Disease #01273

Official abbreviation hCK
Name hyperCKemia (hCK, elevated serum creatine phosphokinase)
OMIM ID 123320
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 145
Phenotype entries for this disease 194
Associated with 2 genes CAV3, DMD
Associated tissues -
Disease features -
Remarks -


Individuals

145 entries on 2 pages. Showing entries 1 - 100.
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00078801 - PubMed: Witting 2012 2-generation family, affected male M - Denmark - - 0 - - hCK 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) ANO5 ANO5 2 1 Johan den Dunnen
00078802 - PubMed: Witting 2012 2-generation family, affected sister F - Denmark - - 0 - - hCK no muscle/bone abnormalities; raised CPK (HP:0003236) 555-2990; >14y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078814 - PubMed: Wahbi 2012 - M - France - - 0 - - hCK raised CPK (HP:0003236) 4000; >39y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078821 - PubMed: Wahbi 2012 - M - France - - 0 - - hCK raised CPK (HP:0003236) 3138; >21y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078822 - PubMed: Wahbi 2012 - M - France - - 0 - - hCK raised CPK (HP:0003236) 4145; >34y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078829 - PubMed: Wahbi 2012 - M - France - - 0 - - hCK raised CPK (HP:0003236) 3131; >42y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078830 - PubMed: Wahbi 2012 - F - France - - 0 - - hCK raised CPK (HP:0003236) 4898; >47y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078836 - PubMed: Sarkozy 2012 - M - France - - 0 - - hCK raised CPK (HP:0003236) 4000; >39y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078839 - PubMed: Sarkozy 2012 - F - Germany - - 0 - - hCK raised CPK (HP:0003236) 3300-5400; >19y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078845 - PubMed: Penttila 2012 - F - Finland - - 0 - - hCK raised CPK (HP:0003236) 3000-4000 ANO5 ANO5 2 1 Johan den Dunnen
00078846 - PubMed: Penttila 2012 - F - Finland - - 0 - - hCK raised CPK (HP:0003236) 3000-4000 ANO5 ANO5 2 1 Johan den Dunnen
00078862 - PubMed: Schessl 2012 - M - Germany - - 0 - - hCK no muscle weakness, atrophy, no caridaic/pulmonary involvement; MRI muscle fatty degeneration; raised CPK (HP:0003236) 3442 U/l; >38y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078868 - PubMed: Magrib 2012 3-generation family, 2 affecteds, unaffecteds carrier parents and sibs F no Italy - - 0 - - hCK 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) ANO5 ANO5 2 1 Johan den Dunnen
00108215 - PubMed: Fulizio, OMIM:var0005 4 affecteds M - Italy - - 0 - - hCK myopathyathy;hCK; CPK 891 CAV3 CAV3 1 4 Johan den Dunnen
00108227 - PubMed: Reijneveld 2006 - ? - Netherlands - - 0 - - hCK - CAV3 CAV3 1 1 Johan den Dunnen
00108229 - PubMed: Alias mother and brother carrier; discovered from routine blood test ? - Spain - - 0 - - hCK persistent highCK levels; CPK 981 (mother 1968) CAV3 CAV3 1 3 Johan den Dunnen
00108232 - - - ? - France - - 0 - - hCK cramps, stiffness and myalgia CAV3 CAV3 1 1 Nicolas Levy
00108242 - PubMed: Reijneveld 2006 - ? - Netherlands - - 0 - - hCK - CAV3 CAV3 1 1 Johan den Dunnen
00108246 - - carrier father has isolated hCK ? - France - - 0 - - hCK cramps, stiffness and weakness CAV3 CAV3 1 1 Nicolas Levy
00108253 - PubMed: Carbone, OMIM:var0007 - M - Italy - - 0 - - hCK CPK ~1060 CAV3 CAV3 1 1 Johan den Dunnen
