MCID: SNR010
MIFTS: 24

Senior-Løken Syndrome

Categories: Nephrological diseases

Aliases & Classifications for Senior-Løken Syndrome

MalaCards integrated aliases for Senior-Løken Syndrome:

Name: Senior-Løken Syndrome 25
Renal Dysplasia and Retinal Aplasia 25 73
Renal-Retinal Syndrome 25
Senior-Loken Syndrome 25
Loken-Senior Syndrome 25

Classifications:



External Ids:

UMLS 73 C0403553

Summaries for Senior-Løken Syndrome

MalaCards based summary : Senior-Løken Syndrome, also known as renal dysplasia and retinal aplasia, is related to joubert syndrome with oculorenal anomalies and nephronophthisis 1, and has symptoms including polyuria and polydipsia. An important gene associated with Senior-Løken Syndrome is DNAJC13 (DnaJ Heat Shock Protein Family (Hsp40) Member C13), and among its related pathways/superpathways is Organelle biogenesis and maintenance. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include eye and liver.

Wikipedia : 76 Senior–Løken syndrome is a congenital eye disorder, first characterized in 1961. It is a rare,... more...

Related Diseases for Senior-Løken Syndrome

Graphical network of the top 20 diseases related to Senior-Løken Syndrome:



Diseases related to Senior-Løken Syndrome

Symptoms & Phenotypes for Senior-Løken Syndrome

UMLS symptoms related to Senior-Løken Syndrome:


polyuria, polydipsia

Drugs & Therapeutics for Senior-Løken Syndrome

Drugs for Senior-Løken Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Investigations Into Ciliopathies Active, not recruiting NCT00068224

Search NIH Clinical Center for Senior-Løken Syndrome

Genetic Tests for Senior-Løken Syndrome

Anatomical Context for Senior-Løken Syndrome

MalaCards organs/tissues related to Senior-Løken Syndrome:

41
Eye, Liver

Publications for Senior-Løken Syndrome

Articles related to Senior-Løken Syndrome:

# Title Authors Year
1
Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. ( 9856524 )
1998

Variations for Senior-Løken Syndrome

Expression for Senior-Løken Syndrome

Search GEO for disease gene expression data for Senior-Løken Syndrome.

Pathways for Senior-Løken Syndrome

Pathways related to Senior-Løken Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.65 CEP290 IQCB1 NPHP3 NPHP4

GO Terms for Senior-Løken Syndrome

Cellular components related to Senior-Løken Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.5 CEP290 IQCB1 NPHP4
2 microtubule organizing center GO:0005815 9.43 CEP290 IQCB1 NPHP4
3 centriole GO:0005814 9.4 CEP290 IQCB1
4 ciliary basal body GO:0036064 9.37 CEP290 NPHP4
5 cilium GO:0005929 9.33 CEP290 NPHP3 NPHP4
6 ciliary transition zone GO:0035869 8.96 CEP290 NPHP4
7 photoreceptor connecting cilium GO:0032391 8.8 CEP290 IQCB1 NPHP4

Biological processes related to Senior-Løken Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.43 CEP290 IQCB1 NPHP3
2 negative regulation of canonical Wnt signaling pathway GO:0090090 9.37 NPHP3 NPHP4
3 ciliary basal body-plasma membrane docking GO:0097711 9.33 CEP290 IQCB1 NPHP4
4 cell projection organization GO:0030030 9.32 CEP290 IQCB1
5 maintenance of animal organ identity GO:0048496 8.96 IQCB1 NPHP3
6 photoreceptor cell maintenance GO:0045494 8.8 IQCB1 NPHP3 NPHP4

Sources for Senior-Løken Syndrome

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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