SLSN6
MCID: SNR006
MIFTS: 22

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 56 73 29 13 6 71
Slsn6 56 73
Senior-Loken Syndrome, Type 6 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
senior-loken syndrome 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 610189
OMIM Phenotypic Series 56 PS266900
MedGen 41 C1857779
UMLS 71 C1857779

Summaries for Senior-Loken Syndrome 6

UniProtKB/Swiss-Prot : 73 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 eye and kidney, and related phenotypes are abnormality of the nervous system and rod-cone dystrophy

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:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the nervous system 31 HP:0000707
2 rod-cone dystrophy 31 HP:0000510
3 visual impairment 31 HP:0000505
4 reduced visual acuity 31 HP:0007663
5 stage 5 chronic kidney disease 31 HP:0003774

Symptoms via clinical synopsis from OMIM:

56
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:

40
Eye, Kidney

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. 56 6
16682973 2006

Variations for Senior-Loken Syndrome 6

ClinVar genetic disease variations for Senior-Loken Syndrome 6:

6 (show all 23) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP290 NM_025114.3(CEP290):c.5344C>T (p.Arg1782Ter)SNV Pathogenic 217636 rs575767207 12:88472889-88472889 12:88079112-88079112
2 CEP290 NM_025114.3(CEP290):c.4882C>T (p.Gln1628Ter)SNV Pathogenic 217635 rs376493409 12:88476938-88476938 12:88083161-88083161
3 CEP290 NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter)SNV Pathogenic 217626 rs539400286 12:88479860-88479860 12:88086083-88086083
4 CEP290 NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter)SNV Pathogenic 1333 rs137852832 12:88471040-88471040 12:88077263-88077263
5 CEP290 CEP290, 5-BP DELdeletion Pathogenic 1336
6 CEP290 NM_025114.3(CEP290):c.2991+1655A>GSNV Pathogenic 1337 rs281865192 12:88494960-88494960 12:88101183-88101183
7 CEP290 NM_025114.3(CEP290):c.4723A>T (p.Lys1575Ter)SNV Pathogenic 1339 rs137852834 12:88477713-88477713 12:88083936-88083936
8 CEP290 NM_025114.3(CEP290):c.1066-1G>ASNV Pathogenic 439474 rs965522059 12:88519147-88519147 12:88125370-88125370
9 CEP290 NM_025114.3(CEP290):c.1078C>T (p.Arg360Ter)SNV Pathogenic 530911 rs776645403 12:88519134-88519134 12:88125357-88125357
10 CEP290 NM_025114.3(CEP290):c.1429C>T (p.Arg477Ter)SNV Pathogenic/Likely pathogenic 523768 rs1170451277 12:88513984-88513984 12:88120207-88120207
11 CEP290 NM_025114.3(CEP290):c.4243G>T (p.Glu1415Ter)SNV Likely pathogenic 212730 rs797044604 12:88480227-88480227 12:88086450-88086450
12 CEP290 NM_025114.4(CEP290):c.732_733AG[1] (p.Glu245fs)short repeat Likely pathogenic 804466 12:88523588-88523589 12:88129811-88129812
13 CEP290 NM_025114.3(CEP290):c.4437+1G>ASNV Conflicting interpretations of pathogenicity 285948 rs760915898 12:88479815-88479815 12:88086038-88086038
14 CEP290 NM_025114.3(CEP290):c.963T>A (p.Asp321Glu)SNV Uncertain significance 286797 rs774072453 12:88520195-88520195 12:88126418-88126418
15 CEP290 NM_025114.3(CEP290):c.6629G>A (p.Arg2210His)SNV Uncertain significance 377291 rs371833544 12:88453691-88453691 12:88059914-88059914
16 CEP290 NM_025114.3(CEP290):c.1670G>A (p.Arg557His)SNV Uncertain significance 418122 rs184018899 12:88512301-88512301 12:88118524-88118524
17 CEP290 NM_025114.3(CEP290):c.6392A>G (p.Glu2131Gly)SNV Uncertain significance 461788 rs184323010 12:88454737-88454737 12:88060960-88060960
18 CEP290 NM_025114.3(CEP290):c.4250A>G (p.Gln1417Arg)SNV Uncertain significance 166835 rs201504946 12:88480220-88480220 12:88086443-88086443
19 CEP290 NM_025114.3(CEP290):c.3660G>T (p.Lys1220Asn)SNV Uncertain significance 196713 rs201982308 12:88483178-88483178 12:88089401-88089401
20 CEP290 NM_025114.3(CEP290):c.5284C>T (p.Arg1762Cys)SNV Uncertain significance 197084 rs373307908 12:88472949-88472949 12:88079172-88079172
21 CEP290 NM_025114.3(CEP290):c.4938A>G (p.Lys1646=)SNV Uncertain significance 241585 rs371582975 12:88476882-88476882 12:88083105-88083105
22 CEP290 NM_025114.3(CEP290):c.2551G>A (p.Val851Ile)SNV Uncertain significance 241583 rs764963626 12:88500808-88500808 12:88107031-88107031
23 CEP290 NM_025114.3(CEP290):c.5998A>G (p.Ile2000Val)SNV Uncertain significance 281249 rs183071230 12:88465084-88465084 12:88071307-88071307

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

73
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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