Short-Rib Thoracic Dysplasia 3 with or Without Polydactyly (SRTD3)

短肋胸廓发育不良3型伴或不伴多指畸形(来自ICD-11)

别称:

Asphyxiating Thoracic Dystrophy 3

Saldino-Noonan Syndrome

Verma-Naumoff Syndrome

Srps2b

Srtd3

Srps1

Srps3

Atd3

Polydactyly with Neonatal Chondrodystrophy, Type Iii

Polydactyly with Neonatal Chondrodystrophy, Type I

Short Rib-Polydactyly Syndrome, Type Iib

Short Rib-Polydactyly Syndrome, Type I

Majewski Syndrome

Dysplasia, Short-Rib Thoracic, Type 3, with/without Polydactyly

Polydactyly with Neonatal Chondrodystrophy Type Iii

Short Rib-Polydactyly Syndrome, Verma-Naumoff Type

Polydactyly with Neonatal Chondrodystrophy Type I

Short Rib-Polydactyly Syndrome, Type Iii

Short Rib-Polydactyly Syndrome Type Iib

Short Rib-Polydactyly Syndrome Type Iii

Type I Short Rib Polydactyly Syndrome

Jeune Asphyxiating Thoracic Dystrophy

Short Rib-Polydactyly Syndrome Type I

Jeune Syndrome 3

Srps Type Iib

Srps Type Iii

Jatd

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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

短肢胸椎发育不良3型，伴有或不伴有多指症，也称为窒息性胸椎发育不良3型，与口腔面部手指综合症IV和短肢胸椎发育不良6型伴有或不伴有多指症有关。与短肢胸椎发育不良3型伴有或不伴有多指症有关的重要基因是DYNC2H1（动力蛋白细胞质2重链1），其相关通路/超级通路包括细胞器生物发生和维护以及 Hedgehog 信号传导。相关组织包括胰腺和心脏，相关表型包括胼胝体缺失和腭裂。

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