Senior-Loken syndrome 6

General Information (adopted from Orphanet):

Synonyms, Signs: SLSN6
Number of Symptoms 14
OrphanetNr:
OMIM Id: 610189
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
17617513 [IBIS]
Age of onset: Childhood
17617513 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Senior-Loken syndrome
 -Rare eye disease
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000108) Renal corticomedullary cysts 20690115 IBIS 21 / 7739
2
 (HPO:0005565) Reduced renal corticomedullary differentiation 20690115 IBIS 5 / 7739
3
 (HPO:0004719) Hyperechogenic kidneys 20690115 IBIS 10 / 7739
4
 (HPO:0005562) Multiple renal cysts 20690115 IBIS 16 / 7739
5
 (HPO:0000092) Tubular atrophy 20690115 IBIS 28 / 7739
6
 (HPO:0005576) Tubulointerstitial fibrosis 20690115 IBIS 32 / 7739
7
 (HPO:0000547) Tapetoretinal degeneration 17617513 IBIS 11 / 7739
8
 (HPO:0000090) Nephronophthisis 17617513 IBIS 42 / 7739
9
 (HPO:0012622) Chronic kidney disease 17617513 IBIS 32 / 7739
10
 (HPO:0008897) Postnatal growth retardation 17617513 IBIS 113 / 7739
11
 (HPO:0001903) Anemia 17617513 IBIS 289 / 7739
12
 (HPO:0001959) Polydipsia 17617513 IBIS 43 / 7739
13
 (HPO:0000103) Polyuria 17617513 IBIS 60 / 7739
14
 (HPO:0003774) Stage 5 chronic kidney disease 20690115 IBIS 78 / 7739

Associated genes:

CEP290;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sayer et al. (2006) described a Turkish family with 2 affected sibs with Senior-Loken syndrome who reached end-stage renal disease at 11 and 13 years of age, respectively. Both had tapetoretinal degeneration resulting in reduced vision before 3 ...
Molecular genetics OMIM Sayer et al. (2006) detected a homozygous 5-bp deletion in the CEP290 gene (610142.0004) in the family they described with SLSN. The mutation altered an obligatory splice site.