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  Mim number
NAME OF DISEASE
ICD identifier
ICD name
ORPHA number
ORPHA name
anatomic origin type of cells Nb of persons Bank Contact Last update Date  
  310200
Duchenne dystrophy, DMD
G71.0
Muscular dystrophy
98896
Muscular dystrophy, Duchenne type
Musculoskeletal System myoblasts 38 mmora@istituto-besta.it 2011-11-15  
  300376
Becker dystrophy, BMD
G71.0
Muscular dystrophy
98895
Muscular dystrophy, Becker type
Musculoskeletal System myoblasts 34 mmora@istituto-besta.it 2011-11-15  
  310200
DMD/BMD carrier
G71.0
Muscular dystrophy
262
Duchenne and Becker muscular dystrophy
Musculoskeletal System myoblasts 16 mmora@istituto-besta.it 2011-11-15  
  253600
LGMD2A, calpainopathy
G71.0
Muscular dystrophy
267
Muscular dystrophy, limb-girdle type 2A
Musculoskeletal System myoblasts 4 mmora@istituto-besta.it 2011-11-15  
  253601
LGMD2B, dysferlinopathy
G71.0
Muscular dystrophy
268
muscular dystrophy, limb-girdle, type 2B
Musculoskeletal System myoblasts 8 mmora@istituto-besta.it 2011-11-15  
  253700
LGMD2C, gamma-sarcoglycanopathy
G71.0
Muscular dystrophy
353
Muscular dystrophy, limb-girdle, type 2C
Musculoskeletal myoblasts 2 mmora@istituto-besta.it 2011-11-15  
  600899
LGMD2D, alpha-sarcoglycanopathy
G71.0
Muscular dystrophy
62
Muscular dystrophy, limb-girdle, type 2D
Musculoskeletal System myoblasts 2 mmora@istituto-besta.it 2011-11-15  
  607155
LGMD2I, FKRP
G71.0
Muscular dystrophy
34515
Muscular dystrophy, limb-girdle, type 2I
Musculoskeletal System myoblasts 2 mmora@istituto-besta.it 2011-11-15  
  607801
LGMD1C, caveolinopathy
G71.0
Muscular dystrophy
265
muscular dystrophy, limb-girdle, type 1C
Musculoskeletal System myoblasts 3 mmora@istituto-besta.it 2011-11-15  
  310300
EDMD X-linked
G71.0
Muscular dystrophy
261
Emery-Dreifuss muscular dystrophy, X linked (il n° orpha mi distingue i due geni vedi sotto pertanto non sarebbe necessario mettere X linked)
Integumentary System fibroblasts 1 mmora@istituto-besta.it 2011-11-15  
  607855
Merosinopathy, LAMA2
G71.2
Congenital myopathies
258
muscular dystrophy,, congenital merosin deficient, 1A
Musculoskeletal System myoblasts 4 mmora@istituto-besta.it 2011-11-15  
  606612
Congenital Dystrophy. FKRP
G71.2
Congenital myopathies
13486
Congenital muscular dystrophy due to glycosyltransferase anomaly
Musculoskeletal System myoblasts 2 mmora@istituto-besta.it 2011-11-15  
  607423
Congenital Dystrophy. POMT1
G71.2
Congenital myopathies
13486
Congenital muscular dystrophy due to glycosyltransferase anomaly
Musculoskeletal System myoblasts 1 mmora@istituto-besta.it 2011-11-15  
  606822
Congenital Dystrophy. POMGnT1
G71.2
Congenital myopathies
13486
Congenital muscular dystrophy due to glycosyltransferase anomaly
Musculoskeletal System myoblasts 3 mmora@istituto-besta.it 2011-11-15  
  607440
Congenital Dystrophy. Fukutin
G71.2
Congenital myopathies
13486
Congenital muscular dystrophy due to glycosyltransferase anomaly
Musculoskeletal System myoblasts 1 mmora@istituto-besta.it 2011-11-15  
  158900
Facio-scapulo-humeral, FSHD1
G71.0
Muscular dystrophy
269
Facioscapulohumeral muscular dystrophy 1A
Musculoskeletal myoblasts 13 mmora@istituto-besta.it 2011-11-15  
  160900
Myotonic dystrophy, Steinert, DM1
G71.1
Myotonic disorders
273
Myotonic dystrophy type 1
Musculoskeletal System myoblasts 1 mmora@istituto-besta.it 2011-11-15  
  602668
Myotonic dystrophy type 2, PROMM, DM2
G71.1
Myotonic disorders
606
Myotonic dystrophy type 2
Musculoskeletal System myoblasts 1 mmora@istituto-besta.it 2011-11-15  
 
Thomsen/Becker disease CLCN1 channel
G71.1
Myotonic disorders
75
Thomsen and Becker disease
Musculoskeletal System myoblasts 1 mmora@istituto-besta.it 2011-11-15  
  170400
Hypokaliemic periodic paralysis
G72.3
Periodic paralysis
211
Hypokalemic periodic paralysis
Musculoskeletal System myoblasts 3 mmora@istituto-besta.it 2011-11-15  
 
Scapulo-peroneal dystrophy
G71.0
Muscular dystrophy
11628
Scapuloperoneal amyotrophy
Musculoskeletal System myoblasts 2 mmora@istituto-besta.it 2011-11-15  
  164300
Oculo-pharyngeal dystrophy
G71.0
Muscular dystrophy
664
Oculopharyngeal muscular dystrophy
Musculoskeletal System myoblasts 3 mmora@istituto-besta.it 2011-11-15  
 
Myofibrillar myopathy
G71.0
Muscular dystrophy
68
Myofibrillary myopathy
Musculoskeletal System myoblasts 2 mmora@istituto-besta.it 2011-11-15  
  605820
Distal myopahy, Nonaka type
G71.0
Muscular dystrophy
8729
Distal myopathy, Nonaka type
Musculoskeletal System myoblasts 1 mmora@istituto-besta.it 2011-11-15  
 
Nemaline myopathy
G71.2
Congenital myopathies
66
Nemaline myopathy
Musculoskeletal System myoblasts 1 mmora@istituto-besta.it 2011-11-15  

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Last updated on 2011/05/12