Phenotypes for disease #01273 (hCK (hyperCKemia (hCK, elevated serum creatine phosphokinase)), OMIM:123320)

201 entries on 3 pages. Showing entries 1 - 100.
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0000058560 left facial palsy caused by a schwannoma; no muscle wasting/weakness; 15y-myopathy, central nuclei, increased variability, regenerating fibers, no necrotic fibers fiber size; raised CPK (HP:0003236) 2700-25000; >17y walking (-HP:0006957) - - Isolated (sporadic) - - 13y facial dysmorphism, prominent jaw - Johan den Dunnen 00078801
0000058561 no muscle/bone abnormalities; raised CPK (HP:0003236) 555-2990; >14y walking (-HP:0006957) - - Isolated (sporadic) - - - - - Johan den Dunnen 00078802
0000058573 raised CPK (HP:0003236) 4000; >39y walking (-HP:0006957) - - Unknown - - - - - Johan den Dunnen 00078814
0000058580 raised CPK (HP:0003236) 3138; >21y walking (-HP:0006957) - - Unknown - - - - - Johan den Dunnen 00078821
0000058581 raised CPK (HP:0003236) 4145; >34y walking (-HP:0006957) - - Unknown - - - - - Johan den Dunnen 00078822
0000058588 raised CPK (HP:0003236) 3131; >42y walking (-HP:0006957) - - Unknown - - - - - Johan den Dunnen 00078829
0000058589 raised CPK (HP:0003236) 4898; >47y walking (-HP:0006957) - - Unknown - - 20y - - Johan den Dunnen 00078830
0000058595 raised CPK (HP:0003236) 4000; >39y walking (-HP:0006957) - - Unknown - - - - - Johan den Dunnen 00078836
0000058598 raised CPK (HP:0003236) 3300-5400; >19y walking (-HP:0006957) - - Unknown - - - - - Johan den Dunnen 00078839
0000058604 raised CPK (HP:0003236) 3000-4000 - - Unknown - - - - - Johan den Dunnen 00078845
0000058605 raised CPK (HP:0003236) 3000-4000 - - Unknown - - - - - Johan den Dunnen 00078846
0000058621 no muscle weakness, atrophy, no caridaic/pulmonary involvement; MRI muscle fatty degeneration; raised CPK (HP:0003236) 3442 U/l; >38y walking (-HP:0006957) - - Isolated (sporadic) - - 34y elevated liver enzymes - Johan den Dunnen 00078862
0000058627 no atrophy, no muscle weakness, no calf pseudo hypertrophy, no cramps, no myalgia, no myoglobinuria, no cardiac involvement, no respiratory involvement; EMG ?; raised CPK (HP:0003236) 3x; >47y walking (-HP:0006957) - - Isolated (sporadic) - - - - - Johan den Dunnen 00078868
0000085809 myopathyathy;hCK; CPK 891 - - Familial - - 10y - WB CAV3 <5% Johan den Dunnen 00108215
0000085821 - - - Unknown - - - - IHC CAV3 normal Johan den Dunnen 00108227
0000085823 persistent highCK levels; CPK 981 (mother 1968) - - Unknown - - - - WB CAV3 reduced, DYSF normal, IHC CAV3 and DYSF reduced Johan den Dunnen 00108229
0000085826 cramps, stiffness and myalgia - - Unknown - - - - IHC CAV3 reduced Nicolas Levy 00108232
0000085836 - - - Isolated (sporadic) - - - - IHC CAV3 normal Johan den Dunnen 00108242
0000085840 cramps, stiffness and weakness - - Familial - - - - IHC no CAV3 Nicolas Levy 00108246
0000085847 CPK ~1060 - - Isolated (sporadic) - 4y - - CAV3 WB 71% reduced, IF greatly reduced Johan den Dunnen 00108253
0000085853 CPK ~630 - - Isolated (sporadic) - 6y - - CAV3 WB 84% reduced, IF greatly reduced Johan den Dunnen 00108259
