MCID: SNR006
MIFTS: 18

Senior-Loken Syndrome 6

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

Aliases & Classifications for Senior-Loken Syndrome 6

MalaCards integrated aliases for Senior-Loken Syndrome 6:

Name: Senior-Loken Syndrome 6 57 75 29 13 6 73
Slsn6 57 75
Senior-Loken Syndrome, Type 6 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
senior-loken syndrome 6:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Senior-Loken Syndrome 6

UniProtKB/Swiss-Prot : 75 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 tapetoretinal degeneration

Description from OMIM: 610189

Related Diseases for Senior-Loken Syndrome 6

Symptoms & Phenotypes for Senior-Loken Syndrome 6

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Senior-Loken Syndrome 6:

32
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 tapetoretinal degeneration 32 HP:0000547
3 abnormality of the nervous system 32 HP:0000707
4 stage 5 chronic kidney disease 32 HP:0003774
5 reduced visual acuity 32 HP:0007663

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 29 CEP290

Anatomical Context for Senior-Loken Syndrome 6

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

41
Kidney, Eye

Publications for Senior-Loken Syndrome 6

Variations for Senior-Loken Syndrome 6

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

75
# 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 53)
# 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.5493delA (p.Ala1832Profs) deletion Pathogenic rs386834158 GRCh37 Chromosome 12, 88471567: 88471567
7 CEP290 NM_025114.3(CEP290): c.5493delA (p.Ala1832Profs) deletion Pathogenic rs386834158 GRCh38 Chromosome 12, 88077790: 88077790
8 CEP290 NM_025114.3(CEP290): c.5611_5614delCAAA (p.Gln1871Valfs) deletion Pathogenic rs727503853 GRCh37 Chromosome 12, 88471094: 88471097
9 CEP290 NM_025114.3(CEP290): c.5611_5614delCAAA (p.Gln1871Valfs) deletion Pathogenic rs727503853 GRCh38 Chromosome 12, 88077317: 88077320
10 CEP290 NM_025114.3(CEP290): c.1665_1666delAA (p.Lys555Asnfs) deletion Pathogenic rs727503855 GRCh37 Chromosome 12, 88512305: 88512306
11 CEP290 NM_025114.3(CEP290): c.1665_1666delAA (p.Lys555Asnfs) deletion Pathogenic rs727503855 GRCh38 Chromosome 12, 88118528: 88118529
12 CEP290 NM_025114.3(CEP290): c.1860_1863delAAGA (p.Arg621Ilefs) deletion Pathogenic rs766608755 GRCh37 Chromosome 12, 88508921: 88508924
13 CEP290 NM_025114.3(CEP290): c.1860_1863delAAGA (p.Arg621Ilefs) deletion Pathogenic rs766608755 GRCh38 Chromosome 12, 88115144: 88115147
14 CEP290 NM_025114.3(CEP290): c.5182G> T (p.Glu1728Ter) single nucleotide variant Pathogenic rs370119681 GRCh37 Chromosome 12, 88474003: 88474003
15 CEP290 NM_025114.3(CEP290): c.5182G> T (p.Glu1728Ter) single nucleotide variant Pathogenic rs370119681 GRCh38 Chromosome 12, 88080226: 88080226
16 CEP290 NM_025114.3(CEP290): c.6604delA (p.Ile2202Leufs) deletion Pathogenic rs758329611 GRCh37 Chromosome 12, 88453716: 88453716
17 CEP290 NM_025114.3(CEP290): c.6604delA (p.Ile2202Leufs) deletion Pathogenic rs758329611 GRCh38 Chromosome 12, 88059939: 88059939
18 CEP290 NM_025114.3(CEP290): c.4243G> T (p.Glu1415Ter) single nucleotide variant Likely pathogenic rs797044604 GRCh38 Chromosome 12, 88086450: 88086450
19 CEP290 NM_025114.3(CEP290): c.4243G> T (p.Glu1415Ter) single nucleotide variant Likely pathogenic rs797044604 GRCh37 Chromosome 12, 88480227: 88480227
20 CEP290 NM_025114.3(CEP290): c.5932C> T (p.Arg1978Ter) single nucleotide variant Pathogenic rs371525247 GRCh37 Chromosome 12, 88465150: 88465150
21 CEP290 NM_025114.3(CEP290): c.5932C> T (p.Arg1978Ter) single nucleotide variant Pathogenic rs371525247 GRCh38 Chromosome 12, 88071373: 88071373
22 CEP290 NM_025114.3(CEP290): c.4522C> T (p.Arg1508Ter) single nucleotide variant Pathogenic rs749439750 GRCh37 Chromosome 12, 88478545: 88478545
