MCID: PLT002
MIFTS: 45

Platelet Storage Pool Deficiency malady

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Platelet Storage Pool Deficiency

About this section

Aliases & Descriptions for Platelet Storage Pool Deficiency:

Name: Platelet Storage Pool Deficiency 10 45 47 12 36 65
Platelet Dense Granule Deficiency 10
Platelet Storage Pool Diseases 45
 
Storage Pool Platelet Disease 45
Platelet Storage Pool Defect 10
Dense Body Defect 10

Characteristics:



Classifications:



External Ids:

Disease Ontology10 DOID:2223
MeSH36 D010981
UMLS65 C0032197

Summaries for Platelet Storage Pool Deficiency

About this section
NIH Rare Diseases:45 Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. the signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation; easy bruising; recurrent anemia; and abnormal bleeding after surgery, dental work or childbirth. platelet storage pool deficiencies may be genetic or acquired (non-genetic). they can also be part of an inherited genetic syndrome such as hermansky-pudlak syndrome, chediak-higashi syndrome, thrombocytopenia-absent radius (tar) syndrome, and wiskott-aldrich syndrome. treatment is symptomatic. last updated: 4/14/2015

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 decreased mean platelet volume, prolonged bleeding time and myelodysplasia. An important gene associated with Platelet Storage Pool Deficiency is BLOC1S6 (Biogenesis Of Lysosomal Organelles Complex 1 Subunit 6), and among its related pathways is Clathrin derived vesicle budding. Affiliated tissues include endothelial, prostate and liver, and related mouse phenotypes are limbs/digits/tail and renal/urinary system.

Wikipedia:68 Platelet storage pool deficiency is a type of coagulopathy characterized by defects in the granules in... more...

Related Diseases for Platelet Storage Pool Deficiency

About this section

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

About this section

HPO human phenotypes related to Platelet Storage Pool Deficiency:

id Description Frequency HPO Source Accession
1 decreased mean platelet volume HP:0005537
2 prolonged bleeding time HP:0003010
3 myelodysplasia HP:0002863
4 acute leukemia HP:0002488
5 abnormal bleeding HP:0001892

Drugs & Therapeutics for Platelet Storage Pool Deficiency

About this section

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

(show all 39)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LosartanapprovedPhase 1, Phase 2276114798-26-43961
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
2
ErythromycinapprovedPhase 1, Phase 292114-07-812560
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
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
E.e.s
E.e.s.
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
Ery-B
Ery-Diolan
Ery-Sol
Ery-Tab
Ery-Tab (base)
Ery-maxin
Ery-ped
Ery-tab
Eryacne
Eryacnen
Erybid
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
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 Base
Erythromycin Base Base
Erythromycin Base Filmtab
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
3
AcetylcysteineapprovedPhase 1, Phase 2293616-91-112035
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
4
PravastatinapprovedPhase 1, Phase 214481093-37-054687
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
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
5
PirfenidoneinvestigationalPhase 24253179-13-840632
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 15184
7Anti-Inflammatory AgentsPhase 2, Phase 18478
8AnalgesicsPhase 2, Phase 19358
9Anti-Inflammatory Agents, Non-SteroidalPhase 2, Phase 13549
10Contraceptives, OralPhase 23734
11Peripheral Nervous System AgentsPhase 2, Phase 118510
12Antirheumatic AgentsPhase 2, Phase 18496
13Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 1, Phase 29988
14Hormone AntagonistsPhase 1, Phase 210002
15Gastrointestinal AgentsPhase 1, Phase 26401
16Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 1, Phase 21804
17HormonesPhase 1, Phase 211748
18N-monoacetylcystinePhase 1, Phase 2293
19Protective AgentsPhase 1, Phase 25651
20Respiratory System AgentsPhase 1, Phase 23931
21ExpectorantsPhase 1, Phase 2337
22Pharmaceutical SolutionsPhase 1, Phase 27004
23Leukotriene AntagonistsPhase 1, Phase 2270
24Hypolipidemic AgentsPhase 1, Phase 22228
25AntioxidantsPhase 1, Phase 22442
26Anti-Arrhythmia AgentsPhase 1, Phase 22371
27Anti-Bacterial AgentsPhase 1, Phase 29140
28AngiotensinogenPhase 1, Phase 21032
29Angiotensin Receptor AntagonistsPhase 1, Phase 21039
30
Angiotensin IIPhase 1, Phase 2103368521-88-0, 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
31Angiotensin II Type 1 Receptor BlockersPhase 1, Phase 2949
32Anticholesteremic AgentsPhase 1, Phase 21732
33Antihypertensive AgentsPhase 1, Phase 23618
34Erythromycin EstolatePhase 1, Phase 292
35Erythromycin EthylsuccinatePhase 1, Phase 292
36Antiviral AgentsPhase 1, Phase 28071
37AntimetabolitesPhase 1, Phase 29454
38Anti-Infective AgentsPhase 1, Phase 217220
39Erythromycin stearatePhase 1, Phase 292

