Charcot-Marie-Tooth Disease, Type 4d (CMT4D)

Alias:

Charcot-Marie-Tooth Disease Type 4d

Cmt4d

Hmsn4d

Hmsnl

Neuropathy, Hereditary Motor and Sensory, Lom Type

Hereditary Motor and Sensory Neuropathy Lom Type

Charcot-Marie-Tooth Neuropathy Type 4d

Hmsn-Lom

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4d

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4d

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4d

Hereditary Motor and Sensory Neuropathy, Lom Type

Hereditary Motor and Sensory Neuropathy Ivd

Charcot-Marie-Tooth Neuropathy, Type 4d

Charcot-Marie-Tooth Disease 4d

Hmsn, Lom Type

Hmsn Lom Type

Hmsn Ivd

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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

Charcot-Marie-Tooth病4型，也称为Charcot-Marie-Tooth病4型，与遗传性感觉神经病和遗传性神经病有关。Charcot-Marie-Tooth病4型的一个重要相关基因是NDRG1（N-Myc下游调节1），其相关通路/超级通路包括甘油磷脂生物合成和磷脂代谢。相关组织包括舌和骨，相关表型为运动神经传导速度降低和远端下肢肌肉无力。

Related ID：

MALACARDS：CHR376

OMIM：601455

MESH：D002607