MCID: PLT002
MIFTS: 41

Platelet Storage Pool Deficiency malady

Blood diseases category

Summaries for Platelet Storage Pool Deficiency

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42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 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 vary from person to person. platelet storage pool deficiencies can also be part of other inherited conditions including hermansky-pudlak syndrome, chediak-higashi syndrome  which are autosomal recessive conditions, wiskott-aldrich syndrome, an x-linked recessive condition, and thrombocytopenia-absent radius (tar) syndrome. the inheritance pattern of tar syndrome is unclear. last updated: 10/15/2013

MalaCards: Platelet Storage Pool Deficiency, also known as platelet dense granule deficiency, is related to hermansky-pudlak 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 are Membrane Trafficking and Clathrin derived vesicle budding. Affiliated tissues include testes, bone and lung, and related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.

Wikipedia:63 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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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 34MeSH
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Classifications:

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


Aliases & Descriptions:

platelet storage pool deficiency 8 42 10 44 60
platelet dense granule deficiency 8
platelet storage pool diseases 42
storage pool platelet disease 42
platelet storage pool defect 8
dense body defect 8


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Disease Ontology8 DOID:2223
MeSH34 D010981

Related Diseases for Platelet Storage Pool Deficiency

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Platelet Storage Pool Deficiency:



Diseases related to platelet storage pool deficiency

Clinical Features for Platelet Storage Pool Deficiency

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Drugs & Therapeutics for Platelet Storage Pool Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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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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32MalaCards
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MalaCards organs/tissues related to Platelet Storage Pool Deficiency:

32
Testes, Bone, Lung, Bone marrow, Myeloid

Animal Models for Platelet Storage Pool Deficiency or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Platelet Storage Pool Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.4BLOC1S3, BLOC1S6, HPS6, HPS1, HPS4, HPS5
2MP:00053679.1BLOC1S6, CD63, HPS6, HPS1, HPS4, HPS5
3MP:00053859.0BLOC1S6, HPS6, HPS1, HPS4, HPS5, P2RX1
4MP:00053918.7BLOC1S3, BLOC1S6, HPS6, HPS1, HPS4, HPS5
5MP:00053878.5BLOC1S3, BLOC1S6, EPB42, HPS6, HPS1, HPS5
6MP:00011868.3RAB27B, BLOC1S3, BLOC1S6, HPS6, HPS1, HPS4
7MP:00107718.3BLOC1S3, BLOC1S6, HPS6, HPS1, HPS4, HPS5
8MP:00053977.9BLOC1S6, EPB42, HPS6, HPS1, HPS4, HPS5
9MP:00053767.6BLOC1S1, BLOC1S6, CD63, EPB42, HPS6, HPS1

Publications for Platelet Storage Pool Deficiency

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50PubMed
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Articles related to Platelet Storage Pool Deficiency:

(show all 45)
idTitleAuthorsYear
1
Absence of mutation in the RAB27B gene in patients with platelet delta-storage pool deficiency. (21198862)
2011
2
Role of MRP4 (ABCC4) in platelet adenine nucleotide-storage: evidence from patients with delta-storage pool deficiencies. (20133816)
2010
3
Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency. (19006216)
2008
4
Alpha-delta platelet storage pool deficiency in three generations. (17365847)
2007
5
Platelet storage pool deficiency in Jacobsen syndrome. (17957568)
2007
6
Management of platelet storage pool deficiency during pregnancy. (14712979)
2003
7
Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non- Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. (11590544)
2001
8
The storage defects in grey platelet syndrome and alphadelta-storage pool deficiency affect alpha-granule factor V and multimerin storage without altering their proteolytic processing. (11442477)
2001
9
Platelet storage pool deficiency of alpha and delta granules. (11473478)
2001
10
The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency. (10610180)
1999
11
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
12
Platelet prothrombinase activity and intracellular calcium responses in patients with storage pool deficiency, glycoprotein IIb-IIIa deficiency, or impaired platelet coagulant activity--a comparison with Scott syndrome. (9057642)
1997
13
Platelet alpha granule deficiency associated with decreased P-selectin and selective impairment of thrombin-induced activation in a new patient with gray platelet syndrome (alpha-storage pool deficiency). (9042822)
1997
14
The gene encoding protein 4.2 is distinct from the mouse platelet storage pool deficiency mutation pallid. (9205130)
1997
15
TM rats: a model for platelet storage pool deficiency. (9250486)
1997
16
Enhanced increases in cytosolic Ca2+ in ADP-stimulated platelets from patients with delta-storage pool deficiency--a possible indicator of interactions between granule-bound ADP and the membrane ADP receptor. (9157599)
1997
17
Inherited prolonged bleeding time and platelet storage pool deficiency in the subtle gray (sut) mouse. (8699821)
1996
18
Platelet storage pool deficiency in pregnancy. (7547169)
1995
19
Rapid detection of hereditary and acquired platelet storage pool deficiency by flow cytometry. (7833250)
1995
20
Molecular markers near two mouse chromosome 13 genes, muted and pearl, which cause platelet storage pool deficiency (SPD). (7719021)
1995
21
The empty sack syndrome: a platelet storage pool deficiency associated with empty dense granules. (8043439)
1994
22
Acquired platelet storage pool deficiency due to severe valvular disease corrected by prosthetic valve replacement. (8296805)
1994
23
Synergistic effect of storage pool deficient platelets and low plasma von Willebrand factor on the severity of the hemorrhagic diathesis in Hermansky-Pudlak syndrome. (8237996)
1993
24
Quantification of a novel dense granule protein (granulophysin) in platelets of patients with dense granule storage pool deficiency. (1515640)
1992
25
Platelet storage pool deficiency, leukemia, and myelodysplastic syndromes. (1290957)
1992
26
Inherited platelet-storage pool deficiency associated with a high incidence of acute myeloid leukaemia. (1958483)
1991
27
Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha. (1912584)
1991
28
Decreased content and surface expression of alpha-granule membrane protein GMP-140 in one of two types of platelet alpha delta storage pool deficiency. (1705568)
1991
29
Sandy: a new mouse model for platelet storage pool deficiency. (1936982)
1991
30
Platelet storage pool deficiency: diagnosis in patients with prolonged bleeding times and normal platelet aggregation. (2375909)
1990
31
Cocoa: a new mouse model for platelet storage pool deficiency. (3408670)
1988
32
Platelet storage pool deficiency in pigs. (3082387)
1986
33
Progenitor cell defect correctable by bone marrow transplantation in five independent mouse models of platelet storage pool deficiency. (3516713)
1986
34
The storage pool deficiency in platelets from humans with the ChAcdiak-Higashi syndrome: study of six patients. (2982391)
1985
35
Correction of symptoms of platelet storage pool deficiency in animal models for Chediak-Higashi syndrome and Hermansky-Pudlak syndrome. (3902123)
1985
36
Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. (6696991)
1984
37
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
38
Monocrotaline pyrrole-induced pulmonary hypertension in fawn-hooded rats with platelet storage pool deficiency: 5-hydroxytryptamine uptake by isolated, perfused lungs. (6665765)
1983
39
Production of experimental arteriosclerosis in fawn-hooded rats with platelet storage pool deficiency. (7181676)
1982
40
Ultrastructure of resting and activated storage pool deficient platelets from animals with the ChAcdiak-Higashi syndrome. (7199822)
1982
41
The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiency. (7448413)
1981
42
Evaluation of the platelet storage pool deficiency in the feline counterpart of the Chediak-Higashi syndrome. (7315839)
1981
43
Platelet storage pool deficiency and prostaglandin synthesis in chronic granulocytic leukaemia. (281970)
1978
44
Proceedings: Differences in platelet storage pool deficiency (SPD) of Hermansky Pudlak syndrome (HPS) and non-albinos (NA). (1188821)
1975
45
Effects of normal and aspirin platelets on defective secondary aggregation in the Hermansky-Pudlak syndrome. A test for storage pool deficient platelets. (5080698)
1972

