Details of Disease | DrugMAP

General Information of Disease (ID: DISHFIE8)

Disease Name	Obsolete autosomal thrombocytopenia with normal platelets
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DISHFIE8: Obsolete autosomal thrombocytopenia with normal platelets

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ANKRD26	OT2ENKKV	Supportive	Autosomal dominant	[1]
CYCS	OTBFALJD	Supportive	Autosomal dominant	[2]
IKZF5	OTJN51OC	Supportive	Autosomal dominant	[3]
MASTL	OTQ7YKK5	Supportive	Autosomal dominant	[4]
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References

1	Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets. Pediatr Blood Cancer. 2015 Dec;62(12):2082-8. doi: 10.1002/pbc.25668. Epub 2015 Jul 14.
2	A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. Nat Genet. 2008 Apr;40(4):387-9. doi: 10.1038/ng.103. Epub 2008 Mar 16.
3	Germline mutations in the transcription factor IKZF5 cause thrombocytopenia. Blood. 2019 Dec 5;134(23):2070-2081. doi: 10.1182/blood.2019000782.
4	FLJ14813 missense mutation: a candidate for autosomal dominant thrombocytopenia on human chromosome 10. Hum Hered. 2003;55(1):66-70. doi: 10.1159/000071812.