SLSN3
MCID: SNR011
MIFTS: 20

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 58 30 13 6 74
Slsn3 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
senior-loken syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



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

Description from OMIM: 606995

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 11.1

Symptoms & Phenotypes for Senior-Loken Syndrome 3

Human phenotypes related to Senior-Loken Syndrome 3:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 polydipsia 33 HP:0001959
3 visual loss 33 HP:0000572
4 nephronophthisis 33 HP:0000090
5 stage 5 chronic kidney disease 33 HP:0003774
6 congenital blindness 33 HP:0007875
7 enuresis 33 HP:0000805
8 polyuria 33 HP:0000103
9 renal corticomedullary cysts 33 HP:0000108
10 undetectable electroretinogram 33 HP:0000550

Symptoms via clinical synopsis from OMIM:

58
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 30

Anatomical Context for Senior-Loken Syndrome 3

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

42
Kidney

Publications for Senior-Loken Syndrome 3

Variations for Senior-Loken Syndrome 3

ClinVar genetic disease variations for Senior-Loken Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NPHP1 NC_000002.12: g.110095383_110217525del122143 deletion Pathogenic GRCh37 Chromosome 2, 110852960: 110975102
2 NPHP1 NC_000002.12: g.110095383_110217525del122143 deletion Pathogenic GRCh38 Chromosome 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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