MCID: QLT001
MIFTS: 34

Qualitative Platelet Defect malady

Categories: Immune diseases, Blood diseases

Aliases & Classifications for Qualitative Platelet Defect

About this section

Aliases & Descriptions for Qualitative Platelet Defect:

Name: Qualitative Platelet Defect 10 12
Qualitative Platelet Deficiency Nos 10
 
Qualitative Platelet Deficiency 65
Qualitative Platelet Defects 47

Classifications:



External Ids:

Disease Ontology10 DOID:11125
ICD1027 D69.1
ICD9CM29 287.1
UMLS65 C0235604

Summaries for Qualitative Platelet Defect

About this section
MalaCards based summary: Qualitative Platelet Defect, also known as qualitative platelet deficiency nos, is related to bernard-soulier syndrome, type c and glanzmann thrombasthenia. An important gene associated with Qualitative Platelet Defect is VWF (Von Willebrand Factor), and among its related pathways are Platelet Adhesion to exposed collagen and GP1b-IX-V activation signalling. Affiliated tissues include bone, cortex and bone marrow, and related mouse phenotypes are homeostasis/metabolism and hematopoietic system.

Related Diseases for Qualitative Platelet Defect

About this section

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

(show top 50)    (show all 153)
idRelated DiseaseScoreTop Affiliating Genes
1bernard-soulier syndrome, type c30.8F2, GP1BA, ITGA2B, VWF
2glanzmann thrombasthenia10.8
3gray platelet syndrome10.6
4quebec platelet disorder10.6
5white platelet syndrome10.6
6isolated delta-storage pool disease10.6
7medich giant platelet syndrome10.6
8bleeding disorder due to caldag-gefi deficiency10.6
9alpha delta granule deficiency10.6
10mediterranean macrothrombocytopenia10.6
11acral dysostosis dyserythropoiesis syndrome10.4GP1BA, VWF
12split-hand/foot malformation with long bone deficiency 310.4GP1BA, VWF
13benign pericardial teratoma10.4F3, VWF
14angioedema, hereditary, type iii10.4F3, VWF
15congenital chloride diarrhea10.4F3, VWF
16central nervous system osteosarcoma10.4F2, F3
17esophagus melanoma10.4F2, F3
18epiglottitis10.4F2, F3
19cyclothymic disorder10.4F2, F3
20fowler's syndrome10.4F2, F3
21vaginal villous adenoma10.4F2, F3
22cavernous hemangioma of colon10.4F2, F3
23dysthymic disorder10.4F2, VWF
24silo filler's disease10.4F2, F3
25herpes gestationis10.4F2, F3
26abducens nerve neoplasm10.4F2, F3
27hypertrichosis10.4F2, F3
28microcytic anemia10.4F2, F3
29splenic abscess10.4F2, F3
30skull base meningioma10.4F2, F3
31granulomatous hepatitis10.4F2, F3
32luminal breast carcinoma10.4F2, F3
33heterotopia, periventricular10.4F3, VWF
34facioscapulohumeral muscular dystrophy 110.4F2, F3
35pre-malignant neoplasm10.4F2, F3
36bubonic plague10.4F3, VWF
37kidney sarcoma10.4F2, F3
38fetal antihypertensive drugs syndrome10.3GP1BA, ITGA2B
39short stature due to primary acid-labile subunit deficiency10.3GP1BA, ITGA2B
40meniere's disease10.3F2, F3
41glossopharyngeal nerve neoplasm10.3F3, ITGA2B
42oral squamous cell carcinoma10.3F2, GP1BA
43vertebral artery insufficiency10.3F2, F3
44tricuspid valve disease10.3F2, F3
45thrombophilia10.3F2, F3
46autoimmune disease of cardiovascular system10.3GP1BA, ITGA2B
47corneal argyrosis10.3F2, ITGA2B
48thrombophilia, x-linked, due to factor ix defect10.3F2, F3
49islet cell tumor10.3F2, GP1BA
50postcricoid region cancer10.3F2, F3

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



Diseases related to qualitative platelet defect

Symptoms for Qualitative Platelet Defect

About this section

Drugs & Therapeutics for Qualitative Platelet Defect

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1MitogensPhase 31386
2AstragalusNutraceuticalPhase 348
3Pharmaceutical Solutions7004

