MCID: PLT002
MIFTS: 41

Platelet Storage Pool Deficiency malady

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Platelet Storage Pool Deficiency

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Aliases & Descriptions for Platelet Storage Pool Deficiency:

Name: Platelet Storage Pool Deficiency 11 47 49 38 13 67
Platelet Dense Granule Deficiency 11
Platelet Storage Pool Diseases 47
 
Storage Pool Platelet Disease 47
Platelet Storage Pool Defect 11
Dense Body Defect 11

Characteristics:


Classifications:



External Ids:

Disease Ontology11 DOID:2223
MeSH38 D010981

Summaries for Platelet Storage Pool Deficiency

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Wikipedia:70 Platelet storage pool deficiency is a type of coagulopathy characterized by defects in the granules in... more...

MalaCards based summary: Platelet Storage Pool Deficiency, also known as platelet dense granule deficiency, is related to hermansky-pudlak syndrome 3 and hermansky-pudlak syndrome 2, and has symptoms including abnormal bleeding, acute leukemia and myelodysplasia. An important gene associated with Platelet Storage Pool Deficiency is AP3B1 (Adaptor Related Protein Complex 3 Beta 1 Subunit), and among its related pathways is Clathrin derived vesicle budding. Affiliated tissues include myeloid, lung and bone, and related mouse phenotypes are limbs/digits/tail and cardiovascular system.

Related Diseases for Platelet Storage Pool Deficiency

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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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Human phenotypes related to Platelet Storage Pool Deficiency:

 63
id Description HPO Frequency HPO Source Accession
1 abnormal bleeding63 HP:0001892
2 acute leukemia63 HP:0002488
3 myelodysplasia63 HP:0002863
4 prolonged bleeding time63 HP:0003010
5 decreased mean platelet volume63 HP:0005537

Drugs & Therapeutics for Platelet Storage Pool Deficiency

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Drugs for Platelet Storage Pool Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AcetylcysteineapprovedPhase 1, Phase 2316616-91-112035
Synonyms:
(2R)-2-acetylamino-3-Sulfanylpropanoic acid
(R)-2-acetylamino-3-Mercaptopropanoic acid
(R)-Mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
 
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
2
PravastatinapprovedPhase 1, Phase 214981093-37-054687
Synonyms:
(+)-(3R,5R)-3,5-Dihydroxy-7-[(1S,2S,6S,8S,8ar)-6-hydroxy-2-methyl-8-{[(S)-2-methylbutyryl]oxy}-1,2,6,7,8,8a-hexahydro-1-naphthyl]heptanoic acid
(3R,5R)-3,5-dihydroxy-7-[(1S,2S,6S,8S,8aR)-6-hydroxy-2-methyl-8-{[(2S)-2-methylbutanoyl]oxy}-1,2,6,7,8,8a-hexahydronaphthalen-1-yl]heptanoic acid
(3R,5R)-7-[(1S,2S,6S,8S,8aR)-6-hydroxy-2-methyl-8-[(2S)-2-methylbutanoyl]oxy-1,2,6,7,8,8a-hexahydronaphthalen-1-yl]-3,5-dihydroxyheptanoic acid
1,2,6,7,8,8a-hexahydro-beta,delta,6-trihydroxy-2-methyl-8-(2-methyl-1-oxobutoxy)-, (1S-(1alpha(betaS*,deltaS*),2alpha,6alpha,8beta(R*),8aalpha))-1-Naphthaleneheptanoic acid
3beta-Hydroxycompactin
81093-37-0
81131-70-6 (hydrochloride salt)
AC1L1HJL
AC1Q5T3M
BIDD:GT0773
BRD-K60511616-236-01-4
C01844
C23H36O7
CCRIS 7557
CHEMBL1144
CID54687
Compactin
D08410
DB00175
Elisor
Eptastatin
FT-0082682
KS-5015
LS-94713
Lipostat
Mevalothin
Mevalotin
Mevastatin
Mevinolin
 
