Details of Disease

General Information of Disease (ID: DISPUR84)

• Disease Name: Platelet-type bleeding disorder 16
• Synonyms: thrombasthenia of Glanzmann and Naegeli, autosomal dominant; Glanzmann thrombasthenia, autosomal dominant; BDPLT16; bleeding disorder, platelet-type, 16; bleeding disorder, platelet-type, 16, autosomal dominant; autosomal dominant thrombasthenia of Glanzmann and Naegeli; autosomal dominant Glanzmann thrombasthenia; platelet-type bleeding disorder 16
• Definition: An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.
• Disease Hierarchy:
  DIS1DL2M: Inherited blood coagulation disorder
  DISIUNXT: Inherited bleeding disorder, platelet-type
  DISPUR84: Platelet-type bleeding disorder 16
• Disease Identifiers:
  MONDO ID: MONDO_0008552
  UMLS CUI: C5442010
  OMIM ID: 187800
  MedGen ID: 1781222

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ITGB3	TTJA1ZO	Moderate	Autosomal dominant	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ITGB3	OTWCK1K6	Moderate	Autosomal dominant	[1]
ITGA2B	OT4Y17PY	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.