Senior-Loken syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SLSN Renal dysplasia - retinal aplasia Nephronophthisis with retinal dystrophy |
| Number of Symptoms | 0 |
| OrphanetNr: | 3156 |
| OMIM Id: |
266900
606995 606996 609254 610189 613615 614845 |
| ICD-10: |
Q61.5 |
| UMLs: |
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| MeSH: |
C537580 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | < 0.1 of 100 000 [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Familial cystic renal disease
-Rare genetic disease -Rare renal disease Genetic vitreous-retinal disease -Rare eye disease -Rare genetic disease |
Comment:
| This term does not characterize a disease but a group of diseases. Annotations can be found at a more specific level. Senior-Loken syndrome comprises the following Phenodis entries: Phenodis:10253 Senior-Loken syndrome 1 OMIM:266900; Phenodis:11000 Senior-Loken syndrome 3 OMIM:606995; Phenodis:11001 Senior-Loken syndrome 4 OMIM:606996; Phenodis:11152 Senior-Loken syndrome 5 OMIM:609254; Phenodis:11235 Senior-Loken syndrome 6 OMIM:610189; Phenodis:11616 Senior-Loken syndrome 7 OMIM:613615; Phenodis:12686 Senior-Loken syndrome 8 OMIM:616307; Phenodis:12769 Senior-Loken syndrome 9 OMIM:616629; Phenodis:11975 Nephronophthisis 15 OMIM:614845; Senior-Løken syndrome (SLS) is an autosomal recessive disease characterized by development of a retinitis pigmentosa (RP)- or Leber congenital amaurosis (LCA)-like retinal dystrophy and a medullary cystic kidney disease, nephronophthisis. Mutations in several genes (called nephrocystins) have been shown to cause SLS. The proteins encoded by these genes are localized in the connecting cilium of photoreceptor cells and in the primary cilium of kidney cells (PMID:22819833). |
Symptom Information:
Associated genes:
| NPHP1; NPHP3; NPHP4; IQCB1; CEP290; SDCCAG8; CEP164; WDR19; TRAF3IP1; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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