0000085856 CPK 8500 - - Unknown - - 14y - WB CAV3 absent Johan den Dunnen 00108262
0000085861 no muscle weakness; CPK 2600;550 - - Unknown - 18y;49y - - CAV3 WB 65% reduced, IHC reduced, DYSF reduced Johan den Dunnen 00108267
0000085874 - - - Unknown - - - - - Johan den Dunnen 00108280
0000085940 CPK 900IU/l - - Familial - - - hyperCkemia, calf hypertrophy IHC CAV3 markedly reduced at cell surface, DMD/SGCA normal Johan den Dunnen 00108346
0000086036 calf hypertrophy - - Isolated (sporadic) - - - - - Johan den Dunnen 00108442
0000092730 elevated CK levels (up to 15,000 IU/I); 5y-muscle biopsy dystrophic pattern, IHC no dystrophin, tiptoe walking, behavioral problems; 13y-still able to walk without aids, no assistance climbing stairs, mild exercise intolerance, proximal weakness, pseudohypertrophic calves, no Gowers’ sign, cardiopulmonary no pathologically findings high CK - Unknown 13y - 00y02m elevated CK levels (chance obseervation) - Johan den Dunnen 00104605
0000094245 no muscle pathology; elevated serum CPK (HP:0003236) 2800 high CK BMD Unknown 9y - - - - Johan den Dunnen 00122415
0000094281 joint pains; elevated serum CPK (HP:0003236) 2203 high CK BMD Familial, X-linked - - 6y - IHC DMD, SGCA, SGCB, SGCD, SGCG normal Johan den Dunnen 00122726
0000094282 myalgia; elevated serum CPK (HP:0003236) 8480 high CK BMD Familial, X-linked - - - - - Johan den Dunnen 00122727
0000099037 uutism, also mutation-proven VHL; elevated serum CPK (HP:0003236) 4443; no motor delay (-HP:0001270) hyperCKemia BMD Familial, autosomal dominant - - 5y - - Brian Kirmse 00126805
0000099052 - high CK BMD Unknown - - - - IHC DMD unknown Alessandra Ferlini 00126820
0000099060 - high CK BMD Unknown - - - - IHC DMD unknown Alessandra Ferlini 00126828
0000099061 - high CK BMD Unknown - - - - IHC DMD unknown Alessandra Ferlini 00126829
0000099094 - high CK BMD Unknown - - - - IHC DMD unknown Alessandra Ferlini 00126862
0000099138 - high CK BMD Unknown - - - - IHC DMD unknown Alessandra Ferlini 00126906
0000099567 asymptomatic high CK BMD Familial, X-linked - - - - - Ieke Ginjaar 00127341
0000099637 no muscle weakness; elevated serum CPK (HP:0003236) >3000 U/l high CK hyperCKemia Unknown 12y - - - IHC few DMD negative fibers Lab Müller-Reible 00127414
0000105273 - high CK hyperCKemia Unknown - - - - nr Alessandra Ferlini 00132491
0000105274 - high CK hyperCKemia Unknown - - - - nr Alessandra Ferlini 00132492
0000105306 - high CK hyperCKemia Unknown - - - - IHC mosaic reduced DMD Alessandra Ferlini 00132524
0000105307 - high CK hyperCKemia Unknown - - - - nr Alessandra Ferlini 00132525
0000105311 - high CK hyperCKemia Unknown - - - - nr Alessandra Ferlini 00132529
0000105313 - high CK hyperCKemia Unknown - - - - nr Alessandra Ferlini 00132531
0000105321 - high CK hyperCKemia Unknown - - - - nr Alessandra Ferlini 00132539
0000105356 - high CK hyperCKemia Unknown - - - - nr Alessandra Ferlini 00132574
0000105357 - high CK hyperCKemia Unknown - - - - nr Alessandra Ferlini 00132575
0000105360 - high CK hyperCKemia Unknown - - - - nr Alessandra Ferlini 00132578
0000105365 - high CK hyperCKemia Unknown - - - - nr Alessandra Ferlini 00132583
