Congenital Myasthenic Syndrome

About the Disease
Congenital Myasthenic Syndrome, also known as congenital myasthenia, is related to myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency and myasthenic syndrome, congenital, 5, and has symptoms including facial paresis An important gene associated with Congenital Myasthenic Syndrome is CHRNE (Cholinergic Receptor Nicotinic Epsilon Subunit), and among its related pathways/superpathways are Transmission across Chemical Synapses and Postsynaptic nicotinic acetylcholine receptors. The drugs Racephedrine and Adrenergic Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and skeletal muscle, and related phenotypes are ptosis and dysphagia

Common Targets
MUSK | COLQ | MYO9A | ALG2 | COL13A1 | CHRND | AGRN | PLEC | SLC18A3 | CHRNG | CHRNE | GFPT1 | ALPK1 | DOK7 | DNM2 | POGZ | SCN4A | SYT2 | CHAT | CHRNB1 | LAMA1 | SLC5A7 | SLC25A1 | DPAGT1 | ALG14 | Potassium Channels (nonspecified subtype) | DOCK7 | AK9 | GMPPB | LRP4 | CHRNA1 | RAPSN | VAMP1 | LRP6 | LAMA5

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Other Diseases

Cataplexy | Autoimmune Hemolytic Anemia | Facioscapulohumeral Muscular Dystrophy Type 1 | Lymphoma, Primary Cutaneous Anaplastic Large Cell | Thalassemia, Beta | Traboulsi Syndrome | Papilloma | Lathosterolosis | Craniofacial Dysostosis | Mood Disorder | Cavitary Optic Disc Anomalies | Deafness, Dystonia, And Cerebral Hypomyelination | Glycogen Storage Disease Type 4 | Meningioma, Benign | Sleep Apnea | Epidermolytic Hyperkeratosis | Medium-chain Acyl-CoA Dehydrogenase Deficiency | Congenital Central Hypoventilation Syndrome | Bernard-Soulier Syndrome | Hydronephrosis | Hepatopulmonary Syndrome | Eating Disorder | Cockayne Syndrome | Demyelinating Diseases | Spinal Muscular Atrophy | Tularemia | Oculopharyngeal Muscular Dystrophy | Neurofibromatosis Type 1 | Adenoma, Pleomorphic | 17-beta-hydroxysteroid Dehydrogenase X Deficiency | Hyperammonemia | Alveolar Capillary Dysplasia | Fowler's Syndrome | Chronic Neutrophilic Leukemia | Sulfite Oxidase Deficiency | Autoimmune Autonomic Ganglionopathy | Danon Disease | Persistent Hyperplastic Primary Vitreous | Asthma | Leri-Weill Dyschondrosteosis | Arts Syndrome | Infertility, Male | Schindler Disease | Amyotrophic Lateral Sclerosis-parkinsonism-dementia Complex | Majeed Syndrome | Premature Ejaculation | Hereditary Elliptocytosis | Tylosis With Esophageal Cancer | Acrodermatitis | Thrombophlebitis | Neurofibromatosis | Leukemia-lymphoma, Adult T-cell | Binge Eating Disorder | Optic Neuropathy, Anterior Ischemic | Neurocutaneous Melanocytosis | Sjogren Syndrome | Retinitis Pigmentosa | Leukodystrophies | Hypophosphatemic Rickets With Hypercalciuria, Hereditary | Esotropia | Granuloma Annulare | Long-chain 3-hydroxyacyl-coenzyme A Dehydrogenase Deficiency | Paraganglioma, Carotid Body | Transient Bullous Dermolysis Of The Newborn | Hereditary Spherocytosis | Asthma, Nocturnal | Microcephalic Osteodysplastic Primordial Dwarfism, Type II | Cousin Syndrome | Adenosine Deaminase Deficiency | Gastrointestinal Disorders | Azoospermia | Fibronectin Glomerulopathy | Crohn's Disease | Amelanotic Melanoma | Erythematotelangiectatic Rosacea | Ectrodactyly | Infantile Neuroaxonal Dystrophy | B-cell Chronic Lymphocytic Leukemia | Hepatic Steatosis | Parkinsonism | Lattice Corneal Dystrophy | Fascioliasis | 3-hydroxy-3-methylglutaryl-CoA Synthase Deficiency | Nail Disorder, Nonsyndromic Congenital | Personality Disorders | Encephalopathy | Hepatitis E | Phenylketonuria II | Blepharophimosis Syndrome | Goldenhar Syndrome | Amish Infantile Epilepsy Syndrome | Polymyalgia Rheumatica | Colitis | Gastroenteritis | Erythrokeratodermia Variabilis | Periventricular Nodular Heterotopia | Glutaric Aciduria Type 1 | Syphilis | Renal-hepatic-pancreatic Dysplasia | Mitochondrial DNA Depletion Syndrome | Spitz Nevus | Pulmonary Tuberculosis | Hypopituitarism | Inflammatory Joint Disease | Dupuytren Disease | Colitis, Lymphocytic | Anuria | Paget's Disease Of The Breast | Anti-glomerular Basement Membrane Disease | TARP Syndrome | Congenital Hemolytic Anemia | Charcot-Marie-Tooth Disease Type 4 | Fucosidosis | Erdheim-Chester Disease | Genitopatellar Syndrome | Restless Legs Syndrome | Argininosuccinic Aciduria | Genee-Wiedemann Syndrome | Relapsing Polychondritis | Focal Cortical Dysplasia Type 2 | Cone Dystrophy | Glycogen Storage Disease Type 0, Muscle | Herpes Genitalis | Maternally Inherited Diabetes And Deafness | Kearns-Sayre Syndrome | Dyskeratosis Congenita | Occipital Neuralgia | Hashimoto Thyroiditis | Tardive Dyskinesia | Peroxisomal Disorder | Angiomyolipoma | Ectodermal Dysplasia | Hernia, Inguinal | Osteopathia Striata With Cranial Sclerosis | Chronic Periodontitis | Cardiomyopathy, Hypertrophic | Melanoma, Malignant | Blepharitis | Meckel-Gruber Syndrome | Primary Sclerosing Cholangitis | Spasticity | Neurofibroma | Venous Insufficiency | Lymphoma | Melanoma | Glomerulonephritis, Membranous | Oligospermia | Neurodegeneration With Brain Iron Accumulation | Wilson's Disease | Sorsby Fundus Dystrophy | Hairy Cell Leukemia | Thalassemia | Fuchs Heterochromic Iridocyclitis | Neuromyelitis Optica | Cardiofaciocutaneous Syndrome | Compartment Syndrome | Glaucomatocyclitic Crisis | Vitamin A Deficiency | Thymoma, Malignant | Toxic Epidermal Necrolysis | Meniere's Disease | Cancer, Breast | Long QT Syndrome Type 2 | Sotos Syndrome | Multiple Congenital Anomalies-hypotonia-seizures Syndrome 2 | Infantile Refsum Disease | Hypocalcemia | Pheochromocytoma | Choriocarcinoma | Erythropoietic Protoporphyria | Meningococcal Meningitis | Dysmorphophobia | Chromosome 17q21.31 Deletion Syndrome | Familial Cerebral Amyloid Angiopathy | Spondylocarpotarsal Synostosis Syndrome | Cheilitis | Peyronie's Disease | Fundus Albipunctatus | Hypertension, Portal | Alopecia Totalis | Pneumonia, Viral | T-cell Chronic Lymphocytic Leukemia | Hartnup Disease | Vaginitis | Corneal Dystrophies, Hereditary | Multiple Sclerosis, Primary Progressive | Myoclonic Atonic Epilepsy | Absence Epilepsy | Alopecia | Diamond-Blackfan Anemia | Monilethrix | Peeling Skin Syndrome, Acral Type | Focal Segmental Glomerulosclerosis | Nephroblastoma | Diabetic Macular Edema | Angiosarcoma | Aromatic L-amino Acid Decarboxylase Deficiency | Spinocerebellar Ataxia Type 15 | Osteoporosis, Postmenopausal | Schistosomiasis Mansoni | Endophthalmitis | Pneumonia, Bacterial | Low Tension Glaucoma | Methemoglobinemia Type IV | Biotinidase Deficiency | Congenital Dyserythropoietic Anemia Type 4 | Adenoma, Pituitary | Acute Lung Injury | Trachoma | Spinal Muscular Atrophy Type 3 | Chylomicron Retention Disease | Trichotillomania | Adenoma, Villous | Conn Syndrome | Mountain Sickness | Heimler Syndrome | Nicolaides-Baraitser Syndrome | Takotsubo Cardiomyopathy | Apert Syndrome | Hyperekplexia | Neurogenic Bladder | Keloid | Infantile Nephropathic Cystinosis | Inflammatory Myofibroblastic Tumor | Vascular Calcification | Obesity | Carpenter Syndrome | Cutaneous Mastocytosis | Multiple System Atrophy | Myositis | Lymphedema-distichiasis Syndrome | Blepharospasm | Non-small Cell Lung Cancer | HELLP Syndrome | Thromboembolism | Melanoma, Uveal | Lymphoma Lymphoblastic | Pantothenate Kinase-associated Neurodegeneration | Blastomycosis | Purpura | Glutaric Aciduria Type 2 | Joubert Syndrome | Hemangioma | Chordoid Glioma | Carcinoma, Squamous Cell | Temtamy Preaxial Brachydactyly Syndrome | Tinea Versicolor | Sezary Syndrome | Hemolytic Uremic Syndrome, Atypical | Alopecia Areata | Jalili Syndrome | Warsaw