Disease

Vitreoretinal Degeneration, Snowflake Type


About the Disease
Vitreoretinal Degeneration, Snowflake Type, also known as snowflake vitreoretinal degeneration, is related to retinal detachment and intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. An important gene associated with Vitreoretinal Degeneration, Snowflake Type is KCNJ13 (Potassium Inwardly Rectifying Channel Subfamily J Member 13), and among its related pathways/superpathways are Transmission across Chemical Synapses and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include eye and retina, and related phenotypes are optically empty vitreous and cataract

Common Targets / Biomarkers
G3769

Other Diseases

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