Gray platelet syndrome

disorder

SNOMED 51720005CUI C0272302

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Syndromes, Gray Platelet" from the MEDLINE/PubMed database.

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Immune dysregulation, autoimmunity, and granule defects in gray platelet syndrome.

[object Object], [object Object], [object Object] · J Thromb Haemost · 2023

PMID: 37028650Review

Sorting machineries: how platelet-dense granules differ from α-granules.

[object Object], [object Object], [object Object] · Biosci Rep · 2018

PMID: 30104399ReviewFull text (PMC)

NBEAL2 mutations and bleeding in patients with gray platelet syndrome.

[object Object], [object Object], [object Object] et al. · Platelets · 2018

PMID: 29869935Review

α-granule biogenesis: from disease to discovery.

[object Object], [object Object], [object Object] et al. · Platelets · 2017

PMID: 28277061Review

Platelet granules - secretory and secretive.

[object Object] · Hamostaseologie · 2017

PMID: 27656707Review

Super-resolution microscopy in the diagnosis of platelet granule disorders.

[object Object], [object Object], [object Object] · Expert Rev Hematol · 2017

PMID: 28374619ReviewFull text (PMC)

Should any genetic defect affecting α-granules in platelets be classified as gray platelet syndrome?

[object Object], [object Object] · Am J Hematol · 2016

PMID: 26971401Review

Genetics of familial forms of thrombocytopenia.

[object Object], [object Object] · Hum Genet · 2012

PMID: 22886561Review

[Advances in grey platelet syndrome].

[object Object], [object Object] · Zhonghua Xue Ye Xue Za Zhi · 2012

PMID: 22967394Review

Thrombocytopenias due to gray platelet syndrome or THC2 mutations.

[object Object], [object Object] · Semin Thromb Hemost · 2011

PMID: 22102272Review

Search all PubMed articles for Gray platelet syndrome

Research data from MEDLINE/PubMed

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Bleeding tendency

Very frequent (80-99%)HP:0001892

Low platelet count

Very frequent (80-99%)HP:0001873

Thrombasthenia

Very frequent (80-99%)HP:0001872

Large spleen

Frequent (30-79%)HP:0001744

Menstrual abnormalities

Frequent (30-79%)HP:0000140

Myelodysplasia

Frequent (30-79%)HP:0002863

Nasal hemorrhage

Frequent (30-79%)HP:0000421

Abnormal number of alpha granules

HP:0012528

Bruising susceptibility

HP:0000978

Hypermenorrhea

HP:0000132

Impaired collagen-induced platelet aggregation

HP:0008320

Impaired thrombin-induced platelet aggregation

HP:0011872

Increased bleeding time

HP:0003010

Myelofibrosis

HP:0011974

Reduced quantity of Von Willebrand factor

HP:0012147

Reduced von Willebrand factor activity

HP:0008330

Related Conditions

Medich giant platelet syndrome(child)

Platelet storage pool defect(parent)

Quick Facts

SNOMED CT: 51720005
UMLS CUI: C0272302
Fully Specified Name: Gray platelet syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.