KEGG   DISEASE: Muscular dystrophy-dystroglycanopathy
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) is characterized by congenital muscular dystrophy with severe structural brain and eye abnormalities. Conversely, the mildest clinical spectrum (type C) is with limb-girdle muscular dystrophy. Type B is an intermediate phenotype between type A and C.
Category
Inherited metabolic disorder
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
Pathway-based classification of diseases [BR:br08402]
 Glycan/glycoprotein metabolism
  nt06013  O-Glycan biosynthesis
   H02307  Muscular dystrophy-dystroglycanopathy
 Cellular process
  nt06539  Cytoskeleton in muscle cells
   H02307  Muscular dystrophy-dystroglycanopathy
Pathway
hsa00515  Mannose type O-glycan biosynthesis
hsa04820  Cytoskeleton in muscle cells
Network
nt06013 O-Glycan biosynthesis
nt06539 Cytoskeleton in muscle cells
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 616538
Reference
PMID:17878207
  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
PMID:15792865
  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
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