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Congenital amegakaryocytic thrombocytopenia

Disease definition

An isolated constitutional thrombocytopenia characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.

ORPHA:3319

Classification level: Disorder
  • Synonym(s):
    • CAMT
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: D61.0
  • OMIM: 604498
  • UMLS: C1327915
  • MeSH: C535982
  • GARD: 640
  • MedDRA: -

Detailed information

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