Details of Disease

General Information of Disease (ID: DISHODOH)

• Disease Name: Platelet storage pool deficiency
• Synonyms: storage pool platelet disease; alpha delta granule deficiency; platelet storage pool diseases; alpha dense granule deficiency; platelet storage pool defect; dense body defect; combined alpha-delta platelet storage pool deficiency; platelet dense granule deficiency
• Definition: 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.
• Disease Hierarchy:
  DISFXMTP: Syndromic constitutional thrombocytopenia
  DISHODOH: Platelet storage pool deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0008495
  MESH ID: D010981
  UMLS CUI: C0032197
  OMIM ID: 185050
  MedGen ID: 19351
  Orphanet ID: 734
  SNOMED CT ID: 128099001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC7A11	TTBZMIO	Strong	Biomarker	[1]

This Disease Is Related to 15 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HPS4	OTBTW01J	Limited	Biomarker	[2]
GFI1B	OTRDW8YO	Supportive	Autosomal dominant	[3]
AP3B1	OTYTIH5Q	Strong	Genetic Variation	[4]
AP3D1	OTJLI0IM	Strong	Genetic Variation	[5]
BLOC1S5	OTE3LL6Q	Strong	Biomarker	[6]
BLOC1S6	OT96NE03	Strong	Biomarker	[7]
DOCK7	OTINNVQV	Strong	Biomarker	[8]
DTNBP1	OT9UQT2S	Strong	Biomarker	[9]
HOXD13	OTWSC8TF	Strong	Genetic Variation	[10]
HPS1	OTKS5I7T	Strong	Biomarker	[11]
HPS3	OTAKROK7	Strong	Biomarker	[12]
HPS5	OTLO2374	Strong	Biomarker	[13]
LYST	OTIUB1B3	Strong	Biomarker	[14]
RAB27A	OT9SQRWY	Strong	Biomarker	[15]
RAB27B	OTPF9D0K	Strong	Biomarker	[16]

References

• [1] Inherited prolonged bleeding time and platelet storage pool deficiency in the subtle gray (sut) mouse.Lab Anim Sci. 1996 Feb;46(1):56-60.
• [2] Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.Nat Genet. 2002 Mar;30(3):321-4. doi: 10.1038/ng835. Epub 2002 Feb 11.
• [3] Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B. Mol Genet Metab. 2017 Mar;120(3):288-294. doi: 10.1016/j.ymgme.2016.12.006. Epub 2016 Dec 18.
• [4] Novel AP3B1 compound heterozygous mutations in a Japanese patient with Hermansky-Pudlak syndrome type 2.J Dermatol. 2020 Feb;47(2):185-189. doi: 10.1111/1346-8138.15177. Epub 2019 Dec 9.
• [5] Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood. 2016 Feb 25;127(8):997-1006. doi: 10.1182/blood-2015-09-671636. Epub 2016 Jan 7.
• [6] Characterization of melanosomes in murine Hermansky-Pudlak syndrome: mechanisms of hypopigmentation.J Invest Dermatol. 2004 Feb;122(2):452-60. doi: 10.1046/j.0022-202X.2004.22117.x.
• [7] Dysregulation of PLDN (pallidin) is a mechanism for platelet dense granule deficiency in RUNX1 haplodeficiency.J Thromb Haemost. 2017 Apr;15(4):792-801. doi: 10.1111/jth.13619. Epub 2017 Feb 23.
• [8] Misty (m) affects growth traits.Am J Physiol. 1998 Jul;275(1):R29-32. doi: 10.1152/ajpregu.1998.275.1.R29.
• [9] Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.Mol Genet Metab. 2017 Apr;120(4):378-383. doi: 10.1016/j.ymgme.2017.02.007. Epub 2017 Feb 27.
• [10] Alpha-delta platelet storage pool deficiency in three generations.Platelets. 2007 Feb;18(1):1-10. doi: 10.1080/09537100600800172.
• [11] Iris phenotypes and pigment dispersion caused by genes influencing pigmentation.Pigment Cell Melanoma Res. 2008 Oct;21(5):565-78. doi: 10.1111/j.1755-148X.2008.00482.x. Epub 2007 Jun 28.
• [12] Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development.J Invest Dermatol. 2002 Nov;119(5):1156-64. doi: 10.1046/j.1523-1747.2002.19535.x.
• [13] Analysis of atherosclerosis susceptibility in mice with genetic defects in platelet function.Arteriosclerosis. 1990 Jul-Aug;10(4):648-52. doi: 10.1161/01.atv.10.4.648.
• [14] Lyst mutation in mice recapitulates iris defects of human exfoliation syndrome.Invest Ophthalmol Vis Sci. 2009 Mar;50(3):1205-14. doi: 10.1167/iovs.08-2791. Epub 2008 Nov 21.
• [15] Rab27a enables myosin Va-dependent melanosome capture by recruiting the myosin to the organelle.J Cell Sci. 2001 Mar;114(Pt 6):1091-100. doi: 10.1242/jcs.114.6.1091.
• [16] Rab27b regulates number and secretion of platelet dense granules.Proc Natl Acad Sci U S A. 2007 Apr 3;104(14):5872-7. doi: 10.1073/pnas.0609879104. Epub 2007 Mar 23.