Hypertrophic Neuropathy of Dejerine-Sottas (DSS)

Alias:
Dejerine-Sottas Disease
Charcot-Marie-Tooth Disease Type 3
Dejerine-Sottas Syndrome
Hereditary Motor and Sensory Neuropathy Type Iii
Hmsn Iii
Hereditary Motor and Sensory Neuropathy Type 3
Dejerine-Sottas Neuropathy
Hmsn 3
Hmsn3
Dss
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
Charcot-Marie-Tooth Disease Demyelinating Type 4f
Hereditary Motor and Sensory Neuropathy Iii
Charcot-Marie-Tooth Neuropathy Type 4f
Charcot-Marie-Tooth Disease, Type 3
Charcot-Marie-Tooth Disease Type 4f
Cmt4f
Cmt3
Dsn
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypertrophic Neuropathy of Dejerine-Sottas, also known as dejerine-sottas disease, is related to charcot-marie-tooth disease, demyelinating, type 4f and charcot-marie-tooth disease, demyelinating, type 1b, and has symptoms including ataxia, sensory An important gene associated with Hypertrophic Neuropathy of Dejerine-Sottas is PMP22 (Peripheral Myelin Protein 22), and among its related pathways/superpathways are Nervous system development and Neural crest differentiation. Affiliated tissues include tongue and dorsal root ganglion, and related phenotypes are nystagmus and scoliosis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Infant
<1/1000000
37
301
30

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

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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
Journal
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IF
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