Disease

Treacher Collins Syndrome


About the Disease
Treacher Collins Syndrome 1, also known as treacher collins syndrome, is related to acrofacial dysostosis 1, nager type 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, bone and thymus, and related phenotypes are skeletal dysplasia and open bite

Common Targets / Biomarkers
G51082 | G801 | G4288 | G6949 | G157570 | G6231 | G6234 | G90121 | G9343 | G1909 | G9533

Other Diseases

Tremor | Tricho-hepato-enteric Syndrome | Trichomegaly | Trichorhinophalangeal Syndrome | Trichothiodystrophy | Trichotillomania | Trichuriasis | Trigonocephaly | Trimethylaminuria | Triphalangeal Thumb-polysyndactyly Syndrome | Triple A Syndrome | Trismus-pseudocamptodactyly Syndrome | Tuberculosis | Tuberculous Meningitis | Tularemia | Tumoral Calcinosis | Turner's Syndrome | Twin-to-twin Transfusion Syndrome | Tylosis With Esophageal Cancer | Tyrosine Hydroxylase Deficiency | Tyrosinemia | Tyrosinemia Type 1 | Tyrosinemia Type 2 | Ulcerative Colitis | Unverricht-Lundborg Syndrome | Urea Cycle Disorder | Uremia | Uremic Pruritus | Ureteropelvic Junction Obstruction | Urethritis | Urofacial Syndrome | Urolithiasis | Urticaria | Usher Syndrome | Usher Syndrome Type II | Usher Syndrome Type IIC | Usher Syndrome Type III | Uterine Leiomyoma | Uveitis | Uveitis, Anterior | VACTERL Association | VACTERL/VATER Association | Vaginitis | Van Der Knaap Disease | Varicocele | Vascular Calcification | Vascular Cognitive Impairment | Vasculitis | Veno-occlusive Disease | Venous Insufficiency | Ventricular Septal Defect | Vertebrobasilar Insufficiency | Vertigo | Very Long-chain Acyl-CoA Dehydrogenase Deficiency | Vestibular Disease | VEXAS Syndrome | Vici Syndrome | Viral Meningitis | Vitamin A Deficiency | Vitamin B12 Deficiency | Vitamin D Deficiency | Vitamin K Deficiency | Vitelliform Macular Dystrophy | Vitiligo | Vitreoretinal Degeneration, Snowflake Type | Vitreoretinopathy, Proliferative | Vogt-Koyanagi-Harada Syndrome | Von Hippel-Lindau Disease | Von Willebrand Disease | Vulvovaginitis | Waardenburg Syndrome | Waardenburg Syndrome Type 1 | Waardenburg Syndrome Type 2 | Waardenburg Syndrome Type 2A | Waardenburg Syndrome Type 2E | Waardenburg Syndrome Type 4 | Waardenburg Syndrome Type 4A | Wagner Disease | WAGR Syndrome | Waldenstrom Macroglobulinemia | Walker-Warburg Syndrome | Warsaw Breakage Syndrome | Weill-Marchesani Syndrome | Werner's Syndrome | Whipple's Disease | Wieacker-Wolff Syndrome | Wiedemann-Steiner Syndrome | Williams Syndrome | Wilson's Disease | Wiskott-Aldrich Syndrome | Withdrawal Syndrome | Wolcott-Rallison Syndrome | Wolff-Parkinson-White Syndrome | Wolfram Syndrome | Wolfram Syndrome 2 | Wolman Disease | Woodhouse-Sakati Syndrome | X-linked Acrogigantism | X-linked Charcot-Marie-Tooth Disease | X-linked Creatine Transporter Deficiency | X-linked Myotubular Myopathy | X-linked Sideroblastic Anemia | Xeroderma Pigmentosum | Xeroderma Pigmentosum Variant Type | Yellow Fever | Zellweger Syndrome | Zimmermann-Laband Syndrome | Zollinger-Ellison Syndrome | Zygomycosis