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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
19 signs/symptoms
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Anophthalmia/microphthalmia - esophageal atresia

TUBB3 SOX2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TUBB3
(0.63)
SOX2



Citations in the biomedical literature:


Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
TUBB3
Anophthalmia/microphthalmia - esophageal atresia
SOX2



Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Anophthalmia/microphthalmia - esophageal atresia

Synonym(s):
(no synonyms)

Synonym(s):
- MCOPS3
- Syndromic microphthalmia type 3

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
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 dominant

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

Anophthalmia/microphthalmia - esophageal atresia

Very frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Autosomal dominant inheritance
- Tracheo-esophageal fistula / esophageal atresia / stenosis

Frequent
- Abnormal vertebral size / shape
- Corpus callosum / septum pellucidum total / partial agenesis
- External ear anomalies
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Visual loss / blindness / amblyopia

Occasional
- Coloboma of iris
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hydrocephaly
- Hypospadias / epispadias / bent penis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Micropenis / small penis / agenesis
- Patent ductus arteriosus
- Rib number anomalies
- Sclerocornea
- Ventricular septal defect / interventricular communication


Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

(no data available)