Macs Syndrome (MACS)

MACS综合征(来自ICD-11)

别称:

Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis

Anophthalmia-Microphthalmia Syndrome

Mycobacterium Avium Complex Disease

Colobomatous Microphthalmia

Rin2 Syndrome

Mac

Tall Forehead, Sparse Hair, Skin Hyperextensibility, and Scoliosis

Microphthalmia-Anophthalmia-Coloboma Syndrome

Mycobacterium Avium-Intracellulare Infection

Microphthalmia with Colobomatous Cyst

Mycobacterium Avium Infection

Tall Forehead-Sparse Hair-Skin Hyperextensibility-Scoliosis Syndrome

Macrocephaly Alopecia Cutis Laxa and Scoliosis Syndrome

Macrocephaly-Alopecia-Cutis Laxa-Scoliosis Syndrome

Infection Due to Mycobacterium Intracellulare

Microphthalmia-Anophthalmia-Coloboma

Microphthalmia and Mental Deficiency

Mycobacterium Avium Complex

Rin2 Deficiency

Mac Disease

Macs

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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

Macs 综合症，又称为巨脑、脱发、松弛性皮肤和脊柱侧弯，与小眼症、综合症 9 和黄斑区的先天性缺损有关，症状包括眼睑肿胀。与Macs 综合症相关的重要基因是RIN2（Ras And Rab Interactor 2），其相关通路/超级通路包括胚层化和中胚层承诺通路。在该疾病的背景下，已提到的药物包括Pharmaceutical Solutions和Amikacin。相关组织包括皮肤和眼睛，相关表型为脊柱侧弯和高腭。

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