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 72
Qualitative Platelet Defects 55 33

Classifications:



External Ids:

Disease Ontology 12 DOID:11125
ICD9CM 35 287.1
ICD10 33 D69.1
UMLS 72 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). Affiliated tissues include endothelial.

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 111)
# Related Disease Score Top Affiliating Genes
1 blood platelet disease 31.2 VWF F3 F2
2 gray platelet syndrome 31.2 VWF CD36
3 bernard-soulier syndrome 30.3 VWF F2
4 glanzmann thrombasthenia 30.2 VWF F3 F2
5 thrombocytosis 29.2 F3 F2
6 purpura 29.1 VWF F3 F2
7 von willebrand's disease 28.9 VWF F3 F2
8 rare hemorrhagic disorder due to a qualitative platelet defect 12.5
9 bleeding disorder, platelet-type, 18 10.7
10 storage pool platelet disease 10.6
11 bleeding disorder, platelet-type, 17 10.6
12 quebec platelet disorder 10.6
13 white platelet syndrome 10.6
14 isolated delta-storage pool disease 10.6
15 isolated hereditary giant platelet disorder 10.6
16 medich giant platelet syndrome 10.6
17 rare hemorrhagic disorder due to a constitutional platelet anomaly 10.6
18 alpha granule disease 10.6
19 dense granule disease 10.6
20 intracranial thrombosis 10.1 VWF F3
21 grange syndrome 10.1 VWF F3
22 intermediate coronary syndrome 10.1 VWF F3
23 coronary thrombosis 10.1 VWF F3
24 hemophilia a 10.1 VWF F3
25 von willebrand disease, type 3 10.1 VWF F3
26 caffey disease 10.1 F3 CD36
27 thrombotic thrombocytopenic purpura 10.0 VWF F3
28 pernicious anemia 10.0
29 thrombocytopenia 10.0
30 active peptic ulcer disease 10.0 VWF F2
31 brachydactyly, type d 10.0 VWF F2
32 factor viii deficiency 9.9 VWF F2
33 spotted fever 9.9 VWF F2
34 hemolytic-uremic syndrome 9.9 VWF F3
35 venous insufficiency 9.9 VWF F2
36 arteries, anomalies of 9.9 VWF F3
37 systemic lupus erythematosus 9.8
38 thrombocytopenic purpura, autoimmune 9.8
39 scott syndrome 9.8
40 wiskott-aldrich syndrome 9.8
41 deficiency anemia 9.8
42 vitamin b12 deficiency 9.8
43 megaloblastic anemia 9.8
44 heparin-induced thrombocytopenia 9.8
45 intermittent claudication 9.8 VWF F2
46 cerebral falx meningioma 9.8 F3 F2
47 fournier gangrene 9.8 F3 F2
48 intestinal impaction 9.8 F3 F2
49 prothrombin deficiency 9.8 F3 F2
50 leech infestation 9.8 F3 F2

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


Active Peptic Ulcer Disease Acute Cystitis
Deficiency Anemia 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

Drugs & Therapeutics for Qualitative Platelet Defect

Search Clinical Trials , 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
Endothelial

Publications for Qualitative Platelet Defect

Articles related to Qualitative Platelet Defect:

(show all 28)
# Title Authors PMID Year
1
Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects. 38
27479822 2016
2
Qualitative platelet defect and thrombohaemorrhagic complications in a patient with polycythaemia vera. Case 10. 38
12923585 2003
3
Assessment of primary hemostasis by PFA-100 analysis in a tertiary care center. 9
10928477 2000
4
Acetylsalicylic-acid-containing drugs and nonsteroidal anti-inflammatory drugs available in Canada. 38
9099173 1997
5
Endothelial cell injury in cardiovascular surgery: the procoagulant response. 38
8893613 1996
6
Hematologic aspects of end-stage renal failure. 38
8061105 1994
7
Modulation of platelet surface adhesion receptors during cardiopulmonary bypass. 38
1718190 1991
8
[Megaloblastic anemia and platelet function--a qualitative platelet defect in pernicious anemia]. 38
2329689 1990
9
Impaired platelet function associated with parenteral nafcillin. 38
2310173 1990
10
Hematologic aspects of renal insufficiency. 38
2676032 1989
11
Subgaleal hematoma in a child, without skull fracture. 38
3758506 1986
12
Clinical and hematologic findings in canine ehrlichiosis. 38
3972694 1985
13
Oozing and bruising: von Willebrand disease and qualitative platelet defect. 38
6606134 1983
14
Qualitative platelet defect in a case of heparin-induced thrombocytopenia. 38
6407097 1983
15
Transient non-thrombocytopenic purpura in hookworm infestation. 38
6682241 1983
16
Ticarcillin-induced hemorrhage in a patient with thrombocytosis. 38
7403924 1980
17
'Storage pool disease' of platelets. Association with multiple congenital cavernous hemangiomas. 38
7382076 1980
18
Hermansky-Pudlak syndrome. Pulmonary manifestations of a ceroid storage disorder. 38
443250 1979
19
Glanzmann's thrombasthenia. Report of two oral surgical cases using a new microfibrillar collagen preparation and EACA for hemostasis. 38
104220 1979
20
Platelet aggregation in chronic idiopathic thrombocytopenic purpura. 38
372245 1978
21
Syndrome of thrombocytopenia and absent radii: qualitatively normal platelets with remission following spenectomy. 38
625630 1978
22
Spontaneous hyphema associated with ingestion of aspirin and ethanol. 38
970426 1976
23
[Platelet abnormalities in dysproteinemias (author's transl)]. 38
827737 1976
24
Platelets, hemostasis, and thromboembolism during treatment of acute respiratory insufficiency with extracorporeal membrane oxygenation. 38
1177477 1975
25
A Qualitative Platelet Defect in Severe Vitamin B12 Deficiency. 38
31253008 1974
26
A qualitative platelet defect in severe vitamin B 12 deficiency. Response, hyperresponse, and thrombosis after vitamin B 12 therapy. 38
4632789 1973
27
The bleeding disorder of uraemia. A qualitative platelet defect. 38
4161020 1966
28
A hemorrhagic diathesis due to a qualitative platelet defect. 38
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

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

# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 9.43 VWF CD36
2 platelet activation GO:0030168 9.4 VWF F2
3 response to wounding GO:0009611 9.37 VWF F2
4 positive regulation of reactive oxygen species metabolic process GO:2000379 9.32 F2 CD36
5 blood coagulation, intrinsic pathway GO:0007597 9.26 VWF F2
6 positive regulation of blood coagulation GO:0030194 9.16 F2 CD36
7 hemostasis GO:0007599 9.13 VWF F3 F2
8 blood coagulation GO:0007596 8.92 VWF F3 F2 CD36

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

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 8.96 VWF F3
2 thrombospondin receptor activity GO:0070053 8.62 F2 CD36

Sources for Qualitative Platelet Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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