Congenital Myasthenic Syndrome
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
Congenital Myasthenic Syndrome | Congenital Diaphragmatic Hernia | Diffuse Palmoplantar Keratoderma | Hyperekplexia | Cenani-Lenz Syndactyly Syndrome | Polyradiculopathy | Primary Pigmented Nodular Adrenocortical Disease | Bare Lymphocyte Syndrome | Leukocyte Adhesion Deficiency Type 1 | Corneal Dystrophies, Hereditary | MELAS Syndrome | Chiari Malformation Type I | Jawad Syndrome | Sarcomatoid Carcinoma Of The Lung | Centronuclear Myopathy | Isovaleric Acidemia | Immunoproliferative Disorders | Myotonic Disorders | Leukoplakia, Oral | Hartsfield Syndrome | Kabuki Syndrome | 3-hydroxy-3-methylglutaric Aciduria | Metachondromatosis | Bloom Syndrome | Bicuspid Aortic Valve | Carcinoma, Squamous Cell | Lattice Corneal Dystrophy Type 1 | Superficial Spreading Melanoma | Gastroenteritis | Periodontitis | Gangliosidosis | Neuromyelitis Optica | X-linked Myotubular Myopathy | Combined Malonic And Methylmalonic Acidemia | Fetal Alcohol Syndrome | Acute Generalized Exanthematous Pustulosis | Tinea | Extramammary Paget's Disease | Myoclonic Epilepsy With Ragged Red Fibers | Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis | Klippel-Feil Syndrome | Metaphyseal Chondrodysplasia, Schmid Type | Chondrosarcoma | Sorsby Fundus Dystrophy | VACTERL Association | Sarcoidosis, Pulmonary | Adenomatoid Tumor | Epilepsy, Generalized | Pain | Achondrogenesis | Donnai-Barrow Syndrome | CREST Syndrome | Fetal And Neonatal Alloimmune Thrombocytopenia | Melanocytic Nevus | Pityriasis Rubra Pilaris | Usher Syndrome Type II | Potocki-Shaffer Syndrome | Mitochondrial DNA Depletion Syndrome, Myopathic Form | Birk-Barel Syndrome | Lattice Corneal Dystrophy | Panniculitis | Osteomyelitis | Non-proliferative Diabetic Retinopathy | Otosclerosis | Prune Belly Syndrome | Tendinopathy | Cheilitis | Kindler Syndrome | Fowler's Syndrome | Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy | Spastic Paraplegia Type 7 | Down Syndrome | Prader-Willi Syndrome | Bainbridge-Ropers Syndrome | Central Retinal Artery Occlusion | Motion Sickness | Transthyretin-related Amyloidosis | Tinea Versicolor | Diamond-Blackfan Anemia | Chromosome 5q Deletion Syndrome | Hyperhomocysteinemia | Giant Cell Arteritis | Guttate Psoriasis | Congenital Primary Aphakia | Stargardt Disease | Antenatal Bartter Syndrome Type 1 | Early Infantile Epileptic Encephalopathy | Autoimmune Interstitial Lung, Joint, And Kidney Disease | Jacobsen Syndrome | Infantile Spasm | Ureteropelvic Junction Obstruction | Goldenhar Syndrome | Jalili Syndrome | Ebstein Anomaly | Rothmund-Thomson Syndrome | Antisynthetase Syndrome | Neurocutaneous Syndromes | Amelogenesis Imperfecta | Congenital Stationary Night Blindness | Lipid Storage Diseases | Bulimia Nervosa | Senior-Loken Syndrome | Nemaline Myopathy 8 | Spondyloperipheral Dysplasia | Apraxia | Lymphoma, Primary Cutaneous Anaplastic Large Cell | Glaucoma, Congenital | COACH Syndrome | Dysfibrinogenemia | Celiac Disease | Progressive Osseous Heteroplasia | Melnick-Needles Syndrome | Congenital Stromal Corneal Dystrophy | Colorectal Adenoma | Whipple's Disease | Viral Meningitis | Sjogren Syndrome | Charcot-Marie-Tooth Disease, Type 1A | Barakat Syndrome | KBG Syndrome | Intestinal Obstruction | Familial Digital Arthropathy-brachydactyly | Congenital Adrenal Hyperplasia | Basan Syndrome | Ehlers-Danlos Syndrome With Progressive Kyphoscoliosis, Myopathy, And Hearing Loss | Hydronephrosis | Cousin Syndrome | Common Cold | Encephalopathy, Hepatic | N-acetylglutamate Synthase Deficiency | Granular Corneal Dystrophy Type 1 | Duchenne Muscular Dystrophy | Microcephaly, Seizures, And Developmental Delay | Chondroma | Malignant Fibrous Histiocytoma | Ganglioneuroma | Still Disease | Angioedema | Hypertension | Sarcoma, Alveolar Soft Part | Cervical Dystonia | Rubeosis Iridis | Congenital Dyserythropoietic Anemia | Personality Disorders | Cardiomyopathy, Restrictive | Barrett Esophagus | Odonto-onycho-dermal Dysplasia | Leukemia | Borderline Personality Disorder | Congenital Mirror Movements | Otitis Media | Myotonia | Cabezas Syndrome | Pemphigus | Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form | Spinocerebellar Ataxia Type 38 | Neural Tube Defect | Hypoplastic Left Heart Syndrome | Familial Retinal Arterial Macroaneurysm | Pre-eclampsia | Wolfram Syndrome 2 | Bardet-Biedl Syndrome | Pseudohypoparathyroidism Type 1B | Hyperparathyroidism | Waldenstrom Macroglobulinemia | Norrie Disease | Lymphedema-distichiasis Syndrome | Rosacea | Juvenile Myoclonic Epilepsy | Hemophilia | Usher Syndrome Type III | Heterotaxy | Metatropic Dysplasia | Congenital Ichthyosiform Erythroderma | Sleep Disorder | Colon Adenoma | Benign Familial Pemphigus | Gastric Atrophy | Choroiditis | Poretti-Boltshauser Syndrome | Rhabdomyosarcoma | DOCK8 Immunodeficiency Syndrome | Varices | Mitochondrial Encephalomyopathy | Arteriosclerosis | Psoriasis | Trismus-pseudocamptodactyly Syndrome | Charcot-Marie-Tooth Disease, Type 6 | Pulmonary Veno-occlusive Disease | Hemangioma | Von Willebrand Disease | Angioedema, Acquired | Diabetes Insipidus, Neurogenic | Hemoglobinopathies | Progressive External Ophthalmoplegia | Sialoadenitis | Antithrombin III Deficiency | Guillain-Barre Syndrome | Fucosidosis | Schuurs-Hoeijmakers Syndrome | Microcephalic Primordial Dwarfism | Acute Coronary Syndrome | Synpolydactyly | Hemorrhoids | Retinopathy Of Prematurity | Uveitis, Anterior | Spinocerebellar Ataxia Type 13 | Familial Cerebral Amyloid Angiopathy | Neutropenia | Polycythemia | Acromegaly | Mitochondrial Disease | Fukuyama Congenital Muscular Dystrophy | Hepatitis | Supravalvular Aortic Stenosis | Charcot-Marie-Tooth Disease Axonal Type 2N | Sclerocornea | Coloboma | Ichthyosis Hystrix, Curth-Macklin Type | Myocardial Infarction | Cerebrotendinous Xanthomatosis | Keratitis-ichthyosis-deafness Syndrome | Rheumatoid Arthritis | Pineoblastoma | Meckel-Gruber Syndrome | Congenital Dyserythropoietic Anemia Type 1 | Spinocerebellar Ataxia Type 40 | Retinal Detachment | 17-beta-hydroxysteroid Dehydrogenase X Deficiency | Episodic Ataxia Type 2 | Sweet Syndrome | Auriculocondylar Syndrome | Keratosis | Bietti Crystalline Dystrophy | Hepatopulmonary Syndrome | Carey-Fineman-Ziter Syndrome | Angiosarcoma | Tyrosinemia Type 2 | Angioimmunoblastic T-cell Lymphoma | Anodontia | Periventricular Nodular Heterotopia | 3-methylcrotonyl-CoA Carboxylase Deficiency | Pachyonychia Congenita | Campomelic Dysplasia | Shwachman-Bodian-Diamond Syndrome | Lipoma | 6-pyruvoyl-tetrahydropterin Synthase Deficiency | Anosmia, Congenital | Keratosis, Actinic | Hypocalcemia | Branchiootorenal Syndrome | Huntington's Disease-like 2 | Conjunctivitis | Hypermetropia | Spinocerebellar Ataxia Type 27 | Papillon-Lefevre Syndrome | Cryopyrin-associated Periodic Syndromes | Agammaglobulinemia | Allergic Contact Dermatitis | Carcinoid Syndrome | Osteomalacia | Goiter | Filariasis | Osteoporosis, Postmenopausal | Alkaptonuria | Renal Dysplasia | Smith-Lemli-Opitz Syndrome | GLUT1 Deficiency Syndrome | Early Infantile Epileptic