Autosomal dominant macrothrombocytopenia

ORPHA:140957DiseaseAutosomal dominantAdolescent, Adult, Childhood, Elderly, Infancy

Ассоциированные гены10

Ген	Полное название	Тип связи	Тип гена	OMIM
TUBA8	tubulin alpha 8	Disease-causing germline mutation(s) in	gene with protein product	605742
GP1BA	glycoprotein Ib platelet subunit alpha	Disease-causing germline mutation(s) in	gene with protein product	606672
TRPM7	transient receptor potential cation channel subfamily M member 7	Disease-causing germline mutation(s) in	gene with protein product	605692
GFI1B	growth factor independent 1B transcriptional repressor	Disease-causing germline mutation(s) in	gene with protein product	604383
GP1BB	glycoprotein Ib platelet subunit beta	Disease-causing germline mutation(s) in	gene with protein product	138720
TPM4	tropomyosin 4	Disease-causing germline mutation(s) (loss of function) in	gene with protein product	600317
ITGA2B	integrin subunit alpha 2b	Disease-causing germline mutation(s) in	gene with protein product	607759
ITGB3	integrin subunit beta 3	Disease-causing germline mutation(s) in	gene with protein product	173470
TUBB1	tubulin beta 1 class VI	Disease-causing germline mutation(s) in	gene with protein product	612901
ACTN1	actinin alpha 1	Disease-causing germline mutation(s) in	gene with protein product	102575

Очень частый (80–99%)3

HP:0001873Thrombocytopenia

HP:0011877Increased mean platelet volume

HP:0040185Macrothrombocytopenia

Частый (30–79%)1

HP:0032438Platelet anisocytosis

Периодический (5–29%)5

HP:0000421Epistaxis

HP:0000978Bruising susceptibility

HP:0004846Prolonged bleeding after surgery

HP:0006298Prolonged bleeding after dental extraction

HP:0100608Metrorrhagia

Тип оценки	Класс распространённости	Среднее (на 100к)	Регион	Квалификация
Cases/families	—	100	Worldwide	Case(s)
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only

Источник: Open Targets Platform (в реальном времени)

Источник: ClinicalTrials.gov (в реальном времени)