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Phenotypes for disease #01273 (hCK (hyperCKemia (hCK, elevated serum creatine phosphokinase)), OMIM:123320)
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Phenotype details
: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)
Diagnosis/Initial
: initial diagnosis, before molecular testing
Diagnosis/Definite
: phenotype individual after molecular testing (OMIM abbreviation)
Inheritance
: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:
Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable
Age/Examination
: age at which the individual was examined.
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Age/Diagnosis
: age diagnosis was confirmed
Age/Onset
: Age first symptoms disease appeared in individual:
35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown
Phenotype/Onset
: individual's phenotype at Age/Onset described using HPO
Protein
: result from protein staining
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203 entries on 3 pages. Showing entries 1 - 100.
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Phenotype ID
Phenotype details
Diagnosis/Initial
Diagnosis/Definite
Inheritance
Age/Examination
Age/Diagnosis
Age/Onset
Phenotype/Onset
Protein
Owner
Individual ID
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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