Cytoscape Web
Click node...

Colobomatous microphthalmia
9 OMIM references -
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Intellectual deficit, X-linked - psychosis - macroorchidism
1 OMIM reference -
1 associated gene
13 signs/symptoms
Colobomatous microphthalmia
Intellectual deficit, X-linked - psychosis - macroorchidism

ABCB6
(UniProt - OMIM)
 MECP2
(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)
SOX2
(0.63)
MECP2


Citations in the biomedical literature:


Colobomatous microphthalmia
ABCB6 GDF3 GDF6 SHH SOX2 STRA6
TENM3 VSX2
Intellectual deficit, X-linked - psychosis - macroorchidism
MECP2



Colobomatous microphthalmia
Intellectual deficit, X-linked - psychosis - macroorchidism

Synonym(s):
- MAC
- Microphthalmia - anophthalmia - coloboma
- Microphthalmia with colobomatous cyst
Synonym(s):
- Lindsay-Burn syndrome
- PPM-X
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Mental and behavioural disorders -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked dominant
External references:
9 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Intellectual deficit, X-linked - psychosis - macroorchidism

Very frequent
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macroorchidism / macrotestes
- Movement disorder
- Psychic / behavioural troubles
- X-linked recessive inheritance

Frequent
- Abnormal gait
- EEG anomalies
- Long / large ear
- Seizures / epilepsy / absences / spasms / status epilepticus

Occasional
- Psychic / psychomotor regression / dementia / intellectual decline
- Scoliosis
- Structural anomalies of the cardio-circulatory system


Colobomatous microphthalmia

(no data available)