Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome (HLTRS)

少毛-淋巴水肿-毛细管扩张-肾缺损综合征(来自ICD-11)

别称:

Telangiectatic Membranoproliferative Glomerulonephritis

Glomerulonephritis with Sparse Hair and Telangiectases

Hltrs

Hypotrichosis-Lymphedema-Telangiectasia-Membranoproliferative Glomerulonephritis Syndrome

Glomerulonephritis Sparse Hair Telangiectases

Hlt-Renal Defect Syndrome

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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

Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome，也被称为telangiectatic membranoproliferative glomerulonephritis，与hereditary lymphedema i和hypotrichosis-lymphedema-telangiectasia syndrome有关。与Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome相关的基因是SOX18（SRY-Box Transcription Factor 18），其相关通路/超级通路包括Endoderm differentiation和Deactivation of the beta-catenin transactivating complex。附属组织包括皮肤和睾丸，相关表型包括脱发和淋巴系统异常。

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