Carbuncle

Alias:
Carbuncle and Furuncle of Any Part of Face Except Eye
Carbuncle and Furuncle of Upper Arm and Forearm
Carbuncle and Furuncle of Leg Except Foot
Carbuncle and Furuncle of Gluteal Region
Carbuncle and Furuncle of Buttock
Carbuncle and Furuncle of Trunk
Carbuncle and Furuncle of Face
Carbuncle and Furuncle of Foot
Carbuncle and Furuncle of Hand
Carbuncle and Furuncle of Neck
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Carbuncle, also known as carbuncle and furuncle of any part of face except eye, is related to erysipelas and pyelonephritis. An important gene associated with Carbuncle is MT-TH (Mitochondrially Encoded TRNA-His (CAU/C)), and among its related pathways/superpathways are Innate Immune System and Apoptotic Pathways in Synovial Fibroblasts. Affiliated tissues include skin and eye, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and growth/size/body region
Related ID:
ICD11:1456834066

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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15
211
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Medical Symptom

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

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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