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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
5 associated genes
17 signs/symptoms
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Essential thrombocythemia

TUBB3 CALR
JAK2
MPL
TET2
TP53


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TUBB3
(0.63)
TP53



Citations in the biomedical literature:


Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
TUBB3
Essential thrombocythemia
CALR JAK2 MPL TET2 TP53



Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Essential thrombocythemia

Synonym(s):
(no synonyms)

Synonym(s):
- ET
- Essential thrombocytosis

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

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

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: 1-5 / 10 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: sporadic

External references:
1 OMIM reference -
No MeSH references
External references:
3 OMIM references -
1 MeSH reference: D013920

Essential thrombocythemia

Very frequent
- Acute ischemic syndrome
- Angor pectoris / myocardial infarction
- Arterial embolism / thrombosis
- Bone marrow anomalies
- Cerebral vascular anomalies
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Platelet disorders / thrombopathies
- Platelets shape anomalies
- Thoracic / chest pain
- Transient amaurosis / acute visual trouble
- Transient cerebral ischemia / stroke
- Venous thrombosis / phlebitis / thrombophlebitis

Frequent
- Splenomegaly

Occasional
- Acute leukemia
- Myelodysplastic syndrome
- Myeloproliferative syndrome / chronic leukemia


Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

(no data available)