00108259 - PubMed: Carbone, OMIM:var0007 - F - Italy - - 0 - - hCK CPK ~630 CAV3 CAV3 1 1 Johan den Dunnen
00108262 - PubMed: Fulizio, OMIM:var0007 mother carrier M - Italy - - 0 - - hCK CPK 8500 CAV3 CAV3 1 2 Johan den Dunnen
00108267 - PubMed: Merlini, PubMed: Capanni, OMIM:var0012 mother and son M;F - Italy - - 0 - - hCK no muscle weakness; CPK 2600;550 CAV3 CAV3 1 2 Johan den Dunnen
00108280 - Politano et al., Neuromuscul.Disord. 12: 733 - - - - - - 0 - - hCK - CAPN3, CAV3 CAPN3, CAV3 2 1 Johan den Dunnen
00108346 - PubMed: Traverso 2008 3-generation family, 4 affecteds (1 unafected homozygous carrier) M - Italy - 40y 0 - - hCK CPK 900IU/l CAV3 CAV3 1 4 Johan den Dunnen
00108442 - PubMed: Traverso 2008 father 18487559-Pat1 M - Italy - - 0 - - hCK calf hypertrophy CAV3 CAV3 1 1 Johan den Dunnen
00133369 - PubMed: Mongini - M - Italy - - 0 - - hCK easy fatigability; 500-1500 elevated CPK (HP:0003236) SGCA SGCA 2 1 Johan den Dunnen
00133394 - PubMed: Carrie 1997 - F no France - >54y 0 - - hCK benign; recurrent myositis-like episodes, weakness complaints; raised CPK (HP:0003236) SGCA SGCA 2 1 Johan den Dunnen
00133395 - PubMed: Carrie 1997 raised serum transaminase F - Morocco - - 0 - - hCK benign; tiredness; 700-2000 elevated CPK (HP:0003236) SGCA SGCA 2 1 Johan den Dunnen
00133512 - - - M ? Italy - - 0 - - hCK - SGCA SGCA 2 1 Marina Fanin
00133514 - - - F ? (Italy) white - 0 - - hCK - SGCA SGCA 1 1 Marina Fanin
00133595 - Politano et al., Neuromuscul.Disord. 12: 733 - - - - - - 0 - - hCK - SGCA SGCB 1 2 Johan den Dunnen
00134011 - - - F - (Italy) white - 0 - - hCK - SGCG SGCG 1 1 Marina Fanin
00136261 - PubMed: Gospe - M - - - - 0 - - hCK X-linked myalgia and cramps, calf hypertrophy, no muscular weakness DMD DMD 1 9 Johan den Dunnen
00136912 - PubMed: Comi analysis 59 BMD cases M - Italy - - 0 - - hCK - DMD DMD 1 1 Johan den Dunnen
00137023 - PubMed: Saengpattrachai 2006 3-generation family, carrier unaffected grandfather, 4 carrier daugthers and affected and asymptomatic grandson 16876015.III2 M - (Canada) - - 0 - - hCK elevated serum CPK (HP:0003236) 2950 DMD DMD 1 1 Johan den Dunnen
00137917 - PubMed: Comi analysis 59 BMD cases M - Italy - - 0 - - hCK - DMD DMD 1 1 Johan den Dunnen
00141243 - - - F - Australia - - 0 - - hCK no muscle symptoms; elevated serum CPK (HP:0003236) 400-500 IU DMD DMD 1 1 Peter Taylor
00141341 - Novakovic, ICHG2001#P1500 - {DBSubm00141} - M - Yugoslavia - - 0 - - hCK - DMD DMD 1 1 L. Lukovic
00142386 - Bovolenta, in press - M - Italy - - 0 - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142422 - - - M - Italy - - 0 - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142478 - - - M - Italy - - 0 - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142479 - - - M - Italy - - 0 - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142503 - PubMed: Wein 2014 - M no Italy - - 0 - - hCK met early motor milestones, no muscular dystrophy; 15y-neurological examination entirely normal, muscle biopsy showed slight fiber size variability, in some sections increased number of central nuclei, along with some densely stained hypercontracted fibers; elevated serum CPK (HP:0003236) 550 IU/l; normal motor ability; unknown loss ability to walk (?HP:0006957) >15y DMD DMD 1 1 Alessandra Ferlini
