Charcot-Marie-Tooth Disease, Dominant Intermediate a (CMTDIA)

Alias:
Cmtdia
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type a
Charcot-Marie-Tooth Disease Dominant Intermediate a
Di-Cmta
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate a
Charcot-Marie-Tooth Neuropathy Dominant Intermediate a
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Charcot-Marie-Tooth Disease, Dominant Intermediate a, also known as cmtdia, is related to charcot-marie-tooth disease, recessive intermediate c and charcot-marie-tooth disease type 1g, and has symptoms including muscle cramp An important gene associated with Charcot-Marie-Tooth Disease, Dominant Intermediate a is CMTD1A (Charcot-Marie-Tooth Disease, Dominant Intermediate A), and among its related pathways/superpathways is Intracellular trafficking proteins involved in CMT neuropathy. Affiliated tissues include skeletal muscle, and related phenotypes are distal amyotrophy and emg: neuropathic changes
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
<1/1000000
6
47
5

Medical Symptom

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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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