Senior-Loken syndrome 4

General Information (adopted from Orphanet):

Synonyms, Signs: SLSN4
Number of Symptoms 9
OrphanetNr:
OMIM Id: 606996
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 families - PMID: 12205563 [IBIS]
Inheritance: Autosomal recessive
- PMID: 12205563 [IBIS]
Age of onset: Childhood
- PMID: 12205563 [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:0000103) Polyuria 12205563; 11920287 IBIS 60 / 7739
2
 (HPO:0003774) Stage 5 chronic kidney disease 12205563; 11920287 IBIS 78 / 7739
3
 (HPO:0000090) Nephronophthisis 11920287; 12205563 IBIS 42 / 7739
4
 (HPO:0001583) Rotary nystagmus 12205563 IBIS 7 / 7739
5
 (HPO:0001141) Severe visual impairment 12205563 IBIS 11 / 7739
6
 (HPO:0000510) Rod-cone dystrophy 11920287; 12205563 IBIS 266 / 7739
7
 (HPO:0000646) Amblyopia 12205563 IBIS 42 / 7739
8
 (HPO:0001959) Polydipsia 12205563; 11920287 IBIS 43 / 7739
9
 (HPO:0001903) Anemia 12205563; 11920287 IBIS 289 / 7739

Associated genes:

NPHP4;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Schuermann et al. (2002) reported a family (F3) in which 3 individuals were affected with late-onset retinitis pigmentosa in addition to nephronophthisis, an association described as Senior-Loken syndrome.
Molecular genetics OMIM Otto et al. (2002) demonstrated 2 loss-of-function mutations of the NPHP4 gene (607215.0006-607215.0007) in patients with Senior-Loken syndrome from 2 unrelated families.