23 CEP290 NM_025114.3(CEP290): c.4522C> T (p.Arg1508Ter) single nucleotide variant Pathogenic rs749439750 GRCh38 Chromosome 12, 88084768: 88084768
24 CEP290 NM_025114.3(CEP290): c.2052+1_2052+2delGT deletion Pathogenic rs747835249 GRCh37 Chromosome 12, 88508195: 88508196
25 CEP290 NM_025114.3(CEP290): c.2052+1_2052+2delGT deletion Pathogenic rs747835249 GRCh38 Chromosome 12, 88114418: 88114419
26 CEP290 NM_025114.3(CEP290): c.2722C> T (p.Arg908Ter) single nucleotide variant Pathogenic rs886042153 GRCh37 Chromosome 12, 88500547: 88500547
27 CEP290 NM_025114.3(CEP290): c.2722C> T (p.Arg908Ter) single nucleotide variant Pathogenic rs886042153 GRCh38 Chromosome 12, 88106770: 88106770
28 CEP290 NM_025114.3(CEP290): c.181-2A> G single nucleotide variant Pathogenic rs886042359 GRCh37 Chromosome 12, 88533343: 88533343
29 CEP290 NM_025114.3(CEP290): c.181-2A> G single nucleotide variant Pathogenic rs886042359 GRCh38 Chromosome 12, 88139566: 88139566
30 CEP290 NM_025114.3(CEP290): c.5803G> T (p.Glu1935Ter) single nucleotide variant Pathogenic rs886042360 GRCh37 Chromosome 12, 88465610: 88465610
31 CEP290 NM_025114.3(CEP290): c.5803G> T (p.Glu1935Ter) single nucleotide variant Pathogenic rs886042360 GRCh38 Chromosome 12, 88071833: 88071833
32 CEP290 NM_025114.3(CEP290): c.7062_7063delGA (p.Lys2355Serfs) deletion Pathogenic rs886042734 GRCh37 Chromosome 12, 88447495: 88447496
33 CEP290 NM_025114.3(CEP290): c.7062_7063delGA (p.Lys2355Serfs) deletion Pathogenic rs886042734 GRCh38 Chromosome 12, 88053718: 88053719
34 CEP290 NM_025114.3(CEP290): c.4437+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs760915898 GRCh37 Chromosome 12, 88479815: 88479815
35 CEP290 NM_025114.3(CEP290): c.4437+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs760915898 GRCh38 Chromosome 12, 88086038: 88086038
36 CEP290 NM_025114.3(CEP290): c.1512_1515delAGAG (p.Arg504Serfs) deletion Pathogenic rs886043303 GRCh37 Chromosome 12, 88513898: 88513901
37 CEP290 NM_025114.3(CEP290): c.1512_1515delAGAG (p.Arg504Serfs) deletion Pathogenic rs886043303 GRCh38 Chromosome 12, 88120121: 88120124
38 CEP290 NM_025114.3(CEP290): c.2668C> T (p.Gln890Ter) single nucleotide variant Pathogenic rs886044332 GRCh37 Chromosome 12, 88500601: 88500601
39 CEP290 NM_025114.3(CEP290): c.2668C> T (p.Gln890Ter) single nucleotide variant Pathogenic rs886044332 GRCh38 Chromosome 12, 88106824: 88106824
40 CEP290 NM_025114.3(CEP290): c.6645+1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201218801 GRCh37 Chromosome 12, 88453674: 88453674
41 CEP290 NM_025114.3(CEP290): c.6645+1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201218801 GRCh38 Chromosome 12, 88059897: 88059897
42 CEP290 NM_025114.3(CEP290): c.4813-2A> G single nucleotide variant Likely pathogenic rs369523378 GRCh37 Chromosome 12, 88477009: 88477009
43 CEP290 NM_025114.3(CEP290): c.4813-2A> G single nucleotide variant Likely pathogenic rs369523378 GRCh38 Chromosome 12, 88083232: 88083232
44 CEP290 NM_025114.3(CEP290): c.1915G> T (p.Glu639Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 12, 88114557: 88114557
45 CEP290 NM_025114.3(CEP290): c.1915G> T (p.Glu639Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 12, 88508334: 88508334
46 CEP290 NM_025114.3(CEP290): c.437delA (p.Glu146Glyfs) deletion Pathogenic GRCh37 Chromosome 12, 88530424: 88530424
47 CEP290 NM_025114.3(CEP290): c.437delA (p.Glu146Glyfs) deletion Pathogenic GRCh38 Chromosome 12, 88136647: 88136647
48 CEP290 NM_025114.3(CEP290): c.5012+2T> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 12, 88476806: 88476806
49 CEP290 NM_025114.3(CEP290): c.5012+2T> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 12, 88083029: 88083029
50 CEP290 NM_025114.3(CEP290): c.6798G> A (p.Trp2266Ter) single nucleotide variant Pathogenic rs760540562 GRCh37 Chromosome 12, 88452645: 88452645

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

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