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
GJB2 | PMP22 | GJB1

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Asperger Syndrome | Obesity, Morbid | Alzheimer Disease, Late Onset | McKusick Type Metaphyseal Chondrodysplasia | Chronic Neutrophilic Leukemia | Chronic Granulomatous Disease, X-linked | Brooke-Spiegler Syndrome | Microcephalic Primordial Dwarfism | Brachial Plexus Neuropathy | Hypertension, Essential | Pulmonary Sclerosing Hemangioma | Globozoospermia | Micro Syndrome | Combined Deficiency Of Factor V And Factor VIII | Arterial Tortuosity Syndrome | Acne Vulgaris | Myhre Syndrome | Warsaw Breakage Syndrome | HIBCH Deficiency | Cancer, Bladder | Pontocerebellar Hypoplasia Type 2 | Cutaneous T-cell Lymphoma | Congenital Hereditary Endothelial Dystrophy Type I | Tatton-Brown-Rahman Syndrome | Coma | Rhinitis | Scapuloperoneal Myopathy, X-linked Dominant | Myelitis, Transverse | Acute Leukemia | Persistent Fetal Circulation | Becker Muscular Dystrophy | LRBA Deficiency | Methylmalonic Aciduria And Homocystinuria, CblC Type | Encephalopathy, Ethylmalonic | Stroke | Chondroma | 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