Linear Skin Defects with Multiple Congenital Anomalies 1 (LSDMCA1)

Alias:

Midas Syndrome

Mls Syndrome

Mcops7

Microphthalmia, Syndromic 7

Microphthalmia with Linear Skin Defects Syndrome

Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome

Syndromic Microphthalmia Type 7

Microphthalmia, Dermal Aplasia, and Sclerocornea

Microphthalmia with Linear Skin Defects

Lsdmca1

Mls

Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome

Linear Skin Defects with Multiple Congenital Anomalies

Microphthalmia with Linear Skin Lesions Syndrome

Microphthalmia with Linear Skin Defect Syndrome

Microphthalmia, Dermal Aplasia and Sclerocornea

Microphthalmia, Syndromic, 7

Syndromic Microphthalmia 7

Microphthalmia Syndromic 7

Syndromic Microphthalmia-7

Midas

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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

线性皮肤缺陷伴多发先天性异常1，也称为米达斯综合症，与线性皮肤缺陷伴多发先天性异常2和小眼畸形有关。线性皮肤缺陷伴多发先天性异常1的一个重要基因是HCCS（血红素结合细胞色素C合成酶），其相关通路/超级通路包括过氧化物酶体脂质代谢。在该疾病的背景下，已提到药物佐米曲坦和神经递质药物。附属组织包括皮肤和眼睛，相关表型为角膜混浊和皮肤的缺如/发育不全

Related ID：

MALACARDS：LNR013

OMIM：309801

MESH：C537466