Disease

Charcot-Marie-Tooth Disease, Type 2


About the Disease
Charcot-Marie-Tooth Disease, Axonal, Type 2e, also known as charcot-marie-tooth disease type 2, is related to charcot-marie-tooth disease, axonal, type 2j and charcot-marie-tooth disease, axonal, type 2t. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2e is IGHMBP2 (Immunoglobulin Mu DNA Binding Protein 2), and among its related pathways/superpathways are Cytoskeletal Signaling and tRNA Aminoacylation. Affiliated tissues include skeletal muscle, heart and cortex, and related phenotypes are upper limb muscle weakness and peripheral axonal neuropathy

Common Targets / Biomarkers
G79628 | G8565 | G2617 | G16 | G80208 | G59341 | G476 | G22880 | G4359 | G3030 | G5334 | G57094 | G1959 | G80728 | G1785 | G91574 | G3035 | G90678 | G3798 | G26580 | G3508 | G26353 | G9420 | G3094 | G122945 | G182 | G4311 | G10157 | G9927 | G9422 | G8898 | G6335 | G57449 | G5579 | G3315 | G7273 | G4000 | G388795 | G3735 | G90233 | G4141 | G4508 | G7415 | G4744 | G6801 | G65055 | G93100 | G6652 | G85002 | G55526 | G56704 | G54332 | G127579 | G4747 | G23095 | G10013 | G2705 | G64780 | G50717

Other Diseases

Charcot-Marie-Tooth Disease, Type 2A | Charcot-Marie-Tooth Disease, Type 2C | CHARGE Syndrome | Cheilitis | Chitayat Syndrome | Chloridorrhea, Congenital | Cholangiocarcinoma | Cholangitis | Cholecystitis | Cholelithiasis | Cholera | Cholestasis | Cholestasis, Intrahepatic | Cholesteryl Ester Storage Disease | Chondrodysplasia Punctata | Chondrodysplasia Punctata 1, X-linked Recessive | Chondrodysplasia Punctata 2, X-linked Dominant | Chondroma | Chondromyxoid Fibroma | Chondrosarcoma | CHOPS Syndrome | Chordoid Glioma | Chordoma | Chorea | Chorea-acanthocytosis | Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress | Choriocarcinoma | Chorioretinitis | Choroideremia | Choroiditis | Christianson Syndrome | Chromosome 16p11.2 Deletion Syndrome | Chromosome 17q21.31 Deletion Syndrome | Chromosome 5q Deletion Syndrome | Chromosome 8q21.11 Deletion Syndrome | Chromosome 9q34.3 Deletion Syndrome | Chronic Beryllium Disease | Chronic Enteropathy Associated With SLCO2A1 Gene | Chronic Granulomatous Disease | Chronic Granulomatous Disease, X-linked | Chronic Idiopathic Myelofibrosis | Chronic Inflammatory Demyelinating Polyneuropathy | Chronic Kidney Disease | Chronic Leukemia | Chronic Lymphocytic Leukemia | Chronic Mucocutaneous Candidiasis | Chronic Myeloid Leukemia | Chronic Myelomonocytic Leukemia | Chronic Neutrophilic Leukemia | Chronic Periodontitis | Chronic Thromboembolic Pulmonary Hypertension | Chudley-McCullough Syndrome | Chylomicron Retention Disease | Chylothorax, Congenital | Cirrhosis | Citrullinemia | Cleidocranial Dysplasia | Clouston Hidrotic Ectodermal Dysplasia | Cluster Headache | COACH Syndrome | Cockayne Syndrome | Coenzyme Q10 Deficiency | Coffin-Lowry Syndrome | Coffin-Siris Syndrome | Cohen Syndrome | Cold Agglutinin Disease | Cold-induced Sweating Syndrome | Cole-Carpenter Syndrome | Colitis | Colitis, Collagenous | Colitis, Lymphocytic | Colitis, Microscopic | Coloboma | Colon Adenoma | Colorectal Adenoma | Coma | Combined Deficiency Of Factor V And Factor VIII | Combined Malonic And Methylmalonic Acidemia | Combined Pituitary Hormone Deficiency | Common Cold | Common Variable Immunodeficiency | Communication Disorders | Compartment Syndrome | Conduct Disorder | Cone Dystrophy | Congenital Absence Of Vas Deferens | Congenital Adrenal Hyperplasia | Congenital Adrenal Hyperplasia 1 | Congenital Afibrinogenemia | Congenital Aniridia | Congenital Bilateral Absence Of Vas Deferens | Congenital Bile Acid Synthesis Defect | Congenital Central Hypoventilation Syndrome | Congenital Diaphragmatic Hernia | Congenital Disorders Of Glycosylation | Congenital Disorders Of Glycosylation Type II | Congenital Dyserythropoietic Anemia | Congenital Dyserythropoietic Anemia Type 1 | Congenital Dyserythropoietic Anemia Type 4 | Congenital Dysfibrinogenemia | Congenital Fiber-type Disproportion Myopathy | Congenital Generalized Lipodystrophy | Congenital Heart Block | Congenital Heart Defects | Congenital Hemolytic Anemia | Congenital Hereditary Endothelial Dystrophy Type II | Congenital Hypofibrinogenemia | Congenital Ichthyosiform Erythroderma | Congenital Lipoid Adrenal Hyperplasia | Congenital Mirror Movements | Congenital Muscular Dystrophy | Congenital Myasthenic Syndrome | Congenital Myopathy | Congenital Nephrotic Syndrome | Congenital Nystagmus | Congenital Poikiloderma | Congenital Primary Aphakia | Congenital Sodium Diarrhea | Congenital Stationary Night Blindness | Congenital Stromal Corneal Dystrophy | Congenital Torticollis | Congenital Tufting Enteropathy | Congestive Heart Failure | Conjunctivitis | Conjunctivitis, Allergic | Connective Tissue Disorders | Constipation | Contact Dermatitis | Corneal Dystrophies, Hereditary | Corneal Dystrophy | Corneal Dystrophy And Perceptive Deafness | Corneal Edema | Corneal Neovascularization | Corneal Ulcer | Cornelia De Lange Syndrome | Coronary Artery Disease | Coronary Heart Disease | Coronary Restenosis | Corticobasal Syndrome | Costello Syndrome | Cousin Syndrome | Cramp Fasciculation Syndrome | Cranial Nerve Disease | Cranioectodermal Dysplasia | Craniofacial Dysostosis | Craniofrontonasal Syndrome | Craniolenticulosutural Dysplasia | Craniometaphyseal Dysplasia | Craniopharyngioma | Craniosynostosis | Creatine Deficiency Syndrome | Creatine Deficiency Syndrome Due To AGAT Deficiency | CREST Syndrome | Cri-du-chat Syndrome | Crigler-Najjar Syndrome | Crimean-Congo Hemorrhagic Fever | Cryopyrin-associated Periodic Syndromes | Cryptococcal Meningitis | Cryptorchidism | Cryptosporidiosis | Currarino Syndrome | Cushing Syndrome | Cutaneous Angiosarcoma | Cutaneous Lupus Erythematosus | Cutaneous Mastocytosis | Cutaneous T-cell Lymphoma | Cutis Laxa | Cyclic Vomiting Syndrome | Cyst | Cysticercosis | Cystinosis | Cystinuria | Cystitis | Cystitis, Interstitial | D-2-Hydroxyglutaric Aciduria | Danon Disease | Delayed Sleep Phase Syndrome | Delirium | Dementia | Dementia, Vascular | DEND Syndrome | Dengue Hemorrhagic Fever | Dengue Shock Syndrome | Dent Disease | Dental Caries | Dentinogenesis Imperfecta | Depression | Dermatitis | Dermatitis Herpetiformis | Dermatofibrosarcoma | Dermatomyositis | Desbuquois Syndrome | Desmosterolosis | Diabetes | Diabetes Gestational | Diabetes Insipidus | Diabetes Insipidus, Nephrogenic | Diabetes Insipidus, Neurogenic | Diabetes Mellitus, Transient Neonatal | Diabetes Type 