Details of Disease | DrugMAP

General Information of Disease (ID: DISPVLDT)

Disease Name	Platelet-type bleeding disorder 19
Synonyms	bleeding disorder, platelet-type, 19; BDPLT19; PRKACG isolated hereditary giant platelet disorder; severe autosomal recessive macrothrombocytopenia; isolated hereditary giant platelet disorder caused by mutation in PRKACG
Definition	Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene.
Disease Hierarchy	DISIUNXT: Inherited bleeding disorder, platelet-type DISPVLDT: Platelet-type bleeding disorder 19
Disease Identifiers	MONDO ID MONDO_0014518 UMLS CUI C4015405 OMIM ID 616176 MedGen ID 863842 Orphanet ID 438207

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
GNE	TT4DP5S	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GNE	OTNONPMB	Supportive	Autosomal recessive	[1]
PRKACG	OTKOQYF8	Supportive	Autosomal recessive	[2]
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References

1	GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting. Blood. 2018 Oct 25;132(17):1851-1854. doi: 10.1182/blood-2018-04-845545. Epub 2018 Aug 31.
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.