0000105376 - high CK, cardiomyopathy hyperCKemia; cardiomyopaathy Unknown - - - - nr Alessandra Ferlini 00132594
0000106116 easy fatigability; 500-1500 elevated CPK (HP:0003236) hyperCKemia - Unknown - - 8y - SGCA WB/IHC strongly reduced Johan den Dunnen 00133369
0000106141 benign; recurrent myositis-like episodes, weakness complaints; raised CPK (HP:0003236) hyperCKemia - Isolated (sporadic) - 54y - - WB reduced SGCA, normal SGCG Johan den Dunnen 00133394
0000106142 benign; tiredness; 700-2000 elevated CPK (HP:0003236) hyperCKemia - Unknown - 24y - routine check up WB severely reduced SGCA, normal SGCG Johan den Dunnen 00133395
0000106259 - hyperCKemia - Unknown - - - - WB reduced SGCA Marina Fanin 00133512
0000106261 - hyperCKemia - Unknown - - - - WB reduced SGCA Marina Fanin 00133514
0000106342 - hyperCKemia - Unknown - - - - - Johan den Dunnen 00133595
0000106760 - hyperCKemia - Unknown - - - - - Marina Fanin 00134011
0000109010 X-linked myalgia and cramps, calf hypertrophy, no muscular weakness hyperCKemia - Unknown - - - - - Johan den Dunnen 00136261
0000109661 - hyperCKemia - Unknown - 20y - - - Johan den Dunnen 00136912
0000109772 elevated serum CPK (HP:0003236) 2950 hyperCKemia - Familial - 8y 5y recurrent emesis - Johan den Dunnen 00137023
0000110665 - hyperCKemia - Unknown - 56y - - - Johan den Dunnen 00137917
0000113991 no muscle symptoms; elevated serum CPK (HP:0003236) 400-500 IU hyperCKemia - Unknown - - 2y6m - - Peter Taylor 00141243
0000114459 5y-elevated CK (HP:0003236) 1035 IU/l; 12y-myalgias with exertion and decreased stamina, minimal limb-girdle weakness hyperCkemia dystrophy, muscular, Becker type (BMD) Familial, X-linked recessive - - 00y18m elevation of serum transaminases - Kevin Flanigan 00141711
0000115134 - hyperCKemia - Unknown - - - - - Alessandra Ferlini 00142386
0000115170 - hyperCKemia - Unknown - - - - IHC DMD unknown Alessandra Ferlini 00142422
0000115226 - hyperCKemia - Unknown - - - - IHC DMD unknown Alessandra Ferlini 00142478
0000115227 - hyperCKemia - Unknown - - - - IHC DMD unknown Alessandra Ferlini 00142479
0000115263 - hyperCKemia - Unknown - - - - IHC DMD unknown Alessandra Ferlini 00142515
0000115277 - hyperCKemia - Unknown - - - - IHC DMD unknown Alessandra Ferlini 00142529
0000115313 - hyperCKemia - Unknown - - - - IHC DMD unknown Alessandra Ferlini 00142565
0000115343 - hyperCKemia - Unknown - - - - IHC DMD unknown Alessandra Ferlini 00142595
0000115351 - hyperCKemia - Unknown - - - - IHC DMD unknown Alessandra Ferlini 00142603
0000115362 - hyperCKemia - Unknown - - - - IHC DMD reduced Alessandra Ferlini 00142614
0000115364 - hyperCKemia - Unknown - - - - IHC DMD unknown Alessandra Ferlini 00142616
0000115369 - hyperCKemia - Unknown - - - - IHC DMD unknown Alessandra Ferlini 00142621
0000115392 - hyperCKemia - Unknown - - - - IHC DMD unknown Alessandra Ferlini 00142644
0000115393 - hyperCKemia - Unknown - - - - IHC reduced DMD Alessandra Ferlini 00142645
0000115431 - hyperCKemia - Unknown - - - - ? Alessandra Ferlini 00142683
0000115457 unknown loss ability to walk (?HP:0006957) >18y hyperCKemia - Unknown - 12y - - IHC reduced DMD Alessandra Ferlini 00142709
