| H00120 | |
| H number | H00120 |
| Name | Muscular dystrophy-dystroglycanopathy type A |
| 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 | Inherited metabolic disorder |
| Network | nt06013(H00120) 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| 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 | PMID:25825463 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 PMID:19019316 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 PMID:12369018 (MDDGA1) 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 PMID:15894594 (MDDGA2) 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 PMID:17030669 (MDDGA3) 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 PMID:18177472 (MDDGA4) 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 PMID:15121789 (MDDGA5) 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 PMID:17436019 (MDDGA6) 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 PMID:22522420 (MDDGA7) 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 PMID:22958903 (MDDGA8) 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 PMID:24052401 (MDDGA9) 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 PMID:23217329 (MDDGA10 MDDGA7) 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 PMID:23453667 (MDDGA11) 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 PMID:24556084 (MDDGA12) 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 PMID:23359570 (MDDGA13) 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 PMID:23768512 (MDDGA14) 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 |