Disease

X-linked Charcot-Marie-Tooth Disease


About the Disease
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1, also known as charcot-marie-tooth disease x-linked dominant 1, is related to charcot-marie-tooth disease, x-linked recessive, 2 and charcot-marie-tooth disease, x-linked recessive, 5, and has symptoms including numbness, tremor and paraparesis. An important gene associated with Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 is GJB1 (Gap Junction Protein Beta 1), and among its related pathways/superpathways are Neural crest differentiation and tRNA Aminoacylation. Affiliated tissues include smooth muscle, spinal cord and brain, and related phenotypes are areflexia and sensory neuropathy

Common Targets / Biomarkers
G2706 | G5376 | G2705

Other Diseases

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