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Alpha-thalassemia - myelodysplastic syndrome
1 OMIM reference -
1 associated gene
32 connected diseases
12 signs/symptoms
Disease Type of connection
Alpha-thalassemia - X-linked intellectual deficit syndrome
Carpenter-Waziri syndrome
Chudley-Lowry-Hoar syndrome
Holmes-Gang syndrome
Juberg-Marsidi syndrome
Smith-Fineman-Myers syndrome
Hereditary breast and ovarian cancer syndrome
Cornelia de Lange syndrome
Familial congenital mirror movements
Weaver syndrome
Ataxia-telangiectasia-like disorder
Nijmegen breakage syndrome-like disorder
Familial prostate cancer
Nijmegen breakage syndrome
Bloom syndrome
Acute promyelocytic leukemia
2q37 microdeletion syndrome
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Monomelic amyotrophy
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Severe combined immunodeficiency due to DNA-PKcs deficiency
Short rib-polydactyly syndrome, Majewski type
Werner syndrome
Catecholaminergic polymorphic ventricular tachycardia
Dentatorubral pallidoluysian atrophy
Synonym(s):
- ATMDS
- Acquired HbH disease
- Acquired hemoglobin H 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 -
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 -
No MeSH references
Gene symbol UniProt reference OMIM reference
ATRX P46100300032
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
- Neoplasms / tumors
- Splenomegaly