Fetal and neonatal alloimmune thrombocytopenia
ORPHA:853DiseaseNot applicableAntenatal, Neonatal
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| GP1BA | glycoprotein Ib platelet subunit alpha | Candidate gene tested in | gene with protein product | 606672 |
| GP1BB | glycoprotein Ib platelet subunit beta | Candidate gene tested in | gene with protein product | 138720 |
| ITGA2B | integrin subunit alpha 2b | Candidate gene tested in | gene with protein product | 607759 |
| ITGB3 | integrin subunit beta 3 | Major susceptibility factor in | gene with protein product | 173470 |
| ITGA2 | integrin subunit alpha 2 | Candidate gene tested in | gene with protein product | 192974 |
| CD109 | CD109 molecule | Candidate gene tested in | gene with protein product | 608859 |
Фенотипы (HPO)17
Облигатный (100%)1
HP:0004809Neonatal alloimmune thrombocytopenia
Частый (30–79%)5
HP:0000967Petechiae
HP:0000979Purpura
HP:0001892Abnormal bleeding
HP:0007420Spontaneous hematomas
HP:0012541Cephalohematoma
Периодический (5–29%)5
HP:0000790Hematuria
HP:0002170Intracranial hemorrhage
HP:0002239Gastrointestinal hemorrhage
HP:0002249Melena
HP:0031364Ecchymosis
Очень редкий (1–4%)6
HP:0000618Blindness
HP:0000707Abnormality of the nervous system
HP:0001263Global developmental delay
HP:0002138Subarachnoid hemorrhage
HP:0008619Bilateral sensorineural hearing impairment
HP:0100021Cerebral palsy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 39.6307 | Worldwide | Value and class |
| Prevalence at birth | 6-9 / 10 000 | 66.6667 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)