Cytoscape Web
Click node...

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

ALDH1A3
(UniProt - OMIM)
 MECP2
(UniProt - OMIM)
GDF3
(UniProt - OMIM)
OTX2
(UniProt - OMIM)
PRSS56
(UniProt - OMIM)
RAX
(UniProt - OMIM)
SOX2
(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:


Isolated anophthalmia - microphthalmia
ALDH1A3 GDF3 OTX2 PRSS56 RAX SOX2
VSX2
Intellectual deficit, X-linked - psychosis - macroorchidism
MECP2



Isolated anophthalmia - microphthalmia
Intellectual deficit, X-linked - psychosis - macroorchidism

Synonym(s):
- Clinical anophthalmia
- Isolated pure microphthalmia
- Primitive anophthalmia
Synonym(s):
- Lindsay-Burn syndrome
- PPM-X
Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Mental and behavioural disorders -
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: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: x-linked dominant
External references:
7 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


Isolated anophthalmia - microphthalmia

(no data available)