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1 OMIM reference -
1 associated gene
2 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Paris-Trousseau thrombocytopenia
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss

FLI1 ATP1A3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FLI1
(0.63)
ATP1A3



Citations in the biomedical literature:


Paris-Trousseau thrombocytopenia
FLI1
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
ATP1A3



Paris-Trousseau thrombocytopenia
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss

Synonym(s):
(no synonyms)

Synonym(s):
- CAPOS syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hematologic disease
Classification (Orphanet):
(no data available)

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
(no data available)

Epidemiological data:
(no data available)
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 -
1 MeSH reference: C538617
External references:
1 OMIM reference -
No MeSH references

Paris-Trousseau thrombocytopenia

Frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Structural anomalies of the cardio-circulatory system



Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss

(no data available)