KEGG   DISEASE: Muscular dystrophy-dystroglycanopathy type A
H00120                      Disease                                

Muscular dystrophy-dystroglycanopathy type A
Walker-Warburg syndrome (WWS)
Muscle-eye-brain disease (MEB)
Fukuyama congenital muscular dystrophy (FCMD) [DS:H01957]
Congenital muscular dystrophies (CMD/MDC) [DS:H00590]
Muscular dystrophy-dystroglycanopathy [DS:H02307]
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.
Congenital disorder of metabolism; Congenital malformation
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
hsa00515  Mannose type O-glycan biosynthesis
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
(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
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
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.
Neurology 84:1369-78 (2015)
Muntoni F, Torelli S, Brockington M
Muscular dystrophies due to glycosylation defects.
Neurotherapeutics 5:627-32 (2008)
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
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
Arch Neurol 63:1491-5 (2006)
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
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
J Med Genet 41:e61 (2004)
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
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
J Med Genet 42:907-12 (2005)
Sparks SE, Escolar DM
Congenital muscular dystrophies.
Handb Clin Neurol 101:47-79 (2011)
Guglieri M, Straub V, Bushby K, Lochmuller H
Limb-girdle muscular dystrophies.
Curr Opin Neurol 21:576-84 (2008)
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
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
Am J Hum Genet 91:541-7 (2012)
von Renesse A, Petkova MV, Lutzkendorf S, Heinemeyer J, Gill E, Hubner C, von Moers A, Stenzel W, Schuelke M
POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.
J Med Genet 51:275-82 (2014)
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
Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.
Hum Mol Genet 22:1746-54 (2013)

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