0000115458 - hyperCKemia - Unknown - - - - ? Alessandra Ferlini 00142710
0000115745 - hyperCKemia - Familial, X-linked recessive - - - - - Jovan Pesović 00142997
0000115747 - hyperCKemia - Unknown - - - - - Jovan Pesović 00142999
0000117092 born at term, birth asphyxia, serum creatine kinase level highly elevated (25 510 IU/l); 15m walked unassisted; 2y-muscle biopsy no reactive dystrophin; 3y- serum creatine kinase was 21 776 IUl1, normal growth, moderate mental retardation (developmental quotient: 40); MRI brain normal hyperCkemia DMD, MR Isolated (sporadic) 03y - - - - Johan den Dunnen 00124546
0000117341 mild fatigue, no muscle weakness, no overt pseudohypertrophy, EMG mild myopathy, MRI muscle normal, raised CK (400-500 U/l) hyperCKemia - Unknown 11y - - mMyoglobinuria precipitated by infection - Johan den Dunnen 00124500
0000117342 hyperCKemia, no fatigue, no muscle weakness, no overt pseudohypertrophy hyperCKemia - Unknown 3y - - - - Johan den Dunnen 00144601
0000117343 elevated ALT/AST, no fatigue, no muscle weakness, normal calf muscles hyperCKemia - Unknown 9y - - - - Johan den Dunnen 00144602
0000117344 fatigue, dizziness, mild fatigue, no muscle weakness, calf muscle hypertrophy hyperCKemia - Familial, X-linked recessive 13y - - - - Johan den Dunnen 00144603
0000117345 hyperCKemia, no fatigue, no muscle weakness, no overt pseudohypertrophy hyperCKemia - Familial, X-linked recessive 5y6m - - - - Johan den Dunnen 00144604
0000117346 elevated ALT/AST, no fatigue, mild proximal muscle weakness (MRC+4), normal calf muscles hyperCKemia - Familial, X-linked recessive 5y6m - - - - Johan den Dunnen 00144605
0000117347 hyperCKemia, mild fatigue, no muscle weakness, normal calf muscles hyperCKemia - Familial, X-linked recessive 7y - - - - Johan den Dunnen 00144606
0000117372 calf hypertrophy (HP:0008981), no muscle pain (-HP:0003326), no exercise-indiced muscle cramps (-HP:0003710), increased fatigability (HP:0003710), decreased muscle tone (HP:0001290), no decreased tendon reflexes (-HP:0001315), decreased muscle force, no EMG abnormality (-HP:0003458), elevated serum CPK (HP:0000003236) 1891 (normal 0-170) hyperCKemia dystrophy, muscular, Becker (BMD) Unknown 8y - - - - Johan den Dunnen 00144635
0000117373 calf hypertrophy (HP:0008981), no muscle pain (-HP:0003326), no exercise-indiced muscle cramps (-HP:0003710), no increased fatigability (-HP:0003710), decreased muscle tone (HP:0001290), decreased tendon reflexes (HP:0001315), decreased muscle force, elevated serum CPK (HP:0000003236) 5880 (normal 0-170) hyperCKemia dystrophy, muscular, Becker (BMD) Familial, X-linked recessive 4y - - - - Johan den Dunnen 00144636
0000117374 no calf hypertrophy (-HP:0008981), no muscle pain (-HP:0003326), no exercise-indiced muscle cramps (-HP:0003710), no increased fatigability (-HP:0003710), no decreased muscle tone (-HP:0001290), no decreased tendon reflexes (-HP:0001315), no decreased muscle force hyperCKemia dystrophy, muscular, Becker (BMD) Familial, X-linked recessive 65y - - - - Johan den Dunnen 00144637
