WordNet

United States botanist who specialized in North American flora and who was an early supporter of Darwins theories of evolution (1810-1888) (同)Asa Gray
English radiobiologist in whose honor the gray (the SI unit of energy for the absorbed dose of radiation) was named (1905-1965) (同)Louis Harold Gray
American navigator who twice circumnavigated the globe and who discovered the Columbia River (1755-1806) (同)Robert Gray
English poet best known for his elegy written in a country churchyard (1716-1771) (同)Thomas Gray
the SI unit of energy absorbed from ionizing radiation; equal to the absorption of one joule of radiation energy by one kilogram of matter; one gray equals 100 rad (同)Gy
a neutral achromatic color midway between white and black (同)grayness, grey, greyness
a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
tiny bits of protoplasm found in vertebrate blood; essential for blood clotting (同)blood_platelet, thrombocyte

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(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/01/18 01:15:40」(JST)

wiki en

Gray platelet syndrome (GPS), or platelet alpha-granule deficiency,^[1] is a rare congenital autosomal recessive bleeding disorder caused by a reduction or absence of alpha-granules in blood platelets, and the release of proteins normally contained in these granules into the marrow, causing myelofibrosis.^[2]

GPS is primarily inherited in an autosomal recessive manner, and the gene that is mutated in GPS has recently been mapped to chromosome 3p^[3] and identified as NBEAL2.^[4] NBEAL2 encodes a protein containing a BEACH domain that is predicted to be involved in vesicular trafficking. It is expressed in platelets and megakaryocytes and is required for the development of platelet alpha-granules.^[5] NBEAL2 expression is also required for the development of thrombocytes in zebrafish.^[6]

GPS is characterized by "thrombocytopenia, and abnormally large agranular platelets in peripheral blood smears."^[7] The defect in GPS is the failure of megakaryocytes to package secretory proteins into alpha-granules. Patients with the GPS are affected by mild to moderate bleeding tendencies.

References

^ Online 'Mendelian Inheritance in Man' (OMIM) 139090
^ Nurden AT, Nurden P (2007). "The gray platelet syndrome: clinical spectrum of the disease". Blood Rev. 21 (1): 21–36. doi:10.1016/j.blre.2005.12.003. PMID 16442192.
^ Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, et al. (December 2010). "Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p". Blood 116 (23): 4990–5001. doi:10.1182/blood-2010-05-286534. PMC 3012593. PMID 20709904.
^ Kahr WH, Hinckley J, Li L, et al. (August 2011). "Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome". Nat. Genet. 43 (8): 738–40. doi:10.1038/ng.884. PMID 21765413.
^ Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, et al. (August 2011). "NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules". Nat. Genet. 43 (8): 732–4. doi:10.1038/ng.883. PMC 3154019. PMID 21765412.
^ Albers CA, Cvejic A, Favier R, et al. (August 2011). "Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome". Nat. Genet. 43 (8): 735–7. doi:10.1038/ng.885. PMC 3428934. PMID 21765411.
^ Jantunen E, Hänninen A, Naukkarinen A, Vornanen M, Lahtinen R (July 1994). "Gray platelet syndrome with splenomegaly and signs of extramedullary hematopoiesis: a case report with review of the literature". Am. J. Hematol. 46 (3): 218–24. doi:10.1002/ajh.2830460311. PMID 8192152.

External links

Gray platelet syndrome at NIH's Office of Rare Diseases

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1. 先天性および後天性血小板機能障害 congenital and acquired disorders of platelet function
2. 小児における血小板減少症の原因 causes of thrombocytopenia in children
3. 原因不明の血小板減少症を有する成人に対するアプローチ approach to the adult with unexplained thrombocytopenia
4. 成人における免疫性血小板減少症（ITP）：臨床症状および診断 immune thrombocytopenia itp in adults clinical manifestations and diagnosis
5. ビタミンB12および葉酸欠乏症の生理学 physiology of vitamin b12 and folate deficiency

English Journal

Gray platelet syndrome.

Bain BJ, Bhavnani M.SourceDepartment of Haematology, St Mary's Hospital, Praed Street, London, United Kingdom. b.bain@ic.ac.uk.
American journal of hematology.Am J Hematol.2011 Dec;86(12):1027. doi: 10.1002/ajh.22055. Epub 2011 Jul 28.
PMID 21800352

Pleiotropic platelet defects in mice with disrupted FOG1-NuRD interaction.

