Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 (EDSSPD1)

Ehlers-Danlos综合征脊柱发育不良型1型(来自ICD-11)

别称:

Ehlers-Danlos Syndrome with Short Stature and Limb Anomalies

Xylosylprotein 4-Beta-Galactosyltransferase Deficiency

Ehlers-Danlos Syndrome Spondylodysplastic Type 1

Galactosyltransferase I Deficiency

Xgpt Deficiency

Edsspd1

Edssla

Ehlers-Danlos, Progeroid, Spondylodysplastic Syndrome, Type 1

B4galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome, Progeroid Type, 1, Formerly

Proteodermatan Sulfate, Defective Biosynthesis of

Defective Biosynthesis of Proteodermatan Sulfate

Proteodermatan Sulfate Defective Biosynthesis of

Eds with Short Stature and Limb Anomalies

Ehlers-Danlos Syndrome, Progeroid Type, 1

B4galt7-Related Spondylodysplastic Eds

Ehlers-Danlos Syndrome, Progeroid Form

Pds, Defective Biosynthesis of

Dermatan Sulfate Proteoglycan

Defective Biosynthesis of Pds

Eds Progeroid Type 1

Edsp1, Formerly

Speds-B4galt7

Edsp1

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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, Spondylodysplastic Type, 1，又称短肢型埃勒斯-当洛斯综合症，与埃勒斯-当洛斯综合症，脊柱发育不全型2和埃勒斯-当洛斯综合症有关。Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1的一个重要基因是B4GALT7（β-1,4-半乳糖基转移酶7），其相关通路/超级通路包括代谢和硫酸软骨素/硫酸皮肤素代谢。相关组织包括皮肤和骨骼，相关表型为巨脑和肌张力减退。

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