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1 OMIM reference -
1 associated gene
2 signs/symptoms
PROTEIN INTERACTIONS: 1
5 OMIM references -
5 associated genes
6 signs/symptoms
Paris-Trousseau thrombocytopenia
Hereditary persistence of fetal hemoglobin - beta-thalassemia

FLI1 BCL11A
HBB
HBG1
HBG2
KLF1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FLI1
(0.79)
KLF1



Citations in the biomedical literature:


Paris-Trousseau thrombocytopenia
FLI1
Hereditary persistence of fetal hemoglobin - beta-thalassemia
BCL11A HBB HBG1 HBG2 KLF1



Paris-Trousseau thrombocytopenia
Hereditary persistence of fetal hemoglobin - beta-thalassemia

Synonym(s):
(no synonyms)

Synonym(s):
- HPFH - beta-thalassemia

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

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
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: unknown
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C538617
External references:
5 OMIM references -
No MeSH references

Paris-Trousseau thrombocytopenia
Hereditary persistence of fetal hemoglobin - beta-thalassemia

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



Very frequent
- Anaemia
- Hemoglobinosis / hemoglobinopathy
- Pallor
- Splenomegaly

Frequent
- Anomalies of bones / skeletal anomalies
- Hepatomegaly / liver enlargement (excluding storage disease)