Muenke Syndrome (MNKES)

Alias:
Muenke Nonsyndromic Coronal Craniosynostosis
Fgfr3-Associated Coronal Synostosis
Fgfr3-Related Craniosynostosis
Muenke Non-Syndromic Coronal Craniosynostosis
Fgfr3-Related Isolated Coronal Synostosis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Muenke Syndrome, also known as muenke nonsyndromic coronal craniosynostosis, is related to hypertelorism and plagiocephaly. An important gene associated with Muenke Syndrome is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are ERK Signaling and Apoptotic Pathways in Synovial Fibroblasts. Affiliated tissues include bone and skin, and related phenotypes are ptosis and hypertelorism
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
1-9/100000
15
255
82

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

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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
Journal
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IF
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