Van Der Knaap Disease
About the Disease
Megalencephalic Leukoencephalopathy with Subcortical Cysts, also known as vacuolating megalencephalic leukoencephalopathy with subcortical cysts, is related to megalencephalic leukoencephalopathy with subcortical cysts 2a and megalencephalic leukoencephalopathy with subcortical cysts 1, and has symptoms including ataxia, muscle spasticity and seizures. An important gene associated with Megalencephalic Leukoencephalopathy with Subcortical Cysts is MLC1 (Modulator Of VRAC Current 1), and among its related pathways/superpathways are Sudden infant death syndrome (SIDS) susceptibility pathways and Miscellaneous transport and binding events. Affiliated tissues include brain, cortex and temporal lobe, and related phenotypes are no effect and no effect
Common Targets / Biomarkers
G23209
Other Diseases
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
