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3 OMIM references -
2 associated genes
16 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
12 signs/symptoms
Li-Fraumeni syndrome
Alpha-thalassemia - myelodysplastic syndrome

CHEK2 ATRX
TP53


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Li-Fraumeni syndrome
CHEK2 TP53
Alpha-thalassemia - myelodysplastic syndrome
ATRX



Li-Fraumeni syndrome
Alpha-thalassemia - myelodysplastic syndrome

Synonym(s):
(no synonyms)

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

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- 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:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: sporadic

External references:
3 OMIM references -
1 MeSH reference: D016864
External references:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Acute leukemia
- Neoplasms / tumors


Li-Fraumeni syndrome
Alpha-thalassemia - myelodysplastic syndrome

Very frequent
- Autosomal dominant inheritance
- Bone / osseous neoplasm / tumor / carcinoma / cancer
- Breast neoplasm / tumor / carcinoma / cancer
- Central nervous system / peripheral nerves neoplasm / tumor / carcinoma / cancer
- Colon neoplasm / tumor / carcinoma / cancer
- Cortical adrenal neoplasm / tumor / carcinoma / cancer
- Lymphoma
- Pancreatic / pancreas neoplasm / tumor / carcinoma / cancer
- Sarcoma
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma

Occasional
- Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer
- Melanoma
- Oropharyngeal neoplasm / tumor / carcinoma / cancer


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
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Splenomegaly