Ichthyosis, Congenital, Autosomal Recessive 1 (ARCI1)

Alias:
Autosomal Recessive Congenital Ichthyosis 1
Ichthyosis Congenita Ii
Collodion Fetus
Lamellar Exfoliation of Newborn
Desquamation of Newborn
Ichthyosis Congenita
Arci1
Ichthyosis, Congenital, Autosomal Recessive 1, with Bathing Suit Distribution
Ichthyosis, Lamellar, 1, Formerly
Collodion Baby, Self-Healing
Self-Healing Collodion Baby
Bathing Suit Ichthyosis
Shcb
Icr2
Autosomal Recessive Congenital Ichthyosis 1 with Bathing Suit Distribution
Autosomal Recessive Congenital Ichthyosis Tgm1-Related
Ichthyosis, Congenital, Autosomal Recessive, Type 1
Non-Erythrodermic Ichthyosis
Lamellar Ichthyosis 1
Congenital Ichthyosis
Li1, Formerly
Bsi
Li1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ichthyosis, Congenital, Autosomal Recessive 1, also known as autosomal recessive congenital ichthyosis 1, is related to ichthyosis, congenital, autosomal recessive 3 and self-improving collodion baby, and has symptoms including trichorrhexis invaginata An important gene associated with Ichthyosis, Congenital, Autosomal Recessive 1 is TGM1 (Transglutaminase 1), and among its related pathways/superpathways is Prostaglandin 2 biosynthesis and metabolism FM. The drugs Ustekinumab and Dermatologic Agents have been mentioned in the context of this disorder. Affiliated tissues include Epidermis, skin and eye, and related phenotypes are ichthyosis and thickened skin
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
12
62
103

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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