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Table 3 Proposed revision of Orphanet hierarchy below ORPHA:590 (Congenital myasthenic syndrome)

From: A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

ORPHA number Typology Root Level 1 Level 2 Level 3 Level 4
ORPHA:590 Group of phenomes Congenital myasthenic syndrome     
ORPHA:98913 Group of phenomes   Postsynaptic congenital myasthenic syndromes    
NEW Group of phenomes    Congenital myasthenic syndromes with kinetic defect   
NEW Group of phenomes     Fast-channel congenital myasthenic syndromes  
NEW Disease      Fast-channel congenital myasthenic syndrome due to an acetylcholine receptor defect caused by a pathogenic variant in CHRNA1
NEW Disease      Fast-channel congenital myasthenic syndrome due to an acetylcholine receptor defect caused by a pathogenic variant in CHRNB1
NEW Disease      Fast-channel congenital myasthenic syndrome due to an acetylcholine receptor defect caused by a pathogenic variant in CHRND
NEW Disease      Fast-channel congenital myasthenic syndrome due to an acetylcholine receptor defect caused by a pathogenic variant in CHRNE
NEW Group of phenomes     Slow-channel congenital myasthenic syndromes  
NEW Disease      Slow-channel congenital myasthenic syndrome due to an acetylcholine receptor defect caused by a pathogenic variant in CHRNA1
NEW Disease      Slow-channel congenital myasthenic syndrome due to an acetylcholine receptor defect caused by a pathogenic variant in CHRNB1
NEW Disease      Slow-channel congenital myasthenic syndrome due to an acetylcholine receptor defect caused by a pathogenic variant in CHRND
NEW Disease      Slow-channel congenital myasthenic syndrome due to an acetylcholine receptor defect caused by a pathogenic variant in CHRNE
NEW Group of phenomes     Congenital myasthenic syndromes with kinetic defect due to reduced ion channel conductance  
NEW Disease      Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance caused by pathogenic variants in CHRNE
NEW Group of phenomes    Congenital myasthenic syndromes with primary acetylcholine receptor deficiency   
NEW Disease     Congenital myasthenic syndrome due to primary acetylcholine receptor deficiency caused by pathogenic variants in CHRNA1  
NEW Disease     Congenital myasthenic syndrome due to primary acetylcholine receptor deficiency caused by pathogenic variants in CHRNB1  
NEW Disease     Congenital myasthenic syndrome due to primary acetylcholine receptor deficiency caused by pathogenic variants in CHRND  
NEW Disease     Congenital myasthenic syndrome due to primary acetylcholine receptor deficiency caused by pathogenic variants in CHRNE  
NEW Group of phenomes    Congenital myasthenic syndromes due to primary or secondary defects in acetylcholine receptor clustering   
NEW Disease     Congenital myasthenic syndrome due to defects in acetylcholine receptor clustering caused by pathogenic variants in CHRND  
NEW Disease     Congenital myasthenic syndrome due to endplate rapsyn deficiency caused by pathogenic variants in RAPSN  
NEW Group of phenomes    Congenital myasthenic syndromes due to defects in endplate development and maintenance   
NEW Disease     Congenital myasthenic syndrome due to agrin deficiency caused by pathogenic variants in AGRN  
NEW Disease     Congenital myasthenic syndrome due to defects in low-density lipoprotein receptor-related protein 4 caused by pathogenic variants in LRP4  
NEW Disease     Congenital myasthenic syndrome due to defects in muscle-specific kinase caused by pathogenic variants in MUSK  
NEW Disease     Congenital myasthenic syndrome due to defects in docking protein 7 caused by pathogenic variants in DOK7  
NEW Disease    Congenital myasthenic syndrome due to plectin deficiency caused by pathogenic variants in PLEC1   
NEW Disease    Congenital myasthenic syndrome due to a sodium channel 1.4 defect caused by pathogenic variants in SCN4A   
ORPHA:98914 Group of phenomes   Presynaptic congenital myasthenic syndromes    
NEW Group of phenomes    Congenital myasthenic syndromes due to defective axonal transport   
NEW Disease     Congenital myasthenic syndrome due to a defect in Myosin 9A caused by pathogenic variants in MYO9A  
NEW Group of phenomes    Congenital myasthenic syndromes due to defective synthesis or recycling of acetylcholine   
NEW Disease     Congenital myasthenic syndrome due to endplate choline acetyltransferase deficiency caused by pathogenic variants in CHAT  
NEW Disease     Congenital myasthenic syndrome caused by pathogenic variants in PREPL that predict reduced filling of synaptic vesicles with ACh  
NEW Disease     Congenital myasthenic syndrome due to a choline transporter defect caused by pathogenic variants in SLC5A7  
NEW Disease     Congenital myasthenic syndrome due to a vesicular acetylcholine transporter defect caused by pathogenic variants in SLC18A3  
NEW Group of phenomes    Congenital myasthenic syndromes due to defective synaptic vesicles exocytosis   
NEW Disease     Congenital myasthenic syndrome due to a synaptosomal-associated protein 25 defect caused by pathogenic variants in SNAP25B  
NEW Disease     Congenital myasthenic syndrome due to a synaptotagmin defect caused by a pathogenic variant in SYT2  
NEW Disease     Congenital myasthenic syndrome due to a mammalian uncoordinated-13 protein defect caused by a pathogenic variant in UNC13A  
NEW Disease     Congenital myasthenic syndrome due to a vesicle associated membrane protein 1 defect caused by a pathogenic variant in VAMP1  
NEW Disease    Congenital myasthenic syndrome due to a mitochondrial citrate carrier defect caused by pathogenic variants in SLC25A1   
ORPHA:98915 Group of phenomes   Synaptic and basal lamina associated congenital myasthenic syndromesa    
NEW Disease     Congenital myasthenic syndrome due to endplate acetylcholinesterase deficiency caused by pathogenic variants in COLQ  
NEW Disease     Congenital myasthenic syndrome due to collagen 13 defects caused by pathogenic variants in COL13A1  
NEW Disease     Congenital myasthenic syndrome due to laminin beta 2 deficiency caused by pathogenic variants in LAMB2  
ORPHA:353327 Group of phenomes   Congenital myasthenic syndromes with glycosylation defect    
NEW Disease    Congenital myasthenic syndrome due to a defect of glycosylation caused by pathogenic variants in GFPT1   
NEW Disease    Congenital myasthenic syndrome due to a defect of glycosylation caused by pathogenic variants in DPAGT1   
NEW Disease    Congenital myasthenic syndrome due to a defect of glycosylation caused by pathogenic variants in ALG2   
NEW Disease    Congenital myasthenic syndrome due to a defect of glycosylation caused by pathogenic variants in ALG14   
NEW Disease    Congenital myasthenic syndrome due to a defect of glycosylation caused by pathogenic variants in GMPPB   
  1. aname of group updated from “synaptic congenital myasthenic syndromes”