SLSN3
MCID: SNR011
MIFTS: 19

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 57 29 13 6 72
Slsn3 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
senior-loken syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MedGen 42 C1846980
UMLS 72 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 has symptoms including polydipsia and polyuria. An important gene associated with Senior-Loken Syndrome 3 is NPHP1 (Nephrocystin 1). 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 senior-loken syndrome 1 11.3

Symptoms & Phenotypes for Senior-Loken Syndrome 3

Human phenotypes related to Senior-Loken Syndrome 3:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 polydipsia 32 HP:0001959
3 visual loss 32 HP:0000572
4 nephronophthisis 32 HP:0000090
5 stage 5 chronic kidney disease 32 HP:0003774
6 congenital blindness 32 HP:0007875
7 enuresis 32 HP:0000805
8 polyuria 32 HP:0000103
9 renal corticomedullary cysts 32 HP:0000108
10 undetectable electroretinogram 32 HP:0000550

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 8
12872122 2003
2
Identification of a gene locus for Senior-Løken syndrome in the region of the nephronophthisis type 3 gene. 8
11752023 2002
3
Candidate gene analysis of KIAA0678 encoding a DnaJ-like protein for adolescent nephronophthisis and Senior-Løken syndrome type 3. 38
12438707 2002

Variations for Senior-Loken Syndrome 3

ClinVar genetic disease variations for Senior-Loken Syndrome 3:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NPHP1 deletion Pathogenic 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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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