MCID: PLT002
MIFTS: 45

Platelet Storage Pool Deficiency malady

Rare diseases, Blood diseases categories

Summaries for Platelet Storage Pool Deficiency

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44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 Platelet storage pool deficiencies are rare platelet abnormalities that cause a mild to moderate bleeding disorder. platelet storage pool deficiencies consist of a number of disorders characterized by a reduction in the number and content of certain types of platelets, called dense granules and alpha granules. the dense granules in platelets serve as a "storage pool" for adenosine triphosphate (atp), adenosine diphosphate (adp), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated.  it is thought that the reduced release of adp may result in the prolonged bleeding times. classically, the clinical features of storage pool disorders include nosebleeds (epistaxis), abnormally heavy or prolonged menstruation (menorrhagia), easy bruising, recurrent anemia, and obstetric or surgical bleeding.  four major types of congenital platelet storage pool disease have been described: dense body deficiency, gray platelet syndrome, factor v quebec, and mixed alpha-granule/dense body deficiency. the inheritance of an isolated platelet storage pool deficiency is thought to be autosomal dominant, but the penetrance of the gene varies from person to person.  platelet storage pool deficiencies can also be part of other inherited conditions including hermansky-pudlak syndrome, chediak-higashi syndrome, and thrombocytopenia-absent radius (tar) syndrome which are autosomal recessive conditions, and wiskott-aldrich syndrome, an x-linked recessive condition. last updated: 7/30/2014

MalaCards: Platelet Storage Pool Deficiency, also known as platelet dense granule deficiency, is related to chediak-higashi syndrome and albinism. An important gene associated with Platelet Storage Pool Deficiency is BLOC1S3 (biogenesis of lysosomal organelles complex-1, subunit 3), and among its related pathways is Clathrin derived vesicle budding. The compound Guanosine triphosphate have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and bone marrow, and related mouse phenotypes are cardiovascular system and limbs/digits/tail.

Wikipedia:66 Platelet storage pool deficiency is a type of coagulopathy characterized by defects in the granules in... more...

Aliases & Classifications for Platelet Storage Pool Deficiency

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9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 36MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Blood diseases


Aliases & Descriptions:

platelet storage pool deficiency 9 44 11 46 63
platelet dense granule deficiency 9
platelet storage pool diseases 44
storage pool platelet disease 44
platelet storage pool defect 9
dense body defect 9


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Disease Ontology9 DOID:2223
MeSH36 D010981

Related Diseases for Platelet Storage Pool Deficiency

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Platelet Storage Pool Deficiency:



Diseases related to platelet storage pool deficiency

Symptoms for Platelet Storage Pool Deficiency

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Drugs & Therapeutics for Platelet Storage Pool Deficiency

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Genetic Tests for Platelet Storage Pool Deficiency

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Anatomical Context for Platelet Storage Pool Deficiency

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34MalaCards
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MalaCards organs/tissues related to Platelet Storage Pool Deficiency:

34
Bone, Lung, Bone marrow, Myeloid

Animal Models for Platelet Storage Pool Deficiency or affiliated genes

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38MGI
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Publications for Platelet Storage Pool Deficiency

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53PubMed
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Articles related to Platelet Storage Pool Deficiency:

(show all 33)
idTitleAuthorsYear
1
Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency. (19006216)
2008
2
Alpha-delta platelet storage pool deficiency in three generations. (17365847)
2007
3
Platelet storage pool deficiency in Jacobsen syndrome. (17957568)
2007
4
Management of platelet storage pool deficiency during pregnancy. (14712979)
2003
5
Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non- Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. (11590544)
2001
6
Platelet storage pool deficiency of alpha and delta granules. (11473478)
2001
7
The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency. (10610180)
1999
8
Abnormal expression and subcellular distribution of subunit proteins of the AP-3 adaptor complex lead to platelet storage pool deficiency in the pearl mouse. (10381507)
1999
9
The gene encoding protein 4.2 is distinct from the mouse platelet storage pool deficiency mutation pallid. (9205130)
1997
10
TM rats: a model for platelet storage pool deficiency. (9250486)
1997
11
Inherited prolonged bleeding time and platelet storage pool deficiency in the subtle gray (sut) mouse. (8699821)
1996
12
Platelet storage pool deficiency in pregnancy. (7547169)
1995
13
Rapid detection of hereditary and acquired platelet storage pool deficiency by flow cytometry. (7833250)
1995
14
Molecular markers near two mouse chromosome 13 genes, muted and pearl, which cause platelet storage pool deficiency (SPD). (7719021)
1995
15
The empty sack syndrome: a platelet storage pool deficiency associated with empty dense granules. (8043439)
1994
16
Acquired platelet storage pool deficiency due to severe valvular disease corrected by prosthetic valve replacement. (8296805)
1994
17
Platelet storage pool deficiency, leukemia, and myelodysplastic syndromes. (1290957)
1992
18
Inherited platelet-storage pool deficiency associated with a high incidence of acute myeloid leukaemia. (1958483)
1991
19
Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha. (1912584)
1991
20
Sandy: a new mouse model for platelet storage pool deficiency. (1936982)
1991
21
Platelet storage pool deficiency: diagnosis in patients with prolonged bleeding times and normal platelet aggregation. (2375909)
1990
22
Cocoa: a new mouse model for platelet storage pool deficiency. (3408670)
1988
23
Platelet storage pool deficiency in pigs. (3082387)
1986
24
Progenitor cell defect correctable by bone marrow transplantation in five independent mouse models of platelet storage pool deficiency. (3516713)
1986
25
Correction of symptoms of platelet storage pool deficiency in animal models for Chediak-Higashi syndrome and Hermansky-Pudlak syndrome. (3902123)
1985
26
Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. (6696991)
1984
27
Genetics of the fawn-hooded rat strain. The coat color dilution and platelet storage pool deficiency are pleiotropic effects of the autosomal recessive red-eyed dilution gene. (6481128)
1984
28
Monocrotaline pyrrole-induced pulmonary hypertension in fawn-hooded rats with platelet storage pool deficiency: 5-hydroxytryptamine uptake by isolated, perfused lungs. (6665765)
1983
29
Production of experimental arteriosclerosis in fawn-hooded rats with platelet storage pool deficiency. (7181676)
1982
30
The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiency. (7448413)
1981
31
Evaluation of the platelet storage pool deficiency in the feline counterpart of the Chediak-Higashi syndrome. (7315839)
1981
32
Platelet storage pool deficiency and prostaglandin synthesis in chronic granulocytic leukaemia. (281970)
1978
33
Proceedings: Differences in platelet storage pool deficiency (SPD) of Hermansky Pudlak syndrome (HPS) and non-albinos (NA). (1188821)
1975

