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Alpha delta granule deficiency

Disease definition

A rare hemorrhagic disorder due to a constitutional platelet anomaly characterized by moderate to severe deficiency in both platelet alpha-granules and dense bodies, resulting in impaired platelet function and decreased aggregation responses. Patients present increased bleeding tendency with symptoms like easy bruising, or menorrhagia.

ORPHA:734

Classification level: Disorder
  • Synonym(s):
    • Alpha dense granule deficiency
    • Combined alpha-delta platelet storage pool deficiency
  • Prevalence: -
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: -
  • ICD-10: D69.1
  • ICD-11: 3B62.4
  • OMIM: 185050
  • UMLS: C5680090
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2020) Español (2020) Français (2020) Nederlands (2020)

Detailed information

Guidelines

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.