Details of Disease | DrugMAP

General Information of Disease (ID: DIS2ETRO)

Disease Name	Bernard-Soulier syndrome, type A2, autosomal dominant
Synonyms	Bernard-Soulier syndrome type A2; BSSA2; Bernard-Soulier syndrome, type A2, autosomal dominant; Bernard-Soulier syndrome, type A2 (dominant)
Definition	A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p.
Disease Hierarchy	DISLD1FU: Bernard-Soulier syndrome DIS2ETRO: Bernard-Soulier syndrome, type A2, autosomal dominant
Disease Identifiers	MONDO ID MONDO_0007930 UMLS CUI C3277076 OMIM ID 153670 MedGen ID 478706

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GP1BA	TTVB0Q9	Strong	Autosomal dominant	[1]
GP1BA	TTVB0Q9	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GP1BA	OT62PSOB	Strong	Autosomal dominant	[1]
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References

1	Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. Blood. 2001 Mar 1;97(5):1330-5. doi: 10.1182/blood.v97.5.1330.