00142515 - - - F - Italy - - 0 - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142529 - - - M - Italy - - 0 - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142565 - - - M - Italy - - 0 - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142595 - - - M - Italy - - 0 - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142603 - - - M - Italy - - 0 - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142614 - - - F - Italy - - 0 - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142616 - - - F - Italy - - 0 - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142621 - - - M - Italy - - 0 - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142644 - - - M - Italy - - 0 - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142645 - - - F - Italy - - 0 - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142683 - - - M - Italy - - 0 - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142709 - PubMed: Gualandi 2009, Bovolenta, in press Pat21 M - Italy - - 0 - - hCK unknown loss ability to walk (?HP:0006957) >18y DMD DMD 1 1 Alessandra Ferlini
00142710 - - - M - Italy - - 0 - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142997 - - - M - Yugoslavia - - 0 - - hCK - DMD DMD 1 1 Jovan Pesović
00142999 - - - M - Yugoslavia - - 0 - - hCK - DMD DMD 1 1 Jovan Pesović
00146565 N3133 Politano et al., Neuromuscul.Disord. 12: 733 - - - - - - 0 - - hCK - FKRP FKRP 1 1 Johan den Dunnen
00146757 N2014 Politano et al., Neuromuscul.Disord. 12: 733 - - - - - - 0 - - hCK - FKRP FKRP 1 1 Johan den Dunnen
00150148 26539891-FamHOU2231PatBAB5866 PubMed: Karaca 2015 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Turkey - - 0 - - hCK, SLOS intellectual diability, microcephaly, short CC, bicusbid aortic valve, prominently elevated muscle enzymes (creatine kinase >10,000 U/l) DHCR7 DHCR7, DMD 2 2 Johan den Dunnen
00155015 private email - 2-generation family, 2 brothers, carrier mother M - United States - - 0 - - hCK no BMD/DMD symptoms, elevated CK (1,000-3,000), DNA analysis mother showed deletion DMD DMD 1 2 Johan den Dunnen
00164512 CASE_0244 PubMed: Toksoy 2019 singleton patient, no family history, mother not a carrier F - Turkey - >02y 0 - - hCK - DMD DMD 1 1 Güven Toksoy
00213689 - PubMed: Krahn 2006, OMIM:var0006 - F - Spain - - 0 - - hCK CPK elevated (HP:0003236) 10000 CAPN3 CAPN3 2 1 Johan den Dunnen
00213862 - PubMed: Fanin 2004, PubMed: Fanin 2005, PubMed: Nascimbeni 2010, OMIM:var0009 - F - Italy - - 0 - - hCK asymptomatic CAPN3 CAPN3 2 1 Marina Fanin
00213899 - Politano et al., Neuromuscul.Disord. 12: 733 - - - - - - 0 - - hCK - CAPN3 CAPN3 1 2 Johan den Dunnen
00213930 - Politano et al., Neuromuscul.Disord. 12: 733 - - - - - - 0 - - hCK - CAPN3 CAPN3 1 1 Johan den Dunnen
00213971 1324/20635405-Pat PubMed: Fanin 2004, PubMed: Fanin 2005, PubMed: Nascimbeni 2010 patient fron one region (Veneto) F - Italy - - 0 - - hCK asymptomatic CAPN3 CAPN3 2 1 Marina Fanin
00213991 - Politano et al., Neuromuscul.Disord. 12: 733 - - - - - - 0 - - hCK - CAPN3 CAPN3 1 1 Johan den Dunnen
00213992 - PubMed: Fanin 2005 + PubMed: Piluso 2005 - M - Argentina - - 0 - - hCK young, asymptomatic CAPN3 CAPN3 1 1 Marina Fanin
00213994 - PubMed: Piluso 2005 - M - Italy - - 0 - - hCK - CAPN3 CAPN3 1 1 Johan den Dunnen
00213998 2522/20635405-Pat PubMed: Fanin 2004, PubMed: Nascimbeni 2010 - M - Italy - - 0 - - hCK young, asymptomatic CAPN3 CAPN3 2 1 Marina Fanin
00214009 - PubMed: Fanin 2004 - M - Italy - - 0 - - hCK young, asymptomatic CAPN3 CAPN3 1 1 Marina Fanin
