Cerebral Creatine Deficiency Syndrome 1 (CCDS1)

Alias:

Creatine Transporter Deficiency

Creatine Transporter Defect

Creatine Deficiency Syndrome, X-Linked

X-Linked Creatine Deficiency Syndrome

Slc6a8 Deficiency

Ccds1

Mental Retardation, X-Linked, with Seizures, Short Stature, and Midface Hypoplasia

Mental Retardation, X-Linked, with Creatine Transport Deficiency

Deficiency, Cerebral Creatine, Syndrome, Type 1

Slc6a8-Related Creatine Transporter Deficiency

Creatine Deficiency, X-Linked

X-Linked Creatine Deficiency

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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

脑肌酸缺乏症1，也称为肌酸转运蛋白缺乏症，与脑肌酸缺乏症3和脑肌酸缺乏症2有关，症状包括便秘、肌肉痉挛和癫痫发作。与脑肌酸缺乏症1有关的重要基因是SLC6A8（溶质载体家族6成员8），其相关通路/超级通路包括代谢和SLITs和ROBOs的表达调控。在该疾病的背景下提到了煤焦油和肌酸。相关组织包括大脑和心脏，相关表型为智力障碍和全球发育延迟。

Related ID：

MALACARDS：CRB151

OMIM：300352

MESH：D020739