Details of Disease | DrugMAP

General Information of Disease (ID: DISNG54P)

Disease Name	Qualitative platelet defect
Synonyms	qualitative platelet deficiency; qualitative platelet defect
Disease Hierarchy	DISOOSU2: Blood platelet disease DISNG54P: Qualitative platelet defect
Disease Identifiers	MONDO ID MONDO_0001197 UMLS CUI C0235604 MedGen ID 536418

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TBXA2R	TT2O84V	Moderate	Autosomal dominant	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCC4	DTCSGPB	Moderate	Autosomal recessive	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABCC4	OTO27PAL	Moderate	Autosomal recessive	[1]
TBXA2R	OT9CIHQ5	Moderate	Autosomal dominant	[1]
PRKACG	OTKOQYF8	Strong	Biomarker	[2]
------------------------------------------------------------------------------------

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.
2	A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene. Blood. 2014 Oct 16;124(16):2554-63. doi: 10.1182/blood-2014-01-551820. Epub 2014 Jul 24.