Autosomal Recessive Congenital Ichthyosis (LI)

Alias:
Lamellar Ichthyosis
Congenital Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma
Li
Non-Bullous Congenital Ichthyosiform Erythroderma
Erythrodermic Ichthyosis
Ichthyosis, Lamellar
Arci
Cie
Non Bullous Congenital Ichthyosiform Erythroderma
Congenital Non-Bullous Ichthyosiform Erythroderma
Nonbullous Congenital Ichthyosiform Erythroderma
Ichthyosiform Erythroderma Nonbullous Congenital
Ichthyosis, Congenital, Autosomal Recessive
Ichthyosiform Erythroderma, Congenital
Non-Bullous Ichthyosiform Erythroderma
Nonbullous Ichthyosiform Erythroderma
Ichthyosiform Erythroderma Congenital
Congenital Lamellar Ichthyosis
Classic Lamellar Ichthyosis
Collodion Baby Syndrome
Ichthyoses, Lamellar
Collodion Fetus
Collodion Baby
Nbcie
Nbie
Ncie
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Autosomal Recessive Congenital Ichthyosis, also known as lamellar ichthyosis, is related to ichthyosis, congenital, autosomal recessive 1 and ichthyosis, congenital, autosomal recessive 4a. An important gene associated with Autosomal Recessive Congenital Ichthyosis is ALOX12B (Arachidonate 12-Lipoxygenase, 12R Type), and among its related pathways/superpathways are Keratinization and Prostaglandin 2 biosynthesis and metabolism FM. The drugs Ustekinumab and Bezafibrate have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are ichthyosis and abnormality of the nail
Related ID:
MESH:D017490
ICD11:430849255

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
1-9/1000000
96
515
88

Medical Symptom

#
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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