Bernard-Soulier syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Hemorrhagiparous thrombocytic dystrophy
Giant platelet syndrome
Number of Symptoms 11
OrphanetNr: 274
OMIM Id: 153670
231200
ICD-10: D69.1
UMLs: C0005129
MeSH: D001606
MedDRA: 10057473
Snomed: 54569005

Prevalence, inheritance and age of onset:

Prevalence: 100 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Inherited giant platelet disorder
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000132) Menorrhagia 40 / 7739
2
 (HPO:0000421) Epistaxis 85 / 7739
3
 (HPO:0000225) Gingival bleeding 28 / 7739
4
 (HPO:0001744) Splenomegaly 337 / 7739
5
 (HPO:0000978) Bruising susceptibility 123 / 7739
6
 (HPO:0000967) Petechiae 26 / 7739
7
 (HPO:0011877) Increased mean platelet volume 9 / 7739
8
 (HPO:0001878) Hemolytic anemia 83 / 7739
9
 (HPO:0004446) Stomatocytosis 11 / 7739
10
 (HPO:0006298) Prolonged bleeding after dental extraction 3 / 7739
11
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: