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Oguchi disease
2 OMIM references -
2 associated genes
11 connected diseases
No signs/symptoms info
Disease Type of connection
Congenital stationary night blindness
Retinitis pigmentosa
Retinitis punctata albescens
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Joubert syndrome with orofaciodigital defect
Parkinsonian-pyramidal syndrome
Young adult-onset Parkinsonism
Catecholaminergic polymorphic ventricular tachycardia
Synonym(s):
- Congenital stationary night blindness, Oguchi type
- Oguchi syndrome
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
1 MeSH reference: C537743
Gene symbol UniProt reference OMIM reference
GRK1 Q15835180381
SAG P10523181031
No signs/symptoms info available.