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Microphthalmia - cataract
4 OMIM references -
4 associated genes
19 connected diseases
4 signs/symptoms
Disease Type of connection
Cataract-microcornea syndrome
14q22q23 microdeletion syndrome
Colobomatous microphthalmia
Isolated anophthalmia - microphthalmia
Zonular cataract
Nuclear cataract
Aniridia - cerebellar ataxia - intellectual deficit
Autosomal dominant keratitis
Foveal hypoplasia - presenile cataract
Isolated aniridia
Isolated optic nerve hypoplasia
Morning glory syndrome
Peters anomaly
WAGR syndrome
Cataract with Y-shaped suture opacities
Cerulean cataract
Coppock-like cataract
Pulverulent cataract
Total congenital cataract
Synonym(s):
- Congenital cataract - microphthalmia
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
4 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
CRYBA4 P53673123631
SIX6 O95475606326
TMEM114 B3SHH9611579
VSX2 P58304142993
Frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Autosomal dominant inheritance
- Coloboma of iris
- Retinoschisis / retinal / chorioretinal coloboma