SLSN3
MCID: SNR011
MIFTS: 20

Senior-Loken Syndrome 3 (SLSN3)

Categories: Eye diseases, Genetic diseases, Nephrological diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Senior-Loken Syndrome 3

MalaCards integrated aliases for Senior-Loken Syndrome 3:

Name: Senior-Loken Syndrome 3 57 28 12 5 71
Slsn3 57

Characteristics:


Inheritance:

Autosomal recessive 57

Classifications:



External Ids:

OMIM® 57 606995
OMIM Phenotypic Series 57 PS266900
MedGen 40 C1846980
UMLS 71 C1846980

Summaries for Senior-Loken Syndrome 3

MalaCards based summary: Senior-Loken Syndrome 3, also known as slsn3, is related to nephronophthisis, and has symptoms including polyuria and polydipsia. An important gene associated with Senior-Loken Syndrome 3 is SLSN3 (Senior-Loken Syndrome 3). Affiliated tissues include kidney, 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 nephronophthisis 11.0

Symptoms & Phenotypes for Senior-Loken Syndrome 3

Human phenotypes related to Senior-Loken Syndrome 3:

30 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 30 HP:0000639
2 polydipsia 30 HP:0001959
3 nephronophthisis 30 HP:0000090
4 visual loss 30 HP:0000572
5 stage 5 chronic kidney disease 30 HP:0003774
6 enuresis 30 HP:0000805
7 congenital blindness 30 HP:0007875
8 renal corticomedullary cysts 30 HP:0000108
9 polyuria 30 HP:0000103
10 undetectable electroretinogram 30 HP:0000550

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 (Updated 24-Oct-2022)

UMLS symptoms related to Senior-Loken Syndrome 3:


polyuria; polydipsia

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 28

Anatomical Context for Senior-Loken Syndrome 3

Organs/tissues related to Senior-Loken Syndrome 3:

MalaCards : Kidney

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. 57
12872122 2003
2
Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene. 57
11752023 2002
3
A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints. 5
10980528 2000
4
Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. 5
10839884 2000
5
Candidate gene analysis of KIAA0678 encoding a DnaJ-like protein for adolescent nephronophthisis and Senior-Løken syndrome type 3. 62
12438707 2002

Variations for Senior-Loken Syndrome 3

ClinVar genetic disease variations for Senior-Loken Syndrome 3:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 3 genes DEL Pathogenic
453297 GRCh37: 2:110852960-110975102
GRCh38: 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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....