KEGG   DISEASE: Congenital myasthenic syndromeHelp
Entry
H00770                      Disease                                

Name
Congenital myasthenic syndrome
Description
Congenital myasthenic syndromes (CMSs) are a heterogenous group of genetic disorders caused by mutations in several proteins that compose the neuromuscular junction (NMJ) apparatus on which synaptic formation and function depend. The majority are recessively inherited. The disorders of the NMJ cause weakness and fatigue.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H00770  Congenital myasthenic syndrome
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G70-G73  Diseases of myoneural junction and muscle
   G70  Myasthenia gravis and other myoneural disorders
    H00770  Congenital myasthenic syndrome
BRITE hierarchy
Pathway
Neuroactive ligand-receptor interaction
Glycerophospholipid metabolism
Cholinergic synapse
ECM-receptor interaction
Amino sugar and nucleotide sugar metabolism
Gene
CHRNE [HSA:1145] [KO:K04817]
CHRNA1 [HSA:1134] [KO:K04803]
CHRNB1 [HSA:1140] [KO:K04812]
CHRND [HSA:1144] [KO:K04816]
COLQ [HSA:8292]
CHAT [HSA:1103] [KO:K00623]
RAPSN [HSA:5913]
SCN4A [HSA:6329] [KO:K04837]
MUSK [HSA:4593] [KO:K05129]
DOK7 [HSA:285489]
AGRN [HSA:375790] [KO:K06254]
GFPT1 [HSA:2673] [KO:K00820]
Drug
Fluoxetine [DG:DG00942]
Quinidine sulfate [DG:DG00192]
Ephedrine [DG:DG00227]
Salbutamol [DR:D02147 D00683]
Other DBs
Reference
PMID:19593127 (description)
  Authors
Argov Z
  Title
Management of myasthenic conditions: nonimmune issues.
  Journal
Curr Opin Neurol 22:493-7 (2009)
Reference
PMID:20547629 (description, gene, drug)
  Authors
Spillane J, Beeson DJ, Kullmann DM
  Title
Myasthenia and related disorders of the neuromuscular junction.
  Journal
J Neurol Neurosurg Psychiatry 81:850-7 (2010)
Reference
PMID:21310273 (gene)
  Authors
Senderek J, Muller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hubner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmuller H
  Title
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
  Journal
Am J Hum Genet 88:162-72 (2011)

» Japanese version

DBGET integrated database retrieval system