Microtia

Alias:
Congenital Small Ears
Hypoplasia of Ear
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Microtia, also known as congenital small ears, is related to meier-gorlin syndrome 1 and mandibulofacial dysostosis, guion-almeida type. An important gene associated with Microtia is KMT2D (Lysine Methyltransferase 2D), and among its related pathways/superpathways are RNA Polymerase I Promoter Opening and Cell Cycle, Mitotic. The drugs Racepinephrine and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include eye and bone, and related phenotypes are microtia and delayed speech and language development
Related ID:
ICD11:2005415414

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Newborn
1-9/100000
12
120
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Medical Symptom

#
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

Title
PMID
Journal
Year
IF
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