Variations for Platelet Storage Pool Deficiency

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Expression for genes affiliated with Platelet Storage Pool Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Platelet Storage Pool Deficiency

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Pathways for genes affiliated with Platelet Storage Pool Deficiency

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51PathCards, 56Reactome
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Pathways related to Platelet Storage Pool Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0SNAPIN, DTNBP1, AP3B1, BLOC1S6, BLOC1S3

Compounds for genes affiliated with Platelet Storage Pool Deficiency

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25HMDB
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Compounds related to Platelet Storage Pool Deficiency according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Guanosine triphosphate258.1ARF3, RAB1B, RAP2B, SAR1A

GO Terms for genes affiliated with Platelet Storage Pool Deficiency

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17Gene Ontology
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Cellular components related to Platelet Storage Pool Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1BLOC-3 complexGO:03108510.1HPS1, HPS4
2BLOC-2 complexGO:0310849.9HPS5, HPS6, HPS3
3SNARE complexGO:0312019.9STX12, BLOC1S6
4transport vesicleGO:0301339.8BLOC1S3, BLOC1S6
5synaptic vesicle membraneGO:0306729.6DTNBP1, SNAPIN
6endosome membraneGO:0100089.5STX12, DTNBP1, CD63
7BLOC-1 complexGO:0310839.1SNAPIN, STX12, BLOC1S6, BLOC1S3, DTNBP1
8Golgi apparatusGO:0057948.6AP3B1, SAR1A, SNAPIN, RAB1B

Biological processes related to Platelet Storage Pool Deficiency according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1endosome to melanosome transportGO:03564610.1BLOC1S6, BLOC1S3
2organelle organizationGO:00699610.0HPS3, HPS5, HPS6
3platelet dense granule organizationGO:06015510.0BLOC1S3, DTNBP1
4post-Golgi vesicle-mediated transportGO:0068929.9BLOC1S3, BLOC1S6, DTNBP1
5lysosome organizationGO:0070409.8HPS1, HPS4, LYST
6melanocyte differentiationGO:0303189.8HPS6, HPS1, HPS4, BLOC1S6
7secretion of lysosomal enzymesGO:0332999.8BLOC1S3, BLOC1S6, LYST, HPS1
8positive regulation of natural killer cell activationGO:0328169.8HPS1, LYST, BLOC1S6, BLOC1S3
9melanosome transportGO:0324029.8BLOC1S6, BLOC1S3
10membrane organizationGO:0610249.8DTNBP1, BLOC1S6, BLOC1S3
11pigmentationGO:0434739.7BLOC1S3, LYST, HPS3, HPS5
12synaptic vesicle exocytosisGO:0160799.5SNAPIN, STX12
13neuron projection developmentGO:0311759.5SNAPIN, DTNBP1, BLOC1S6, BLOC1S3
14anterograde synaptic vesicle transportGO:0484909.3BLOC1S3, BLOC1S6, AP3B1, DTNBP1, SNAPIN
15anterograde axon cargo transportGO:0080899.3BLOC1S3, BLOC1S6, AP3B1, DTNBP1, SNAPIN
16melanosome organizationGO:0324389.0SNAPIN, LYST, DTNBP1, AP3B1, BLOC1S6, BLOC1S3
17intracellular protein transportGO:0068868.9SNAPIN, STX12, SAR1A, AP3B1
18blood coagulationGO:0075968.3BLOC1S6, AP3B1, DTNBP1, LYST, HPS5, HPS4

Molecular functions related to Platelet Storage Pool Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1GDP bindingGO:0190039.5RAB27B, RAP2B
2SNARE bindingGO:0001499.3SNAPIN, STX12
3GTP bindingGO:0055257.6RAB27B, SAR1A, RAB1B, ARF3, RAP2B
4protein bindingGO:0055156.9BLOC1S3, BLOC1S6, DTNBP1, LYST, STX12, HPS4

Products for genes affiliated with Platelet Storage Pool Deficiency

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Sources for Platelet Storage Pool Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
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60SNOMED-CT via Orphanet
63UMLS
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