0000117375 no calf hypertrophy (-HP:0008981), muscle pain (HP:0003326), no exercise-indiced muscle cramps (-HP:0003710), increased fatigability (HP:0003710), no decreased muscle tone (-HP:0001290), decreased tendon reflexes (HP:0001315), no decreased muscle force, EMG mild myopathic features (HP:0003458), elevated serum CPK (HP:0000003236) 4800 (normal 0-170) hyperCKemia dystrophy, muscular, Becker (BMD) Unknown 8y - - - - Johan den Dunnen 00144638
0000117376 calf hypertrophy (HP:0008981), muscle pain (HP:0003326), no exercise-indiced muscle cramps (-HP:0003710), increased fatigability (HP:0003710), decreased muscle tone (HP:0001290), no decreased tendon reflexes (-HP:0001315), no decreased muscle force, elevated serum CPK (HP:0000003236) 3184 (normal 0-170) hyperCKemia dystrophy, muscular, Becker (BMD) Familial, X-linked recessive 8y - - - - Johan den Dunnen 00144639
0000117377 calf hypertrophy (HP:0008981), no muscle pain (-HP:0003326), exercise-indiced muscle cramps (HP:0003710), no increased fatigability (-HP:0003710), no decreased muscle tone (-HP:0001290), no decreased tendon reflexes (-HP:0001315), no decreased muscle force hyperCKemia dystrophy, muscular, Becker (BMD) Familial, X-linked recessive 36y - - - - Johan den Dunnen 00144640
0000117378 calf hypertrophy (HP:0008981), no muscle pain (-HP:0003326), exercise-indiced muscle cramps (HP:0003710), increased fatigability (HP:0003710), no decreased muscle tone (-HP:0001290), no decreased tendon reflexes (-HP:0001315), no decreased muscle force, no EMG abnormality (-HP:0003458), elevated serum CPK (HP:0000003236) 4400 (normal 0-170) hyperCKemia dystrophy, muscular, Becker (BMD) Familial, X-linked recessive 26y - - - - Johan den Dunnen 00144641
0000117379 calf hypertrophy (HP:0008981), muscle pain (HP:0003326), no exercise-indiced muscle cramps (-HP:0003710), increased fatigability (HP:0003710), no decreased muscle tone (-HP:0001290), no decreased tendon reflexes (-HP:0001315), no decreased muscle force, EMG mild myopathic features (HP:0003458), elevated serum CPK (HP:0000003236) 2800 (normal 0-170) hyperCKemia dystrophy, muscular, Becker (BMD) Familial, X-linked recessive 14y - - - - Johan den Dunnen 00144642
0000117380 calf hypertrophy (HP:0008981), no muscle pain (-HP:0003326), no exercise-indiced muscle cramps (-HP:0003710), increased fatigability (HP:0003710), no decreased muscle tone (-HP:0001290), decreased tendon reflexes (HP:0001315), no decreased muscle force, elevated serum CPK (HP:0000003236) 510 (normal 0-170) hyperCKemia dystrophy, muscular, Becker (BMD) Familial, X-linked recessive 68y - - - - Johan den Dunnen 00144643
0000117381 no calf hypertrophy (-HP:0008981), no muscle pain (-HP:0003326), no exercise-indiced muscle cramps (-HP:0003710), no increased fatigability (-HP:0003710), decreased muscle tone (HP:0001290), decreased tendon reflexes (HP:0001315), decreased muscle force, no EMG abnormality (-HP:0003458), elevated serum CPK (HP:0000003236) 1750/4730 (normal 0-170) hyperCKemia dystrophy, muscular, Becker (BMD) Familial, X-linked recessive 4y - - - - Johan den Dunnen 00144644
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