MCID: SNR011
MIFTS: 20

Senior-Loken Syndrome 3

Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological 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 73
Slsn3 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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 senior-l√łken syndrome, and has symptoms including polyuria and polydipsia. An important gene associated with Senior-Loken Syndrome 3 is NPHP1 (Nephrocystin 1). Affiliated tissues include kidney, and related phenotypes are nephronophthisis and polyuria

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 29.9 NPHP1 SLSN3
2 senior-løken syndrome 10.9

Symptoms & Phenotypes for Senior-Loken Syndrome 3

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

Human phenotypes related to Senior-Loken Syndrome 3:

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

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 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

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_000002.11: g.110852960_110975102del122143 deletion Pathogenic GRCh37 Chromosome 2, 110852960: 110975102

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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