Charcot-Marie-Tooth Disease, Axonal, Type 2u (CMT2U)

Alias:
Charcot-Marie-Tooth Disease Axonal Type 2u
Cmt2u
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2u
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2u
Charcot-Marie-Tooth Neuropathy, Type 2u
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Mars Mutation
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2u
Charcot-Marie-Tooth Disease, Axonal, 2u
Charcot-Marie-Tooth Neuropathy Type 2u
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Charcot-Marie-Tooth Disease, Axonal, Type 2u, also known as charcot-marie-tooth disease axonal type 2u, is related to tooth disease and peripheral nervous system disease. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2u is MARS1 (Methionyl-TRNA Synthetase 1), and among its related pathways/superpathways are Metabolism of proteins and Peptide chain elongation. Affiliated tissues include lung and liver, and related phenotypes are gait disturbance and steppage gait
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adult
<1/1000000
10
48
2

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
No data available

Related Drugs

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CAS Number
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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PMID
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