Ichthyosis Hystrix, Curth-Macklin Type (IHCM)

Alias:
Ichthyosis Hystrix of Curth-Macklin
Ichthyosis Hystrix, Curth Macklin Type
Ihcm
Ichthyosis Histrix, Curth-Macklin Type
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ichthyosis Hystrix, Curth-Macklin Type, also known as ichthyosis hystrix of curth-macklin, is related to ichthyosis and palmoplantar keratosis. An important gene associated with Ichthyosis Hystrix, Curth-Macklin Type is KRT1 (Keratin 1), and among its related pathways/superpathways are Keratinization and COPI-independent Golgi-to-ER retrograde traffic. Affiliated tissues include skin, and related phenotypes are ichthyosis and hyperkeratosis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
2
10
14

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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