1 | Diabetes Type 2 | Diabetic Encephalopathy | Diabetic Macular Edema | Diabetic Nephropathy | Diabetic Neuropathy | Diamond-Blackfan Anemia | Diarrhea | Diastrophic Dysplasia | DICER1 Syndrome | Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia | Diffuse Intrinsic Pontine Glioma | Diffuse Mesangial Sclerosis | Diffuse Palmoplantar Keratoderma | DiGeorge Syndrome | Discoid Lupus Erythematosus | Disseminated Intravascular Coagulation | Disseminated Superficial Actinic Porokeratosis | Distal Myopathy | Distal Myopathy 2 | Distal Spinal Muscular Atrophy | Diverticulitis | DNA Ligase IV Deficiency | DOCK8 Immunodeficiency Syndrome | Dominant Optic Atrophy | Donnai-Barrow Syndrome | Double Outlet Right Ventricle | Dowling-Degos Disease | Down Syndrome | DRESS Syndrome | Duane Retraction Syndrome | Dubin-Johnson Syndrome | Duchenne Muscular Dystrophy | Duodenal Atresia | Dupuytren Disease | Dwarfism | Dyggve-Melchior-Clausen Disease | Dysequilibrium Syndrome | Dysferlinopathy | Dysfibrinogenemia | Dyskeratosis Congenita | Dyslexia | Dyslipidemia | Dysmorphophobia | Dysplastic Nevus | Dysthymia | Dystonia | Dystonia Musculorum Deformans | Dystonia-parkinsonism, X-linked | Dystrophy, Cone-rod | Early Infantile Epileptic Encephalopathy | Early Infantile Epileptic Encephalopathy 1 | Early Infantile Epileptic Encephalopathy 13 | Early Infantile Epileptic Encephalopathy 28 | Early Infantile Epileptic Encephalopathy 4 | Eating Disorder | Ebstein Anomaly | Eccrine Porocarcinoma | Echinococcosis | Eclampsia | Ectodermal Dysplasia | Ectopia Lentis, Isolated, Autosomal Recessive | Ectrodactyly | Eczema | Ehlers-Danlos Syndrome | Ehlers-Danlos Syndrome With Progressive Kyphoscoliosis, Myopathy, And Hearing Loss | Eiken Syndrome | Ellis-Van Creveld Syndrome | Emery-Dreifuss Muscular Dystrophy | Empyema | Encephalitis | Encephalitis, Tick-borne | Encephalocele | Encephalopathy | Encephalopathy, Ethylmalonic | Encephalopathy, Glycine | Encephalopathy, Hepatic | Endocarditis | Endometrial Hyperplasia | Endometriosis | Endometritis | Endophthalmitis | Enhanced S-cone Syndrome | Enlarged Vestibular Aqueduct | Enterocolitis, Necrotizing | Eosinophilia | Eosinophilic Asthma | Ependymoma | Epicondylitis | Epidermal Nevus Syndrome | Epidermodysplasia Verruciformis | Epidermolysis Bullosa | Epidermolysis Bullosa Acquisita | Epidermolysis Bullosa Dystrophica | Epidermolysis Bullosa Simplex | Epidermolysis Bullosa Simplex, Dowling-Meara Type | Epidermolysis Bullosa Simplex, Generalized | Epidermolysis Bullosa Simplex, Localized | Epidermolytic Hyperkeratosis | Epidermolytic Ichthyosis, Annular | Epidermolytic Palmoplantar Keratoderma | Epilepsy | Epilepsy Of Infancy With Migrating Focal Seizures | Epilepsy, Generalized | Epiphyseal Chondrodysplasia, Miura Type | Episodic Ataxia | Episodic Ataxia Type 1 | Episodic Ataxia Type 2 | Epithelial-myoepithelial Carcinoma | Epithelioid Hemangioma | Erdheim-Chester Disease | Erectile Dysfunction | Erysipelas | Erythema Multiforme | Erythema Nodosum | Erythematotelangiectatic Rosacea | Erythrokeratodermia Variabilis | Erythromelalgia | Erythropoietic Protoporphyria | Esophageal Adenocarcinoma | Esophageal Motility Disorders | Esophagitis | Essential Fructosuria | Esthesioneuroblastoma | Evans Syndrome | Exfoliative Dermatitis | Exocrine Pancreatic Insufficiency | Exostoses | Exotropia | Extramammary Paget's Disease | Fabry's Disease | Facioscapulohumeral Muscular Dystrophy | Facioscapulohumeral Muscular Dystrophy Type 1 | Facioscapulohumeral Muscular Dystrophy Type 2 | Fahr Disease | Familial Advanced Sleep Phase Syndrome | Familial Cerebral Amyloid Angiopathy | Familial Digital Arthropathy-brachydactyly | Familial Dysautonomia | Familial Episodic Pain Syndrome | Familial Exudative Vitreoretinopathy | Familial Glucocorticoid Deficiency | Familial Hemiplegic Migraine | Familial Hyperaldosteronism | Familial Hypertrophic Cardiomyopathy | Familial Hypobetalipoproteinemia | Familial Isolated Hyperparathyroidism | Familial Mediterranean Fever | Familial Partial Lipodystrophy | Familial Pheochromocytoma-paraganglioma | Familial Retinal Arterial Macroaneurysm | Familial Thoracic Aortic Aneurysm | Fanconi Anemia | Fanconi Syndrome | Farber Disease | Fascioliasis | Fatty Aldehyde Dehydrogenase Deficiency | Feingold Syndrome | Fetal Akinesia Deformation Sequence | Fetal Alcohol Syndrome | Fetal And Neonatal Alloimmune Thrombocytopenia | FG Syndrome | Fibrillation, Atrial | Fibrodysplasia Ossificans Progressiva | Fibromuscular Dysplasia | Fibromyalgia | Fibronectin Glomerulopathy | Fibrosarcoma | Fibrosis | Filariasis | Focal Cortical Dysplasia Type 2 | Focal Dermal Hypoplasia | Focal Facial Dermal Dysplasia | Focal Segmental Glomerulosclerosis | Follicular Dendritic Cell Sarcoma | Fontaine Progeroid Syndrome | Fowler's Syndrome | Frank-ter Haar Syndrome | Frontometaphyseal Dysplasia | Frontotemporal Dementia | Frontotemporal Dementia With Amyotrophic Lateral Sclerosis | Fuchs Dystrophy | Fuchs Heterochromic Iridocyclitis | Fucosidosis | Fukuyama Congenital Muscular Dystrophy | Fundus Albipunctatus | Galactosemia | Galactosialidosis | Galloway-Mowat Syndrome | Gallstones | Ganglioglioma | Ganglioneuroma | Gangliosidosis | Gangliosidosis, GM1 | GAPO Syndrome | Gardner Syndrome | Gastric Atrophy | Gastritis | Gastritis, Atrophic | Gastroenteritis | Gastroenteritis, Eosinophilic