Ichthyosis, Congenital, Autosomal Recessive 10 (ARCI10)

Alias:
Autosomal Recessive Congenital Ichthyosis 10
Arci10
Ichthyosis, Congenital, Autosomal Recessive, Type 10
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ichthyosis, Congenital, Autosomal Recessive 10, also known as autosomal recessive congenital ichthyosis 10, is related to ichthyosis, congenital, autosomal recessive 1. An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 10 is PNPLA1 (Patatin Like Phospholipase Domain Containing 1). Affiliated tissues include 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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5
124
13

Medical Symptom

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

Gene & Mutation

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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
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IF
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