Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations (RVCLS)

视网膜血管病伴有脑白质脑病和全身表现(来自ICD-11)

别称:

Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations

Vasculopathy, Retinal, with Cerebral Leukodystrophy

Crv

Retinal Vasculopathy with Cerebral Leukodystrophy

Cerebroretinal Vasculopathy

Rvcl-S

Rvcl

Retinopathy, Vascular, with Cerebral and Renal Involvement and Raynaud and Migraine Phenomena

Retinal Vasculopathy and Cerebral Leukoencephalopathy

Hereditary Vascular Retinopathy

Rvcls

Herns

Vascular Retinopathy with Cerebral and Renal Involvement and Raynaud and Migraine Phenomena

Hereditary Endotheliopathy with Retinopathy-Nephropathy-Stroke

Vasculopathy, Retinal, with Cerebral Leukodystrophy, Formerly

Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke

Cerebroretinal Vasculopathy, Hereditary

Hereditary Cerebroretinal Vasculopathy

Hereditary Systemic Angiopathy

Hsa

Hvr

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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

血管性视网膜病变伴脑白质病变和系统性表现，也称为视网膜血管性脑白质病变和系统性表现，与血管性痴呆和Aicardi-Goutieres综合症有关，症状包括偏瘫和癫痫发作。与血管性视网膜病变伴脑白质病变和系统性表现有关的重要基因是TREX1（三重修复外切核酸酶1），其相关通路/超级通路包括病原体相关DNA胞质传感器和结直肠癌的上皮细胞向间充质转变。在该疾病的背景下提到了免疫球蛋白和抗体。相关组织包括视网膜和眼睛，相关表型为视网膜血管形态异常和脑白质形态异常。

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