Ichthyosis with Confetti (IWC)

Alias:
Congenital Reticular Ichthyosiform Erythroderma
Crie
Iwc
Erythroderma, Ichthyosiform, Congenital Reticular
Ichthyosis Variegata
Erythrokeratoderma, Reticular
Ichthyosis Variegata Micropinnae, Alopecia Universalis, Congenital Ichthyosis, and Ectropion
Reticular Erythrokeratoderma
Mauie Syndrome
Aarau Disease
Mauie
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ichthyosis with Confetti, also known as congenital reticular ichthyosiform erythroderma, is related to ichthyosis and palmoplantar keratosis. An important gene associated with Ichthyosis with Confetti is KRT10 (Keratin 10), and among its related pathways/superpathways is Keratinization. Affiliated tissues include skin and breast, and related phenotypes are short stature and ichthyosis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
2
9
18

Medical Symptom

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

Gene & Mutation

#
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

Title
PMID
Journal
Year
IF
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