Description:
GIANT PLATELET SYNDROME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
Black/African American
|
|
Family Member
|
2
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
| |
| Remarks |
Fibro cultures from heterozygous dau are GM10461 & 10462; mild thrombocytopenia, giant platelets, & > 20 min bleeding time; nasal & vaginal spontaneous mucosal bleeding; multiple annual transfusions; lacks glycoprotein Ib on platelet |
| Jamieson GA, Okumura T, Fishback B, Johnson MM, Egan JJ, Weiss HJ, Platelet membrane glycoproteins in thrombasthenia, Bernard-Soulier syndrome, and storage pool disease. J Lab Clin Med93:652-60 1979 |
| PubMed ID: 429863 |
| |
| Kunicki TJ, Johnson MM, Aster RH, Absence of the platelet receptor for drug-dependent antibodies in the Bernard-Soulier syndrome. J Clin Invest62:716-9 1978 |
| PubMed ID: 690191 |
| |
| Walsh PN, Mills DC, Pareti FI, Stewart GJ, Macfarlane DE, Johnson MM, Egan JJ, Hereditary giant platelet syndrome. Absence of collagen-induced coagulant activity and deficiency of factor-XI binding to platelets. Br J Haematol29:639-55 1975 |
| PubMed ID: 1191567 |
| |
| Weiss HJ, Tschopp TB, Baumgartner HR, Sussman II, Johnson MM, Egan JJ, Decreased adhesion of giant (Bernard-Soulier) platelets to subendothelium. Further implications on the role of the von Willebrand factor in hemostasis. Am J Med57:920-5 1974 |
| PubMed ID: 4473891 |
| dbSNP |
dbSNP ID: 11396 |
| NCBI GTR |
231200 BERNARD-SOULIER SYNDROME; BSS |
| OMIM |
231200 BERNARD-SOULIER SYNDROME; BSS |
| Omim Description |
BERNARD-SOULIER SYNDROME, AUTOSOMAL DOMINANT, INCLUDED |
| |
BERNARD-SOULIER SYNDROME, TYPE A, INCLUDED |
| |
BERNARD-SOULIER SYNDROME; BSS |
| |
GIANT PLATELET SYNDROME |
| |
GLYCOCALICIN, INCLUDED |
| |
GP Ib, ALPHA SUBUNIT, INCLUDED |
| |
MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE, INCLUDED |
| |
PLATELET GLYCOPROTEIN Ib, DEFICIENCY OFGLYCOPROTEIN Ib, PLATELET, ALPHA POLYPEPTIDE, INCLUDED; GP1BA, INCLUDED |
| |
PLATELET GLYCOPROTEIN Ib, POLYMORPHISM OF, INCLUDED |
| |
VON WILLEBRAND DISEASE, PLATELET TYPE, INCLUDED |
| |
VON WILLEBRAND FACTOR RECEPTOR, DEFICIENCY OF, INCLUDED |
|
|