KEGG   DISEASE: Muscular dystrophy-dystroglycanopathy type A
Entry
H00120                      Disease                                

Name
Muscular dystrophy-dystroglycanopathy type A
  Subgroup
Walker-Warburg syndrome (WWS)
Muscle-eye-brain disease (MEB)
Fukuyama congenital muscular dystrophy (FCMD) [DS:H01957]
  Supergrp
Congenital muscular dystrophies (CMD/MDC) [DS:H00590]
Muscular dystrophy-dystroglycanopathy [DS:H02307]
Description
Muscular dystrophies due to reduced glycosylation of alpha-dystroglycan have emerged as a common group of conditions, now referred to as dystroglycanopathies. The phenotypic severity of dystroglycanopathy patients is extremely variable. At the most severe end of the clinical spectrum are Walker-Warburg syndrome (WWS), Muscle-eye-brain disease (MEB), and Fukuyama congenital muscular dystrophy (FCMD). These are termed muscular dystrophy-dystroglycanopathy type A (MDDGA), and characterized by congenital muscular dystrophy with severe structural brain and eye abnormalities, which in WWS results in early infantile death.
Category
Congenital disorder of metabolism; Congenital malformation
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H00120  Muscular dystrophy-dystroglycanopathy type A
 Congenital disorders of metabolism
  Congenital disorders of glycan/glycoprotein metabolism
   H00120  Muscular dystrophy-dystroglycanopathy type A
 Congenital malformations
  Congenital malformations of the nervous system
   H00120  Muscular dystrophy-dystroglycanopathy type A
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C70  Muscular dystrophy
     H00120  Muscular dystrophy-dystroglycanopathy type A
Pathway
hsa00515  Mannose type O-glycan biosynthesis
Network
  Element
N00628  LARGE1 deficiency in mannose type O-glycan biosynthesis
N00629  B4GAT1 deficiency in mannose type O-glycan biosynthesis
N00630  TMEM5 deficiency in mannose type O-glycan biosynthesis
N00633  POMK deficiency in mannose type O-glycan biosynthesis
N00634  ISPD deficiency in mannose type O-glycan biosynthesis
N00635  B3GALNT2 deficiency in mannose type O-glycan biosynthesis
N00636  POMGNT2 deficiency in mannose type O-glycan biosynthesis
Gene
(MDDGA1) POMT1 [HSA:10585] [KO:K00728]
(MDDGA2) POMT2 [HSA:29954] [KO:K00728]
(MDDGA3) POMGNT1 [HSA:55624] [KO:K09666]
(MDDGA4) FKTN [HSA:2218] [KO:K19872]
(MDDGA5) FKRP [HSA:79147] [KO:K19873]
(MDDGA6) LARGE [HSA:9215] [KO:K09668]
(MDDGA7) ISPD [HSA:729920] [KO:K21031]
(MDDGA8) GTDC2 [HSA:84892] [KO:K18207]
(MDDGA9) DAG1 [HSA:1605] [KO:K06265]
(MDDGA10) TMEM5 [HSA:10329] [KO:K21052]
(MDDGA11) B3GALNT2 [HSA:148789] [KO:K09654]
(MDDGA12) SGK196 [HSA:84197] [KO:K17547]
(MDDGA13) B3GNT1 [HSA:11041] [KO:K21032]
(MDDGA14) GMPPB [HSA:29925] [KO:K00966]
Other DBs
ICD-11: 8C70.6
ICD-10: Q04.3
MeSH: D058494
OMIM: 236670 613150 253280 253800 606612 613154 614643 614830 616538 615041 615181 615249 615287 615350
Reference
  Authors
Kang PB, Morrison L, Iannaccone ST, Graham RJ, Bonnemann CG, Rutkowski A, Hornyak J, Wang CH, North K, Oskoui M, Getchius TS, Cox JA, Hagen EE, Gronseth G, Griggs RC
  Title
Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the  American Association of Neuromuscular & Electrodiagnostic Medicine.
  Journal
Neurology 84:1369-78 (2015)
DOI:10.1212/WNL.0000000000001416
Reference
  Authors
Muntoni F, Torelli S, Brockington M
  Title
Muscular dystrophies due to glycosylation defects.
  Journal
Neurotherapeutics 5:627-32 (2008)
DOI:10.1016/j.nurt.2008.08.005
Reference
  Authors
Biancheri R, Bertini E, Falace A, Pedemonte M, Rossi A, D'Amico A, Scapolan S, Bergamino L, Petrini S, Cassandrini D, Broda P, Manfredi M, Zara F, Santorelli FM, Minetti C, Bruno C
  Title
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
  Journal
Arch Neurol 63:1491-5 (2006)
DOI:10.1001/archneur.63.10.1491
Reference
  Authors
Beltran-Valero de Bernabe D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F
  Title
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
  Journal
J Med Genet 41:e61 (2004)
DOI:10.1136/jmg.2003.013870
Reference
  Authors
van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabe D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H
  Title
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
  Journal
J Med Genet 42:907-12 (2005)
DOI:10.1136/jmg.2005.031963
Reference
  Authors
Sparks SE, Escolar DM
  Title
Congenital muscular dystrophies.
  Journal
Handb Clin Neurol 101:47-79 (2011)
DOI:10.1016/B978-0-08-045031-5.00004-9
Reference
  Authors
Guglieri M, Straub V, Bushby K, Lochmuller H
  Title
Limb-girdle muscular dystrophies.
  Journal
Curr Opin Neurol 21:576-84 (2008)
DOI:10.1097/WCO.0b013e32830efdc2
Reference
  Authors
Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, Rodriguez J, Gupta VA, Al-Qudah AK, Eyaid WM, Friedman JM, Salih MA, Clark R, Moroni I, Mora M, Beggs AH, Gabriel SB, Walsh CA
  Title
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
  Journal
Am J Hum Genet 91:541-7 (2012)
DOI:10.1016/j.ajhg.2012.07.009
Reference
  Authors
von Renesse A, Petkova MV, Lutzkendorf S, Heinemeyer J, Gill E, Hubner C, von Moers A, Stenzel W, Schuelke M
  Title
POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.
  Journal
J Med Genet 51:275-82 (2014)
DOI:10.1136/jmedgenet-2013-102236
Reference
  Authors
Buysse K, Riemersma M, Powell G, van Reeuwijk J, Chitayat D, Roscioli T, Kamsteeg EJ, van den Elzen C, van Beusekom E, Blaser S, Babul-Hirji R, Halliday W, Wright GJ, Stemple DL, Lin YY, Lefeber DJ, van Bokhoven H
  Title
Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.
  Journal
Hum Mol Genet 22:1746-54 (2013)
DOI:10.1093/hmg/ddt021
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