KEGG   DISEASE: Muscular dystrophy-dystroglycanopathyHelp
Entry
H02307                      Disease                                

Name
Muscular dystrophy-dystroglycanopathy
  Subgroup
Muscular dystrophy-dystroglycanopathy type A [DS:H00120]
Muscular dystrophy-dystroglycanopathy type B [DS:H01960]
Muscular dystrophy-dystroglycanopathy type C [DS:H01959]
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) are characterized by congenital muscular dystrophy with severe structural brain and eye abnormalities. Conversely, mildest clinical spectrum (type C) are with limb-girdle muscular dystrophy. Type B is intermediate phenotypes between type A and C.
Category
Congenital disorder of metabolism
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
     H02307  Muscular dystrophy-dystroglycanopathy
BRITE hierarchy
Pathway
hsa00515  Mannose type O-glycan biosynthesis
Network
nt06013  O-Glycan biosynthesis
  Element
N00631  FKRP deficiency in mannose type O-glycan biosynthesis
N00632  FKTN deficiency in mannose type O-glycan biosynthesis
N00637  POMT1 deficiency in mannose type O-glycan biosynthesis
N00638  POMT2 deficiency in mannose type O-glycan biosynthesis
N00639  POMGNT1 deficiency in mannose type O-glycan biosynthesis
Gene
POMT1 [HSA:10585] [KO:K00728]
POMT2 [HSA:29954] [KO:K00728]
POMGNT1 [HSA:55624] [KO:K09666]
FKTN [HSA:2218] [KO:K19872]
FKRP [HSA:79147] [KO:K19873]
LARGE [HSA:9215] [KO:K09668]
ISPD [HSA:729920] [KO:K21031]
GTDC2 [HSA:84892] [KO:K18207]
DAG1 [HSA:1605] [KO:K06265]
TMEM5 [HSA:10329] [KO:K21052]
B3GALNT2 [HSA:148789] [KO:K09654]
POMK [HSA:84197] [KO:K17547]
B3GNT1 [HSA:11041] [KO:K21032]
GMPPB [HSA:29925] [KO:K00966]
Other DBs
ICD-11: 8C70.6
ICD-10: G71.2
MeSH: D58494
OMIM: 236670 613155 609308
Reference
  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
  Title
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
  Journal
Brain 130:2725-35 (2007)
DOI:10.1093/brain/awm212
Reference
  Authors
Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloglu H
  Title
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
  Journal
Neuromuscul Disord 15:271-5 (2005)
DOI:10.1016/j.nmd.2005.01.013
LinkDB All DBs

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