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1 OMIM reference -
1 associated gene
7 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
4 OMIM references -
4 associated genes
4 signs/symptoms
Foveal hypoplasia - presenile cataract
Microphthalmia - cataract

PAX6 CRYBA4
SIX6
TMEM114
VSX2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PAX6
(0.82)
VSX2



Citations in the biomedical literature:


Foveal hypoplasia - presenile cataract
PAX6
Microphthalmia - cataract
CRYBA4 SIX6 TMEM114 VSX2



Foveal hypoplasia - presenile cataract
Microphthalmia - cataract

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

Synonym(s):
- Congenital cataract - microphthalmia

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- 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:
(no data available)

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


COMMON
SIGNS
- Autosomal dominant inheritance


Foveal hypoplasia - presenile cataract
Microphthalmia - cataract

Very frequent
- Anomalies of eyes and vision
- Cataract / lens opacification
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla

Frequent
- Strabismus / squint



Frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Coloboma of iris
- Retinoschisis / retinal / chorioretinal coloboma