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Isolated anophthalmia - microphthalmia
7 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 3
Foveal hypoplasia - presenile cataract
1 OMIM reference -
1 associated gene
7 signs/symptoms
Isolated anophthalmia - microphthalmia
Foveal hypoplasia - presenile cataract

ALDH1A3
(UniProt - OMIM)
 PAX6
(UniProt - OMIM)
GDF3
(UniProt - OMIM)
OTX2
(UniProt - OMIM)
PRSS56
(UniProt - OMIM)
RAX
(UniProt - OMIM)
SOX2
(UniProt - OMIM)
VSX2
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
RAX
VSX2
SOX2
(0.85)
(0.82)
(0.72)
PAX6
PAX6
PAX6


Citations in the biomedical literature:


Isolated anophthalmia - microphthalmia
ALDH1A3 GDF3 OTX2 PRSS56 RAX SOX2
VSX2
Foveal hypoplasia - presenile cataract
PAX6



Isolated anophthalmia - microphthalmia
Foveal hypoplasia - presenile cataract

Synonym(s):
- Clinical anophthalmia
- Isolated pure microphthalmia
- Primitive anophthalmia
Synonym(s):
- O'Donnell-Pappas syndrome
Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the eye and adnexa -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
7 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Foveal hypoplasia - presenile cataract

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

Frequent
- Strabismus / squint



Isolated anophthalmia - microphthalmia

(no data available)