Galloway-Mowat Syndrome 1 (GAMOS1)

Alias:

Scar5

Nephrosis-Neuronal Dysmigration Syndrome

Nephrosis-Microcephaly Syndrome

Galloway Syndrome

Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome

Microcephaly, Hiatal Hernia, and Nephrotic Syndrome

Microcephaly, Hiatal Hernia and Nephrotic Syndrome

Galloway-Mowat Syndrome

Camos Syndrome

Gamos1

Camos

Cerebellar Ataxia with Mental Retardation, Optic Atrophy, and Skin Abnormalities

Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly

Spinocerebellar Ataxia, Autosomal Recessive, 5

Spinocerebellar Ataxia, Autosomal Recessive 5

Autosomal Recessive Spinocerebellar Ataxia 5

Nephrosis Neuronal Dysmigration Syndrome

Galloway Mowat Syndrome

Scar5, 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

Galloway-Mowat Syndrome 1，也被称为scar5，与Galloway-Mowat Syndrome 2和多微小脑回有关。与Galloway-Mowat Syndrome 1相关的基因是WDR73（WD重复域73），其相关通路/超通路包括tRNA处理和肾细胞线粒标记。附属组织包括皮肤和眼睛，相关表型为智力障碍和共济失调。

Related ID：

MALACARDS：GLL038

OMIM：251300

MESH：D006551