Bernard-soulier syndrome, type a2, autosomal dominant

Preferred Label : Bernard-soulier syndrome, type a2, autosomal dominant;

Symbol : BSSA2;

CISMeF acronym : BSSA2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the glycoprotein Ib, platelet, alpha polypeptide gene (GP1BA, 606672.0006);

Laboratory abnormalities : Normal platelet aggregation studies with ADP, collagen, and ristocetin; Low-normal platelet count (89-290 x 10(9)/L); Mean platelet volume (MPV) 12.6fL;

Prefixed ID : #153670;

Details

Origin ID

153670;

UMLS CUI

C3277076;

Automatic exact mappings (from CISMeF team)
- Bernard-Soulier syndrome type A2 [DO Concept]
Broader ORDO disease(s)
- Bernard-Soulier syndrome [ORDO Disease]
DO Cross reference
- Bernard-Soulier syndrome type A2 [DO Concept]
Genes related to phenotype
- Glycoprotein ib, platelet, alpha polypeptide [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Ecchymosis [HPO term]
- Epistaxis [HPO term]
- Gingival bleeding [HPO term]
- Hemolytic anemia [HPO term]
- Increased mean platelet volume [HPO term]
- Menorrhagia [HPO term]
- Mild splenomegaly [HPO term]
- Petechiae [HPO term]
- Prolonged bleeding after dental extraction [HPO term]
- Splenomegaly [HPO term]
- Stomatocytosis [HPO term]
ORDO concept(s)
- Bernard-Soulier syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Bernard-Soulier syndrome [ORDO Disease]

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