Disease #01273 (hCK (hyperCKemia (hCK, elevated serum creatine phosphokinase)), OMIM:123320)

Official abbreviation hCK
Name hyperCKemia (hCK, elevated serum creatine phosphokinase)
OMIM ID 123320
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 229
Phenotype entries for this disease 277
Associated with 2 genes CAV3, DMD
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

229 entries on 3 pages. Showing entries 1 - 100.
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00078801 - PubMed: Witting 2012 2-generation family, affected male M - Denmark - - - - - 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 - - - - - 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 - - - - - hCK raised CPK (HP:0003236) 4000; >39y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078821 - PubMed: Wahbi 2012 - M - France - - - - - hCK raised CPK (HP:0003236) 3138; >21y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078822 - PubMed: Wahbi 2012 - M - France - - - - - hCK raised CPK (HP:0003236) 4145; >34y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078829 - PubMed: Wahbi 2012 - M - France - - - - - hCK raised CPK (HP:0003236) 3131; >42y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078830 - PubMed: Wahbi 2012 - F - France - - - - - hCK raised CPK (HP:0003236) 4898; >47y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078836 - PubMed: Sarkozy 2012 - M - France - - - - - hCK raised CPK (HP:0003236) 4000; >39y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078839 - PubMed: Sarkozy 2012 - F - Germany - - - - - hCK raised CPK (HP:0003236) 3300-5400; >19y walking (-HP:0006957) ANO5 ANO5 2 1 Johan den Dunnen
00078845 - PubMed: Penttila 2012 - F - Finland - - - - - hCK raised CPK (HP:0003236) 3000-4000 ANO5 ANO5 2 1 Johan den Dunnen
00078846 - PubMed: Penttila 2012 - F - Finland - - - - - hCK raised CPK (HP:0003236) 3000-4000 ANO5 ANO5 2 1 Johan den Dunnen
00078862 - PubMed: Schessl 2012 - M - Germany - - - - - 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 - - - - - 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 - - - - - hCK myopathyathy;hCK; CPK 891 CAV3 CAV3 1 4 Johan den Dunnen
00108227 - PubMed: Reijneveld 2006 - ? - Netherlands - - - - - hCK - CAV3 CAV3 1 1 Johan den Dunnen
00108229 - PubMed: Alias mother and brother carrier; discovered from routine blood test ? - Spain - - - - - hCK persistent highCK levels; CPK 981 (mother 1968) CAV3 CAV3 1 3 Johan den Dunnen
00108232 - - - ? - France - - - - - hCK cramps, stiffness and myalgia CAV3 CAV3 1 1 Nicolas Levy
00108242 - PubMed: Reijneveld 2006 - ? - Netherlands - - - - - hCK - CAV3 CAV3 1 1 Johan den Dunnen
00108246 - - carrier father has isolated hCK ? - France - - - - - hCK cramps, stiffness and weakness CAV3 CAV3 1 1 Nicolas Levy
00108253 - PubMed: Carbone, OMIM:var0007 - M - Italy - - - - - hCK CPK ~1060 CAV3 CAV3 1 1 Johan den Dunnen
00108259 - PubMed: Carbone, OMIM:var0007 - F - Italy - - - - - hCK CPK ~630 CAV3 CAV3 1 1 Johan den Dunnen
00108262 - PubMed: Fulizio, OMIM:var0007 mother carrier M - Italy - - - - - hCK CPK 8500 CAV3 CAV3 1 2 Johan den Dunnen
00108267 - PubMed: Merlini, PubMed: Capanni, OMIM:var0012 mother and son M;F - Italy - - - - - hCK no muscle weakness; CPK 2600;550 CAV3 CAV3 1 2 Johan den Dunnen
00108280 - Politano et al., Neuromuscul.Disord. 12: 733 - - - - - - - - - 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 - - - hCK CPK 900IU/l CAV3 CAV3 1 4 Johan den Dunnen
00108442 - PubMed: Traverso 2008 father 18487559-Pat1 M - Italy - - - - - hCK calf hypertrophy CAV3 CAV3 1 1 Johan den Dunnen
00133369 - PubMed: Mongini - M - Italy - - - - - hCK easy fatigability; 500-1500 elevated CPK (HP:0003236) SGCA SGCA 2 1 Johan den Dunnen
00133394 - PubMed: Carrie 1997 - F no France - >54y - - - 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 - - - - - hCK benign; tiredness; 700-2000 elevated CPK (HP:0003236) SGCA SGCA 2 1 Johan den Dunnen
00133512 - - - M ? Italy - - - - - hCK - SGCA SGCA 2 1 Marina Fanin
00133514 - - - F ? (Italy) white - - - - hCK - SGCA SGCA 1 1 Marina Fanin
00133595 - Politano et al., Neuromuscul.Disord. 12: 733 - - - - - - - - - hCK - SGCA SGCB 1 2 Johan den Dunnen
00134011 - - - F - (Italy) white - - - - hCK - SGCG SGCG 1 1 Marina Fanin
00136261 - PubMed: Gospe - M - - - - - - - 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 - - - - - 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) - - - - - hCK elevated serum CPK (HP:0003236) 2950 DMD DMD 1 1 Johan den Dunnen
00137917 - PubMed: Comi analysis 59 BMD cases M - Italy - - - - - hCK - DMD DMD 1 1 Johan den Dunnen
00141243 - - - F - Australia - - - - - 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 - - - - - hCK - DMD DMD 1 1 L. Lukovic
