KEGG   DISEASE: Muscular dystrophy-dystroglycanopathy type C
Entry
H01959                      Disease                                

Name
Muscular dystrophy-dystroglycanopathy type C
  Supergrp
Congenital muscular dystrophies (CMD/MDC) [DS:H00590]
Limb-girdle muscular dystrophy [DS:H00593]
Muscular dystrophy-dystroglycanopathy [DS:H02307]
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. Muscular dystrophy-dystroglycanopathy type C (MDDGC) is the mildest clinical spectrum. It is late onset limb-girdle muscular dystrophy with no associated brain or eye involvement.
Category
Nervous system disease; Musculoskeletal disease; Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H01959  Muscular dystrophy-dystroglycanopathy type C
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
     H01959  Muscular dystrophy-dystroglycanopathy type C
Pathway
hsa00515  Mannose type O-glycan biosynthesis
Network
  Element
N00633  POMK deficiency in mannose type O-glycan biosynthesis
N00634  ISPD deficiency in mannose type O-glycan biosynthesis
Gene
(MDDGC1) POMT1 [HSA:10585] [KO:K00728]
(MDDGC2) POMT2 [HSA:29954] [KO:K00728]
(MDDGC3) POMGNT1 [HSA:55624] [KO:K09666]
(MDDGC4) FKTN [HSA:2218] [KO:K19872]
(MDDGC5) FKRP [HSA:79147] [KO:K19873]
(MDDGC7) ISPD [HSA:729920] [KO:K21031]
(MDDGC9) DAG1 [HSA:1605] [KO:K06265]
(MDDGC12) POMK [HSA:84197] [KO:K17547]
(MDDGC14) GMPPB [HSA:29925] [KO:K00966]
Other DBs
ICD-11: 8C70.41
ICD-10: G71.2
MeSH: D049288
OMIM: 609308 613158 613157 611588 607155 616052 613818 616094 615352
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
Reference
  Authors
Dincer P, Balci B, Yuva Y, Talim B, Brockington M, Dincel D, Torelli S, Brown S, Kale G, Haliloglu G, Gerceker FO, Atalay RC, Yakicier C, Longman C, Muntoni F, Topaloglu H
  Title
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.
  Journal
Neuromuscul Disord 13:771-8 (2003)
DOI:10.1016/S0960-8966(03)00161-5
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