MCID: STR089
MIFTS: 46

Storage Pool Platelet Disease

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Storage Pool Platelet Disease

MalaCards integrated aliases for Storage Pool Platelet Disease:

Name: Storage Pool Platelet Disease 57 53
Platelet Storage Pool Deficiency 12 53 55 44 15 73
Combined Alpha-Delta Platelet Storage Pool Deficiency 59
Platelet Dense Granule Deficiency 12
Platelet Storage Pool Diseases 53
Alpha Delta Granule Deficiency 59
Alpha Dense Granule Deficiency 59
Platelet Storage Pool Defect 12
Dense Body Defect 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
syndromic forms of dense granule only platelet storage pool deficiencies (delta-spd) include hermansky-pudlak syndrome and chediak-hygashi syndrome
aquired delta-spd seen in myeloproliferative disorders, myelodysplasia, and acute leukemia


HPO:

32
storage pool platelet disease:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 185050
Disease Ontology 12 DOID:2223
MeSH 44 D010981
Orphanet 59 ORPHA734
ICD10 via Orphanet 34 D69.1
MedGen 42 C0032197
UMLS 73 C0032197

Summaries for Storage Pool Platelet Disease

NIH Rare Diseases : 53 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.

MalaCards based summary : Storage Pool Platelet Disease, also known as platelet storage pool deficiency, is related to hermansky-pudlak syndrome 1 and hermansky-pudlak syndrome 3. An important gene associated with Storage Pool Platelet Disease is GFI1B (Growth Factor Independent 1B Transcriptional Repressor). The drugs Pirfenidone and Losartan have been mentioned in the context of this disorder. Affiliated tissues include lung, bone and bone marrow, and related phenotypes are myelodysplasia and acute leukemia

Wikipedia : 76 Platelet storage pool deficiency is a type of coagulopathy characterized by defects in the granules in... more...

Description from OMIM: 185050

Related Diseases for Storage Pool Platelet Disease

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

Symptoms via clinical synopsis from OMIM:

57
Hematology:
mild-moderate prolonged bleeding time
decreased platelet aggregation
mild-moderate bleeding tendencies
absent platelet dense bodies
small platelets
more
Laboratory Abnormalities:
mild-moderate prolonged bleeding time
decreased platelet aggregation


Clinical features from OMIM:

185050

Human phenotypes related to Storage Pool Platelet Disease:

32
# Description HPO Frequency HPO Source Accession
1 myelodysplasia 32 HP:0002863
2 acute leukemia 32 HP:0002488
3 prolonged bleeding time 32 HP:0003010
4 decreased mean platelet volume 32 HP:0005537

MGI Mouse Phenotypes related to Storage Pool Platelet Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.95 AP3B1 BLOC1S6 GFI1B HPS3 HPS4 HPS6
2 homeostasis/metabolism MP:0005376 9.91 AP3B1 BLOC1S6 GFI1B HPS3 HPS4 HPS6
3 cardiovascular system MP:0005385 9.85 BLOC1S6 GFI1B HPS4 HPS6 AP3B1
4 immune system MP:0005387 9.8 AP3B1 BLOC1S6 GFI1B HPS3 HPS6 NBEAL2
5 hearing/vestibular/ear MP:0005377 9.73 AP3B1 BLOC1S6 HPS4 HPS6
6 integument MP:0010771 9.73 HPS4 HPS6 AP3B1 BLOC1S6 GFI1B HPS3
7 pigmentation MP:0001186 9.55 AP3B1 BLOC1S6 HPS3 HPS4 HPS6
8 renal/urinary system MP:0005367 9.26 AP3B1 BLOC1S6 HPS4 HPS6
9 vision/eye MP:0005391 9.02 AP3B1 BLOC1S6 HPS3 HPS4 HPS6

