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Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
1 OMIM reference -
1 associated gene
49 connected diseases
No signs/symptoms info
Disease Type of connection
Congenital fibrosis of extraocular muscles
Giant cell glioblastoma
Behavioral variant of frontotemporal dementia
Classical progressive supranuclear palsy
Progressive non-fluent aphasia
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Semantic dementia
Leber congenital amaurosis
Senior-Loken syndrome
Young adult-onset Parkinsonism
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Adrenocortical carcinoma
Anophthalmia / microphthalmia - esophageal atresia
B-cell chronic lymphocytic leukemia
Burkitt lymphoma
Colobomatous microphthalmia
Combined deficiency of factor V and factor VIII
Common variable immunodeficiency
Congenital atransferrinemia
Essential thrombocythemia
Estrogen resistance syndrome
Familial isolated dilated cardiomyopathy
Familial pancreatic carcinoma
Isolated anophthalmia - microphthalmia
Li-Fraumeni syndrome
Multiple endocrine neoplasia type 1
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Pseudohypoaldosteronism type 2E
Septo-optic dysplasia
X-linked Emery-Dreifuss muscular dystrophy
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Lissencephaly due to TUBA1A mutation
(no synonyms)

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

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
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
TUBB3 Q13509602661
No signs/symptoms info available.