Oliprevin
Pravachol
Pravaselect
Pravastatin (INN)
Pravastatin Sodium
Pravastatin Sodium Salt
Pravastatin [INN:BAN]
Pravastatin acid
Pravastatin sodium
Pravastatin tert-Octylamine Salt
Pravastatina
Pravastatina [Spanish]
Pravastatine
Pravastatine [French]
Pravastatinum
Pravastatinum [Latin]
Pravator
Pravator (TN)
RMS-431
SQ-31,000
Selectin
Selektine
Selipran
UNII-KXO2KT9N0G
Vasten
nchembio.301-comp7
nchembio790-comp15
pravastatin
pravastatina
pravastatine
pravastatinum
3
Erythromycinapproved, vet_approvedPhase 1, Phase 295114-07-812560
Synonyms:
(3R,4S,5S,6R,7R,9R,11R,12R,13S,14R)-6-{[(2S,3R,4S,6R)-4-(dimethylamino)-3-hydroxy-6-methyltetrahydro-2H-pyran-2-yl]oxy}-14-ethyl-7,12,13-trihydroxy-4-{[(2R,4R,5S,6S)-5-hydroxy-4-methoxy-4,6-dimethyltetrahydro-2H-pyran-2-yl]oxy}-3,5,7,9,11,13-hexamethyloxacyclotetradecane-2,10-dione
,10-dione
114-07-8
3''-O-demethylerythromycin
374700-25-1
45673_FLUKA
45674_FLUKA
79235-06-6
82343-12-2
A/T/S
AC-12744
AC1L1FIQ
AC1L1QK7
AC1L1ZUR
AC1O8PVA
AC1Q2UA1
AC1Q6O1S
AI3-50138
AR-1A4414
AR-1H0723
Abboticin
Abomacetin
Acneryne
Acnesol
Ak-Mycin
Ak-mycin
Akne Cordes Losung
Akne-Mycin
Akne-mycin (TN)
Aknederm Ery Gel
Aknemycin
Aknin
AustriaS
BB_NC-1332
BIDD:GT0017
BPBio1_000312
BSPBio_000282
BSPBio_002480
Benzamycin
Benzamycin Pak
Bristamycin
C-Solve-2
C01912
C37H67NO13
CCRIS 9078
CHEBI:42355
CHEMBL532
CID12560
CID3255
CID6713919
CID8233
D00140
DB00199
Del-Mycin
Derimer
Deripil
DivK1c_000294
DivK1c_000397
DivK1c_000702
Dotycin
Dumotrycin
E- mycin, Erycin, Robimysin
E-Base
E-Base (base)
E-Glades
E-Mycin
E-Mycin (base)
E-Solve 2
E0751
E0774_SIAL
E5389_SIGMA
E6376_SIAL
E7904_SIGMA
EINECS 204-040-1
EM
EMU
ERY
ERYC
ERYC (base)
ERYTHROMYCIN STEARATE
ETS
Emgel
Emu-V
Emu-Ve
Emuvin
Emycin
Endoeritrin
Erecin
Erimycin-T
Erisone
Eritomicina
Eritrocina
Eritromicina
Eritromicina [INN-Spanish]
Ermycin
Eros
Ery-B
Ery-Diolan
Ery-Sol
Ery-Tab
Ery-Tab (base)
Ery-maxin
Eryacne
Eryacnen
Eryc
Eryc (TN)
Eryc 125
Eryc Sprinkles
Eryc-125
Eryc-250
Erycen
Erycette
Erycin
Erycinum
Eryderm
Erydermer
Erygel
Erygel (TN)
Eryhexal
Erymax
Erymed
Erypar
Erysafe
Erytab
Erythra-Derm
Erythro
Erythro-Statin
Erythro-Teva
Erythrocin
Erythrocin Stearate
Erythroderm
Erythrogran
Erythroguent
Erythromast 36
Erythromid
Erythromycin
Erythromycin & VRC3375
Erythromycin (JP15/USP/INN)
 
