Methylmalonic Aciduria and Homocystinuria, Cblx Type (MAHCX)

甲基丙二酸血症合并同型半胱氨酸血症cblX型(来自ICD-11)

别称:

Methylmalonic Acidemia with Homocystinuria, Type Cblx

Mental Retardation, X-Linked 3

Combined Defect in Adenosylcobalamin and Methylcobalamin Synthesis, Type Cblx

Methylmalonic Aciduria with Homocystinuria, Type Cblx

Methylmalonic Acidemia and Homocysteinemia Cblx Type

Intellectual Developmental Disorder, X-Linked 3

Mahcx

Xlid3

Mrx3

Methylmalonic Aciduria and Homocysteinemia , Cblx Type

Methylmalonic Acidemia and Homocysteinemia, Cblx Type

Methylmalonic Aciduria and Homocysteinemia, Cblx Type

Mental Retardation, X-Linked, Type 3

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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

甲硫氨酸血症和高半胱氨酸血症，Cblx型，也称为Cblx型甲硫氨酸血症和高半胱氨酸血症，与高半胱氨酸血症和甲硫氨酸血症有关。与甲硫氨酸血症和高半胱氨酸血症，Cblx型相关的基因是HCFC1（宿主细胞因子C1），其相关通路/超级通路包括DNA损伤和染色质调节/乙酰化。附属组织包括大脑，相关表型为舞蹈病和高半胱氨酸血症。

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