Genetic Variations for Platelet Storage Pool Deficiency

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Expression for genes affiliated with Platelet Storage Pool Deficiency

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1BioGPS, 15Gene 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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53Reactome
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Pathways related to Platelet Storage Pool Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5BLOC1S6, BLOC1S3, BLOC1S1, SNAPIN
2
Hide members
9.5BLOC1S6, BLOC1S3, BLOC1S1, SNAPIN

Compounds for genes affiliated with Platelet Storage Pool Deficiency

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GO Terms for genes affiliated with Platelet Storage Pool Deficiency

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16Gene Ontology
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Cellular components related to Platelet Storage Pool Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1SNARE complexGO:03120110.0BLOC1S6, STX12
2phagocytic vesicleGO:0453359.4RAB38, STX12
3BLOC-1 complexGO:0310839.2BLOC1S6, BLOC1S3, BLOC1S1, SNAPIN, STX12

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1endosome to melanosome transportGO:03564610.3BLOC1S3, BLOC1S6
2secretion of lysosomal enzymesGO:03329910.2HPS1, BLOC1S6, BLOC1S3
3platelet dense granule organizationGO:06015510.2BLOC1S3, BLOC1S1
4positive regulation of natural killer cell activationGO:03281610.2BLOC1S3, BLOC1S6, HPS1
5melanosome transportGO:03240210.2BLOC1S6, BLOC1S3
6organelle organizationGO:00699610.2HPS3, HPS5, HPS6
7pigmentationGO:04347310.1HPS3, HPS5, BLOC1S3
8post-Golgi vesicle-mediated transportGO:00689210.1BLOC1S6, BLOC1S3, BLOC1S1
9melanocyte differentiationGO:03031810.0BLOC1S6, HPS6, HPS1, HPS4
10synaptic vesicle exocytosisGO:0160799.9SNAPIN, STX12
11anterograde synaptic vesicle transportGO:0484909.9BLOC1S6, BLOC1S3, BLOC1S1, SNAPIN
12melanosome organizationGO:0324389.9SNAPIN, BLOC1S1, BLOC1S3, BLOC1S6
13anterograde axon cargo transportGO:0080899.9SNAPIN, BLOC1S1, BLOC1S3, BLOC1S6
14neuron projection developmentGO:0311759.8SNAPIN, BLOC1S1, BLOC1S3, BLOC1S6
15lysosome organizationGO:0070409.8HPS4, HPS1
16intracellular protein transportGO:0068869.5SNAPIN, STX12, SAR1A
17GTP catabolic processGO:0061849.3RAB38, ARF3, SAR1A
18blood coagulationGO:0075969.3BLOC1S6, CD63, HPS6, HPS1, HPS4, HPS5
19small GTPase mediated signal transductionGO:0072648.9ARF3, RAB1B, RAB38, RAB27B
20protein transportGO:0150318.7ARF3, RAB1B, RAB38, RAB27B

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

idNameGO IDScoreTop Affiliating Genes
1SNARE bindingGO:0001499.9SNAPIN, STX12
2GTPase activityGO:0039248.1SAR1A, ARF3, RAP2B, RAB38, RAB27B
3GTP bindingGO:0055258.0RAB27B, RAB38, RAP2B, RAB1B, ARF3, SAR1A

Products for genes affiliated with Platelet Storage Pool Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Platelet Storage Pool Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet