Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi (CLOVE)

Alias:

Cloves Syndrome

Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Skeletal Anomaly Syndrome

Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Spinal Anomaly Syndrome

Clove Syndrome, Somatic

Clove Syndrome

Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/spinal Abnormalities

Congenital Lipomatous Overgrowth Vascular Malformations Epidermal Nevi and Skeletal/spinal Abnormalities

Congenital Arteriovenous Malformation

Arteriovenous Hemangioma

Benign Melanocytic Nevus

Melanocytic Nevus

Clove

Nevus

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

先天性脂肪瘤样增生、血管畸形和表皮痣，也称为大蒜综合症，与快速退化的先天性血管瘤和血管畸形、先天性有关，症状包括胸痛、背痛和胸痛。与先天性脂肪瘤样增生、血管畸形和表皮痣有关的重要基因是PIK3CA（磷脂酰肌醇-4,5-二磷酸3激酶催化亚基α），其相关通路/超级通路包括先天免疫系统和传染病。在该疾病的背景下，已提到的药物有雷米芬太尼和坦西罗莫司。附属组织包括皮肤和骨骼，相关表型为半肢肥大和捆绑索。

Related ID：

MALACARDS：CNG510

OMIM：612918

MESH：D001165