Disease Browser
Parent Node: Genetic Diseases, Inborn (D030342) Parent Node: Neuromuscular Junction Diseases (D020511) ..Starting node Myasthenic Syndromes, Congenital (D020294) Child Nodes:
........Congenital myasthenic syndrome ib (C536089) ........Endplate Acetylcholinesterase Deficiency (C566415) ........Myasthenia, Congenital, Refractory to Acetylcholinesterase Inhibitors (C564979) ........Myasthenia, Familial Infantile, 1 (C565289) ........Myasthenia, Limb-Girdle, Autoimmune (C563552) ........Myasthenia, Limb-Girdle, with Tubular Aggregates (C566434) ........Myasthenic Syndrome due to Mutation in SCN4A (C565830) ........MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931) ........Myasthenic Syndrome, Congenital, Associated with Facial Dysmorphism (C563830) ........Myasthenic Syndrome, Congenital, Fast-Channel (C563832) ........Myasthenic Syndrome, Congenital, Ie (C563831) ........Myasthenic syndrome, congenital, postsynaptic slow-channel (C536091) ........Myasthenic syndrome, congenital, type Id (C536090) ........Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency (C563829) ........Myopathy, Congenital, Compton-North (C567261) Sister Nodes: ..Botulism (D001906) ..Lambert-Eaton Myasthenic Syndrome (D015624) ..Myasthenia Gravis (D009157) ..Myasthenic Syndromes, Congenital (D020294) UMLS . MedGen , OMIM , CTD
Term ID: 7591 Name: Myasthenic Syndromes, Congenital Definition: A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7) Alternative IDs: ParentIDs: MESH:D020511|MESH:D030342 TreeNumbers: C10.668.758.800 |C16.320.590 Synonyms: Congenital Myasthenia |Congenital Myasthenia Gravis |Congenital Myasthenic Syndrome |Congenital Myasthenic Syndromes |Congenital Myasthenic Syndromes, Postsynaptic |Congenital Myasthenic Syndromes, Presynaptic |Congenital Slow Channel Myasthenic Syndromes |Cong Slim Mappings: Genetic disease (inborn)|Nervous system disease Reference:
MedGen: D020294
MeSH: D020294 OMIM: Genes: Phenotypes Disease Causing ClinVar Variants
Myasthenic Syndromes, Congenital 
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