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Foveal hypoplasia - presenile cataract
1 OMIM reference -
1 associated gene
7 signs/symptoms
PROTEIN INTERACTIONS: 2
Colobomatous microphthalmia
9 OMIM references -
8 associated genes
No signs/symptoms info
Foveal hypoplasia - presenile cataract
Colobomatous microphthalmia

PAX6
(UniProt - OMIM)
 ABCB6
(UniProt - OMIM)
GDF3
(UniProt - OMIM)
GDF6
(UniProt - OMIM)
SHH
(UniProt - OMIM)
SOX2
(UniProt - OMIM)
STRA6
(UniProt - OMIM)
TENM3
(UniProt - OMIM)
VSX2
(UniProt - OMIM)

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


Citations in the biomedical literature:


Foveal hypoplasia - presenile cataract
PAX6
Colobomatous microphthalmia
ABCB6 GDF3 GDF6 SHH SOX2 STRA6
TENM3 VSX2



Foveal hypoplasia - presenile cataract
Colobomatous microphthalmia

Synonym(s):
- O'Donnell-Pappas syndrome
Synonym(s):
- MAC
- Microphthalmia - anophthalmia - coloboma
- Microphthalmia with colobomatous cyst
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:
9 OMIM references -
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



Colobomatous microphthalmia

(no data available)