Charcot-Marie-Tooth Disease, Axonal, Type 2p (CMT2P)

Alias:
Charcot-Marie-Tooth Disease Axonal Type 2p
Cmt2p
Charcot-Marie-Tooth Disease Type 2p
Cmt2g
Charcot-Marie-Tooth Disease, Axonal, Type 2g, Formerly
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g
Charcot-Marie-Tooth Neuropathy Axonal Type 2p
Charcot-Marie-Tooth Disease, Axonal, Type 2g
Charcot-Marie-Tooth Disease, Axonal Type 2g
Charcot-Marie-Tooth Neuropathy, Type 2p
Charcot-Marie-Tooth Disease, Axonal, 2p
Charcot-Marie-Tooth Neuropathy Type 2p
Charcot-Marie-Tooth Disease, Type 2p
Cmt2g, Formerly
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Charcot-Marie-Tooth Disease, Axonal, Type 2p, also known as charcot-marie-tooth disease axonal type 2p, is related to hereditary sensory neuropathy and neuropathy, and has symptoms including muscular fasciculation and muscle cramp. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2p is LRSAM1 (Leucine Rich Repeat And Sterile Alpha Motif Containing 1), and among its related pathways/superpathways are NgR-p75(NTR)-Mediated Signaling and Intracellular trafficking proteins involved in CMT neuropathy. Affiliated tissues include peripheral nerve, and related phenotypes are hammertoe and areflexia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Adolescent
<1/1000000
14
79
23

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
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No data available

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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IF
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