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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive, also known as charcot-marie-tooth disease type 4e, is related to charcot-marie-tooth disease, demyelinating, type 1b and charcot-marie-tooth disease, demyelinating, type 1a. An important gene associated with Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive is EGR2 (Early Growth Response 2), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and PI Metabolism. The drugs Ascorbic acid and Micronutrients have been mentioned in the context of this disorder. Affiliated tissues include Peripheral Nervous System, dorsal root ganglion and spinal cord, and related phenotypes are respiratory insufficiency and neonatal hypotonia

Related ID：

MALACARDS：NRP063

OMIM：605253

MESH：D002607

ICD11：1538134578