Encephalopathy 1 | Pelizaeus-Merzbacher Disease | Papulopustular Rosacea | Adenoid Cystic Carcinoma | Botulism | Woodhouse-Sakati Syndrome | Spinocerebellar Ataxia Type 23 | Brachial Plexus Neuropathy | Primary Erythromelalgia | Autoimmune Autonomic Ganglionopathy | HUPRA Syndrome | Megaloblastic Anemia | Congenital Nephrotic Syndrome | Optic Nerve Diseases | Chudley-McCullough Syndrome | Spinocerebellar Ataxia Type 14 | Polyneuropathy | Disseminated Superficial Actinic Porokeratosis | Multicentric Carpotarsal Osteolysis Syndrome | Syncope | Ventricular Septal Defect | Plasmacytoma | Astrocytoma | Optic Neuropathy | Lymphangioleiomyomatosis | Thrombotic Microangiopathy | Intestinal Pseudo-obstruction | Craniofacial Dysostosis | Papilledema | Cold Agglutinin Disease | Waardenburg Syndrome Type 2 | Myhre Syndrome | Tremor | DiGeorge Syndrome | Anti-NMDA Receptor Encephalitis | Arthritis, Gouty | Sarcoma, Ewing | Chronic Kidney Disease | Congenital Heart Block | Genee-Wiedemann Syndrome | Pathological Gambling | Recurrent Respiratory Papillomatosis | Congestive Heart Failure | Retinal Dystrophy | Intermittent Claudication | Malonyl-CoA Decarboxylase Deficiency | Rubinstein-Taybi Syndrome | Familial Hypobetalipoproteinemia | Non-bullous Congenital Ichthyosiform Erythroderma | Fascioliasis | ACTH-independent Macronodular Adrenal Hyperplasia | Ehlers-Danlos Syndrome | Cerebral Amyloid Angiopathy | Scleritis | Allan-Herndon-Dudley Syndrome | Anti-glomerular Basement Membrane Disease | Rickets | Heroin Dependence | Moyamoya Disease | Cerebral Cavernous Malformations | Diabetes Gestational | Marshall-Smith Syndrome | Geleophysic Dysplasia | Hoyeraal-Hreidarsson Syndrome | Vertebrobasilar Insufficiency | Sezary Syndrome | Neurofibromatosis-Noonan Syndrome | Craniometaphyseal Dysplasia | Charcot-Marie-Tooth Disease Type 4E | Central Pain Syndrome | Farber Disease | Diabetes Mellitus, Transient Neonatal | Periodic Limb Movement Disorder | Lymphoma Lymphoblastic | Sclerosing Cholangitis | Leukoencephalopathy, Progressive Multifocal | Raynaud Phenomenon | Keratoacanthoma | Gastrointestinal Disorders | Walker-Warburg Syndrome | Exostoses | Anencephaly | Alexander Disease | Ornithine Transcarbamylase Deficiency | Cardiospondylocarpofacial Syndrome | Inflammatory Linear Verrucous Epidermal Nevus | Prediabetes | Thromboembolism | Harlequin Ichthyosis | Hyperparathyroidism-jaw Tumor Syndrome | Multifocal Motor Neuropathy | Preaxial Polydactyly | Galloway-Mowat Syndrome | X-linked Creatine Transporter Deficiency | Teratozoospermia | Intermittent Explosive Disorder | Granular Corneal Dystrophy | Arthritis, Psoriatic | Niemann-Pick Disease, Type C | Alpers Syndrome | Dermatomyositis | Skin Fragility-woolly Hair Syndrome | Non-small Cell Lung Cancer | Herpes Simplex Dermatitis | Klinefelter Syndrome | Dysequilibrium Syndrome | Greenberg Dysplasia | Spinocerebellar Ataxia Type 21 | Temtamy Preaxial Brachydactyly Syndrome | Plasma Cell Leukemia | LEOPARD Syndrome | Hereditary Elliptocytosis | Spondyloepiphyseal Dysplasia Tarda, X-linked | Alpha-thalassemia Myelodysplasia Syndrome | Primary Carnitine Deficiency | Chronic Neutrophilic Leukemia | Pierpont Syndrome | Carbamoyl Phosphate Synthetase I Deficiency | Schamberg Disease | Proopiomelanocortin Deficiency | Depression | Erectile Dysfunction | Schaaf-Yang Syndrome | Scleroderma | Retinoblastoma | Postpartum Depression | Iron Deficiency Anemia | Chondrodysplasia Punctata 2, X-linked Dominant | Spondylocostal Dysostosis | Distal Myopathy 2 | Ataxia-ocular Apraxia 2 | Stroke, Hemorrhagic