BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: BSSA2
Number of Symptoms 15
OrphanetNr:
OMIM Id: 153670
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000225) Gingival bleeding 28 / 7739
2
(HPO:0000421) Epistaxis 85 / 7739
3
(HPO:0000967) Petechiae 26 / 7739
4
(HPO:0000978) Bruising susceptibility 123 / 7739
5
(HPO:0004446) Stomatocytosis 11 / 7739
6
(HPO:0001878) Hemolytic anemia 83 / 7739
7
(HPO:0006298) Prolonged bleeding after dental extraction 3 / 7739
8
(HPO:0011877) Increased mean platelet volume 9 / 7739
9
(OMIM) Mild splenomegaly 6 / 7739
10
(OMIM) Mean platelet volume (MPV) 12.6fL 1 / 7739
11
(OMIM) Absent neutrophil inclusions 1 / 7739
12
(OMIM) Prolonged menstrual periods 1 / 7739
13
(OMIM) Asymptomatic bleeding tendencies (petechiae, epistaxis, mucosal bleeding) 1 / 7739
14
(OMIM) Normal platelet aggregation studies with ADP, collagen, and ristocetin 1 / 7739
15
(OMIM) Low-normal platelet count (89-290 x 10(9)/L) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Miller et al. (1992) reported a 2-generation family in which 5 individuals had a moderate bleeding tendency, thrombocytopenia, and an increased mean platelet volume. The pedigree pattern was consistent with autosomal dominant inheritance.

Savoia et al. ...

Molecular genetics OMIM In a Caucasian family in which 5 members over 2 generations were affected with a mild form of Bernard-Soulier syndrome in an unusual autosomal dominant pattern of inheritance, Miller et al. (1992) identified a heterozygous mutation in the ...