MCID: QLT001
MIFTS: 28

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 73
Qualitative Platelet Defects 55

Classifications:



External Ids:

Disease Ontology 12 DOID:11125
ICD10 33 D69.1
ICD9CM 35 287.1
UMLS 73 C0235604

Summaries for Qualitative Platelet Defect

MalaCards based summary : Qualitative Platelet Defect, also known as qualitative platelet deficiency, is related to blood platelet disease and gray platelet syndrome. 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 Blood Substitutes and Plasma Substitutes 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 blood platelet disease 31.2 WDTC1 VWF SELP F3 F2
2 gray platelet syndrome 30.7 VWF SELP CD36
3 glanzmann thrombasthenia 30.4 VWF SELP F3 F2
4 von willebrand's disease 29.2 VWF SELP F3 F2
5 thrombosis 29.2 VWF SELP F3 F2
6 bleeding disorder, platelet-type, 18 10.6
7 storage pool platelet disease 10.4
8 bleeding disorder, platelet-type, 17 10.4
9 bernard-soulier syndrome 10.4
10 quebec platelet disorder 10.4
11 white platelet syndrome 10.4
12 isolated delta-storage pool disease 10.4
13 medich giant platelet syndrome 10.4
14 intracranial thrombosis 10.1 F3 VWF
15 active peptic ulcer disease 10.1 VWF F2
16 brachydactyly, type d 10.1 F2 VWF
17 caffey disease 10.1 CD36 F3
18 factor viii deficiency 10.1 F2 VWF
19 coronary thrombosis 10.1 F3 VWF
20 hemorrhagic fever 10.1 F2 F3
21 hemophilia a 10.1 F3 VWF
22 spotted fever 10.1 F2 VWF
23 cerebral falx meningioma 10.1 F3 F2
24 von willebrand disease, type 3 10.1 F3 VWF
25 fournier gangrene 10.1 F3 F2
26 intestinal impaction 10.1 F3 F2
27 prothrombin deficiency 10.1 F3 F2
28 leech infestation 10.1 F3 F2
29 cerebral sinovenous thrombosis 10.1 F3 F2
30 giant hemangioma 10.1 F3 F2
31 sagittal sinus thrombosis 10.1 F3 F2
32 femoral neuropathy 10.1 F2 F3
33 blue toe syndrome 10.1 F3 F2
34 hantavirus pulmonary syndrome 10.1 F2 F3
35 anterior cranial fossa meningioma 10.1 F2 F3
36 marantic endocarditis 10.1 F2 F3
37 vascular hemostatic disease 10.1 F2 F3
38 splenic disease 10.1 F2 F3
39 purpura fulminans 10.1 F2 F3
40 hepatic infarction 10.1 F2 F3
41 peripheral vertigo 10.1 F2 F3
42 blood protein disease 10.1 F2 F3
43 endocardium disease 10.1 F2 F3
44 alveolar echinococcosis 10.1 CD36 HLA-A
45 analbuminemia 10.1 F2 F3
46 pulmonary artery disease 10.0 F2 F3
47 factor xi deficiency 10.0 F2 F3
48 retinitis pigmentosa, y-linked 10.0 F2 WDTC1
49 von willebrand disease, type 2 10.0 VWF F3 CD36
50 squamous cell papilloma 10.0 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:

46
# 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 Blood Substitutes Not Applicable
2 Plasma Substitutes Not Applicable
3 Polygeline Not Applicable
4 Pharmaceutical Solutions Not Applicable
5 Krestin
6 Antiviral Agents
7 Anti-Bacterial Agents
8 Adjuvants, Immunologic
9 Radiation-Protective Agents
10 Antibodies
11 Antibiotics, Antitubercular
12 Immunologic Factors
13 Anti-Infective Agents
14 Immunoglobulins
15 Antibodies, Monoclonal
16 Platelet Aggregation Inhibitors
17 Protective Agents
18 interferons
19 Interferon Inducers

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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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