Erythromycin A
Erythromycin A, T-Stat, Pantomicina, HSDB 3074, Erytab, DRG-0279
Erythromycin B
Erythromycin C
Erythromycin Lactate
Erythromycin Ointment
Erythromycin Stearate
Erythromycin [INN:BAN:JAN]
Erythromycin base
Erythromycin estolate
Erythromycin ethylsuccinate
Erythromycin glucoheptonate
Erythromycin intravenous
Erythromycin lactobionate
Erythromycin oxime
Erythromycin sodium lauryl sulfate
Erythromycin, compd. with monododecyl sulfate, sodium salt
Erythromycine
Erythromycine [INN-French]
Erythromycinum
Erythromycinum [INN-Latin]
Erytop
Erytrociclin
Ethril 250
HMS1568O04
HMS1920M04
HMS2091D05
HMS500O16
HSDB 3074
I06-0245
IDI1_000294
IDI1_000397
IDI1_000702
Ilocaps
Ilosone
Ilosone (estolate)
Iloticina
Ilotycin
Ilotycin Gluceptate
Ilotycin T.S
Ilotycin T.S.
Inderm
Inderm Gel
IndermRetcin
KBio1_000294
KBio1_000397
KBio1_000702
KBio2_000555
KBio2_001139
KBio2_003123
KBio2_003707
KBio2_005691
KBio2_006275
KBioGR_001175
KBioSS_000555
KBioSS_001139
KST-1A8261
Kesso-Mycin
LMPK04000006
LS-187077
LS-64648
Latotryd
Lederpax
MLS001066618
Mephamycin
Mercina
MolPort-000-772-161
MolPort-002-507-378
MolPort-003-933-429
N-Methylerythromycin A
NCGC00179619-01
NCI-C55674
NINDS_000294
NINDS_000397
NINDS_000702
NSC 55929
NSC55929
Oftalmolosa Cusi Eritromicina
Oftamolets
PCE Dispertab (base)
Paediathrocin
Pantoderm
Pantodrin
Pantomicina
Pce
Pce (TN)
Pfizer-e
Pharyngocin
Prestwick0_000151
Prestwick1_000151
Prestwick2_000151
Prestwick3_000151
Prestwick_205
Primacine
Propiocine
Proterytrin
R-P Mycin
Retcin
Robimycin
Romycin
SBB057401
SMP1_000119
SMR000544946
SPBio_000778
SPBio_001226
SPBio_002221
SPECTRUM1500280
STK249736
Sans-acne
Sansac
Serp-AFD
Skid Gel E
Spectrum2_000759
Spectrum2_001263
Spectrum4_000538
Spectrum5_001596
Spectrum_000115
Spectrum_000659
Staticin
Staticin (TN)
Stiemicyn
Stiemycin
Sulfuric acid, monododecyl ester, sodium salt, compd. with erythromycin
T-Stat
T-stat (TN)
Taimoxin-F
Theramycin Z
Tiloryth
Tiprocin
Torlamicina
UNII-63937KV33D
Udima Ery Gel
Wemid
Wyamycin S
adecane-2,10-dione (non-preferred name)
bmse000664
erythro
erythromycin
nchembio.285-comp13
érythromycine
4
LosartanapprovedPhase 1, Phase 2282114798-26-43961
Synonyms:
(2-Butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
114798-26-4
124750-99-8 (mono-potassium salt)
1H-Imidazole-5-methanol, 2-butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl]- (9CI)
2-Butyl-4-chloro-1-((2'-(1H-etrazol-5-yl) (1,1'-biphenyl)-4-yl)methyl)-1H-imidazole-5-methanol
2-Butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl-1H-imidazole-5-methanol
2-N-Butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-butyl-4-chloro-1-[p-(o-1H-tetrazol-5ylphenyl)benzyl]imidazole-5-methanol
2-n-butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-n-butyl-4-chloro-5-hydroxymethyl-1-[[2'-(1H-tetrazol-5-yl)-biphenyl-4-yl]methyl]imidazole
AC1L1H3Q
BIDD:GT0286
BRD-K76205745-001-02-5
BSPBio_002695
C07072
C22H23ClN6O
CHEBI:6541
CHEMBL191
CID3961
CL23623
Cozaar
D08146
DB00678
DUP 89
DuP 89
DuP-753
HMS1922J13
HMS2093E22
Hyzaar
I14-9710
Jsp001094
KBio2_002193
 
