MCID: STR089
MIFTS: 37

Storage Pool Platelet Disease malady

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Storage Pool Platelet Disease

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Aliases & Descriptions for Storage Pool Platelet Disease:

Name: Storage Pool Platelet Disease 52 48
Platelet Storage Pool Deficiency 11 48 50 39 13 68
Platelet Dense Granule Deficiency 11
Platelet Storage Pool Diseases 48
 
Alpha Delta Granule Deficiency 54
Alpha Dense Granule Deficiency 54
Platelet Storage Pool Defect 11
Dense Body Defect 11

Characteristics:

HPO:

64
storage pool platelet disease:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 185050
Disease Ontology11 DOID:2223
MeSH39 D010981
Orphanet54 ORPHA734
ICD10 via Orphanet31 D69.1

Summaries for Storage Pool Platelet Disease

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NIH Rare Diseases:48 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: Storage Pool Platelet Disease, also known as platelet storage pool deficiency, is related to hermansky-pudlak syndrome 3 and hermansky-pudlak syndrome 2, and has symptoms including acute leukemia, myelodysplasia and prolonged bleeding time. An important gene associated with Storage Pool Platelet Disease is AP3B1 (Adaptor Related Protein Complex 3 Beta 1 Subunit), and among its related pathways are Clathrin derived vesicle budding and Vesicle-mediated transport. Related mouse phenotypes are craniofacial and renal/urinary system.

Wikipedia:71 Platelet storage pool deficiency is a type of coagulopathy characterized by defects in the granules in... more...

Description from OMIM:52 185050

Related Diseases for Storage Pool Platelet Disease

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Graphical network of the top 20 diseases related to Storage Pool Platelet Disease:



Diseases related to storage pool platelet disease

Symptoms & Phenotypes for Storage Pool Platelet Disease

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Symptoms by clinical synopsis from OMIM:

185050

Clinical features from OMIM:

185050

Human phenotypes related to Storage Pool Platelet Disease:

 64
id Description HPO Frequency HPO Source Accession
1 acute leukemia64 HP:0002488
2 myelodysplasia64 HP:0002863
3 prolonged bleeding time64 HP:0003010
4 decreased mean platelet volume64 HP:0005537

MGI Mouse Phenotypes related to Storage Pool Platelet Disease according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.4AP3B1, BLOC1S3, HPS4, HPS6
2MP:00053679.3AP3B1, BLOC1S6, HPS4, HPS6
3MP:00053778.9AP3B1, BLOC1S3, BLOC1S6, HPS4, HPS6
4MP:00107718.3AP3B1, BLOC1S3, BLOC1S6, HPS3, HPS4, HPS6
5MP:00011868.3AP3B1, BLOC1S3, BLOC1S6, HPS3, HPS4, HPS6
6MP:00053768.1AP3B1, BLOC1S6, HPS3, HPS4, HPS6, NBEAL2
7MP:00053877.9AP3B1, BLOC1S3, BLOC1S6, HPS3, HPS6, NBEAL2
8MP:00053977.6AP3B1, BLOC1S3, BLOC1S6, HPS3, HPS4, HPS6
9MP:00053917.6AP3B1, BLOC1S3, BLOC1S6, HPS3, HPS4, HPS6

