Takenouchi-Kosaki Syndrome
About the Disease
Takenouchi-Kosaki Syndrome, also known as macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, is related to alacrima, achalasia, and mental retardation syndrome and sensorineural hearing loss. An important gene associated with Takenouchi-Kosaki Syndrome is CDC42 (Cell Division Cycle 42). Affiliated tissues include skin, brain and heart, and related phenotypes are abnormal facial shape and brain imaging abnormality
Common Targets / Biomarkers
G998
Other Diseases
Takotsubo Cardiomyopathy | Tangier Disease | Tardive Dyskinesia | TARP Syndrome | Tatton-Brown-Rahman Syndrome | Tay-Sachs Disease | Temporal Lobe Epilepsy | Temtamy Preaxial Brachydactyly Syndrome | Tendinitis | Tendinopathy | Tenosynovial Giant Cell Tumor | Teratozoospermia | Tetanus | Thalassemia | Thalassemia, Beta | Thanatophoric Dysplasia | Thanatophoric Dysplasia Type 1 | Thin Basement Membrane Disease | Thrombasthenia | Thrombocythemia, Essential | Thrombocytopenia | Thromboembolism | Thrombophilia | Thrombophlebitis | Thrombosis | Thrombotic Microangiopathy | Thymoma, Malignant | Thyroid Dysgenesis | Thyroid Dyshormonogenesis | Thyroid Hormone Resistance | Thyroiditis | Thyroiditis, Autoimmune | Thyrotoxic Periodic Paralysis | Tibial Muscular Dystrophy | Tic Disorder | Tietze Syndrome | Tinea | Tinea Versicolor | Tonsillitis | Torticollis | Toxic Epidermal Necrolysis | Toxoplasmosis | Traboulsi Syndrome | Tracheal Disorders | Trachoma | Transcobalamin Deficiency | Transient Bullous Dermolysis Of The Newborn | Transthyretin-related Amyloidosis | Treacher Collins Syndrome | 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
