Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy

Alias:
Charcot-Marie-Tooth Disease with Palmoplantar Keratoderma and Nail Dystrophy
Palmoplantar Keratoderma-Hereditary Motor and Sensory Neuropathy Syndrome
Palmoplantar Keratoderma-Charcot-Marie-Tooth Syndrome
Axonal Neuropathy with Palmoplantar Keratoderma
Powell Venencie Gordon Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy, also known as charcot-marie-tooth disease with palmoplantar keratoderma and nail dystrophy, is related to charcot-marie-tooth disease, and has symptoms including muscle spasticity An important gene associated with Keratoderma, Palmoplantar, with Nail Dystrophy and Hereditary Motor-Sensory Neuropathy is KRT1 (Keratin 1). Affiliated tissues include skin.

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
<1/1000000
2
14
3

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
Year
IF
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