Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
7 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 4
1 OMIM reference -
1 associated gene
8 signs/symptoms
Foveal hypoplasia - presenile cataract
Morning glory syndrome

PAX6 PAX6


COMMON
GENES
PAX6



Citations in the biomedical literature:


Foveal hypoplasia - presenile cataract
PAX6
Morning glory syndrome



Foveal hypoplasia - presenile cataract
Morning glory syndrome

Synonym(s):
- O'Donnell-Pappas syndrome

Synonym(s):
- Ectasic coloboma
- Volubilis syndrome

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: unknown

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Cataract / lens opacification
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Strabismus / squint


Foveal hypoplasia - presenile cataract
Morning glory syndrome

Very frequent
- Anomalies of eyes and vision
- Autosomal dominant inheritance
- Diffuse / generalised skin hyperpigmentation / melanoderma



Very frequent
- Retinitis pigmentosa / retinal pigmentary changes
- Visual loss / blindness / amblyopia

Occasional
- Coloboma of the optic nerve
- Retinal detachment