SLSN6
MCID: SNR006
MIFTS: 18

Senior-Loken Syndrome 6 (SLSN6)

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

Aliases & Classifications for Senior-Loken Syndrome 6

MalaCards integrated aliases for Senior-Loken Syndrome 6:

Name: Senior-Loken Syndrome 6 58 76 30 13 6 74
Slsn6 58 76
Senior-Loken Syndrome, Type 6 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
allelic to joubert syndrome 5 and leber congenital amaurosis type x


HPO:

33
senior-loken syndrome 6:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Senior-Loken Syndrome 6

UniProtKB/Swiss-Prot : 76 Senior-Loken syndrome 6: 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.

MalaCards based summary : Senior-Loken Syndrome 6, is also known as slsn6. An important gene associated with Senior-Loken Syndrome 6 is CEP290 (Centrosomal Protein 290). Affiliated tissues include kidney and eye, and related phenotypes are visual impairment and reduced visual acuity

Description from OMIM: 610189

Related Diseases for Senior-Loken Syndrome 6

Symptoms & Phenotypes for Senior-Loken Syndrome 6

Human phenotypes related to Senior-Loken Syndrome 6:

33
# Description HPO Frequency HPO Source Accession
1 visual impairment 33 HP:0000505
2 reduced visual acuity 33 HP:0007663
3 abnormality of the nervous system 33 HP:0000707
4 rod-cone dystrophy 33 HP:0000510
5 stage 5 chronic kidney disease 33 HP:0003774

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
tapetoretinal degeneration
decreased visual acuity

Neurologic Central Nervous System:
no cerebellar vermis aplasia/hypoplasia

Genitourinary Kidneys:
end stage renal disease

Clinical features from OMIM:

610189

Drugs & Therapeutics for Senior-Loken Syndrome 6

Search Clinical Trials , NIH Clinical Center for Senior-Loken Syndrome 6

Genetic Tests for Senior-Loken Syndrome 6

Genetic tests related to Senior-Loken Syndrome 6:

# Genetic test Affiliating Genes
1 Senior-Loken Syndrome 6 30 CEP290

Anatomical Context for Senior-Loken Syndrome 6

MalaCards organs/tissues related to Senior-Loken Syndrome 6:

42
Kidney, Eye

Publications for Senior-Loken Syndrome 6

Articles related to Senior-Loken Syndrome 6:

# Title Authors Year
1
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. ( 16682973 )
2006

Variations for Senior-Loken Syndrome 6

UniProtKB/Swiss-Prot genetic disease variations for Senior-Loken Syndrome 6:

76
# Symbol AA change Variation ID SNP ID
1 CEP290 p.Trp7Cys VAR_028356 rs62635288

ClinVar genetic disease variations for Senior-Loken Syndrome 6:

