Neuropathy, Hereditary Sensory, Type Iic (HSN2C)

Alias:
Hsn2c
Neuropathy, Hereditary Sensory, Type 2c
Hereditary Sensory Neuropathy Type Iic
Hereditary Sensory Neuropathy Type 2c
Neuropathy, Sensory, Hereditary, Type Iic
Neuropathy, Hereditary Sensory, 2c
Hsn Iice
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neuropathy, Hereditary Sensory, Type Iic, also known as hsn2c, is related to spastic paraplegia 48, autosomal recessive and spastic paraplegia 77, autosomal recessive. An important gene associated with Neuropathy, Hereditary Sensory, Type Iic is KIF1A (Kinesin Family Member 1A), and among its related pathways/superpathways is trans-Golgi Network Vesicle Budding. Affiliated tissues include brain and peripheral nerve, and related phenotypes are distal lower limb muscle weakness and foot dorsiflexor weakness
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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14
80
33

Medical Symptom

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

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
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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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