SLSN3
MCID: SNR011
MIFTS: 22

Senior-Loken Syndrome 3 (SLSN3)

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

Aliases & Classifications for Senior-Loken Syndrome 3

MalaCards integrated aliases for Senior-Loken Syndrome 3:

Name: Senior-Loken Syndrome 3 56 29 13 6 71
Slsn3 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
senior-loken syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 606995
OMIM Phenotypic Series 56 PS266900
MedGen 41 C1846980
UMLS 71 C1846980

Summaries for Senior-Loken Syndrome 3

MalaCards based summary : Senior-Loken Syndrome 3, also known as slsn3, is related to senior-loken syndrome 1 and nephronophthisis, and has symptoms including polydipsia and polyuria. An important gene associated with Senior-Loken Syndrome 3 is NPHP1 (Nephrocystin 1). Affiliated tissues include kidney and eye, and related phenotypes are nystagmus and polydipsia

More information from OMIM: 606995 PS266900

Related Diseases for Senior-Loken Syndrome 3

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 senior-loken syndrome 1 30.9 SLSN3 NPHP1
2 nephronophthisis 30.7 SLSN3 NPHP1

Symptoms & Phenotypes for Senior-Loken Syndrome 3

Human phenotypes related to Senior-Loken Syndrome 3:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 polydipsia 31 HP:0001959
3 visual loss 31 HP:0000572
4 nephronophthisis 31 HP:0000090
5 stage 5 chronic kidney disease 31 HP:0003774
6 congenital blindness 31 HP:0007875
7 enuresis 31 HP:0000805
8 polyuria 31 HP:0000103
9 renal corticomedullary cysts 31 HP:0000108
10 undetectable electroretinogram 31 HP:0000550

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
nystagmus
leber congenital amaurosis
absent electroretinogram
vision loss, profound
poor pupillary reflexes

Genitourinary Kidneys:
nephronophthisis
corticomedullary cysts
end stage renal disease

Metabolic Features:
polydipsia
polyuria

Genitourinary:
secondary nocturnal enuresis

Clinical features from OMIM:

606995

UMLS symptoms related to Senior-Loken Syndrome 3:


polydipsia, polyuria

Drugs & Therapeutics for Senior-Loken Syndrome 3

Search Clinical Trials , NIH Clinical Center for Senior-Loken Syndrome 3

Genetic Tests for Senior-Loken Syndrome 3

Genetic tests related to Senior-Loken Syndrome 3:

# Genetic test Affiliating Genes
1 Senior-Loken Syndrome 3 29

Anatomical Context for Senior-Loken Syndrome 3

MalaCards organs/tissues related to Senior-Loken Syndrome 3:

40
Kidney, Eye

Publications for Senior-Loken Syndrome 3

Articles related to Senior-Loken Syndrome 3:

# Title Authors PMID Year
1
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. 56
12872122 2003
2
Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene. 56
11752023 2002
3
Candidate gene analysis of KIAA0678 encoding a DnaJ-like protein for adolescent nephronophthisis and Senior-Løken syndrome type 3. 61
12438707 2002

Variations for Senior-Loken Syndrome 3

ClinVar genetic disease variations for Senior-Loken Syndrome 3:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NPHP1 deletion Pathogenic 453297 2:110852960-110975102 2:110095383-110217525

Expression for Senior-Loken Syndrome 3

Search GEO for disease gene expression data for Senior-Loken Syndrome 3.

Pathways for Senior-Loken Syndrome 3

GO Terms for Senior-Loken Syndrome 3

Sources for Senior-Loken Syndrome 3

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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