6 (show top 50) (show all 79)
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh37 Chromosome 12, 88471040: 88471040
2 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 GRCh38 Chromosome 12, 88077263: 88077263
3 CEP290 CEP290, 5-BP DEL deletion Pathogenic
4 CEP290 NM_025114.3(CEP290): c.2991+1655A> G single nucleotide variant Pathogenic rs281865192 GRCh37 Chromosome 12, 88494960: 88494960
5 CEP290 NM_025114.3(CEP290): c.2991+1655A> G single nucleotide variant Pathogenic rs281865192 GRCh38 Chromosome 12, 88101183: 88101183
6 CEP290 NM_025114.3(CEP290): c.4723A> T (p.Lys1575Ter) single nucleotide variant Pathogenic rs137852834 GRCh37 Chromosome 12, 88477713: 88477713
7 CEP290 NM_025114.3(CEP290): c.4723A> T (p.Lys1575Ter) single nucleotide variant Pathogenic rs137852834 GRCh38 Chromosome 12, 88083936: 88083936
8 CEP290 NM_025114.3(CEP290): c.5493delA (p.Ala1832Profs) deletion Pathogenic rs386834158 GRCh37 Chromosome 12, 88471567: 88471567
9 CEP290 NM_025114.3(CEP290): c.5493delA (p.Ala1832Profs) deletion Pathogenic rs386834158 GRCh38 Chromosome 12, 88077790: 88077790
10 CEP290 NM_025114.3(CEP290): c.4250A> G (p.Gln1417Arg) single nucleotide variant Uncertain significance rs201504946 GRCh37 Chromosome 12, 88480220: 88480220
11 CEP290 NM_025114.3(CEP290): c.4250A> G (p.Gln1417Arg) single nucleotide variant Uncertain significance rs201504946 GRCh38 Chromosome 12, 88086443: 88086443
12 CEP290 NM_025114.3(CEP290): c.5611_5614delCAAA (p.Gln1871Valfs) deletion Pathogenic rs727503853 GRCh37 Chromosome 12, 88471094: 88471097
13 CEP290 NM_025114.3(CEP290): c.5611_5614delCAAA (p.Gln1871Valfs) deletion Pathogenic rs727503853 GRCh38 Chromosome 12, 88077317: 88077320
14 CEP290 NM_025114.3(CEP290): c.1665_1666delAA (p.Lys555Asnfs) deletion Pathogenic rs727503855 GRCh37 Chromosome 12, 88512305: 88512306
15 CEP290 NM_025114.3(CEP290): c.1665_1666delAA (p.Lys555Asnfs) deletion Pathogenic rs727503855 GRCh38 Chromosome 12, 88118528: 88118529
16 CEP290 NM_025114.3(CEP290): c.1860_1863delAAGA (p.Arg621Ilefs) deletion Pathogenic rs766608755 GRCh37 Chromosome 12, 88508921: 88508924
17 CEP290 NM_025114.3(CEP290): c.1860_1863delAAGA (p.Arg621Ilefs) deletion Pathogenic rs766608755 GRCh38 Chromosome 12, 88115144: 88115147
18 CEP290 NM_025114.3(CEP290): c.3660G> T (p.Lys1220Asn) single nucleotide variant Uncertain significance rs201982308 GRCh37 Chromosome 12, 88483178: 88483178
19 CEP290 NM_025114.3(CEP290): c.3660G> T (p.Lys1220Asn) single nucleotide variant Uncertain significance rs201982308 GRCh38 Chromosome 12, 88089401: 88089401
20 CEP290 NM_025114.3(CEP290): c.5182G> T (p.Glu1728Ter) single nucleotide variant Pathogenic rs370119681 GRCh37 Chromosome 12, 88474003: 88474003
21 CEP290 NM_025114.3(CEP290): c.5182G> T (p.Glu1728Ter) single nucleotide variant Pathogenic rs370119681 GRCh38 Chromosome 12, 88080226: 88080226
22 CEP290 NM_025114.3(CEP290): c.5284C> T (p.Arg1762Cys) single nucleotide variant Uncertain significance rs373307908 GRCh37 Chromosome 12, 88472949: 88472949
23 CEP290 NM_025114.3(CEP290): c.5284C> T (p.Arg1762Cys) single nucleotide variant Uncertain significance rs373307908 GRCh38 Chromosome 12, 88079172: 88079172
24 CEP290 NM_025114.3(CEP290): c.6604delA (p.Ile2202Leufs) deletion Pathogenic rs758329611 GRCh37 Chromosome 12, 88453716: 88453716
25 CEP290 NM_025114.3(CEP290): c.6604delA (p.Ile2202Leufs) deletion Pathogenic rs758329611 GRCh38 Chromosome 12, 88059939: 88059939
26 CEP290 NM_025114.3(CEP290): c.4243G> T (p.Glu1415Ter) single nucleotide variant Likely pathogenic rs797044604 GRCh38 Chromosome 12, 88086450: 88086450
27 CEP290 NM_025114.3(CEP290): c.4243G> T (p.Glu1415Ter) single nucleotide variant Likely pathogenic rs797044604 GRCh37 Chromosome 12, 88480227: 88480227
