Senior-Loken syndrome 3

General Information (adopted from Orphanet):

Synonyms, Signs: SLSN3
Number of Symptoms 5
OrphanetNr:
OMIM Id: 606995
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 9 families - PMID: 12872122 [IBIS]
Inheritance: Autosomal recessive
- PMID: 12872122 [IBIS]
Age of onset: Childhood
- PMID: 12872122 [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:0001395) Hepatic fibrosis 12872122 IBIS 67 / 7739
2
 (HPO:0000547) Tapetoretinal degeneration 12872122 IBIS 11 / 7739
3
 (HPO:0000108) Renal corticomedullary cysts 12872122 IBIS 21 / 7739
4
 (HPO:0000090) Nephronophthisis 12872122 IBIS 42 / 7739
5
 (HPO:0003774) Stage 5 chronic kidney disease 12872122 IBIS 78 / 7739

Associated genes:

NPHP3;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: