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1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
12 signs/symptoms
Carpenter-Waziri syndrome
Alpha-thalassemia - myelodysplastic syndrome

ATRX ATRX


COMMON
GENES
ATRX



Citations in the biomedical literature:


Carpenter-Waziri syndrome
ATRX
Alpha-thalassemia - myelodysplastic syndrome



Carpenter-Waziri syndrome
Alpha-thalassemia - myelodysplastic syndrome

Synonym(s):
(no synonyms)

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

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

Classification (ICD10):
(no data available)
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: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
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
External references:
1 OMIM reference -
No MeSH references

Alpha-thalassemia - myelodysplastic syndrome

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


Carpenter-Waziri syndrome

(no data available)