MCID: QLT001
MIFTS: 33

Qualitative Platelet Defect

Categories: Blood diseases, Immune diseases

Aliases & Classifications for Qualitative Platelet Defect

MalaCards integrated aliases for Qualitative Platelet Defect:

Name: Qualitative Platelet Defect 12 15
Qualitative Platelet Deficiency 12 74
Qualitative Platelet Defects 56

Classifications:



External Ids:

Disease Ontology 12 DOID:11125
ICD9CM 36 287.1
ICD10 34 D69.1
UMLS 74 C0235604

Summaries for Qualitative Platelet Defect

MalaCards based summary : Qualitative Platelet Defect, also known as qualitative platelet deficiency, is related to gray platelet syndrome and blood platelet disease. An important gene associated with Qualitative Platelet Defect is VWF (Von Willebrand Factor), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Formation of Fibrin Clot (Clotting Cascade). The drugs Polygeline and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotype is nervous system.

Related Diseases for Qualitative Platelet Defect

Diseases related to Qualitative Platelet Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 113)
# Related Disease Score Top Affiliating Genes
1 gray platelet syndrome 30.8 CD36 SELP VWF
2 blood platelet disease 30.8 F2 F3 SELP VWF WDTC1
3 glanzmann thrombasthenia 30.1 F2 F3 SELP VWF
4 purpura 29.4 F2 F3 VWF
5 von willebrand's disease 28.9 F2 F3 SELP VWF
6 thrombosis 28.9 F2 F3 SELP VWF
7 bleeding disorder, platelet-type, 18 10.6
8 storage pool platelet disease 10.5
9 bleeding disorder, platelet-type, 17 10.5
10 bernard-soulier syndrome 10.5
11 quebec platelet disorder 10.5
12 white platelet syndrome 10.5
13 isolated delta-storage pool disease 10.5
14 medich giant platelet syndrome 10.5
15 intracranial thrombosis 10.2 F3 VWF
16 caffey disease 10.2 CD36 F3
17 coronary thrombosis 10.2 F3 VWF
18 hemophilia a 10.2 F3 VWF
19 von willebrand disease, type 3 10.2 F3 VWF
20 platelet aggregation, spontaneous 10.2 SELP VWF
21 alveolar echinococcosis 10.2 CD36 HLA-A
22 primary thrombocytopenia 10.1 SELP VWF
23 autoimmune disease of blood 10.1 SELP VWF
24 carotid artery thrombosis 10.1 F3 SELP
25 von willebrand disease, type 2 10.1 CD36 F3 VWF
26 active peptic ulcer disease 10.0 F2 VWF
27 brachydactyly, type d 10.0 F2 VWF
28 factor viii deficiency 10.0 F2 VWF
29 takayasu arteritis 10.0 HLA-A VWF
30 spotted fever 10.0 F2 VWF
31 cerebral falx meningioma 10.0 F2 F3
32 leech infestation 10.0 F2 F3
33 prothrombin deficiency 10.0 F2 F3
34 intestinal impaction 10.0 F2 F3
35 fournier gangrene 10.0 F2 F3
36 cerebral sinovenous thrombosis 10.0 F2 F3
37 giant hemangioma 10.0 F2 F3
38 sagittal sinus thrombosis 10.0 F2 F3
39 blue toe syndrome 10.0 F2 F3
40 femoral neuropathy 10.0 F2 F3
41 hantavirus pulmonary syndrome 10.0 F2 F3
42 anterior cranial fossa meningioma 10.0 F2 F3
43 marantic endocarditis 10.0 F2 F3
44 vascular hemostatic disease 10.0 F2 F3
45 splenic disease 10.0 F2 F3
46 purpura fulminans 10.0 F2 F3
47 hepatic infarction 9.9 F2 F3
48 peripheral vertigo 9.9 F2 F3
49 blood protein disease 9.9 F2 F3
50 endocardium disease 9.9 F2 F3

Comorbidity relations with Qualitative Platelet Defect via Phenotypic Disease Network (PDN):


Active Peptic Ulcer Disease Acute Cystitis
Deficiency Anemia Heart Disease
Ischemic Heart Disease