Breakage Syndrome | Scabies | Chitayat Syndrome | Mevalonate Kinase Deficiency | Acute Chest Syndrome | Lymphomatoid Granulomatosis | Spinocerebellar Ataxia Type 42 | Succinic Semialdehyde Dehydrogenase Deficiency | Combined Malonic And Methylmalonic Acidemia | Hypertension, Renal | Spondyloepiphyseal Dysplasia Tarda, X-linked | Benign Familial Infantile Seizures | Hyperparathyroidism, Secondary | Panic Disorder | Iron Metabolism Disorders | Lymphoma, AIDS-related | Nephrotic Syndrome Type 1 | Ameloblastoma | Pseudohermaphroditism | Retinoblastoma | Central Retinal Artery Occlusion | Osteochondroma | Systemic Lupus Erythematosus | Supravalvular Aortic Stenosis | Chronic Lymphocytic Leukemia | Chronic Myeloid Leukemia | Pseudoexfoliation Syndrome | Multiple Sclerosis, Relapsing-remitting | Whipple's Disease | Dystonia Musculorum Deformans | Riboflavin Transporter Deficiency Neuronopathy | Chondrodysplasia Punctata | Oguchi Disease-2 | Erythema Multiforme | Orotic Aciduria | Hepatitis C, Chronic | Superficial Spreading Melanoma | Congenital Afibrinogenemia | Hydrocephalus | Pemphigus | Coffin-Lowry Syndrome | Protein C Deficiency | Meesmann Corneal Dystrophy | Bursitis | Lymphangioleiomyomatosis | Optic Nerve Diseases | Porphyria, Acute Intermittent | Osteonecrosis Of The Jaw | Follicular Dendritic Cell Sarcoma | Neurofibromatosis Type 2 | Hereditary Sensory And Autonomic Neuropathy | Nephrocalcinosis | Menetrier Disease | Congenital Aniridia | Epidermolysis Bullosa Simplex, Generalized | Prolidase Deficiency | Cutis Laxa | Renal Hypouricemia | Adenosine Deaminase 2 Deficiency | Rhinitis | Spondyloarthritis | Microvillus Inclusion Disease | Congenital Myopathy | Palmoplantar Keratoderma | Restrictive Dermopathy | Dysferlinopathy | Pseudohypoaldosteronism | Waardenburg Syndrome Type 2E | Mucolipidosis Type II | Hypoplastic Left Heart Syndrome | Angioedema | McKusick Type Metaphyseal Chondrodysplasia | Fukuyama Congenital Muscular Dystrophy | Urea Cycle Disorder | Otopalatodigital Syndrome Type 2 | Light Chain Amyloidosis | Molybdenum Cofactor Deficiency | Polymyositis | Schizencephaly | Cancer, Brain | Metabolic Syndrome | Epidermolysis Bullosa Dystrophica | Glycogen Storage Disease Type 9 | Vasculitis | Cryptococcal Meningitis | 3-M Syndrome | Epidermolysis Bullosa Acquisita | Neuroma | Blue Rubber Bleb Nevus Syndrome | Placenta Previa | Hypersensitivity Pneumonitis | Hyperuricemic Nephropathy, Familial Juvenile | Glaucoma, Congenital | Best Macular Dystrophy | Episodic Ataxia | Exocrine Pancreatic Insufficiency | Hypotrichosis, Congenital, With Juvenile Macular Dystrophy | Cellulitis | Basan Syndrome | Imerslund-Grasbeck Syndrome | Heart Septal Defects | Glycogen Storage Disease Type 6 | Situs Inversus | Rotor Syndrome | Spina Bifida | Basal Ganglia Disease | Papilledema | Sickle Cell Anemia | Hyperoxaluria | Cholecystitis | Hypervalinemia | Facioscapulohumeral Muscular Dystrophy Type 2 | Rhabdomyosarcoma | Hypertrophy | Desmosterolosis | Hypermethioninemia | Tietze Syndrome | Ehlers-Danlos Syndrome | Polycystic Kidney, Autosomal Recessive | Proopiomelanocortin Deficiency | Creatine Deficiency Syndrome Due To AGAT Deficiency | Infectious Diarrhea | Tendinitis | Communication Disorders | Infantile Spasm | Nephrosclerosis | Lewy Body Dementia | Plasma Cell Leukemia | LRBA Deficiency | Zollinger-Ellison Syndrome | CHOPS Syndrome | Metachromatic Leukodystrophy | Hepatitis, Chronic | Eccrine Porocarcinoma | Pseudohypoparathyroidism Type 1B | Currarino Syndrome | Oral Lichen Planus | Pathological Gambling | Cancer, Bladder | Anovulation | Oligodendroglioma | Encephalitis | Barrett Esophagus | Cerebellofaciodental Syndrome | Hypercalcemia | Heterotaxy | FG Syndrome | Spondylocostal Dysostosis | Aldosterone Synthase Deficiency