Drugs & Therapeutics for Storage Pool Platelet Disease

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

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
2
Losartan Approved Phase 1, Phase 2 114798-26-4 3961
3
Erythromycin Approved, Investigational, Vet_approved Phase 1, Phase 2 114-07-8 12560
4
Pravastatin Approved Phase 1, Phase 2 81093-37-0 54687
5
Angiotensin II Approved, Investigational Phase 1, Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
6
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
7 Analgesics Phase 2,Phase 1
8 Analgesics, Non-Narcotic Phase 2,Phase 1
9 Peripheral Nervous System Agents Phase 2,Phase 1
10 Anti-Inflammatory Agents Phase 2,Phase 1
11 Anti-Inflammatory Agents, Non-Steroidal Phase 2,Phase 1
12 Antirheumatic Agents Phase 2,Phase 1
13 Respiratory System Agents Phase 1, Phase 2
14 Gastrointestinal Agents Phase 1, Phase 2,Phase 2
15 N-monoacetylcystine Phase 1, Phase 2
16 Hormone Antagonists Phase 1, Phase 2
17 Hormones Phase 1, Phase 2
18 Angiotensin II Type 1 Receptor Blockers Phase 1, Phase 2
19 Angiotensin Receptor Antagonists Phase 1, Phase 2
20 Angiotensinogen Phase 1, Phase 2
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
22 Anti-Arrhythmia Agents Phase 1, Phase 2
23 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 1, Phase 2
24 Anti-Bacterial Agents Phase 1, Phase 2
25 Erythromycin Estolate Phase 1, Phase 2
26 Erythromycin Ethylsuccinate Phase 1, Phase 2
27 Erythromycin stearate Phase 1, Phase 2
28 Hypolipidemic Agents Phase 1, Phase 2
29 Pharmaceutical Solutions Phase 1, Phase 2
30 Antihypertensive Agents Phase 1, Phase 2
31 Anticholesteremic Agents Phase 1, Phase 2
32 Expectorants Phase 1, Phase 2
33 Antidotes Phase 1, Phase 2
34 Anti-Infective Agents Phase 1, Phase 2
35 Antioxidants Phase 1, Phase 2
36 Protective Agents Phase 1, Phase 2
37 Leukotriene Antagonists Phase 1, Phase 2
38 Lipid Regulating Agents Phase 1, Phase 2
39 Lipoxygenase Inhibitors Phase 1, Phase 2
40 Antimetabolites Phase 1, Phase 2,Phase 2
41 Antiviral Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Completed NCT00001596 Phase 2 Pirfenidone;Placebo
2 Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome Terminated NCT00467831 Phase 1, Phase 2 Losartan;Zileuton;N-Acetylcysteine;Pravastatin;Erythromycin
3 Medical Treatment of Colitis in Patients With Hermansky-Pudlak Syndrome Withdrawn NCT00514982 Phase 2 Mesalamine;Infliximab;Corticosteroids;6-Mercaptopurine;Tacrolimus;Adalimumab
4 Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles Completed NCT00086476
5 Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome Recruiting NCT00001456
6 Study of Chediak-Higashi Syndrome Recruiting NCT00005917
7 A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis Recruiting NCT02368340
8 Clinical and Pathophysiological Investigations Into Erdheim Chester Disease Recruiting NCT01417520

Search NIH Clinical Center for Storage Pool Platelet Disease

Cochrane evidence based reviews: platelet storage pool deficiency

Genetic Tests for Storage Pool Platelet Disease

Anatomical Context for Storage Pool Platelet Disease

MalaCards organs/tissues related to Storage Pool Platelet Disease:

41
Lung, Bone, Bone Marrow, Myeloid

Publications for Storage Pool Platelet Disease

Articles related to Storage Pool Platelet Disease:

(show all 37)
# Title Authors Year
1
Angiomatoid Fibrous Histiocytoma With Paraneoplastic Platelet Storage Pool Deficiency. ( 29472492 )
2018
2
Postural orthostatic tachycardia syndrome is associated with platelet storage pool deficiency. ( 27631244 )
2016
3
Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B. ( 28041820 )
2016
4
Light Transmission Aggregometry Does Not Correlate With the Severity of I'-Granule Platelet Storage Pool Deficiency. ( 27403770 )
2016
5
Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency. ( 19006216 )
2008
6
Alpha-delta platelet storage pool deficiency in three generations. ( 17365847 )
2007
7
Platelet storage pool deficiency in Jacobsen syndrome. ( 17957568 )
2007
8
Management of platelet storage pool deficiency during pregnancy. ( 14712979 )
2003
9
Platelet storage pool deficiency of alpha and delta granules. ( 11473478 )
2001
10
Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non- Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency. ( 11590544 )
2001
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
The pallid gene encodes a novel, syntaxin 13-interacting protein involved in platelet storage pool deficiency. ( 10610180 )
1999
13
The gene encoding protein 4.2 is distinct from the mouse platelet storage pool deficiency mutation pallid. ( 9205130 )
1997
14
TM rats: a model for platelet storage pool deficiency. ( 9250486 )
1997
15
Inherited prolonged bleeding time and platelet storage pool deficiency in the subtle gray (sut) mouse. ( 8699821 )
1996
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
Rapid detection of hereditary and acquired platelet storage pool deficiency by flow cytometry. ( 7833250 )
1995
19
The empty sack syndrome: a platelet storage pool deficiency associated with empty dense granules. ( 8043439 )
1994
20
Acquired platelet storage pool deficiency due to severe valvular disease corrected by prosthetic valve replacement. ( 8296805 )
1994
21
Platelet storage pool deficiency, leukemia, and myelodysplastic syndromes. ( 1290957 )
1992
22
Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha. ( 1912584 )
1991
23
Inherited platelet-storage pool deficiency associated with a high incidence of acute myeloid leukaemia. ( 1958483 )
1991
24
Sandy: a new mouse model for platelet storage pool deficiency. ( 1936982 )
1991
25
Platelet storage pool deficiency: diagnosis in patients with prolonged bleeding times and normal platelet aggregation. ( 2375909 )
1990
26
Cocoa: a new mouse model for platelet storage pool deficiency. ( 3408670 )
1988
27
Progenitor cell defect correctable by bone marrow transplantation in five independent mouse models of platelet storage pool deficiency. ( 3516713 )
1986
28
Platelet storage pool deficiency in pigs. ( 3082387 )
1986
29
Correction of symptoms of platelet storage pool deficiency in animal models for Chediak-Higashi syndrome and Hermansky-Pudlak syndrome. ( 3902123 )
1985
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
Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. ( 6696991 )
1984
32
Monocrotaline pyrrole-induced pulmonary hypertension in fawn-hooded rats with platelet storage pool deficiency: 5-hydroxytryptamine uptake by isolated, perfused lungs. ( 6665765 )
1983
33
Production of experimental arteriosclerosis in fawn-hooded rats with platelet storage pool deficiency. ( 7181676 )
1982
34
The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiency. ( 7448413 )
1981
35
Evaluation of the platelet storage pool deficiency in the feline counterpart of the Chediak-Higashi syndrome. ( 7315839 )
1981
36
Platelet storage pool deficiency and prostaglandin synthesis in chronic granulocytic leukaemia. ( 281970 )
1978
37
Proceedings: Differences in platelet storage pool deficiency (SPD) of Hermansky Pudlak syndrome (HPS) and non-albinos (NA). ( 1188821 )
1975

Variations for Storage Pool Platelet Disease

Expression for Storage Pool Platelet Disease

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

Pathways for Storage Pool Platelet Disease

GO Terms for Storage Pool Platelet Disease

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

# Name GO ID Score Top Affiliating Genes
1 axon cytoplasm GO:1904115 8.96 AP3B1 BLOC1S6
2 BLOC-2 complex GO:0031084 8.62 HPS3 HPS6

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

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.46 AP3B1 BLOC1S6 HPS4 HPS6
2 pigmentation GO:0043473 9.43 BLOC1S6 HPS3 HPS6
3 anterograde axonal transport GO:0008089 9.4 AP3B1 BLOC1S6
4 melanosome organization GO:0032438 9.37 AP3B1 BLOC1S6
5 anterograde synaptic vesicle transport GO:0048490 9.32 AP3B1 BLOC1S6
6 melanocyte differentiation GO:0030318 9.13 BLOC1S6 HPS4 HPS6
7 organelle organization GO:0006996 8.8 HPS3 HPS4 HPS6

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

# Name GO ID Score Top Affiliating Genes
1 Rab GTPase binding GO:0017137 8.96 HPS4 HPS6
2 GTP-dependent protein binding GO:0030742 8.62 AP3B1 HPS6

Sources for Storage Pool Platelet Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....