Interventional clinical trials:

idNameStatusNCT IDPhase
1"One-step" Bone Marrow Mononuclear Cell Transplantation in Talar Osteochondral LesionsRecruitingNCT02005861Phase 3
2Platelet Function in Minimal Extracorporeal Circulation in CABGCompletedNCT01935245
3Thrombocytopathy in Gaucher Disease PatientsRecruitingNCT01344096
4The Genetics and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell, and Blood Clotting Disorders.RecruitingNCT00230165
5Cohort Study Comparing Short Daily Hemodialysis (HD) With Conventional HDActive, not recruitingNCT00182156
6Comparison of the Effects of Gelatine Versus Balanced Crystalloid Solution for Volume TherapyNot yet recruitingNCT02461329

Search NIH Clinical Center for Qualitative Platelet Defect

Genetic Tests for Qualitative Platelet Defect

About this section

Anatomical Context for Qualitative Platelet Defect

About this section

MalaCards organs/tissues related to Qualitative Platelet Defect:

33
Bone, Cortex, Bone marrow, Brain, Prefrontal cortex

Animal Models for Qualitative Platelet Defect or affiliated genes

About this section

MGI Mouse Phenotypes related to Qualitative Platelet Defect:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.8F2, F3, GP1BA, ITGA2B, SELP, VWF
2MP:00053977.7F2, F3, GP1BA, ITGA2B, SELP, VWF

Publications for Qualitative Platelet Defect

About this section

Articles related to Qualitative Platelet Defect:

idTitleAuthorsYear
1
Holoprosencephaly and Klinefelter Syndrome. (25535547)
2014
2
Dopamine D1 receptors regulate protein synthesis-dependent long-term recognition memory via extracellular signal-regulated kinase 1/2 in the prefrontal cortex. (17337702)
2007
3
Bipolar spectrum and drug addiction. (17027087)
2007
4
Smad4 overexpression in hepatocellular carcinoma is strongly associated with transforming growth factor beta II receptor immunolabeling. (12378510)
2002
5
Neuronal cell lines expressing PC5, but not PC1 or PC2, process Pro-CCK into glycine-extended CCK 12 and 22. (11457520)
2001
6
Selective activation of effector pathways by brain-specific G protein beta5. (8969224)
1996

Variations for Qualitative Platelet Defect

About this section

Expression for genes affiliated with Qualitative Platelet Defect

About this section
Search GEO for disease gene expression data for Qualitative Platelet Defect.

Pathways for genes affiliated with Qualitative Platelet Defect

About this section

Pathways related to Qualitative Platelet Defect according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
19.8GP1BA, VWF
29.8GP1BA, VWF
39.7ITGA2B, VWF
4
Show member pathways
9.4F2, F3, VWF
5
Show member pathways
9.3GP1BA, ITGA2B, VWF
69.3GP1BA, ITGA2B, VWF
79.3F2, ITGA2B, VWF
89.0HLA-A, HLA-B
9
Show member pathways
9.0F2, F3, GP1BA, VWF
10
Show member pathways
8.9F2, GP1BA, ITGA2B, VWF
118.5HLA-A, HLA-B, SELP
12
Show member pathways
8.0F2, F3, GP1BA, ITGA2B, SELP, VWF

GO Terms for genes affiliated with Qualitative Platelet Defect

About this section

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1regulation of blood coagulationGO:003019310.2F2, GP1BA
2positive regulation of leukocyte migrationGO:00026879.8ITGA2B, SELP
3response to woundingGO:00096119.7F2, F3, VWF
4protection from natural killer cell mediated cytotoxicityGO:00422709.6HLA-A, HLA-B
5positive regulation of T cell mediated cytotoxicityGO:00019169.6HLA-A, HLA-B
6antigen processing and presentationGO:00198829.4HLA-A, HLA-B
7interferon-gamma-mediated signaling pathwayGO:00603339.3HLA-A, HLA-B
8cell adhesionGO:00071559.1GP1BA, ITGA2B, SELP

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

idNameGO IDScoreTop Affiliating Genes
1peptide antigen bindingGO:00426059.0HLA-A, HLA-B

Sources for Qualitative Platelet Defect

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet