Abnormal dense granules

MedGen UID:: 868491
•Concept ID:: C4022885
•: Anatomical Abnormality

HPO:	HP:0012484

Definition

Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Abnormal dense granules

Phenotypic abnormality
- Abnormality of blood and blood-forming tissues
  - Abnormality of thrombocytes
    - Abnormal platelet morphology
      - Abnormal platelet granules
        Abnormal dense granules
        Abnormal dense granule content
        Abnormal number of dense granules
        Absent platelet dense granules
        Reduced platelet dense granules
        Abnormal platelet dense granule ATP/ADP ratio
        Enlarged platelet dense granules

Conditions with this feature

Chédiak-Higashi syndrome

MedGen UID:: 3347
•Concept ID:: C0007965
•: Disease or Syndrome

Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism, immunodeficiency, and a mild bleeding tendency. Approximately 85% of affected individuals develop the accelerated phase, or hemophagocytic lymphohistiocytosis, a life-threatening, hyperinflammatory condition. All affected individuals including adolescents and adults with atypical CHS and children with classic CHS who have successfully undergone allogenic hematopoietic stem cell transplantation (HSCT) develop neurologic findings during early adulthood.

See: Condition Record

Chédiak-Higashi syndrome