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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Congenital atransferrinemia

TUBB3 TF


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
TUBB3
Congenital atransferrinemia
TF



Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Congenital atransferrinemia

Synonym(s):
(no synonyms)

Synonym(s):
- Congenital hypotransferrinemia

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

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: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538259

Congenital atransferrinemia

Very frequent
- Anaemia
- Autosomal recessive inheritance

Frequent
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Storage liver disease

Occasional
- Arthritis / synovitis / synovial proliferation
- Hypothyroidy
- Structural anomalies of the cardio-circulatory system
- Structural anomalies of the pancreas


Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

(no data available)