Graphical network of the top 20 diseases related to Qualitative Platelet Defect:



Diseases related to Qualitative Platelet Defect

Symptoms & Phenotypes for Qualitative Platelet Defect

MGI Mouse Phenotypes related to Qualitative Platelet Defect:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.1 CD36 F2 F3 RBM8A SELP VWF

Drugs & Therapeutics for Qualitative Platelet Defect

Drugs for Qualitative Platelet Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Polygeline Not Applicable
2 Pharmaceutical Solutions Not Applicable
3 Plasma Substitutes Not Applicable
4 Blood Substitutes Not Applicable
5 polysaccharide-K
6 Radiation-Protective Agents
7 Anti-Infective Agents
8 Protective Agents
9 Antibodies, Monoclonal
10 Antibiotics, Antitubercular
11 Anti-Bacterial Agents
12 Immunologic Factors
13 Interferon Inducers
14 Immunoglobulins
15 interferons
16 Antibodies
17 Platelet Aggregation Inhibitors
18 Adjuvants, Immunologic
19 Antiviral Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Thrombocytopathy in Gaucher Disease Patients Unknown status NCT01344096
2 Comparison of the Effects of Gelatine Versus Balanced Crystalloid Solution for Volume Therapy Unknown status NCT02461329 Not Applicable Gelofusine® B. Braun;Ringerfundin ® B. Braun
3 Cohort Study Comparing Short Daily Hemodialysis (HD) With Conventional HD Unknown status NCT00182156
4 Platelet Function in Minimal Extracorporeal Circulation in CABG Completed NCT01935245 Not Applicable
5 Platelet Glycoproteins in Inherited Thrombocytopathy: Association With Aggregation Studies and Bleeding Severity Recruiting NCT03648190
6 Platelet Dysfunction in Blood Donors Recruiting NCT03599219 Not Applicable

Search NIH Clinical Center for Qualitative Platelet Defect

Genetic Tests for Qualitative Platelet Defect

Anatomical Context for Qualitative Platelet Defect

MalaCards organs/tissues related to Qualitative Platelet Defect:

42
Heart

Publications for Qualitative Platelet Defect

Articles related to Qualitative Platelet Defect:

# Title Authors Year
1
Qualitative platelet defect and thrombohaemorrhagic complications in a patient with polycythaemia vera. Case 10. ( 12923585 )
2003
2
Oozing and bruising: von Willebrand disease and qualitative platelet defect. ( 6606134 )
1983
3
Qualitative platelet defect in a case of heparin-induced thrombocytopenia. ( 6407097 )
1983
4
A qualitative platelet defect in severe vitamin B 12 deficiency. Response, hyperresponse, and thrombosis after vitamin B 12 therapy. ( 4632789 )
1973
5
The bleeding disorder of uraemia. A qualitative platelet defect. ( 4161020 )
1966
6
A hemorrhagic diathesis due to a qualitative platelet defect. ( 12997529 )
1952

Variations for Qualitative Platelet Defect

Expression for Qualitative Platelet Defect

Search GEO for disease gene expression data for Qualitative Platelet Defect.

Pathways for Qualitative Platelet Defect

GO Terms for Qualitative Platelet Defect

Cellular components related to Qualitative Platelet Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.13 CD36 F2 SELP
2 platelet alpha granule membrane GO:0031092 8.62 CD36 SELP

Biological processes related to Qualitative Platelet Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.43 F2 SELP
2 positive regulation of reactive oxygen species metabolic process GO:2000379 9.4 CD36 F2
3 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.37 CD36 HLA-A
4 platelet degranulation GO:0002576 9.33 CD36 SELP VWF
5 blood coagulation, intrinsic pathway GO:0007597 9.32 F2 VWF
6 positive regulation of blood coagulation GO:0030194 9.26 CD36 F2
7 hemostasis GO:0007599 9.13 F2 F3 VWF
8 blood coagulation GO:0007596 8.92 CD36 F2 F3 VWF

Molecular functions related to Qualitative Platelet Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipopolysaccharide binding GO:0001530 8.96 F2 SELP
2 thrombospondin receptor activity GO:0070053 8.62 CD36 F2

Sources for Qualitative Platelet Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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