MCID: QLT001
MIFTS: 29

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 71
Qualitative Platelet Defects 54 32

Classifications:



External Ids:

Disease Ontology 12 DOID:11125
ICD9CM 34 287.1
ICD10 32 D69.1
UMLS 71 C0235604

Summaries for Qualitative Platelet Defect

MalaCards based summary : Qualitative Platelet Defect, also known as qualitative platelet deficiency, is related to bleeding disorder, platelet-type, 18 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 Integrin alphaIIb beta3 signaling. 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 168)
# Related Disease Score Top Affiliating Genes
1 bleeding disorder, platelet-type, 18 31.5 WDTC1 VWF
2 gray platelet syndrome 30.4 WDTC1 VWF THPO PF4
3 glanzmann thrombasthenia 30.1 VWF PF4 F7 F3 F2
4 blood platelet disease 30.1 WDTC1 VWF THPO PF4 F7 F3
5 heparin-induced thrombocytopenia 30.1 PF4 F3
6 purpura 29.5 VWF THPO F3 F2
7 bernard-soulier syndrome 29.4 WDTC1 VWF THPO F7 F3 F2
8 thrombocytopenia 28.9 VWF THPO PF4 F3 F2
9 von willebrand's disease 28.8 VWF PF4 F7 F3 F2
10 thrombocytosis 28.7 VWF THPO PF4 F3 F2
11 rare hemorrhagic disorder due to a qualitative platelet defect 12.5
12 storage pool platelet disease 10.6
13 bleeding disorder, platelet-type, 17 10.6
14 quebec platelet disorder 10.6
15 white platelet syndrome 10.6
16 isolated delta-storage pool disease 10.6
17 isolated hereditary giant platelet disorder 10.6
18 medich giant platelet syndrome 10.6
19 rare hemorrhagic disorder due to a constitutional platelet anomaly 10.6
20 alpha granule disease 10.6
21 dense granule disease 10.6
22 medulloadrenal hyperfunction 10.4 VWF F3
23 thrombasthenia 10.3 F3 F2
24 achenbach syndrome 10.3 F3 F2
25 fournier gangrene 10.3 F3 F2
26 renal pelvis squamous cell carcinoma 10.3 F3 F2
27 blue toe syndrome 10.3 F3 F2
28 emphysematous cholecystitis 10.3 F3 F2
29 femoral neuropathy 10.3 F3 F2
30 lateral sinus thrombosis 10.3 F3 F2
31 giant hemangioma 10.3 F3 F2
32 waterhouse-friderichsen syndrome 10.3 F3 F2
33 cavernous sinus thrombosis 10.3 F3 F2
34 hemopneumothorax 10.3 F3 F2
35 angiodysplasia 10.3 VWF F3
36 lemierre's syndrome 10.3 F3 F2
37 gastric hemangioma 10.3 F3 F2
38 hepatic infarction 10.3 F3 F2
39 ankylosing spondylitis 1 10.3 F3 F2
40 intracranial sinus thrombosis 10.3 F3 F2
41 hemopericardium 10.3 F3 F2
42 epidural abscess 10.3 F3 F2
43 cerebral sinovenous thrombosis 10.3 F3 F2
44 sagittal sinus thrombosis 10.3 F3 F2
45 mediastinitis 10.3 F3 F2
46 cerebral falx meningioma 10.3 F3 F2
47 intracranial hypotension 10.3 F3 F2
48 intracranial embolism 10.3 F3 F2
49 splenic infarction 10.3 F3 F2
50 hepatic coma 10.3 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:

40
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. 61
27479822 2016
2
Qualitative platelet defect and thrombohaemorrhagic complications in a patient with polycythaemia vera. Case 10. 61
12923585 2003
3
Assessment of primary hemostasis by PFA-100 analysis in a tertiary care center. 54
10928477 2000
4
Acetylsalicylic-acid-containing drugs and nonsteroidal anti-inflammatory drugs available in Canada. 61
9099173 1997
5
Endothelial cell injury in cardiovascular surgery: the procoagulant response. 61
8893613 1996
6
Hematologic aspects of end-stage renal failure. 61
8061105 1994
7
Modulation of platelet surface adhesion receptors during cardiopulmonary bypass. 61
1718190 1991
8
[Megaloblastic anemia and platelet function--a qualitative platelet defect in pernicious anemia]. 61
2329689 1990
9
Impaired platelet function associated with parenteral nafcillin. 61
2310173 1990
10
Hematologic aspects of renal insufficiency. 61
2676032 1989
11
Subgaleal hematoma in a child, without skull fracture. 61
3758506 1986
12
Clinical and hematologic findings in canine ehrlichiosis. 61
3972694 1985
13
Oozing and bruising: von Willebrand disease and qualitative platelet defect. 61
6606134 1983
14
Qualitative platelet defect in a case of heparin-induced thrombocytopenia. 61
6407097 1983
15
Transient non-thrombocytopenic purpura in hookworm infestation. 61
6682241 1983
16
Ticarcillin-induced hemorrhage in a patient with thrombocytosis. 61
7403924 1980
17
'Storage pool disease' of platelets. Association with multiple congenital cavernous hemangiomas. 61
7382076 1980
18
Hermansky-Pudlak syndrome. Pulmonary manifestations of a ceroid storage disorder. 61
443250 1979
19
Glanzmann's thrombasthenia. Report of two oral surgical cases using a new microfibrillar collagen preparation and EACA for hemostasis. 61
104220 1979
20
Platelet aggregation in chronic idiopathic thrombocytopenic purpura. 61
372245 1978
21
Syndrome of thrombocytopenia and absent radii: qualitatively normal platelets with remission following spenectomy. 61
625630 1978
22
Spontaneous hyphema associated with ingestion of aspirin and ethanol. 61
970426 1976
23
[Platelet abnormalities in dysproteinemias (author's transl)]. 61
827737 1976
24
Platelets, hemostasis, and thromboembolism during treatment of acute respiratory insufficiency with extracorporeal membrane oxygenation. 61
1177477 1975
25
A Qualitative Platelet Defect in Severe Vitamin B12 Deficiency. 61
31253008 1974
26
A qualitative platelet defect in severe vitamin B 12 deficiency. Response, hyperresponse, and thrombosis after vitamin B 12 therapy. 61
4632789 1973
27
The bleeding disorder of uraemia. A qualitative platelet defect. 61
4161020 1966
28
A hemorrhagic diathesis due to a qualitative platelet defect. 61
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 extracellular region GO:0005576 9.63 VWF THPO PF4 F7 F3 F2
2 collagen-containing extracellular matrix GO:0062023 9.02 VWF PF4 F7 F3 F2
3 serine-type peptidase complex GO:1905286 8.96 F7 F3

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.63 THPO F7 F3
2 platelet activation GO:0030168 9.5 VWF PF4 F2
3 blood coagulation, intrinsic pathway GO:0007597 9.43 VWF F2
4 positive regulation of blood coagulation GO:0030194 9.4 F7 F2
5 positive regulation of positive chemotaxis GO:0050927 9.37 F7 F3
6 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.26 F7 F3
7 blood coagulation GO:0007596 9.26 VWF F7 F3 F2
8 blood coagulation, extrinsic pathway GO:0007598 9.16 F7 F3
9 hemostasis GO:0007599 8.92 VWF F7 F3 F2

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

# Name GO ID Score Top Affiliating Genes
1 serine-type endopeptidase activity GO:0004252 9.13 F7 F3 F2
2 heparin binding GO:0008201 8.8 PF4 HSD17B12 F2

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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