Charcot-Marie-Tooth Disease, Axonal, Type 2x (CMT2X)

Alias:
Charcot-Marie-Tooth Disease Axonal Type 2x
Cmt2x
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2x
Charcot-Marie-Tooth Neuropathy, Type 2x
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2 Due to Spg11 Mutation
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2x
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2x
Autosomal Recessive Charcot Marie Tooth Disease Type 2x
Charcot-Marie-Tooth Disease, Axonal, 2x
Charcot-Marie-Tooth Neuropathy Type 2x
Arcmt2x
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Charcot-Marie-Tooth Disease, Axonal, Type 2x, is also known as charcot-marie-tooth disease axonal type 2x. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2x is SPG11 (SPG11 Vesicle Trafficking Associated, Spatacsin). Affiliated tissues include peripheral nerve, and related phenotypes are distal lower limb muscle weakness and pes cavus
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
1
4
4

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
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Related Drugs

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Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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