Senior-Loken syndrome 1

General Information (adopted from Orphanet):

Synonyms, Signs: SLSN1
Senior-Loken syndrome
Juvenile nephronophthisis with leber amaurosis
Renal-retinal syndrome
Loken-Senior syndrome
Renal dysplasia and retinal aplasia
Number of Symptoms 7
OrphanetNr:
OMIM Id: 266900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
9856524 [IBIS]
Age of onset: Childhood
9856524 [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:0000556) Retinal dystrophy 9856524 IBIS 65 / 7739
2
 (HPO:0000090) Nephronophthisis 9856524 IBIS 42 / 7739
3
 (HPO:0003774) Stage 5 chronic kidney disease 9856524 IBIS 78 / 7739
4
 (HPO:0000103) Polyuria 9856524 IBIS 60 / 7739
5
 (HPO:0000083) Renal insufficiency 9856524 IBIS 232 / 7739
6
 (HPO:0000547) Tapetoretinal degeneration 9856524 IBIS 11 / 7739
7
 (HPO:0001959) Polydipsia 9856524 IBIS 43 / 7739

Associated genes:

NPHP1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Senior-Loken syndrome is an autosomal recessive disease with the main features of nephronophthisis (NPHP; see 256100) and Leber congenital amaurosis (see 204000). Mutations in some of the same genes that cause nephronophthisis (see 256100) cause Senior-Loken syndrome. ...
Clinical Description OMIM Loken et al. (1961) reported brother and sister with the main features of nephronophthisis and Leber congenital amaurosis. In the sister, renal dysplasia was proved at autopsy. Senior et al. (1961) and Fairley et al. (1963) also reported ...
Molecular genetics OMIM Caridi et al. (1998) described Senior-Loken syndrome (SLSN1) in patients with homozygous deletion (607100.0005) of the NPHP1 gene.

- Modifier Genes

Khanna et al. (2009) presented evidence that a common allele in the RPGRIP1L ...
Population genetics OMIM The prevalence of nephronophthisis is estimated to be 1 in 100,000, with 1 in 10 affected individuals having retinal dysfunction, constituting Senior-Loken syndrome (summary by Otto et al., 2005).