Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive (CHN1)

Alias:

Charcot-Marie-Tooth Disease Type 4e

Charcot-Marie-Tooth Disease Type 4

Hereditary Motor and Sensory Neuropathy

Cmt4e

Autosomal Recessive Demyelinating Charcot-Marie-Tooth

Hypomyelinating Neuropathy, Congenital, 1

Neuropathy, Congenital Hypomyelinating, 1

Charcot-Marie-Tooth Neuropathy Type 4e

Ar-Cmt1

Chn1

Cmt4

Neuropathy, Congenital Hypomyelinating or Amyelinating, Autosomal Recessive

Autosomal Recessive Congenital Hypomyelinating or Amyelinating Neuropathy

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive

Autosomal Recessive Congenital Hypomyelinating Neuropathy

Congenital Hypomyelinating Neuropathy Autosomal Recessive

Neuropathy, Congenital Hypomyelinating or Amyelinating

Hereditary Motor and Sensory Neuropathy, Types I-Iv

Hmsn - [hereditary Motor and Sensory Neuropathy]

Hsmn - [hereditary Sensory and Motor Neuropathy]

Neuropathy, Hypomyelinating, Congenital, Type 1

Neuropathy, Motor and Sensory, Hereditary

Hereditary Motor and Sensory Neuropathies

Charcot-Marie-Tooth Neuropathy, Type 4e

Congenital Hypomyelinating Neuropathy

Charcot-Marie-Tooth Disease, Type 4e

Hereditary Sensory Motor Neuropathy

Hypomyelination, Severe Congenital

Congenital Amyelinating Neuropathy

Hereditary Sensorimotor Neuropathy

Severe Congenital Hypomyelination

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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

先天性脱髓鞘性周围神经病1型，常染色体隐性遗传，又称Charcot-Marie-Tooth病4e，与Charcot-Marie-Tooth病1b型脱髓鞘和Charcot-Marie-Tooth病1a型脱髓鞘有关。与先天性脱髓鞘性周围神经病1型，常染色体隐性遗传相关的基因是EGR2（早期生长反应2），其相关通路/超通路包括甘油磷脂生物合成和磷脂代谢。在该疾病的背景下，已提到的药物有抗坏血酸和微量营养素。相关组织包括周围神经系统、背根神经节和脊髓，相关表型为呼吸功能不全和新生儿肌张力低下。

Related ID：

MALACARDS：NRP063

OMIM：605253

MESH：D002607

ICD11：1538134578