Drugs & Therapeutics for Storage Pool Platelet Disease

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

(show all 42)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Acetylcysteineapproved, investigationalPhase 1, Phase 2330616-91-112035
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-acetylcysteine
L-α-acetamido-β-mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetyl-L-(+)-cysteine
N-acetyl-L-cysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
2
PravastatinapprovedPhase 1, Phase 215081093-37-054687
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 299114-07-812560
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 2286114798-26-43961
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 25553179-13-840632
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 16501
7Anti-Inflammatory AgentsPhase 2, Phase 110729
8Peripheral Nervous System AgentsPhase 2, Phase 123689
9Anti-Inflammatory Agents, Non-SteroidalPhase 2, Phase 14443
10Antirheumatic AgentsPhase 2, Phase 110956
11AnalgesicsPhase 2, Phase 111733
12Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 1, Phase 21998
13Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 1, Phase 213168
14Gastrointestinal AgentsPhase 1, Phase 28402
15Hypolipidemic AgentsPhase 1, Phase 22785
16Hormone AntagonistsPhase 1, Phase 213180
17HormonesPhase 1, Phase 214415
18N-monoacetylcystinePhase 1, Phase 2330
19Protective AgentsPhase 1, Phase 27443
20Respiratory System AgentsPhase 1, Phase 24997
21Pharmaceutical SolutionsPhase 1, Phase 28192
22ExpectorantsPhase 1, Phase 2404
23Lipid Regulating AgentsPhase 1, Phase 22766
24Lipoxygenase InhibitorsPhase 1, Phase 277
25Leukotriene AntagonistsPhase 1, Phase 2293
26Antiviral AgentsPhase 1, Phase 29967
27Anti-Arrhythmia AgentsPhase 1, Phase 23093
28Anti-Bacterial AgentsPhase 1, Phase 211226
29AngiotensinogenPhase 1, Phase 21177
30Angiotensin Receptor AntagonistsPhase 1, Phase 21191
31
Angiotensin IIPhase 1, Phase 2117868521-88-0, 11128-99-765143, 172198
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 21091
33Anticholesteremic AgentsPhase 1, Phase 22025
34AntidotesPhase 1, Phase 21071
35Erythromycin EstolatePhase 1, Phase 299
36Erythromycin EthylsuccinatePhase 1, Phase 299
37AntioxidantsPhase 1, Phase 23050
38AntimetabolitesPhase 1, Phase 212054
39Antihypertensive AgentsPhase 1, Phase 24207
40Anti-Infective AgentsPhase 1, Phase 222062
41Erythromycin stearatePhase 1, Phase 299
42SunflowerNutraceutical112

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
5Pathogen Reduction Evaluation & Predictive Analytical Rating ScoreCompletedNCT02783313
6Clinical and Basic Investigations Into Hermansky-Pudlak SyndromeRecruitingNCT00001456
7Study of Chediak-Higashi SyndromeRecruitingNCT00005917
8Clinical and Basic Investigations Into Erdheim Chester DiseaseRecruitingNCT01417520
9A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary FibrosisRecruitingNCT02368340

Search NIH Clinical Center for Storage Pool Platelet Disease


Cochrane evidence based reviews: platelet storage pool deficiency

Genetic Tests for Storage Pool Platelet Disease

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Anatomical Context for Storage Pool Platelet Disease

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Publications for Storage Pool Platelet Disease

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Variations for Storage Pool Platelet Disease

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Expression for genes affiliated with Storage Pool Platelet Disease

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Search GEO for disease gene expression data for Storage Pool Platelet Disease.

Pathways for genes affiliated with Storage Pool Platelet Disease

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1AP3B1, BLOC1S3, BLOC1S6
2
Show member pathways
8.6AP3B1, BLOC1S3, BLOC1S6, HPS4

GO Terms for genes affiliated with Storage Pool Platelet Disease

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

idNameGO IDScoreTop Affiliating Genes
1BLOC-1 complexGO:003108310.0BLOC1S3, BLOC1S6
2BLOC-2 complexGO:00310849.9HPS3, HPS6
3axon cytoplasmGO:19041159.6AP3B1, BLOC1S3, BLOC1S6
4transport vesicleGO:00301339.4BLOC1S3, BLOC1S6

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1endosome to melanosome transportGO:003564610.0BLOC1S3, BLOC1S6
2melanosome transportGO:003240210.0BLOC1S3, BLOC1S6
3neuron projection developmentGO:00311759.9BLOC1S3, BLOC1S6
4anterograde axonal transportGO:00080899.7AP3B1, BLOC1S3, BLOC1S6
5anterograde synaptic vesicle transportGO:00484909.7AP3B1, BLOC1S3, BLOC1S6
6melanosome organizationGO:00324389.6AP3B1, BLOC1S3, BLOC1S6
7melanocyte differentiationGO:00303189.5BLOC1S6, HPS4, HPS6
8organelle organizationGO:00069969.4HPS3, HPS4, HPS6
9blood coagulationGO:00075969.2AP3B1, BLOC1S6, HPS4, HPS6
10pigmentationGO:00434738.4BLOC1S3, BLOC1S6, HPS3, HPS6

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

idNameGO IDScoreTop Affiliating Genes
1GTP-dependent protein bindingGO:003074210.0AP3B1, HPS6
2Rab GTPase bindingGO:00171379.4HPS4, HPS6

Sources for Storage Pool Platelet Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet