Charcot-Marie-Tooth Disease, Dominant Intermediate F (CMTDIF)

Alias:
Charcot-Marie-Tooth Disease Dominant Intermediate F
Cmtdif
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type F
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type F
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Charcot-Marie-Tooth Disease, Dominant Intermediate F, also known as charcot-marie-tooth disease dominant intermediate f, is related to charcot-marie-tooth disease type 1g and ulnar neuropathy. An important gene associated with Charcot-Marie-Tooth Disease, Dominant Intermediate F is GNB4 (G Protein Subunit Beta 4), and among its related pathways/superpathways is tRNA Aminoacylation. Related phenotypes are distal lower limb muscle weakness and hammertoe
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
<1/1000000
8
46
5

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

Name
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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