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Colobomatous microphthalmia
9 OMIM references -
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
Aniridia - cerebellar ataxia - intellectual deficit
1 OMIM reference -
1 associated gene
10 signs/symptoms
Colobomatous microphthalmia
Aniridia - cerebellar ataxia - intellectual deficit

ABCB6
(UniProt - OMIM)
 PAX6
(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)
VSX2
SOX2
(0.82)
(0.72)
PAX6
PAX6


Citations in the biomedical literature:


Colobomatous microphthalmia
ABCB6 GDF3 GDF6 SHH SOX2 STRA6
TENM3 VSX2
Aniridia - cerebellar ataxia - intellectual deficit
PAX6



Colobomatous microphthalmia
Aniridia - cerebellar ataxia - intellectual deficit

Synonym(s):
- MAC
- Microphthalmia - anophthalmia - coloboma
- Microphthalmia with colobomatous cyst
Synonym(s):
- Gillespie syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive
External references:
9 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Aniridia - cerebellar ataxia - intellectual deficit

Very frequent
- Aniridia / iris hypoplasia
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Expressionless face / amimia
- Intellectual deficit / mental / psychomotor retardation / learning disability

Frequent
- Hypotonia
- Movement disorder
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Occasional
- Anomalies of ear and hearing
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches


Colobomatous microphthalmia

(no data available)