Disease

Tyrosine Hydroxylase Deficiency


About the Disease
Segawa Syndrome, Autosomal Recessive, also known as tyrosine hydroxylase deficiency, is related to dystonia, dopa-responsive and dystonia, and has symptoms including muscle rigidity, tremor and abnormality of extrapyramidal motor function. An important gene associated with Segawa Syndrome, Autosomal Recessive is TH (Tyrosine Hydroxylase), and among its related pathways/superpathways is Metabolism. Affiliated tissues include eye, brain and thyroid, and related phenotypes are ptosis and constipation

Common Targets / Biomarkers
G10352 | G7054

Other Diseases

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