Senior-Loken syndrome 5

General Information (adopted from Orphanet):

Synonyms, Signs: SLSN5
Number of Symptoms 15
OrphanetNr:
OMIM Id: 609254
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
24674142 [IBIS]
Age of onset: Neonatal
Childhood
24674142; 25984213 [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:0000107) Renal cyst 24674142; 25984213 IBIS 126 / 7739
2
(HPO:0010741) Edema of the lower limbs 25984213 IBIS 34 / 7739
3
(HPO:0001959) Polydipsia 25984213 IBIS 43 / 7739
4
(HPO:0000518) Cataract 25984213 IBIS 454 / 7739
5
(HPO:0000618) Blindness 25984213 IBIS 124 / 7739
6
(HPO:0000639) Nystagmus 24674142; 21068128 IBIS 555 / 7739
7
(HPO:0001903) Anemia 24674142 IBIS 289 / 7739
8
(HPO:0004322) Short stature 24674142 IBIS 1232 / 7739
9
(HPO:0000017) Nocturia 24674142 IBIS 5 / 7739
10
(HPO:0000103) Polyuria 24674142; 25984213 IBIS 60 / 7739
11
(HPO:0007875) Congenital blindness 24674142 IBIS 9 / 7739
12
(HPO:0000090) Nephronophthisis 24674142; 25984213; 15723066; 21068128 IBIS 42 / 7739
13
(HPO:0003774) Stage 5 chronic kidney disease 24674142; 25984213 IBIS 78 / 7739
14
(HPO:0000510) Rod-cone dystrophy 25984213; 15723066; 21068128 IBIS 266 / 7739
15
(MedDRA:10070667) Leber's congenital amaurosis 24674142; 21068128 IBIS 4 / 7739

Associated genes:

IQCB1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Senior-Loken syndrome is an autosomal recessive disorder with the main features of nephronophthisis (NPHP; see 256100) and Leber congenital amaurosis (LCA; see 204000).
Molecular genetics OMIM By haplotype analysis, Otto et al. (2005) refined the critical genetic region for SLSN5 to an 8.7-Mb interval containing the IQCB1 gene. They identified 8 different mutations in the IQCB1 gene in patients with SLSN, including an arg461-to-ter ...