KEGG   DISEASE: Congenital myasthenic syndromeHelp
H00770                      Disease                                

Congenital myasthenic syndrome
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.
Nervous system disease
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
hsa04080  Neuroactive ligand-receptor interaction
hsa00564  Glycerophospholipid metabolism
hsa04725  Cholinergic synapse
hsa04512  ECM-receptor interaction
hsa00520  Amino sugar and nucleotide sugar metabolism
(CMS1A/1B) CHRNA1 [HSA:1134] [KO:K04803]
(CMS2A/2C) CHRNB1 [HSA:1140] [KO:K04812]
(CMS3A/3B/3C) CHRND [HSA:1144] [KO:K04816]
(CMS4A/4B/4C) CHRNE [HSA:1145] [KO:K04817]
(CMS5) COLQ [HSA:8292]
(CMS6) CHAT [HSA:1103] [KO:K00623]
(CMS7) SYT2 [HSA:127833] [KO:K19902]
(CMS8) AGRN [HSA:375790] [KO:K06254]
(CMS9) MUSK [HSA:4593] [KO:K05129]
(CMS10) DOK7 [HSA:285489]
(CMS11) RAPSN [HSA:5913]
(CMS12) GFPT1 [HSA:2673] [KO:K00820]
(CMS13) DPAGT1 [HSA:1798] [KO:K01001]
(CMS14) ALG2 [HSA:85365] [KO:K03843]
(CMS15) ALG14 [HSA:199857] [KO:K07441]
(CMS16) SCN4A [HSA:6329] [KO:K04837]
(CMS17) LRP4 [HSA:4038] [KO:K20051]
(CMS18) SNAP25 [HSA:6616] [KO:K18211]
(CMS19) COL13A1 [HSA:1305] [KO:K16617]
(CMS20) SLC5A7 [HSA:60482] [KO:K14387]
(CMS21) SLC18A3 [HSA:6572] [KO:K14636]
Other DBs
ICD-10: G70.2
MeSH: D020294
OMIM: 601462 608930 616313 616314 616321 616322 616323 605809 616324 608931 603034 254210 616040 615120 616325 254300 616326 610542 614750 616228 616227 614198 616304 616330 616720 617143 617239
PMID:19593127 (description)
Argov Z
Management of myasthenic conditions: nonimmune issues.
Curr Opin Neurol 22:493-7 (2009)
PMID:20547629 (description, gene, drug)
Spillane J, Beeson DJ, Kullmann DM
Myasthenia and related disorders of the neuromuscular junction.
J Neurol Neurosurg Psychiatry 81:850-7 (2010)
PMID:21310273 (gene)
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
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Am J Hum Genet 88:162-72 (2011)

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