KBio2_004761
KBio2_007329
KBio3_001915
KBioGR_001611
KBioSS_002193
L000351
LOSARTAN POTASSIUM
LS-78746
Lacidipine
Lortaan
Losartan
Losartan (INN)
Losartan Potassium
Losartan [INN:BAN]
Losartan monopotassium salt
Losartic
Losartic (TN)
MK-954
MK954
MolPort-003-666-553
NCGC00095125-01
NCGC00095125-02
NCGC00095125-03
Oprea1_644635
SPBio_001893
SPECTRUM1504268
Spectrum2_001677
Spectrum3_000998
Spectrum4_001126
Spectrum5_001466
Spectrum_001713
UNII-JMS50MPO89
[2-butyl-5-chloro-3-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]imidazol-4-yl]methanol
losartan
losartan potassium
5
PirfenidoneinvestigationalPhase 24953179-13-840632
Synonyms:
5-21-07-00197 (Beilstein Handbook Reference)
5-Methyl-1-phenyl-1H-pyridin-2-one
5-Methyl-1-phenyl-2(1H)-pyridone
5-Methyl-1-phenyl-2-(1H)-pyridone
5-methyl-1-phenylpyridin-2(1H)-one
5-methyl-1-phenylpyridin-2-one
53179-13-8
AC-6797
AC1L2454
AMR 69
AMR-69
BRD-K96862998-001-03-1
BRN 1526549
Bio1_000397
Bio1_000886
Bio1_001375
C093844
C12H11NO
CID40632
D01583
Deskar
EN000704
EU-0100907
Esbriet
F-647
FT-0082541
 
I01-1466
KS-5041
LS-133834
Lopac-P-2116
Lopac0_000907
MLS000860042
NCGC00015806-01
NCGC00015806-03
NCGC00015806-05
NCGC00024992-01
NCGC00024992-02
NCGC00024992-03
P 2116
P2116_SIGMA
PIRFENIDONE
Pirespa
Pirfenidona
Pirfenidona [INN-Spanish]
Pirfenidone (Deskar)
Pirfenidone (JAN/USAN/INN)
Pirfenidone [USAN:INN]
Pirfenidonum
Pirfenidonum [INN-Latin]
S-7701
SMR000326900
Tocris-1093
ZINC00001958
6Analgesics, Non-NarcoticPhase 2, Phase 16260
7Anti-Inflammatory AgentsPhase 2, Phase 110355
8Peripheral Nervous System AgentsPhase 2, Phase 122776
9Anti-Inflammatory Agents, Non-SteroidalPhase 2, Phase 14295
10Antirheumatic AgentsPhase 2, Phase 110627
11AnalgesicsPhase 2, Phase 111287
12Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 1, Phase 21956
13Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 1, Phase 212767
14Gastrointestinal AgentsPhase 1, Phase 28109
15Hypolipidemic AgentsPhase 1, Phase 22721
16Hormone AntagonistsPhase 1, Phase 212778
17HormonesPhase 1, Phase 213979
18N-monoacetylcystinePhase 1, Phase 2316
19Protective AgentsPhase 1, Phase 27190
20Respiratory System AgentsPhase 1, Phase 24818
21Pharmaceutical SolutionsPhase 1, Phase 27793
22ExpectorantsPhase 1, Phase 2388
23Lipid Regulating AgentsPhase 1, Phase 22702
24Lipoxygenase InhibitorsPhase 1, Phase 277
25Leukotriene AntagonistsPhase 1, Phase 2291
26Antiviral AgentsPhase 1, Phase 29732
27Anti-Arrhythmia AgentsPhase 1, Phase 22969
28Anti-Bacterial AgentsPhase 1, Phase 210884
29AngiotensinogenPhase 1, Phase 21161
30Angiotensin Receptor AntagonistsPhase 1, Phase 21173
31
Angiotensin IIPhase 1, Phase 2116268521-88-0, 11128-99-7172198, 65143
Synonyms:
1-8-Angiotensin I
1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide
Ang II
Angiotensin 2
Angiotensin II (human)
 
Angiotensin II (mouse)
Angiotonin
Asp-arg-val-TYR-ile-his-pro-phe
Human angiotensin II
Hypertensin
Ile(5)-angiotensin II
32Angiotensin II Type 1 Receptor BlockersPhase 1, Phase 21078
33Anticholesteremic AgentsPhase 1, Phase 21983
34AntidotesPhase 1, Phase 21038
35Erythromycin EstolatePhase 1, Phase 295
36Erythromycin EthylsuccinatePhase 1, Phase 295
37AntioxidantsPhase 1, Phase 22928
38AntimetabolitesPhase 1, Phase 211774
39Antihypertensive AgentsPhase 1, Phase 24095
40Anti-Infective AgentsPhase 1, Phase 221402
41Erythromycin stearatePhase 1, Phase 295

