKS1 TRAF3IP1
7 cilium assembly GO:0060271 9.73 AHI1 CEP164 CEP290 IFT140 IQCB1 MKS1
8 non-motile cilium assembly GO:1905515 9.72 IFT140 MKS1 TMEM216
9 photoreceptor cell maintenance GO:0045494 9.69 IQCB1 NPHP3 NPHP4
10 regulation of smoothened signaling pathway GO:0008589 9.63 IFT140 MKS1 TTC21B
11 protein localization to cilium GO:0061512 9.62 IFT140 TTC21B
12 hindbrain development GO:0030902 9.61 AHI1 CEP290
13 intraciliary transport GO:0042073 9.61 IFT140 RPGR TRAF3IP1
14 embryonic brain development GO:1990403 9.6 IFT140 MKS1
15 embryonic camera-type eye development GO:0031076 9.58 IFT140 TRAF3IP1 WDR19
16 neural tube patterning GO:0021532 9.57 IFT140 TRAF3IP1
17 maintenance of animal organ identity GO:0048496 9.56 IQCB1 NPHP3
18 intraciliary transport involved in cilium assembly GO:0035735 9.56 IFT140 TRAF3IP1 TTC21B WDR19
19 morphogenesis of a polarized epithelium GO:0001738 9.54 AHI1 TRAF3IP1
20 photoreceptor cell outer segment organization GO:0035845 9.54 AHI1 IFT140 NPHP4
21 visual behavior GO:0007632 9.52 NPHP1 NPHP4
22 intraciliary retrograde transport GO:0035721 9.5 IFT140 TTC21B WDR19
23 positive regulation of bicellular tight junction assembly GO:1903348 9.49 NPHP1 NPHP4
24 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.48 MKS1 NPHP3
25 ciliary basal body-plasma membrane docking GO:0097711 9.32 AHI1 CEP164 CEP290 IQCB1 MKS1 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 9.58 AHI1 CEP164 CEP290 IFT140 INVS IQCB1

Sources for Senior-Loken Syndrome 1

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