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
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of glycan/glycoprotein metabolism
   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
Related
pathway
hsa00515  Mannose type O-glycan biosynthesis
hsa00514  Other types of 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) CRPPA [HSA:729920] [KO:K21031]
(MDDGA8) POMGNT2 [HSA:84892] [KO:K18207]
(MDDGA9) DAG1 [HSA:1605] [KO:K06265]
(MDDGA10) RXYLT1 [HSA:10329] [KO:K21052]
(MDDGA11) B3GALNT2 [HSA:148789] [KO:K09654]
(MDDGA12) POMK [HSA:84197] [KO:K17547]
(MDDGA13) B4GAT1 [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 613153 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
PMID:12369018 (POMT1)
  Authors
Beltran-Valero de Bernabe D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG
  Title
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
  Journal
Am J Hum Genet 71:1033-43 (2002)
DOI:10.1086/342975
Reference
PMID:15894594 (POMT2)
  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
PMID:17030669 (POMGNT1)
  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
PMID:18177472 (FKTN)
  Authors
Cotarelo RP, Valero MC, Prados B, Pena A, Rodriguez L, Fano O, Marco JJ, Martinez-Frias ML, Cruces J
  Title
Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.
  Journal
Clin Genet 73:139-45 (2008)
DOI:10.1111/j.1399-0004.2007.00936.x
Reference
PMID:15121789 (FKRP)
  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
PMID:17436019 (LARGE)
  Authors
van Reeuwijk J, Grewal PK, Salih MA, Beltran-Valero de Bernabe D, McLaughlan JM, Michielse CB, Herrmann R, Hewitt JE, Steinbrecher A, Seidahmed MZ, Shaheed MM, Abomelha A, Brunner HG, van Bokhoven H, Voit T
  Title
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
  Journal
Hum Genet 121:685-90 (2007)
DOI:10.1007/s00439-007-0362-y
Reference
PMID:22522420 (CRPPA)
  Authors
Willer T, Lee H, Lommel M, Yoshida-Moriguchi T, de Bernabe DB, Venzke D, Cirak S, Schachter H, Vajsar J, Voit T, Muntoni F, Loder AS, Dobyns WB, Winder TL, Strahl S, Mathews KD, Nelson SF, Moore SA, Campbell KP
  Title
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
  Journal
Nat Genet 44:575-80 (2012)
DOI:10.1038/ng.2252
Reference
PMID:22958903 (POMGNT2)
  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
PMID:24052401 (DAG1)
  Authors
Geis T, Marquard K, Rodl T, Reihle C, Schirmer S, von Kalle T, Bornemann A, Hehr U, Blankenburg M
  Title
Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy.
  Journal
Neurogenetics 14:205-13 (2013)
DOI:10.1007/s10048-013-0374-9
Reference
PMID:23217329 (RXYLT1 CRPPA)
  Authors
Vuillaumier-Barrot S, Bouchet-Seraphin C, Chelbi M, Devisme L, Quentin S, Gazal S, Laquerriere A, Fallet-Bianco C, Loget P, Odent S, Carles D, Bazin A, Aziza J, Clemenson A, Guimiot F, Bonniere M, Monnot S, Bole-Feysot C, Bernard JP, Loeuillet L, Gonzales M, Socha K, Grandchamp B, Attie-Bitach T, Encha-Razavi F, Seta N
  Title
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
  Journal
Am J Hum Genet 91:1135-43 (2012)
DOI:10.1016/j.ajhg.2012.10.009
Reference
PMID:23453667 (B3GALNT2)
  Authors
Stevens E, Carss KJ, Cirak S, Foley AR, Torelli S, Willer T, Tambunan DE, Yau S, Brodd L, Sewry CA, Feng L, Haliloglu G, Orhan D, Dobyns WB, Enns GM, Manning M, Krause A, Salih MA, Walsh CA, Hurles M, Campbell KP, Manzini MC, Stemple D, Lin YY, Muntoni F
  Title
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan.
  Journal
Am J Hum Genet 92:354-65 (2013)
DOI:10.1016/j.ajhg.2013.01.016
Reference
PMID:24556084 (POMK)
  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
PMID:23359570 (B4GAT1)
  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
Reference
PMID:23768512 (GMPPB)
  Authors
Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bonnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ, Lin YY, Muntoni F
  Title
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of alpha-dystroglycan.
  Journal
Am J Hum Genet 93:29-41 (2013)
DOI:10.1016/j.ajhg.2013.05.009
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