Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature (FILS)

Alias:
Fils Syndrome
Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome
Livedo Reticularis
Fils
Cutis Marmorata
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature, also known as fils syndrome, is related to colorectal cancer 12 and sneddon syndrome, and has symptoms including flushing, icterus and pruritus. An important gene associated with Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature is POLE (DNA Polymerase Epsilon, Catalytic Subunit). Affiliated tissues include skin and b cells, and related phenotypes are decreased circulating total igm and short stature
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
8
2

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

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
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IF
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