Charcot-Marie-Tooth Disease, Demyelinating, Type 1a (CMT1A)

Alias:

Charcot-Marie-Tooth Disease Type 1a

Cmt1a

Charcot-Marie-Tooth Disease, Type Ia

Microduplication 17p12

Hmsn1a

Hereditary Motor and Sensory Neuropathy Ia

Charcot-Marie-Tooth Neuropathy, Type 1a

Charcot-Marie-Tooth Neuropathy Type 1a

Charcot-Marie-Tooth Disease, Type 1a

Hmsn Ia

Charcot-Marie-Tooth Disease, Autosomal Dominant, with Focally Folded Myelin Sheaths, Type 1a

Autosomal Dominant Charcot-Marie-Tooth Disease with Focally Folded Myelin Sheaths Type 1a

Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked to Duffy

Charcot-Marie-Tooth Disease Demyelinating Type 1a

Charcot-Marie-Tooth Disease, Demyelinating, 1a

Hereditary Motor and Sensory Neuropathy 1a

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Demyelinating, Type 1a, also known as charcot-marie-tooth disease type 1a, is related to roussy-levy hereditary areflexic dystasia and charcot-marie-tooth disease, axonal, type 2a1. An important gene associated with Charcot-Marie-Tooth Disease, Demyelinating, Type 1a is PMP22 (Peripheral Myelin Protein 22), and among its related pathways/superpathways are Neural crest differentiation and Intracellular trafficking proteins involved in CMT neuropathy. The drugs Naltrexone and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and tonsil, and related phenotypes are gait disturbance and skeletal muscle atrophy

Related ID：

MALACARDS：CHR627

OMIM：118220

MESH：D002607