28 CEP290 NM_025114.3(CEP290): c.5344C> T (p.Arg1782Ter) single nucleotide variant Pathogenic rs575767207 GRCh37 Chromosome 12, 88472889: 88472889
29 CEP290 NM_025114.3(CEP290): c.5344C> T (p.Arg1782Ter) single nucleotide variant Pathogenic rs575767207 GRCh38 Chromosome 12, 88079112: 88079112
30 CEP290 NM_025114.3(CEP290): c.4882C> T (p.Gln1628Ter) single nucleotide variant Pathogenic rs376493409 GRCh38 Chromosome 12, 88083161: 88083161
31 CEP290 NM_025114.3(CEP290): c.4882C> T (p.Gln1628Ter) single nucleotide variant Pathogenic rs376493409 GRCh37 Chromosome 12, 88476938: 88476938
32 CEP290 NM_025114.3(CEP290): c.4393C> T (p.Arg1465Ter) single nucleotide variant Pathogenic rs539400286 GRCh37 Chromosome 12, 88479860: 88479860
33 CEP290 NM_025114.3(CEP290): c.4393C> T (p.Arg1465Ter) single nucleotide variant Pathogenic rs539400286 GRCh38 Chromosome 12, 88086083: 88086083
34 CEP290 NM_025114.3(CEP290): c.2052+1_2052+2delGT deletion Pathogenic rs747835249 GRCh37 Chromosome 12, 88508195: 88508196
35 CEP290 NM_025114.3(CEP290): c.2052+1_2052+2delGT deletion Pathogenic rs747835249 GRCh38 Chromosome 12, 88114418: 88114419
36 CEP290 NM_025114.3(CEP290): c.4938A> G (p.Lys1646=) single nucleotide variant Uncertain significance rs371582975 GRCh37 Chromosome 12, 88476882: 88476882
37 CEP290 NM_025114.3(CEP290): c.4938A> G (p.Lys1646=) single nucleotide variant Uncertain significance rs371582975 GRCh38 Chromosome 12, 88083105: 88083105
38 CEP290 NM_025114.3(CEP290): c.2551G> A (p.Val851Ile) single nucleotide variant Uncertain significance rs764963626 GRCh37 Chromosome 12, 88500808: 88500808
39 CEP290 NM_025114.3(CEP290): c.2551G> A (p.Val851Ile) single nucleotide variant Uncertain significance rs764963626 GRCh38 Chromosome 12, 88107031: 88107031
40 CEP290 NM_025114.3(CEP290): c.5998A> G (p.Ile2000Val) single nucleotide variant Uncertain significance rs183071230 GRCh37 Chromosome 12, 88465084: 88465084
41 CEP290 NM_025114.3(CEP290): c.5998A> G (p.Ile2000Val) single nucleotide variant Uncertain significance rs183071230 GRCh38 Chromosome 12, 88071307: 88071307
42 CEP290 NM_025114.3(CEP290): c.2722C> T (p.Arg908Ter) single nucleotide variant Pathogenic rs886042153 GRCh37 Chromosome 12, 88500547: 88500547
43 CEP290 NM_025114.3(CEP290): c.2722C> T (p.Arg908Ter) single nucleotide variant Pathogenic rs886042153 GRCh38 Chromosome 12, 88106770: 88106770
44 CEP290 NM_025114.3(CEP290): c.181-2A> G single nucleotide variant Pathogenic rs886042359 GRCh37 Chromosome 12, 88533343: 88533343
45 CEP290 NM_025114.3(CEP290): c.181-2A> G single nucleotide variant Pathogenic rs886042359 GRCh38 Chromosome 12, 88139566: 88139566
46 CEP290 NM_025114.3(CEP290): c.5803G> T (p.Glu1935Ter) single nucleotide variant Pathogenic rs886042360 GRCh37 Chromosome 12, 88465610: 88465610
47 CEP290 NM_025114.3(CEP290): c.5803G> T (p.Glu1935Ter) single nucleotide variant Pathogenic rs886042360 GRCh38 Chromosome 12, 88071833: 88071833
48 CEP290 NM_025114.3(CEP290): c.7062_7063delGA (p.Lys2355Serfs) deletion Pathogenic rs886042734 GRCh37 Chromosome 12, 88447495: 88447496
49 CEP290 NM_025114.3(CEP290): c.7062_7063delGA (p.Lys2355Serfs) deletion Pathogenic rs886042734 GRCh38 Chromosome 12, 88053718: 88053719
50 CEP290 NM_025114.3(CEP290): c.4437+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs760915898 GRCh37 Chromosome 12, 88479815: 88479815

Expression for Senior-Loken Syndrome 6

Search GEO for disease gene expression data for Senior-Loken Syndrome 6.

Pathways for Senior-Loken Syndrome 6

GO Terms for Senior-Loken Syndrome 6

Sources for Senior-Loken Syndrome 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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