Neuropathy, Hereditary Motor and Sensory, Okinawa Type (HMSNO)

Alias:
Hereditary Motor and Sensory Neuropathy, Okinawa Type
Hereditary Motor and Sensory Neuropathy, Proximal Type
Hmsnp
Hmsno
Hereditary Motor and Sensory Neuropathy, Proximal Type, Formerly
Neuropathy, Motor and Sensory, Hereditary, Okinawa Type
Hereditary Motor and Sensory Neuropathy Okinawa
Hmsnp, Formerly
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neuropathy, Hereditary Motor and Sensory, Okinawa Type, also known as hereditary motor and sensory neuropathy, okinawa type, is related to charcot-marie-tooth disease, axonal, type 2e, and has symptoms including muscular fasciculation An important gene associated with Neuropathy, Hereditary Motor and Sensory, Okinawa Type is TFG (Trafficking From ER To Golgi Regulator). Affiliated tissues include dorsal root ganglion and spinal cord, and related phenotypes are areflexia and cough
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adult
--
1
4
19

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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