Interventional clinical trials:

idNameStatusNCT IDPhase
1Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak SyndromeActive, not recruitingNCT00001596Phase 2
2Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak SyndromeTerminatedNCT00467831Phase 1, Phase 2
3Medical Treatment of Colitis in Patients With Hermansky-Pudlak SyndromeWithdrawnNCT00514982Phase 2
4Study of Megakaryocytes From Patients With Abnormal Platelet VesiclesCompletedNCT00086476
5Clinical and Basic Investigations Into Hermansky-Pudlak SyndromeRecruitingNCT00001456
6Study of Chediak-Higashi SyndromeRecruitingNCT00005917
7Clinical and Basic Investigations Into Erdheim Chester DiseaseRecruitingNCT01417520
8A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary FibrosisRecruitingNCT02368340

Search NIH Clinical Center for Platelet Storage Pool Deficiency


Cochrane evidence based reviews: platelet storage pool deficiency

Genetic Tests for Platelet Storage Pool Deficiency

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Anatomical Context for Platelet Storage Pool Deficiency

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MalaCards organs/tissues related to Platelet Storage Pool Deficiency:

35
Myeloid, Lung, Bone, Bone marrow

Animal Models for Platelet Storage Pool Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Platelet Storage Pool Deficiency:

40 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.3AP3B1, BLOC1S3, BLOC1S6, HPS1
2MP:00053858.5AP3B1, BLOC1S6, HPS1, HPS4, HPS6
3MP:00053828.5AP3B1, BLOC1S3, HPS1, HPS4, HPS6
4MP:00053678.4AP3B1, BLOC1S6, HPS1, HPS4, HPS6
5MP:00053878.4AP3B1, BLOC1S3, BLOC1S6, HPS1, HPS3, HPS6
6MP:00053768.1AP3B1, BLOC1S6, HPS1, HPS3, HPS4, HPS6
7MP:00053788.0AP3B1, BLOC1S3, BLOC1S6, HPS1, HPS4, HPS6
8MP:00053778.0AP3B1, BLOC1S3, BLOC1S6, HPS1, HPS4, HPS6
9MP:00053977.6AP3B1, BLOC1S3, BLOC1S6, HPS1, HPS3, HPS4
10MP:00107717.5AP3B1, BLOC1S3, BLOC1S6, HPS1, HPS3, HPS4
11MP:00011867.5AP3B1, BLOC1S3, BLOC1S6, HPS1, HPS3, HPS4
12MP:00053916.7AP3B1, BLOC1S3, BLOC1S6, HPS1, HPS3, HPS4

Publications for Platelet Storage Pool Deficiency

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Articles related to Platelet Storage Pool Deficiency:

