Log In|Sign Up
ENTreacher Collins Syndrome 1 (TCS1)
Alias:
Treacher Collins Syndrome
Mandibulofacial Dysostosis
Treacher Collins-Franceschetti Syndrome
Franceschetti-Klein Syndrome
Mandibulofacial Dysostosis Without Limb Anomalies
Treacher-Collins Syndrome
Tcs1
Tcof
Mfd1
Tcs
Bilateral and Symmetric Oto-Mandibular Dysplasia
Franceschetti-Zwahlen-Klein Syndrome
Treacher Collins Syndrome, Type 1
Zygoauromandibular Dysplasia
Franceschetti Syndrome
Favorite
Treacher Collins Syndrome 1, also known as treacher collins syndrome, is related to postaxial acrofacial dysostosis and acrofacial dysostosis, cincinnati type. An important gene associated with Treacher Collins Syndrome 1 is TCOF1 (Treacle Ribosome Biogenesis Factor 1), and among its related pathways/superpathways are Pyrimidine metabolism and RNA Polymerase I Transcription Termination. The drugs Cimetidine and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include eye and bone, and related phenotypes are skeletal dysplasia and open bite
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
