BERNARD-SOULIER SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: BERNARD-SOULIER SYNDROME, TYPE B, INCLUDED
VON WILLEBRAND FACTOR RECEPTOR DEFICIENCY BERNARD-SOULIER SYNDROME, TYPE A1, INCLUDED
BDPLT1
BLEEDING DISORDER, PLATELET-TYPE, 1
BERNARD-SOULIER SYNDROME, TYPE C, INCLUDED
BSS
GLYCOPROTEIN Ib, PLATELET, DEFICIENCY OF
PLATELET GLYCOPROTEIN Ib DEFICIENCY
Number of Symptoms 14
OrphanetNr:
OMIM Id: 231200
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000132) Menorrhagia 40 / 7739
2
(HPO:0000421) Epistaxis 85 / 7739
3
(HPO:0001438) Abnormality of the abdomen 28 / 7739
4
(HPO:0000979) Purpura 27 / 7739
5
(HPO:0001873) Thrombocytopenia 224 / 7739
6
(HPO:0011877) Increased mean platelet volume 9 / 7739
7
(HPO:0003010) Prolonged bleeding time 88 / 7739
8
(HPO:0001892) Abnormal bleeding 85 / 7739
9
(OMIM) Congenital bleeding diathesis 1 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
(OMIM) Normal platelet aggregation with ADP, collagen, epinephrine 1 / 7739
12
(OMIM) Absent platelet agglutination in presence of ristocetin 1 / 7739
13
(OMIM) Reduced platelet glycoprotein Ib complex 1 / 7739
14
(OMIM) Mild thrombocytopenia 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Bernard-Soulier syndrome is an autosomal recessive bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor (VWF; 613160) receptor complex, glycoprotein Ib (GP Ib). GP Ib is composed of 4 subunits encoded ...
Clinical Description OMIM Bernard-Soulier syndrome and other platelet disorders have some similar clinical features, including mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia. In BSS, bleeding time is prolonged (in some cases longer than 20 minutes), platelets are large, and there ...
Molecular genetics OMIM In a patient with autosomal recessive Bernard-Soulier syndrome, Ware et al. (1990) identified a homozygous nonsense mutation in the GP1BA gene (606672.0001), which encodes the alpha chain of the GP Ib receptor.

By RFLP analysis, Finch ...