Tricho-hepato-enteric Syndrome
Tricho-hepato-enteric Syndrome
About the Disease
Trichohepatoenteric Syndrome 1, also known as trichohepatoenteric syndrome, is related to trichohepatoenteric syndrome 2 and congenital diarrhea, and has symptoms including infantile diarrhea and thin, sparse hair. An important gene associated with Trichohepatoenteric Syndrome 1 is SKIC3 (SKI3 Subunit Of Superkiller Complex), and among its related pathways/superpathways are Processing of Capped Intron-Containing Pre-mRNA and rRNA processing in the nucleus and cytosol. Affiliated tissues include liver, skin and heart, and related phenotypes are abnormal facial shape and immunodeficiency
Common Targets / Biomarkers
SKIC3
Other Diseases
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
