Charcot-Marie-Tooth Disease, Type 4a (CMT4A)

Alias:
Charcot-Marie-Tooth Disease Type 4a
Cmt4a
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4a
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive, Type 4a
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4a
Charcot-Marie-Tooth Disease Neuropathy Type 4a
Charcot-Marie-Tooth Neuropathy, Type 4a
Charcot-Marie-Tooth Neuropathy Type 4a
Charcot-Marie-Tooth Disease 4a
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Charcot-Marie-Tooth Disease, Type 4a, also known as charcot-marie-tooth disease type 4a, is related to charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive and charcot-marie-tooth disease, axonal, type 2k. An important gene associated with Charcot-Marie-Tooth Disease, Type 4a is GDAP1 (Ganglioside Induced Differentiation Associated Protein 1). Affiliated tissues include peripheral nerve, and related phenotypes are decreased nerve conduction velocity and emg abnormality
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
10
51
80

Medical Symptom

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

Gene & Mutation

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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
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IF
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