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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
4 associated genes
4 signs/symptoms
Autosomal dominant keratitis
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:


Autosomal dominant keratitis
PAX6
Microphthalmia - cataract
CRYBA4 SIX6 TMEM114 VSX2



Autosomal dominant keratitis
Microphthalmia - cataract

Synonym(s):
- Hereditary keratitis

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: unknown
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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

Microphthalmia - cataract

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



Autosomal dominant keratitis

(no data available)