Opitz Gbbb Syndrome (GBBB)

Opitz-Gbbb综合征(来自ICD-11)

别称:

Opitz G/bbb Syndrome

Hypertelorism-Hypospadias Syndrome

Opitz Syndrome

Hypospadias-Dysphagia Syndrome

Opitz Bbb/g Syndrome

Opitz-Frias Syndrome

Hypertelorism-Oesophageal Abnormality-Hypospadias Syndrome

Hypertelorism with Esophageal Abnormality and Hypospadias

Telecanthus-Hypospadias Syndrome

Opitz Gbbb Syndrome Type I

Opitz Bbbg Syndrome

Gbbb

Osx

Hypertelorism with Esophageal Abnormalities and Hypospadias

Opitz Gbbb Syndrome, Type I, Formerly

Opitz Bbbg Syndrome, Type I, Formerly

Opitz Gbbb Syndrome, Type 1, X-Linked

Opitz-G Syndrome, Type I, Formerly

Hypertelorism Hypospadias Syndrome

Hypertelorism-Hypospadias Sydrome

Opitz Gbbb Syndrome, X-Linked

X-Linked Opitz G/bbb Syndrome

Opitz Gbbb Syndrome X-Linked

Opitz Bbbg Syndrome Type I

Opitz Syndrome, X-Linked

Opitz G Syndrome, Type I

Opitz-G Syndrome Type I

Opitz Syndrome X-Linked

Opitz Bbb Syndrome

Opitz G Syndrome

Gbbb1, Formerly

Bbbg1, Formerly

Ogs1, Formerly

Bbbg1

Gggb1

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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

Opitz Gbbb 综合症，也被称为 Opitz G/BBB 综合症，与 mid1 相关的 Opitz G/BBB 综合症和伴有或不伴有牙齿异常的舌系带过短有关。与 Opitz Gbbb 综合症相关的重要基因是 MID1 (Midline 1)，其相关通路/超级通路包括肉碱合成。在该疾病的背景下提到了辛伐他汀和苯佐卡因。附属组织包括气管和心脏，相关表型为眼距增宽和宽鼻梁。

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