SLSN6
MCID: SNR006
MIFTS: 21

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 57 74 29 13 6 72
Slsn6 57 74
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:



External Ids:

MedGen 42 C1857779
UMLS 72 C1857779

Summaries for Senior-Loken Syndrome 6

UniProtKB/Swiss-Prot : 74 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

More information from OMIM: 610189 PS266900

Related Diseases for Senior-Loken Syndrome 6

Symptoms & Phenotypes for Senior-Loken Syndrome 6

Human phenotypes related to Senior-Loken Syndrome 6:

32
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 reduced visual acuity 32 HP:0007663
3 abnormality of the nervous system 32 HP:0000707
4 rod-cone dystrophy 32 HP:0000510
5 stage 5 chronic kidney disease 32 HP:0003774

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

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

Articles related to Senior-Loken Syndrome 6:

# Title Authors PMID Year
1
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. 8 71
16682973 2006

Variations for Senior-Loken Syndrome 6

ClinVar genetic disease variations for Senior-Loken Syndrome 6:

6 (show all 22)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CEP290 NM_025114.3(CEP290): c.1078C> T (p.Arg360Ter) single nucleotide variant Pathogenic rs776645403 12:88519134-88519134 12:88125357-88125357
2 CEP290 NM_025114.3(CEP290): c.5668G> T (p.Gly1890Ter) single nucleotide variant Pathogenic rs137852832 12:88471040-88471040 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 12:88494960-88494960 12:88101183-88101183
5 CEP290 NM_025114.3(CEP290): c.4723A> T (p.Lys1575Ter) single nucleotide variant Pathogenic rs137852834 12:88477713-88477713 12:88083936-88083936
6 CEP290 NM_025114.3(CEP290): c.1066-1G> A single nucleotide variant Pathogenic rs965522059 12:88519147-88519147 12:88125370-88125370
7 CEP290 NM_025114.3(CEP290): c.5344C> T (p.Arg1782Ter) single nucleotide variant Pathogenic rs575767207 12:88472889-88472889 12:88079112-88079112
8 CEP290 NM_025114.3(CEP290): c.4882C> T (p.Gln1628Ter) single nucleotide variant Pathogenic rs376493409 12:88476938-88476938 12:88083161-88083161
9 CEP290 NM_025114.3(CEP290): c.4393C> T (p.Arg1465Ter) single nucleotide variant Pathogenic rs539400286 12:88479860-88479860 12:88086083-88086083
10 CEP290 NM_025114.3(CEP290): c.1429C> T (p.Arg477Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1170451277 12:88513984-88513984 12:88120207-88120207
11 CEP290 NM_025114.3(CEP290): c.4243G> T (p.Glu1415Ter) single nucleotide variant Likely pathogenic rs797044604 12:88480227-88480227 12:88086450-88086450
12 CEP290 NM_025114.3(CEP290): c.4437+1G> A single nucleotide variant Conflicting interpretations of pathogenicity rs760915898 12:88479815-88479815 12:88086038-88086038
13 CEP290 NM_025114.3(CEP290): c.963T> A (p.Asp321Glu) single nucleotide variant Uncertain significance rs774072453 12:88520195-88520195 12:88126418-88126418
14 CEP290 NM_025114.3(CEP290): c.4938A> G (p.Lys1646=) single nucleotide variant Uncertain significance rs371582975 12:88476882-88476882 12:88083105-88083105
15 CEP290 NM_025114.3(CEP290): c.2551G> A (p.Val851Ile) single nucleotide variant Uncertain significance rs764963626 12:88500808-88500808 12:88107031-88107031
16 CEP290 NM_025114.3(CEP290): c.5998A> G (p.Ile2000Val) single nucleotide variant Uncertain significance rs183071230 12:88465084-88465084 12:88071307-88071307
17 CEP290 NM_025114.3(CEP290): c.6392A> G (p.Glu2131Gly) single nucleotide variant Uncertain significance rs184323010 12:88454737-88454737 12:88060960-88060960
18 CEP290 NM_025114.3(CEP290): c.6629G> A (p.Arg2210His) single nucleotide variant Uncertain significance rs371833544 12:88453691-88453691 12:88059914-88059914
19 CEP290 NM_025114.3(CEP290): c.1670G> A (p.Arg557His) single nucleotide variant Uncertain significance rs184018899 12:88512301-88512301 12:88118524-88118524
20 CEP290 NM_025114.3(CEP290): c.4250A> G (p.Gln1417Arg) single nucleotide variant Uncertain significance rs201504946 12:88480220-88480220 12:88086443-88086443
21 CEP290 NM_025114.3(CEP290): c.3660G> T (p.Lys1220Asn) single nucleotide variant Uncertain significance rs201982308 12:88483178-88483178 12:88089401-88089401
22 CEP290 NM_025114.3(CEP290): c.5284C> T (p.Arg1762Cys) single nucleotide variant Uncertain significance rs373307908 12:88472949-88472949 12:88079172-88079172

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

74
# Symbol AA change Variation ID SNP ID
1 CEP290 p.Trp7Cys VAR_028356 rs62635288

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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46 MGI
49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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