Bernard-Soulier syndrome

Bernard-Soulier syndrome

Infobox_Disease
Name = Bernard-Soulier syndrome


Caption =
DiseasesDB = 1356
ICD10 = ICD10|D|69|1|d|65
ICD9 = ICD9|287.1
ICDO =
OMIM = 231200
MedlinePlus =
eMedicineSubj = ped
eMedicineTopic = 230
MeshID = D001606

Bernard-Soulier syndrome (BSS), also called hemorrhagiparous thrombocytic dystrophy,cite journal |author=Lanza F |title=Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy) |journal=Orphanet J Rare Dis. |volume=16 |issue=1 |pages=46 |year=2006 |pmid=17109744 ] is an autosomal recessive bleeding disorder that causes a deficiency of "glycoprotein Ib" (GpIb), the receptor for von Willebrand factor which is important in clot formation.

Presentation

It presents as a bleeding disorder due to the inability of platelets to bind and aggregate at sites of vascular endothelial injury. cite journal |author=Pham A, Wang J |title=Bernard-Soulier syndrome: an inherited platelet disorder |journal=Arch. Pathol. Lab. Med. |volume=131 |issue=12 |pages=1834–6 |year=2007 |pmid=18081445 |doi= |url=http://journals.allenpress.com/jrnlserv/?request=get-abstract&issn=0003-9985&volume=131&page=1834 |format=subscription required]

Eponym

The syndrome is named after Dr. Jean Bernard and Jean Pierre Soulier. [WhoNamedIt|synd|2075] [cite journal |author=Bernard J, Soulier JP |title= [Sur une nouvelle variété de dystrophie thrombocytaire hémorragipare congénitale] |language=French |journal=Semaine des hôpitaux de Paris |volume=24 |issue= |pages=3217–23 |year=1948 |month=Dec |pmid=18116504 |doi= |url=]

Genetics

There are three forms: [OMIM|231200|GIANT PLATELET SYNDROME]

* Type A - GP1BA
* Type B - GP1BB
* Type C - GP9

References

External links

* http://www.bernardsoulier.org/
* http://www.B-SS.org
*cite journal |author=De Marco L, Mazzucato M, Fabris F, "et al" |title=Variant Bernard-Soulier syndrome type bolzano. A congenital bleeding disorder due to a structural and functional abnormality of the platelet glycoprotein Ib-IX complex |journal=J. Clin. Invest. |volume=86 |issue=1 |pages=25–31 |year=1990 |month=Jul |pmid=1694864 |pmc=296685 |doi=10.1172/JCI114692 |url=
*RareDiseases|2470|Giant platelet syndrome; Bernard-Soulier syndrome; Deficiency of Platelet glycoprotein 1b

ee also

* Gray platelet syndrome
* Glanzmann's thrombasthenia
* von Willebrand disease
* May-Hegglin anomaly


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Look at other dictionaries:

  • Bernard-Soulier syndrome — Bernard Soulier syndrome. См. синдром гигантских тромбоцитов. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Bernard-Soulier syndrome (giant platelet syndrome) — The Bernard Soulier syndrome is a primary problem of platelets in which the platelets lack the ability to stick adequately to injured blood vessel walls. This is a crucial aspect of the process of forming a blood clot, and as a result of this… …   Medical dictionary

  • Syndrome, giant platelet (Bernard-Soulier syndrome) — This condition is a primary problem of platelets in which the platelets lack the ability to stick adequately to injured blood vessel walls and as a result of this problem there is abnormal bleeding. The giant platelet syndrome usually presents in …   Medical dictionary

  • Bernard-Soulier syndrome — Ber·nard Sou·lier syndrome (bār nahrґ s l yaґ) [Jean Alfred Bernard, French hematologist, 1907–2006; Jean Pierre Soulier, French hematologist, 1915–2003] see under syndrome …   Medical dictionary

  • Giant platelet syndrome (Bernard-Soulier syndrome) — This condition is a primary problem of platelets in which the platelets lack the ability to stick adequately to injured blood vessel walls and as a result of this problem there is abnormal bleeding. The giant platelet syndrome usually presents in …   Medical dictionary

  • Bernard-Soulier syndrome — Genetic deficiency in platelet membrane glycoprotein Ib (CD42) ; platelets aggregate normally (cf Glanzmann s thrombasthenia) but do not stick to collagen of sub endothelial basement membrane …   Dictionary of molecular biology

  • Bernard-Soulier syndrome — (BSS) an autosomal recessive disorder characterized by giant platelets with membranes lacking glycoprotein Ib, the probable receptor for plasma von Willebrand factor; this keeps the platelets from binding the factor, which is necessary for their… …   Medical dictionary

  • Bernard-Soulier-Syndrom — Klassifikation nach ICD 10 D69.1 Thrombozytopathie …   Deutsch Wikipedia

  • Syndrome, Bernard-Soulier (giant platelet syndrome) — This is a primary problem of platelets in which the platelets lack the ability to stick adequately to injured blood vessel walls. As a result of this problem there is abnormal bleeding. Bernard Soulier syndrome usually presents in the newborn… …   Medical dictionary

  • Síndrome de Bernard-Soulier — Clasificación y recursos externos CIE 10 D69.1 CIE 9 287.1 …   Wikipedia Español

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