Charcot-Marie-Tooth Disease Intermediate Type

Alias:
Intermediate Charcot-Marie-Tooth Disease
Intermediate Hereditary Motor and Sensory Neuropathy
Charcot-Marie-Tooth Disease Recessive Intermediate
Charcot-Marie-Tooth Disease Dominant Intermediate
Charcot-Marie-Tooth Disease, Intermediate Type
Charcot-Marie-Tooth, Intermediate
Intermediate Cmt
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Charcot-Marie-Tooth Disease Intermediate Type, also known as intermediate charcot-marie-tooth disease, is related to charcot-marie-tooth disease, recessive intermediate d and charcot-marie-tooth disease, recessive intermediate c. An important gene associated with Charcot-Marie-Tooth Disease Intermediate Type is YARS1 (Tyrosyl-TRNA Synthetase 1), and among its related pathways/superpathways are Metabolism of proteins and Peptide chain elongation.
Related ID:
ICD11:1389094589

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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19
114
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Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
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
Journal
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IF
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