List of diseases ( 2 )

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*In relation to the information that are not described below, please e-mail to the following address.

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Update : 2017.02.17

Name of diseases Patient No HPS Reference
15. Spinal-Bulbar Muscular Atrophy (SBMA)
Spinal-Bulbar Muscular Atrophy (SBMA) 1 HPS0350
2 HPS0479 HPS0480 HPS0481 PMID: 23193063
24399248
3 HPS0482 HPS0483 HPS0484 PMID: 23193063
24399248
16. Amyotrophic lateral sclerosis (ALS)
Amyotrophic lateral sclerosis (ALS) 1 HPS0059
2 HPS0247
3 HPS0248
4 HPS0249
5 HPS0250
6 HPS0251
7 HPS0252
8 HPS0253
9 HPS0327 HPS0290 HPS0291 PMID: 22855461
10 HPS0292 HPS0293 HPS0294 PMID: 22855461
11 HPS0419 HPS0420 HPS0421
12 HPS0473 HPS0474 HPS0475 PMID: 23193063
24399248
13 HPS0476 HPS0477 HPS0478 PMID: 23193063
24399248
14 HPS0485 HPS0486 HPS0487 PMID: 23193063
24399248
Amyotrophic lateral sclerosis (ALS), familia amyotrophic lateral sclerosis (FALS) 1 HPS0140* HPS0141* HPS0142*
Amyotrophic lateral sclerosis (ALS), bulbar, with UMN (bulbar, with UMN) 1 HPS0146* HPS0147* HPS0148*
Amyotrophic lateral sclerosis (ALS), classical, with UMN 1 HPS0128* HPS0129* HPS0130*
Amyotrophic lateral sclerosis (ALS), pseudo-polyneuritic, w/o UMN 1 HPS0134* HPS0135* HPS0136*
17. Spinal muscular atrophy
Spinal muscular atrophy, SMA Type I 1 HPS0235* HPS0236* HPS0237*
2 HPS0158 HPS0159
Spinal muscular atrophy, SMA type III (Kugelberg-Welander disease) 1 HPS0229* HPS0230* HPS0231*
2 HPS0115
18. Primary lateral sclerosis (PLS)
Primary lateral sclerosis (PLS) 1 HPS0414 HPS0415 HPS0416
2 HPS0417 HPS0418
19. Parkinson’s disease (PD)
Parkinson’s disease (PD) 1 HPS0264
2 HPS0435 HPS0436
3 HPS0491 HPS0492 HPS0493 PMID: 23193063
24399248
4 HPS0509
5 HPS0510
Parkinson’s disease (PD), Familial type, PARK2 1 HPS0096 HPS0097 HPS0098 HPS0099
2 HPS0304 HPS0305
20. Huntington’s disease
Huntington’s disease 1 HPS0263
21. Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease 1 HPS0426 HPS0427 HPS0428
2 HPS0429 HPS0430 HPS0431
3 HPS0432 HPS0433 HPS0434
4 HPS0507
5 HPS0508
22. Congenital myasthenic syndromes
Congenital myasthenic syndromes 1 HPS0982 HPS0983 HPS0984 HPS0985 HPS0986 HPS0987 HPS0988 HPS0989 HPS0990
2 HPS1066 HPS1067 HPS1068 HPS1069 HPS1070
23. Inclusion body myositis
Inclusion body myositis 1 HPS0181* HPS0182* HPS0183*
2 HPS0351 HPS0352 HPS0353 NEW
24. Spinocerebellar Degeneration
Spinocerebellar Degeneration 1 HPS0422 HPS0423 HPS0424
2 HPS0425
3 HPS0464 HPS0465 HPS0466 PMID: 23193063
24399248
4 HPS0467 HPS0468 HPS0469 PMID: 23193063
24399248
5 HPS1074
6 HPS1772 NEW
7 HPS1773 NEW
8 HPS1774 NEW
9 HPS1775 NEW
25. Moyamoya disease
Moyamoya disease 1 HPS0215* HPS0216* HPS0217*
2 HPS0241* HPS0242* HPS0243*
26. Congenital myopathy
Congenital fiber type disproportion disease 1 HPS0143* HPS0144* HPS0145*
27. Muscular dystrophy
Muscular dystrophy, Duchenne type 1 HPS0163* HPS0164* HPS0165*
2 HPS0166* HPS0167* HPS0168*
3 HPS0169* HPS0170* HPS0171*
4 HPS0312 HPS0313 NEW HPS0314 HPS0315 HPS0316
5 HPS0383 NEW HPS0384 HPS0385 HPS0386 HPS0387 PMID: 25434822
Muscular dystrophy, Duchenne type (manifesting carrier) 1 HPS0317 HPS0318 HPS0319 HPS0320 HPS0321
HPS0322* HPS0323* NEW HPS0324* HPS0325*
Muscular dystrophy, Becker type 1 HPS0232* HPS0233* HPS0234*
Muscular dystrophy, Limb-girdle type 1 HPS0198* HPS0199* HPS0200*
Muscular dystrophy, Miyoshi type 1 HPS0131* HPS0132* HPS0133*
Muscular dystrophy, Myotonic Dystrophy 1 HPS0393 NEW HPS0394
2 HPS0395 NEW HPS0396
3 HPS0540 NEW HPS0541 HPS0542
28. Periodic paralysis
Periodic paralysis 1 HPS1062 HPS1063 HPS1064 HPS1065
29. Frontotemporal dementia
Frontotemporal dementia 1 HPS0470 HPS0471 HPS0472 PMID: 23193063
24399248
30. Congenital hypomyelinating luekodystrophy
Allan-Herndon syndrome 1 HPS0152* HPS0153* HPS0154*
Pelizaeus-Merzbacher disease 1 HPS0066* HPS0067* HPS0068*
31. Xeroderma pigmentosum
Xeroderma pigmentosum (A) 1 HPS1750
Xeroderma pigmentosum (C) 1 HPS1000 HPS1001 HPS1002 HPS1003 HPS1004
2 HPS1751


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