 | DISEASE: Muscular dystrophy-dystroglycanopathy type B | Help |
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| Name | Muscular dystrophy-dystroglycanopathy type B |
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| Subgroup | Congenital muscular dystrophy type 1C (MDC1C) [DS:H01961]Congenital muscular dystrophy type 1D (MDC1D) [DS:H01962] |
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| Supergrp | Congenital muscular dystrophies (CMD/MDC) [DS:H00590]Muscular dystrophy-dystroglycanopathy [DS:H02307] |
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| 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. The most severe clinical spectrum (type A, H00120) is characterized by congenital muscular dystrophy with severe structural brain and eye abnormalities. Conversely, the mildest clinical spectrum (type C, H01959) is with limb-girdle muscular dystrophy. Muscular dystrophy-dystroglycanopathy type B (MDDGB) is an intermediate phenotype between type A and C. MDDGB is characterized by early onset of muscle weakness, mental retardation, and mild brain anomalies. |
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| Category | Inherited metabolic disorder |
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| Brite | 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 H01960 Muscular dystrophy-dystroglycanopathy type B Pathway-based classification of diseases [BR:br08402] Glycan/glycoprotein metabolism nt06013 O-Glycan biosynthesis H01960 Muscular dystrophy-dystroglycanopathy type B BRITE hierarchy |
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| Pathway | | hsa00515 | Mannose type O-glycan biosynthesis |
| hsa00514 | Other types of O-glycan biosynthesis |
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| Network | nt06013 O-Glycan biosynthesis |
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| Gene | (MDDGB1) POMT1 [HSA:10585] [KO:K00728] (MDDGB2) POMT2 [HSA:29954] [KO:K00728] (MDDGB3) POMGNT1 [HSA:55624] [KO:K09666] (MDDGB4) FKTN [HSA:2218] [KO:K19872] (MDDGB5/MDC1C) FKRP [HSA:79147] [KO:K19873] (MDDGB6/MDC1D) LARGE1 [HSA:9215] [KO:K09668] (MDDGB14) GMPPB [HSA:29925] [KO:K00966] (MDDGB15) DPM3 [HSA:54344] [KO:K09659] |
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| Other DBs | | OMIM: | 613155 613156 613151 613152 606612 608840 615351 618992 |
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| Reference | PMID:17878207 |
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| Authors | Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F |
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| Title | Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. |
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| Journal | Brain 130:2725-35 (2007)DOI:10.1093/brain/awm212 |
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| Reference | PMID:19901254 |
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| Authors | Messina S, Tortorella G, Concolino D, Spano M, D'Amico A, Bruno C, Santorelli FM, Mercuri E, Bertini E |
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| Title | Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy. |
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| Journal | Neurology 73:1599-601 (2009)DOI:10.1212/WNL.0b013e3181c0d47a |
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| Reference | PMID:16575835 (MDDGB1) |
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| Authors | van Reeuwijk J, Maugenre S, van den Elzen C, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, van Bokhoven H |
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| Title | The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. |
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| Journal | Hum Mutat 27:453-9 (2006)DOI:10.1002/humu.20313 |
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| Reference | PMID:17634419 (MDDGB2) |
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| Authors | Yanagisawa A, Bouchet C, Van den Bergh PY, Cuisset JM, Viollet L, Leturcq F, Romero NB, Quijano-Roy S, Fardeau M, Seta N, Guicheney P |
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| Title | New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. |
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| Journal | Neurology 69:1254-60 (2007)DOI:10.1212/01.wnl.0000268489.60809.c4 |
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| Reference | PMID:19067344 (MDDGB3) |
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| Authors | Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F |
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| Title | Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. |
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| Journal | Ann Neurol 64:573-82 (2008)DOI:10.1002/ana.21482 |
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| Reference | PMID:19299310 (MDDGB4) |
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| Authors | Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E |
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| Title | Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. |
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| Journal | Neurology 72:1802-9 (2009)DOI:10.1212/01.wnl.0000346518.68110.60 |
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| Reference | PMID:11592034 (MDDGB5/MDC1C) |
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| Authors | Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F |
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| Title | Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. |
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| Journal | Am J Hum Genet 69:1198-209 (2001)DOI:10.1086/324412 |
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| Reference | PMID:12966029 (MDDGB6/MDC1D) |
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| Authors | Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F |
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| Title | Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. |
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| Journal | Hum Mol Genet 12:2853-61 (2003)DOI:10.1093/hmg/ddg307 |
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| Reference | PMID:23768512 (MDDGB14) |
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| 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 |
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| Title | Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of alpha-dystroglycan. |
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| Journal | Am J Hum Genet 93:29-41 (2013)DOI:10.1016/j.ajhg.2013.05.009 |
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| Reference | PMID:31469168 (MDDGB15) |
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| Authors | Fu J, Ma M, Song J, Pang M, Yang L, Li G, Zhang J |
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| Title | Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement. |
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| Journal | Clin Genet 96:590-591 (2019)DOI:10.1111/cge.13634 |
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