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

About this section

Anatomical Context for Platelet Storage Pool Deficiency

About this section

MalaCards organs/tissues related to Platelet Storage Pool Deficiency:

33
Endothelial, Prostate, Liver, Breast, Bone, Lung, Myeloid

Animal Models for Platelet Storage Pool Deficiency or affiliated genes

About this section

MGI Mouse Phenotypes related to Platelet Storage Pool Deficiency:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9AP3B1, BLOC1S3, BLOC1S6, HPS1
2MP:00053678.0AP3B1, BLOC1S6, HPS1, HPS4, HPS6
3MP:00053848.0AP3B1, BLOC1S3, BLOC1S6, HPS1, HPS4
4MP:00053827.8AP3B1, BLOC1S3, HPS1, HPS4, HPS6
5MP:00053857.7AP3B1, BLOC1S6, HPS1, HPS4, HPS6
6MP:00053767.5AP3B1, BLOC1S6, HPS1, HPS3, HPS4, HPS6
7MP:00053787.3AP3B1, BLOC1S3, BLOC1S6, HPS1, HPS4, HPS6
8MP:00053877.3AP3B1, BLOC1S3, BLOC1S6, HPS1, HPS3, HPS6
9MP:00011867.1AP3B1, BLOC1S3, BLOC1S6, HPS1, HPS3, HPS4
10MP:00107717.1AP3B1, BLOC1S3, BLOC1S6, HPS1, HPS3, HPS4
11MP:00053777.1AP3B1, BLOC1S3, BLOC1S6, HPS1, HPS4, HPS6
12MP:00053917.1AP3B1, BLOC1S3, BLOC1S6, HPS1, HPS3, HPS4
13MP:00053976.7AP3B1, BLOC1S3, BLOC1S6, HPS1, HPS3, HPS4

Publications for Platelet Storage Pool Deficiency

About this section

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

About this section

Expression for genes affiliated with Platelet Storage Pool Deficiency

About this section
Search GEO for disease gene expression data for Platelet Storage Pool Deficiency.

Pathways for genes affiliated with Platelet Storage Pool Deficiency

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.2AP3B1, BLOC1S3, BLOC1S6

GO Terms for genes affiliated with Platelet Storage Pool Deficiency

About this section

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

idNameGO IDScoreTop Affiliating Genes
1axon cytoplasmGO:19041159.7AP3B1, BLOC1S6

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1endosome to melanosome transportGO:003564610.1BLOC1S3, BLOC1S6
2anterograde axonal transportGO:000808910.1BLOC1S3, BLOC1S6
3melanosome transportGO:003240210.1BLOC1S3, BLOC1S6
4melanosome organizationGO:003243810.0AP3B1, BLOC1S6
5neuron projection developmentGO:00311759.9BLOC1S3, BLOC1S6
6pigmentationGO:00434739.9BLOC1S3, BLOC1S6
7anterograde synaptic vesicle transportGO:00484909.6AP3B1, BLOC1S3, BLOC1S6
8membrane organizationGO:00610249.3BLOC1S3, BLOC1S6
9organelle organizationGO:00069968.7HPS3, HPS4, HPS6

Sources for Platelet Storage Pool Deficiency

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