KEGG   DISEASE: Muscular dystrophy-dystroglycanopathy type C
H01959                      Disease                                

Muscular dystrophy-dystroglycanopathy type C
Congenital muscular dystrophies (CMD/MDC) [DS:H00590]
Limb-girdle muscular dystrophy [DS:H00593]
Muscular dystrophy-dystroglycanopathy [DS:H02307]
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.
Nervous system disease; Musculoskeletal disease; Congenital disorder of metabolism
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
hsa00515  Mannose type O-glycan biosynthesis
N00633  POMK deficiency in mannose type O-glycan biosynthesis
N00634  ISPD deficiency in mannose type O-glycan biosynthesis
(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
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
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
Brain 130:2725-35 (2007)
Balci B, Uyanik G, Dincer P, Gross C, Willer T, Talim B, Haliloglu G, Kale G, Hehr U, Winkler J, Topaloglu H
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.
Neuromuscul Disord 15:271-5 (2005)
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
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.
Neuromuscul Disord 13:771-8 (2003)

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