MCID: QLT001
MIFTS: 32

Qualitative Platelet Defect malady

Categories: Immune diseases, Blood diseases

Aliases & Classifications for Qualitative Platelet Defect

Aliases & Descriptions for Qualitative Platelet Defect:

Name: Qualitative Platelet Defect 12 14
Qualitative Platelet Deficiency Nos 12
Qualitative Platelet Deficiency 69
Qualitative Platelet Defects 52

Classifications:



External Ids:

Disease Ontology 12 DOID:11125
ICD10 33 D69.1
ICD9CM 35 287.1
UMLS 69 C0235604

Summaries for Qualitative Platelet Defect

MalaCards based summary : Qualitative Platelet Defect, also known as qualitative platelet deficiency nos, is related to gray platelet syndrome and quebec platelet disorder. 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 Pharmaceutical Solutions and Plasma Substitutes have been mentioned in the context of this disorder. Related phenotypes are hematopoietic system and 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 105)
id Related Disease Score Top Affiliating Genes
1 gray platelet syndrome 10.3
2 quebec platelet disorder 10.3
3 bleeding disorder, platelet-type, 18 10.3
4 glanzmann thrombasthenia 10.3
5 hypertrichosis 10.2 F3 VWF
6 secretory diarrhea myopathy and deafness 10.2 F3 VWF
7 small intestinal l-cell glucagon-like peptide producing tumor 10.2 F2 VWF
8 monocular exotropia 10.2 F3 VWF
9 ceroid lipofuscinosis, neuronal, 11 10.2 CD36 F3
10 hemarthrosis 10.2 F2 F3
11 influenza 10.2 F2 F3
12 freiberg's disease 10.2 F2 F3
13 pancreatic ductal carcinoma 10.2 F2 F3
14 chorioretinal scar 10.2 F2 F3
15 hendra virus infection 10.2 F2 F3
16 pulpitis 10.2 F2 VWF
17 mixed hepatoblastoma 10.2 F2 F3
18 dyskinetic cerebral palsy 10.1 F2 F3
19 stroke, ischemic 10.1 F2 F3
20 dmd-related dilated cardiomyopathy 10.1 F2 F3
21 spinal cord lipoma 10.1 F2 F3
22 sporotrichosis 10.1 F2 F3
23 midline cystocele 10.1 F2 F3
24 chronic inflammatory demyelinating polyneuritis 10.1 F2 F3
25 seminoma 10.1 F2 F3
26 brain stem cancer 10.1 F2 F3
27 ductal carcinoma in situ 10.1 F2 F3
28 bernard-soulier syndrome, type c 10.1
29 bleeding disorder, platelet-type, 17 10.1
30 storage pool platelet disease 10.1
31 white platelet syndrome 10.1
32 isolated delta-storage pool disease 10.1
33 medich giant platelet syndrome 10.1
34 blepharoconjunctivitis 10.1 F2 F3
35 intestinal disaccharidase deficiency 10.1 F2 F3
36 kondoh syndrome 10.1 F2 WDTC1
37 spinocerebellar ataxia 27 10.1 F2 F3
38 mobitz type ii atrioventricular block 10.1 F2 F3
39 retinal arterial macroaneurysm with supravalvular pulmonic stenosis 10.1 F2 F3
40 artery disease 10.1 F2 F3
41 vcl-related dilated cardiomyopathy 10.1 SELP VWF
42 red color blindness 10.1 F2 F3
43 hereditary alpha tryptasemia syndrome 10.1 F2 F3
44 scapuloperoneal myopathy, x-linked dominant 10.1 F2 F3
45 capillary hemangioma 10.1 F2 F3
46 pregnancy loss, recurrent 2 10.0 F2 F3
47 severe nonproliferative diabetic retinopathy 10.0 SELP VWF
48 alpha-2-macroglobulin deficiency 10.0 F2 F3 VWF
49 fletcher factor deficiency 10.0 F2 F3 VWF
50 myotonic dystrophy 10.0 F2 F3 VWF

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.43 CD36 F2 F3 SELP VWF WDTC1
2 nervous system MP:0003631 9.1 F2 F3 RBM8A SELP VWF CD36

Drugs & Therapeutics for Qualitative Platelet Defect

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

(show all 6)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions
2 Plasma Substitutes
3 Polygeline
4 Blood Substitutes
5 Mitogens
6 Astragalus Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Cohort Study Comparing Short Daily Hemodialysis (HD) With Conventional HD Unknown status NCT00182156
2 Comparison of the Effects of Gelatine Versus Balanced Crystalloid Solution for Volume Therapy Unknown status NCT02461329
3 Platelet Function in Minimal Extracorporeal Circulation in CABG Completed NCT01935245
4 Thrombocytopathy in Gaucher Disease Patients Recruiting NCT01344096
5 The Genetics and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell, and Blood Clotting Disorders. Recruiting NCT00230165
6 "One-step" Bone Marrow Mononuclear Cell Transplantation in Talar Osteochondral Lesions Recruiting NCT02005861

Search NIH Clinical Center for Qualitative Platelet Defect

Genetic Tests for Qualitative Platelet Defect

Anatomical Context for Qualitative Platelet Defect

Publications for Qualitative Platelet Defect

Articles related to Qualitative Platelet Defect:

id Title Authors Year
1
Qualitative platelet defect and thrombohaemorrhagic complications in a patient with polycythaemia vera. Case 10. ( 12923585 )
2003
2
Qualitative platelet defect in a case of heparin-induced thrombocytopenia. ( 6407097 )
1983
3
Oozing and bruising: von Willebrand disease and qualitative platelet defect. ( 6606134 )
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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.4 F2 SELP
2 positive regulation of reactive oxygen species metabolic process GO:2000379 9.37 CD36 F2
3 platelet degranulation GO:0002576 9.33 CD36 SELP VWF
4 blood coagulation, intrinsic pathway GO:0007597 9.32 F2 VWF
5 positive regulation of blood coagulation GO:0030194 9.26 CD36 F2
6 hemostasis GO:0007599 9.13 F2 F3 VWF
7 blood coagulation GO:0007596 8.92 CD36 F2 F3 VWF

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

id Name GO ID Score Top Affiliating Genes
1 glycoprotein binding GO:0001948 9.16 SELP VWF
2 lipopolysaccharide binding GO:0001530 8.96 F2 SELP
3 thrombospondin receptor activity GO:0070053 8.62 CD36 F2

Sources for Qualitative Platelet Defect

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....