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1 OMIM reference -
1 associated gene
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
12 signs/symptoms
Papilloma of choroid plexus
Alpha-thalassemia - myelodysplastic syndrome

TP53 ATRX


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Papilloma of choroid plexus
TP53
Alpha-thalassemia - myelodysplastic syndrome
ATRX



Papilloma of choroid plexus
Alpha-thalassemia - myelodysplastic syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- ATMDS
- Acquired HbH disease
- Acquired hemoglobin H disease

Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: sporadic

External references:
1 OMIM reference -
1 MeSH reference: D020288
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Neoplasms / tumors


Papilloma of choroid plexus
Alpha-thalassemia - myelodysplastic syndrome

Very frequent
- Autosomal recessive inheritance
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Hydrocephaly
- Structural anomalies of the nervous system

Occasional
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mild visual loss / impaired visual acuity
- Seizures / epilepsy / absences / spasms / status epilepticus


Very frequent
- Asthenia / fatigue / weakness
- Microcytic anemia
- Myelodysplastic syndrome
- Polynuclear cells / neutrophils anomalies / neutropenia
- Thrombocytopenia / thrombopenia

Frequent
- Bruisability
- Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Occasional
- Acute leukemia
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Splenomegaly