Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 (EDSKSCL2)

Ehlers-Danlos综合征脊柱侧凸型2型(来自ICD-11)

别称:

Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

Ehlers-Danlos Syndrome Kyphoscoliotic Type 2

Edskscl2

Edskmh

Ehlers-Danlos Syndrome, with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

Ehlers-Danlos Syndrome with Kyphoscoliosis, Myopathy, and Hearing Loss

Ehlers-Danlos Syndrome with Kyphoscoliosis, Myopathy, and Deafness

Kyphoscoliotic Ehlers-Danlos Syndrome Due to Fkbp22 Deficiency

Ehlers-Danlos Syndrome, Kyphoscoliotic and Deafness Type

Ehlers-Danlos Syndrome, Kyphoscoliotic, Type 2

Kyphoscoliotic Eds Due to Fkbp22 Deficiency

Fkbp22-Deficient Eds

Fkbp14-Related Eds

Keds-Fkbp14

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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

Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2，又称进行性脊柱侧弯、肌病和听力损失型 Ehlers-Danlos 综合征，与 Ullrich 先天性肌肉萎缩症 1 和肌营养不良症，LMNA 关联型有关。与 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 关联的重要基因是 FKBP14（FKBP脯氨酸异构酶14）。关联组织包括皮肤和骨骼肌，相关表型包括扁平足和感觉神经性听力损失。

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