Charcot-Marie-Tooth Disease, Axonal, Type 2f (CMT2F)

Alias:
Charcot-Marie-Tooth Disease Axonal Type 2f
Cmt2f
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f
Charcot-Marie-Tooth Neuropathy Type 2f
Charcot-Marie-Tooth Disease, Neuronal, Type 2f
Charcot-Marie-Tooth Disease Neuronal Type 2f
Charcot-Marie-Tooth Neuropathy, Type 2f
Charcot-Marie-Tooth Disease, Axonal, 2f
Charcot-Marie-Tooth Neuronal Type 2f
Charcot-Marie-Tooth Disease, Type 2f
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Charcot-Marie-Tooth Disease, Axonal, Type 2f, also known as charcot-marie-tooth disease axonal type 2f, is related to distal hereditary motor neuronopathy type 2b and hereditary sensory neuropathy, and has symptoms including muscular fasciculation and muscle cramp. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2f is HSPB1 (Heat Shock Protein Family B (Small) Member 1), and among its related pathways/superpathways are Neural crest differentiation and Intracellular trafficking proteins involved in CMT neuropathy. Affiliated tissues include peripheral nerve, and related phenotypes are reduced tendon reflexes and talipes equinovarus
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adolescent
<1/1000000
17
131
45

Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
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References Literature

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