Cytoscape Web
Click node...


7 OMIM references -
7 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 3
1 OMIM reference -
1 associated gene
No signs/symptoms info
Isolated anophthalmia - microphthalmia
Autosomal dominant keratitis

ALDH1A3 PAX6
GDF3
OTX2
PRSS56
RAX
SOX2
VSX2


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
Autosomal dominant keratitis
PAX6



Isolated anophthalmia - microphthalmia
Autosomal dominant keratitis

Synonym(s):
- Clinical anophthalmia
- Isolated pure microphthalmia
- Primitive anophthalmia

Synonym(s):
- Hereditary keratitis

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: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
7 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537022

No signs/symptoms info available.