Cytoscape Web
Click node...

Senior-Loken syndrome
7 OMIM references -
8 associated genes
15 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Dihydropteridine reductase deficiency
1 OMIM reference -
1 associated gene
3 signs/symptoms
Senior-Loken syndrome
Dihydropteridine reductase deficiency

CEP164
(UniProt - OMIM)
 QDPR
(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
(0.72)
QDPR


Citations in the biomedical literature:


Senior-Loken syndrome
CEP164 CEP290 INVS IQCB1 NPHP1 NPHP3
NPHP4 SDCCAG8
Dihydropteridine reductase deficiency
QDPR



Senior-Loken syndrome
Dihydropteridine reductase deficiency

Synonym(s):
- Nephronophthisis with retinal dystrophy
- Renal dysplasia - retinal aplasia
- SLSN
Synonym(s):
- Hyperphenylalaninemia due to dihydropteridine reductase deficiency
- PKU type 2
- Phenylketonuria type 2
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
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: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal recessive
External references:
7 OMIM references -
1 MeSH reference: C537580
External references:
1 OMIM reference -
1 MeSH reference: C537896
COMMON
SIGNS 		- Intellectual deficit / mental / psychomotor retardation / learning disability

Senior-Loken syndrome
Dihydropteridine reductase deficiency

Very frequent
- Autosomal recessive inheritance
- Chronic arterial hypertension
- 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
- Megaesophagus / cardiospasm / congenital dilation of the esophagus / achalasia
- Microcephaly