Wang Y, Meng R, Hayes V, Fuentes R, Yu X, Abrams CS, Heijnen HF, Blobel GA, Marks MS, Poncz M.SourceDivision of Hematology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Blood.Blood.2011 Dec 1;118(23):6183-91. Epub 2011 Oct 11.
Understanding platelet biology has been aided by studies of mice with mutations in key megakaryocytic transcription factors. We have shown that point mutations in the GATA1 cofactor FOG1 that disrupt binding to the nucleosome remodeling and deacetylase (NuRD) complex have erythroid and megakaryocyte
PMID 21989988

Japanese Journal

血小板の微細構造 (特集血小板--核のない"細胞")

鈴木英紀
細胞 43(2), 51-55, 2011-02
NAID 40018744095

Gray Platelet Syndrome Presenting As Menorrhagia

TYAGI Seema,SAXENA Renu
International journal of hematology 77(2), 201-202, 2003-02-01
NAID 50000755658

Pseudo Gray Platelet Syndrome in a Patient with Acute Myocardial Infarction

TOYOTA Shigeo,NAKAMURA Norihiko,DAN Kazuo
International journal of hematology 76(4), 376-378, 2002-11-01
NAID 50000686882

「骨髄線維症」

Gray platelet syndrome
Classification and external resources
Specialty	hematology
ICD-10	D69.1
OMIM	139090
DiseasesDB	29160
MedlinePlus	000582

　　[★]

英: myelofibrosis
同: 骨髄硬化症 myelosclerosis
関: 慢性特発性骨髄線維症 chronic idiopathic myelofibrosis CIMF

概念

骨髄線維症は骨髄に広範なびまん性線維化をきたす疾患の総称である。(参考1)
難病に指定されている。

分類

病因による分類

特発性

慢性特発性骨髄線維症 CIMF ←　骨髄増殖性疾患(MPD)の下位概念

二次性

慢性骨髄性白血病や本態性血小板血症の合併症
腫瘍の骨転移(乳癌、前立腺癌、甲状腺癌、腎癌、胃癌など)

病因

悪性

非悪性

HIV感染症
副甲状腺亢進症
腎骨異栄養症
全身性エリテマトーデス
結核
ビタミンD不足
thorium dioxide expose
gray platelet syndrome

参考

1. 骨髄線維症 - 難病情報センター

http://www.nanbyou.or.jp/entry/262

「灰色血小板症候群」

　　[★]

英: gray platelet syndrome, GPS
同: 血小板α顆粒欠損症 α-storage pool disease、gray platelet症候群
関: 血小板、α顆粒

[show details]

α顆粒欠損症 : 6 件
血小板α顆粒欠損症 : nothing
灰色血小板症候群 : 31 件

遺伝性血小板機能異常症
血小板の顆粒のうち、α顆粒のみの欠失

α顆粒とは　→　血小板#組織学

「GPS」

　　[★] 灰色血小板症候群 gray platelet syndrome

「gray」

　　[★]

n.

グレー、灰色、灰白、(放射線の吸収線量単位)グレイ

関: grey、griseus、Gy

「syndrome」

　　[★]

n.

症候群

[omim-1] Online 'Mendelian Inheritance in Man' (OMIM) 139090

[2] Nurden AT, Nurden P (2007). "The gray platelet syndrome: clinical spectrum of the disease". Blood Rev. 21 (1): 21–36. doi:10.1016/j.blre.2005.12.003. PMID 16442192.

[3] Gunay-Aygun M, Zivony-Elboum Y, Gumruk F, et al. (December 2010). "Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p". Blood 116 (23): 4990–5001. doi:10.1182/blood-2010-05-286534. PMC 3012593. PMID 20709904.

[4] Kahr WH, Hinckley J, Li L, et al. (August 2011). "Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome". Nat. Genet. 43 (8): 738–40. doi:10.1038/ng.884. PMID 21765413.

[5] Gunay-Aygun M, Falik-Zaccai TC, Vilboux T, et al. (August 2011). "NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules". Nat. Genet. 43 (8): 732–4. doi:10.1038/ng.883. PMC 3154019. PMID 21765412.

[6] Albers CA, Cvejic A, Favier R, et al. (August 2011). "Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome". Nat. Genet. 43 (8): 735–7. doi:10.1038/ng.885. PMC 3428934. PMID 21765411.

[pmid8192152-7] Jantunen E, Hänninen A, Naukkarinen A, Vornanen M, Lahtinen R (July 1994). "Gray platelet syndrome with splenomegaly and signs of extramedullary hematopoiesis: a case report with review of the literature". Am. J. Hematol. 46 (3): 218–24. doi:10.1002/ajh.2830460311. PMID 8192152.

リンク元	「骨髄線維症」「灰色血小板症候群」「GPS」
関連記事	「gray」「syndrome」

匿名

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案内

案内

gray platelet syndrome