Disease Information for Gray platelet/Hermansky-Pudlak syndrome

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Clinical Manifestations
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Diagnostic Blood Smear
PFA100 (Platelet Function Assay/?) abnormal
Platelet ADP low dose aggregation abnorm (Lab)
Platelet/deficient dense granules/gray (Lab)
URINE Ceroid like substance present
Abnormal Lab Findings - Decreased
Platelet count (Lab)
Abnormal Lab Findings - Increased
Platelet Closure Time
Diagnostic Test Results
Pathology
PATH/Ceroid like pigment/macrophages/tissue pathology
PATH/Ceroid-like substance deposit/oral mucosa
PATH/Ceroid-like deposit RES
Associated Diseases & Rule outs
Associated Disease & Complications
Albinism
Bleeding diathesis/hemorrhagic diathesis
Bleeding Tendency
Bone Marrow Fibrosis
Hermansky-Pudlak syndrome
Myelofibrosis
Neonatal thrombocytopenia
Ocular albinism
Platelet manifestation/defect
Thrombocytopenia
Thrombocytopenia in Children
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Dermatologic/Subcutaneous (category)
CLASS/Hematologic (category)
CLASS/Platelet disorder (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Glutathione peroxidase/defect
Pathophysiology/Platelet ADP dense granule deficiency
Process
PROCESS/Aminoacid metabolic disorder (ex)
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Hereditofamilial (category)
PROCESS/Albinism disorders (ex).
Synonyms
Synonym
Albinism with haemorrhagic diathesis, Albinism with hemorrhagic diathesis, ALBINISM WITH HEMORRHAGIC DIATHESIS AND PIGMENTED RETICULOENDOTHELIAL CELLS, Alpha storage pool disease, H P S, Hermanski Pudlak Syndrome, Hermansky Pudlack syndrome, Hermansky Pudlack syndrome RETIRED, Hermansky Pudlak, Hermansky Pudlak Syndrome, Hermansky Pudlak syndrome (disorder), HPS, HPS (Hermansky Pudlak syndrome), Synonym/Gray platelet syndrome, Synonym/Hermansky-Pudlak syndrome/gray platelets, Synonym/Oculocutaneous albinism, Synonym/Oculocutaneus albinism/OCA, Synonym/Tyrosinase positive albinism/OCA
Definition
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External Links Related to Gray platelet/Hermansky-Pudlak syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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