(show all 36)
idTitleAuthorsYear
1
Postural orthostatic tachycardia syndrome is associated with platelet storage pool deficiency. (27631244)
2016
2
Light Transmission Aggregometry Does Not Correlate With the Severity of I'-Granule Platelet Storage Pool Deficiency. (27403770)
2016
3
Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B. (28041820)
2016
4
Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency. (19006216)
2008
5
Alpha-delta platelet storage pool deficiency in three generations. (17365847)
2007
6
Platelet storage pool deficiency in Jacobsen syndrome. (17957568)
2007
7
Management of platelet storage pool deficiency during pregnancy. (14712979)
2003
8
Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non- Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. (11590544)
2001
9
Platelet storage pool deficiency of alpha and delta granules. (11473478)
2001
10
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
11
The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency. (10610180)
1999
12
TM rats: a model for platelet storage pool deficiency. (9250486)
1997
13
The gene encoding protein 4.2 is distinct from the mouse platelet storage pool deficiency mutation pallid. (9205130)
1997
14
Inherited prolonged bleeding time and platelet storage pool deficiency in the subtle gray (sut) mouse. (8699821)
1996
15
Rapid detection of hereditary and acquired platelet storage pool deficiency by flow cytometry. (7833250)
1995
16
Molecular markers near two mouse chromosome 13 genes, muted and pearl, which cause platelet storage pool deficiency (SPD). (7719021)
1995
17
Platelet storage pool deficiency in pregnancy. (7547169)
1995
18
The empty sack syndrome: a platelet storage pool deficiency associated with empty dense granules. (8043439)
1994
19
Acquired platelet storage pool deficiency due to severe valvular disease corrected by prosthetic valve replacement. (8296805)
1994
20
Platelet storage pool deficiency, leukemia, and myelodysplastic syndromes. (1290957)
1992
21
Inherited platelet-storage pool deficiency associated with a high incidence of acute myeloid leukaemia. (1958483)
1991
22
Sandy: a new mouse model for platelet storage pool deficiency. (1936982)
1991
23
Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha. (1912584)
1991
24
Platelet storage pool deficiency: diagnosis in patients with prolonged bleeding times and normal platelet aggregation. (2375909)
1990
25
Cocoa: a new mouse model for platelet storage pool deficiency. (3408670)
1988
26
Platelet storage pool deficiency in pigs. (3082387)
1986
27
Progenitor cell defect correctable by bone marrow transplantation in five independent mouse models of platelet storage pool deficiency. (3516713)
1986
28
Correction of symptoms of platelet storage pool deficiency in animal models for Chediak-Higashi syndrome and Hermansky-Pudlak syndrome. (3902123)
1985
29
Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. (6696991)
1984
30
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
31
Monocrotaline pyrrole-induced pulmonary hypertension in fawn-hooded rats with platelet storage pool deficiency: 5-hydroxytryptamine uptake by isolated, perfused lungs. (6665765)
1983
32
Production of experimental arteriosclerosis in fawn-hooded rats with platelet storage pool deficiency. (7181676)
1982
33
The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiency. (7448413)
1981
34
Evaluation of the platelet storage pool deficiency in the feline counterpart of the Chediak-Higashi syndrome. (7315839)
1981
35
Platelet storage pool deficiency and prostaglandin synthesis in chronic granulocytic leukaemia. (281970)
1978
36
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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Search GEO for disease gene expression data for Platelet Storage Pool Deficiency.

Pathways for genes affiliated with Platelet Storage Pool Deficiency

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Pathways related to Platelet Storage Pool Deficiency according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1AP3B1, BLOC1S3, BLOC1S6

GO Terms for genes affiliated with Platelet Storage Pool Deficiency

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Cellular components related to Platelet Storage Pool Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1BLOC-2 complexGO:003108410.1HPS3, HPS6
2BLOC-1 complexGO:00310839.8BLOC1S3, BLOC1S6
3BLOC-3 complexGO:00310859.6HPS1, HPS4
4transport vesicleGO:00301339.5BLOC1S3, BLOC1S6
5axon cytoplasmGO:19041159.5AP3B1, BLOC1S3, BLOC1S6

Biological processes related to Platelet Storage Pool Deficiency according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of natural killer cell activationGO:003281610.0BLOC1S3, BLOC1S6
2secretion of lysosomal enzymesGO:003329910.0BLOC1S3, BLOC1S6
3endosome to melanosome transportGO:00356469.9BLOC1S3, BLOC1S6
4melanosome transportGO:00324029.7BLOC1S3, BLOC1S6
5anterograde axonal transportGO:00080899.6AP3B1, BLOC1S3, BLOC1S6
6melanosome organizationGO:00324389.6AP3B1, BLOC1S3, BLOC1S6
7anterograde synaptic vesicle transportGO:00484909.6AP3B1, BLOC1S3, BLOC1S6
8lysosome organizationGO:00070409.4HPS1, HPS4
9neuron projection developmentGO:00311759.2BLOC1S3, BLOC1S6
10organelle organizationGO:00069969.1HPS3, HPS4, HPS6
11melanocyte differentiationGO:00303189.1BLOC1S6, HPS4, HPS6
12pigmentationGO:00434738.6BLOC1S3, BLOC1S6, HPS3, HPS6
13blood coagulationGO:00075968.2AP3B1, BLOC1S6, HPS4, HPS6

Molecular functions related to Platelet Storage Pool Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1GTP-dependent protein bindingGO:00307429.6AP3B1, HPS6

Sources for Platelet Storage Pool Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet