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Senior-Loken syndrome
7 OMIM references -
8 associated genes
15 signs/symptoms
PROTEIN INTERACTIONS: 1
Ichthyosis hystrix of Curth-Macklin
1 OMIM reference -
1 associated gene
8 signs/symptoms
Senior-Loken syndrome
Ichthyosis hystrix of Curth-Macklin

CEP164
(UniProt - OMIM)
 KRT1
(UniProt - OMIM)
CEP290
(UniProt - OMIM)
INVS
(UniProt - OMIM)
IQCB1
(UniProt - OMIM)
NPHP1
(UniProt - OMIM)
NPHP3
(UniProt - OMIM)
NPHP4
(UniProt - OMIM)
SDCCAG8
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
IQCB1
(0.63)
KRT1


Citations in the biomedical literature:


Senior-Loken syndrome
CEP164 CEP290 INVS IQCB1 NPHP1 NPHP3
NPHP4 SDCCAG8
Ichthyosis hystrix of Curth-Macklin
KRT1



Senior-Loken syndrome
Ichthyosis hystrix of Curth-Macklin

Synonym(s):
- Nephronophthisis with retinal dystrophy
- Renal dysplasia - retinal aplasia
- SLSN
Synonym(s):
- Ichthyosis hystrix, Curth-Macklin type
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: any age
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
7 OMIM references -
1 MeSH reference: C537580
External references:
1 OMIM reference -
1 MeSH reference: C536088
Senior-Loken syndrome
Ichthyosis hystrix of Curth-Macklin

Very frequent
- Autosomal recessive inheritance
- Chronic arterial hypertension
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mild visual loss / impaired visual acuity
- Multicystic kidney / renal dysplasia
- Polycystic kidneys
- Retinitis pigmentosa / retinal pigmentary changes
- Short stature / dwarfism / nanism

Frequent
- Renal tubular defect / tubulopathy
- Visual loss / blindness / amblyopia

Occasional
- Abnormal / absent ossification
- Ataxia / incoordination / trouble of the equilibrium
- Cataract / lens opacification
- Cone epiphyses / epiphysis
- Congenital hepatic fibrosis


Very frequent
- Autosomal dominant inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Follicular / erythematous / edematous papules / milium
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Ichthyosis / ichthyosiform dermatitis

Frequent
- Abnormal fingernails
- Contractures / cramps / trismus / tetania / claudication / opisthotonos

Occasional
- Gangrena / necrosis