Ichthyosis, Congenital, Autosomal Recessive 4a (ARCI4A)

Alias:
Autosomal Recessive Congenital Ichthyosis 4a
Ichthyosis Congenita Iib
Arci4a
Icr2b
Ichthyosis, Lamellar, 2, Formerly
Lamellar Ichthyosis 2
Ichthyosis, Congenital, Autosomal Recessive, Type 4a
Ichthyosis, Lamellar 2
Li2, Formerly
Li2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ichthyosis, Congenital, Autosomal Recessive 4a, also known as autosomal recessive congenital ichthyosis 4a, is related to ichthyosis, congenital, autosomal recessive 1 and self-improving collodion baby. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 4a is ABCA12 (ATP Binding Cassette Subfamily A Member 12), and among its related pathways/superpathways are Keratinization and Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF). Affiliated tissues include Epidermis and skin, and related phenotypes are congenital nonbullous ichthyosiform erythroderma and palmoplantar keratoderma
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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14
78
15

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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