Neuropathy, Hereditary Motor and Sensory, Russe Type (HMSNR)

Alias:
Charcot-Marie-Tooth Disease Type 4g
Hmsnr
Cmt4g
Hereditary Motor and Sensory Neuropathy, Russe Type
Charcot-Marie-Tooth Neuropathy Type 4g
Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4g
Autosomal Recessive Charcot-Marie-Tooth Disease Type 4g
Charcot-Marie-Tooth Disease Autosomal Recessive Type 4g
Hereditary Motor and Sensory Neuropathy Russe Type
Charcot-Marie-Tooth Neuropathy, Type 4g
Charcot-Marie-Tooth Disease, Type 4g
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neuropathy, Hereditary Motor and Sensory, Russe Type, also known as charcot-marie-tooth disease type 4g, is related to hereditary sensory neuropathy and sensory peripheral neuropathy. An important gene associated with Neuropathy, Hereditary Motor and Sensory, Russe Type is HK1 (Hexokinase 1), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and PI Metabolism. Affiliated tissues include peripheral nerve, and related phenotypes are areflexia and decreased motor nerve conduction velocity
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
1-5/10000
12
83
7

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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