Ichthyosis, Congenital, Autosomal Recessive 5 (ARCI5)

Alias:
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive
Autosomal Recessive Congenital Ichthyosis 5
Ichthyosis Congenita Iii
Arci5
Ichthyosis, Lamellar, 3, Formerly
Ichthyosis, Lamellar, 3
Nnci
Non-Lamellar and Non-Erythrodermic Congenital Autosomal Recessive Ichthyosis
Autosomal Recessive Congenital Nonlamellar and Nonerythrodermic Ichthyosis
Ichthyosis, Congenital, Autosomal Recessive, Type 5
Lamellar Ichthyosis 3
Li3, Formerly
Li3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ichthyosis, Congenital, Autosomal Recessive 5, also known as ichthyosis, nonlamellar and nonerythrodermic, congenital, autosomal recessive, is related to ichthyosis, congenital, autosomal recessive 1 and turner syndrome. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 5 is CYP4F22 (Cytochrome P450 Family 4 Subfamily F Member 22). Affiliated tissues include Epidermis and skin, and related phenotypes are palmoplantar keratoderma and erythroderma
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
4
18

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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