| H00120 | |
| H番号 | H00120 |
| 名称 | 筋ジストロフィー・ジストログリカノパチー A型 |
| 概要 | 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. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | nt06013(H00120) O-Glycan biosynthesis |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | 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 |
| 文献 | PMID:25825463 著者 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 タイトル 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. 雑誌 Neurology 84:1369-78 (2015) DOI:10.1212/WNL.0000000000001416 PMID:19019316 著者 Muntoni F, Torelli S, Brockington M タイトル Muscular dystrophies due to glycosylation defects. 雑誌 Neurotherapeutics 5:627-32 (2008) DOI:10.1016/j.nurt.2008.08.005 PMID:12369018 (MDDGA1) 著者 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 タイトル Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. 雑誌 Am J Hum Genet 71:1033-43 (2002) DOI:10.1086/342975 PMID:15894594 (MDDGA2) 著者 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 タイトル POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. 雑誌 J Med Genet 42:907-12 (2005) DOI:10.1136/jmg.2005.031963 PMID:17030669 (MDDGA3) 著者 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 タイトル POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. 雑誌 Arch Neurol 63:1491-5 (2006) DOI:10.1001/archneur.63.10.1491 PMID:18177472 (MDDGA4) 著者 Cotarelo RP, Valero MC, Prados B, Pena A, Rodriguez L, Fano O, Marco JJ, Martinez-Frias ML, Cruces J タイトル Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. 雑誌 Clin Genet 73:139-45 (2008) DOI:10.1111/j.1399-0004.2007.00936.x PMID:15121789 (MDDGA5) 著者 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 タイトル Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. 雑誌 J Med Genet 41:e61 (2004) DOI:10.1136/jmg.2003.013870 PMID:17436019 (MDDGA6) 著者 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 タイトル Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. 雑誌 Hum Genet 121:685-90 (2007) DOI:10.1007/s00439-007-0362-y PMID:22522420 (MDDGA7) 著者 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 タイトル ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. 雑誌 Nat Genet 44:575-80 (2012) DOI:10.1038/ng.2252 PMID:22958903 (MDDGA8) 著者 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 タイトル Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. 雑誌 Am J Hum Genet 91:541-7 (2012) DOI:10.1016/j.ajhg.2012.07.009 PMID:24052401 (MDDGA9) 著者 Geis T, Marquard K, Rodl T, Reihle C, Schirmer S, von Kalle T, Bornemann A, Hehr U, Blankenburg M タイトル Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. 雑誌 Neurogenetics 14:205-13 (2013) DOI:10.1007/s10048-013-0374-9 PMID:23217329 (MDDGA10 MDDGA7) 著者 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 タイトル Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. 雑誌 Am J Hum Genet 91:1135-43 (2012) DOI:10.1016/j.ajhg.2012.10.009 PMID:23453667 (MDDGA11) 著者 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 タイトル Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan. 雑誌 Am J Hum Genet 92:354-65 (2013) DOI:10.1016/j.ajhg.2013.01.016 PMID:24556084 (MDDGA12) 著者 von Renesse A, Petkova MV, Lutzkendorf S, Heinemeyer J, Gill E, Hubner C, von Moers A, Stenzel W, Schuelke M タイトル POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability. 雑誌 J Med Genet 51:275-82 (2014) DOI:10.1136/jmedgenet-2013-102236 PMID:23359570 (MDDGA13) 著者 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 タイトル Missense mutations in beta-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. 雑誌 Hum Mol Genet 22:1746-54 (2013) DOI:10.1093/hmg/ddt021 PMID:23768512 (MDDGA14) 著者 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 タイトル Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of alpha-dystroglycan. 雑誌 Am J Hum Genet 93:29-41 (2013) DOI:10.1016/j.ajhg.2013.05.009 |