00214021 - PubMed: Piluso 2005 - M - Italy - - 0 - - hCK - CAPN3 CAPN3 1 1 Johan den Dunnen
00214024 - PubMed: Piluso 2005 - M - Italy - - 0 - - hCK - CAPN3 CAPN3 1 1 Johan den Dunnen
00214027 - PubMed: Piluso 2005 - M - Italy - - 0 - - hCK - CAPN3 CAPN3 1 1 Johan den Dunnen
00214029 - PubMed: Piluso 2005 - F - Italy - - 0 - - hCK - CAPN3 CAPN3 1 1 Johan den Dunnen
00214038 - - - - - Italy - - 0 - - hCK - CAPN3 CAPN3 1 1 Marina Fanin
00214069 Pat19 PubMed: Todorova 2007 - F - Bulgaria - >8y 0 - - hCK asymptomatic; CPK elevated (HP:0003236) 11000; still able to walk (-HP:0006957) ; still able to walk (-HP:0006957) CAPN3 CAPN3 1 1 Johan den Dunnen
00214146 - PubMed: Fanin 2004 + PubMed: Fanin 2003 - M - Italy - >16y 0 - - hCK asymptomatic; CPK elevated (HP:0003236) 3200 CAPN3 CAPN3 2 1 Marina Fanin
00214223 - PubMed: Piluso 2005 - M - Italy - - 0 - - hCK - CAPN3 CAPN3 2 1 Johan den Dunnen
00214224 - PubMed: Piluso 2005 - M - Italy - - 0 - - hCK - CAPN3 CAPN3 2 1 Johan den Dunnen
00214242 - PubMed: Fanin 2004 + PubMed: Piluso 2005 - M - Italy - - 0 - - hCK young, asymptomatic CAPN3 CAPN3 2 1 Marina Fanin
00214419 - PubMed: Richard 1999 - - - Italy white - 0 - - hCK - CAPN3 CAPN3 1 1 Johan den Dunnen
00214490 - - - - - - - - 0 - - hCK - CAPN3 CAPN3 2 1 Lorea Blazquez
00214508 16971480-Pat3 PubMed: Fanin 2007 - M - Italy - - 0 - - hCK CPK elevated (HP:0003236) CAPN3 CAPN3 2 1 Marina Fanin
00214748 - PubMed: Nascimbeni 2010 father of 7652 M - Italy - - 0 - - hCK - CAPN3 CAPN3 1 1 Marina Fanin
00215096 - PubMed: Nguyen 2007, PubMed: Krahn 2008 dysGAB F - France - - 0 - - hCK - DYSF DYSF 2 1 Johan den Dunnen
00215203 - PubMed: Cagliani 2005, PubMed: Guglieri 2007 - M - Italy - >13y 0 - - hCK asymptomatic; CPK elevated (HP:0003236) 26x DYSF DYSF 2 1 Johan den Dunnen
00215239 - PubMed: Krahn 2008 dysLE F - France - - 0 - - hCK asymptomatic at age 11y; CPK elevated (HP:0003236) 30x DYSF DYSF 3 1 Johan den Dunnen
00215290 - PubMed: Cagliani 2005, PubMed: Guglieri 2007 - F - Italy - >39y 0 - - hCK Asymptomatic; CPK elevated (HP:0003236) 1-4x DYSF DYSF 2 1 Johan den Dunnen
00215301 - PubMed: Nguyen 2005, PubMed: Nguyen 2007, PubMed: Krahn 2008 dysNI M - France - - 0 - - hCK - DYSF DYSF 4 1 Johan den Dunnen
00215392 - - - F - Germany - >40y 0 - - hCK restless legs; CPK elevated (HP:0003236) 1000 U/l DYSF DYSF 1 1 Lab Müller-Reible
00215416 15469449-F6a/B1I1 PubMed: Kawabe 2004, PubMed: Fanin 2006 father of 15469449.F6a and b; 1-I.1 in Fanin 2006 M no Italy - >65y 0 - - hCK aymptotic; progressive myopathy, active degeneration and regeneration; CPK elevated (HP:0003236) 700-8000 DYSF DYSF 2 1 Johan den Dunnen
00215438 - PubMed: Krahn 2008 2 affecteds 1 generation M - France - - 0 - - hCK - DYSF DYSF 2 1 Nicolas Levy
00215445 - PubMed: Krahn 2008 - M - France white - 0 - - hCK muscle biospy no inflammation; 10y progression, still ambulant; CPK elevated (HP:0003236) 20x; still able to walk (-HP:0006957) ; still able to walk (-HP:0006957) DYSF DYSF 1 1 Nicolas Levy
00215576 - PubMed: Krahn 2008 - F - France - - 0 - - hCK - DYSF DYSF 2 1 Johan den Dunnen
00215578 - PubMed: Krahn 2008 - F - France - - 0 - - hCK muscle biospy no inflammation; CPK elevated (HP:0003236) 25x DYSF DYSF 2 1 Johan den Dunnen
00215579 - PubMed: Krahn 2008 - F - France - - 0 - - hCK CPK elevated (HP:0003236) 20x DYSF DYSF 2 1 Johan den Dunnen
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