GenTIGSA Gene Database on Rare Genetic Disorders
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Treacher Collins Syndrome 1  
Disease Aliases (39)

Bilateral and symmetric oto-mandibular dysplasia

Collins syndrome, treacher

Dysostoses, mandibulofacial

Dysostoses, mandibulofacial (mfd1)

Dysostosis, mandibulofacial

Dysostosis, mandibulofacial (mfd1)

Franceschetti klein syndrome

Franceschetti zwahlen klein syndrome

Franceschetti syndrome

Franceschetti-klein syndrome

Franceschetti-zwahlen-klein syndrome

Franceschetti-zwahlen-klein syndromes

Mandibulofacial dysostosis

Mfd1

Mandibulofacial dysostoses

Mandibulofacial dysostoses (mfd1)

Mandibulofacial dysostosis (mfd1)

Mandibulofacial dysostosis without limb anomalies

Syndrome, franceschetti-zwahlen-klein

Syndrome, treacher collins

Syndrome, treacher collins-franceschetti

Syndromes, franceschetti-zwahlen-klein

Syndromes, treacher collins-franceschetti

Tcof

Tcof1 treacher-collins syndrome

Tcof1-related treacher collins syndrome

Tcs

Tcs1

Treacher collins syndrome 1

Treacher collins syndrome 1; tcs1

Treacher collins-franceschetti syndrome

Treacher collins franceschetti syndrome

Treacher collins syndrome type 1

Treacher collins-franceschetti syndromes

Treacher-collins syndrome

Treacher-collins syndrome 1

Treacher-collins syndrome caused by mutation in tcof1

Zygoauromandibular dysplasia

Associated Genes (4)
 

NCBI-RefSeq:  TCOF1   (Treacle ribosome biogenesis factor 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  POLR1D   (RNA polymerase I and III subunit D)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  POLR1C   (RNA polymerase I and III subunit C)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  POLR1B   (RNA polymerase I subunit B)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Treacher Collins syndrome 1 OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations