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Tufted angioma

ORPHA:1063DiseaseMultigenic/multifactorial, Not applicableAll ages

Ассоциированные гены (1)

GNA14
G protein subunit alpha 14
Disease-causing somatic mutation(s) in
OMIM: 604397

Фенотипы (16)

Частый (30–79%)3
HP:0000975Hyperhidrosis
HP:0001903Anemia
HP:0011355Localized skin lesion
Периодический (5–29%)13
HP:0000329Facial hemangioma
HP:0000565Esotropia
HP:0000967Petechiae
HP:0000979Purpura
HP:0000998Hypertrichosis
HP:0001873Thrombocytopenia
HP:0003401Paresthesia
HP:0005548Megakaryocytopenia
HP:0008069Neoplasm of the skin
HP:0010990Abnormality of the common coagulation pathway
HP:0011900Hypofibrinogenemia
HP:0012531Pain
HP:0031490Hemangioma of the lip

Эпидемиология (2)

Cases/families
Worldwide
Point prevalence
Unknown
Worldwide

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы