Ehlers-Danlos Syndrome, Musculocontractural Type, 1 (EDSMC1)

Ehlers-Danlos综合征肌肉收缩型1型(来自ICD-11)

别称:

Ehlers-Danlos Syndrome, Musculocontractural Type 1

Adducted Thumb-Clubfoot Syndrome

Ehlers-Danlos Syndrome, Musculocontractural Type

Dundar Syndrome

Distal Arthrogryposis with Peculiar Facies and Hydronephrosis

Ehlers-Danlos Syndrome Musculocontractural Type 1

Musculocontractural Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome, Kosho Type

Musculocontractural Eds

Edsmc1

Edsmc

Mceds

Atcs

Adducted Thumb, Clubfoot, and Progressive Joint and Skin Laxity Syndrome

Arthrogryposis, Distal, with Peculiar Facies and Hydronephrosis

Arthrogryposis Distal with Peculiar Facies and Hydronephrosis

Ehlers-Danlos, Musculocontractural Syndrome, Type 1

Ehlers-Danlos, Musculocontractural Syndrome

Ehlers-Danlos Syndrome, Type Vib, Formerly

Adducted Thumbs-Arthrogryposis Dundar Type

Ehlers-Danlos Syndrome Type Vib Formerly

Adducted Thumb Club Foot Syndrome

Eds6b, Formerly

Dündar Syndrome

Eds6b Formerly

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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, Musculocontractural Type, 1，又称Ehlers-Danlos Syndrome, Musculocontractural Type 1，与先天性足内翻和外生骨疣有关，症状包括便秘。Ehlers-Danlos Syndrome, Musculocontractural Type, 1相关的重要基因是CHST14（Carbohydrate Sulfotransferase 14），其相关通路/超通路包括代谢和代谢途径生物转化I期和II期。相关组织包括皮肤和骨骼，相关表型包括脊柱侧弯和高腭。

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