00142386 - Bovolenta, in press - M - Italy - - - - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142422 - - - M - Italy - - - - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142478 - - - M - Italy - - - - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142479 - - - M - Italy - - - - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142503 - PubMed: Wein 2014 - M no Italy - - - - - 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 - - - - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142529 - - - M - Italy - - - - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142565 - - - M - Italy - - - - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142595 - - - M - Italy - - - - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142603 - - - M - Italy - - - - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142614 - - - F - Italy - - - - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142616 - - - F - Italy - - - - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142621 - - - M - Italy - - - - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142644 - - - M - Italy - - - - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142645 - - - F - Italy - - - - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142683 - - - M - Italy - - - - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142709 - PubMed: Gualandi 2009, Bovolenta, in press Pat21 M - Italy - - - - - hCK unknown loss ability to walk (?HP:0006957) >18y DMD DMD 1 1 Alessandra Ferlini
00142710 - - - M - Italy - - - - - hCK - DMD DMD 1 1 Alessandra Ferlini
00142997 - - - M - Yugoslavia - - - - - hCK - DMD DMD 1 1 Jovan Pesović
00142999 - - - M - Yugoslavia - - - - - hCK - DMD DMD 1 1 Jovan Pesović
00146565 N3133 Politano et al., Neuromuscul.Disord. 12: 733 - - - - - - - - - hCK - FKRP FKRP 1 1 Johan den Dunnen
00146757 N2014 Politano et al., Neuromuscul.Disord. 12: 733 - - - - - - - - - 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 - - - - - 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 contact me for details 2-generation family, 2 brothers, carrier mother M - United States - - - - - 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 - - - hCK - DMD DMD 1 1 Güven Toksoy
00213689 - PubMed: Krahn 2006, OMIM:var0006 - F - Spain - - - - - 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 - - - - - hCK asymptomatic CAPN3 CAPN3 2 1 Marina Fanin
00213899 - Politano et al., Neuromuscul.Disord. 12: 733 - - - - - - - - - hCK - CAPN3 CAPN3 1 2 Johan den Dunnen
00213930 - Politano et al., Neuromuscul.Disord. 12: 733 - - - - - - - - - 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 - - - - - hCK asymptomatic CAPN3 CAPN3 2 1 Marina Fanin
00213991 - Politano et al., Neuromuscul.Disord. 12: 733 - - - - - - - - - hCK - CAPN3 CAPN3 1 1 Johan den Dunnen
00213992 - PubMed: Fanin 2005 + PubMed: Piluso 2005 - M - Argentina - - - - - hCK young, asymptomatic CAPN3 CAPN3 1 1 Marina Fanin
00213994 - PubMed: Piluso 2005 - M - Italy - - - - - hCK - CAPN3 CAPN3 1 1 Johan den Dunnen
00213998 2522/20635405-Pat PubMed: Fanin 2004, PubMed: Nascimbeni 2010 - M - Italy - - - - - hCK young, asymptomatic CAPN3 CAPN3 2 1 Marina Fanin
00214009 - PubMed: Fanin 2004 - M - Italy - - - - - hCK young, asymptomatic CAPN3 CAPN3 1 1 Marina Fanin
00214021 - PubMed: Piluso 2005 - M - Italy - - - - - hCK - CAPN3 CAPN3 1 1 Johan den Dunnen
00214024 - PubMed: Piluso 2005 - M - Italy - - - - - hCK - CAPN3 CAPN3 1 1 Johan den Dunnen
00214027 - PubMed: Piluso 2005 - M - Italy - - - - - hCK - CAPN3 CAPN3 1 1 Johan den Dunnen
00214029 - PubMed: Piluso 2005 - F - Italy - - - - - hCK - CAPN3 CAPN3 1 1 Johan den Dunnen
00214038 - - - - - Italy - - - - - hCK - CAPN3 CAPN3 1 1 Marina Fanin
00214069 Pat19 PubMed: Todorova 2007 - F - Bulgaria - >8y - - - 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 - - - hCK asymptomatic; CPK elevated (HP:0003236) 3200 CAPN3 CAPN3 2 1 Marina Fanin
00214223 - PubMed: Piluso 2005 - M - Italy - - - - - hCK - CAPN3 CAPN3 2 1 Johan den Dunnen
00214224 - PubMed: Piluso 2005 - M - Italy - - - - - hCK - CAPN3 CAPN3 2 1 Johan den Dunnen
00214242 - PubMed: Fanin 2004 + PubMed: Piluso 2005 - M - Italy - - - - - hCK young, asymptomatic CAPN3 CAPN3 2 1 Marina Fanin
00214419 - PubMed: Richard 1999 - - - Italy white - - - - hCK - CAPN3 CAPN3 1 1 Johan den Dunnen
00214490 - - - - - - - - - - - hCK - CAPN3 CAPN3 2 1 Lorea Blazquez
00214508 16971480-Pat3 PubMed: Fanin 2007 - M - Italy - - - - - hCK CPK elevated (HP:0003236) CAPN3 CAPN3 2 1 Marina Fanin
00214748 - PubMed: Nascimbeni 2010 father of 7652 M - Italy - - - - - hCK - CAPN3 CAPN3 1 1 Marina Fanin
00215096 - PubMed: Nguyen 2007, PubMed: Krahn 2008 dysGAB F - France - - - - - hCK - DYSF DYSF 2 1 Svetlana Gorokhova
00215203 - PubMed: Cagliani 2005, PubMed: Guglieri 2008 - M - Italy - >13y - - - hCK asymptomatic; CPK elevated (HP:0003236) 26x DYSF DYSF 2 1 Johan den Dunnen
00215239 - PubMed: Krahn 2008 dysLE F - France - - - - - hCK asymptomatic at age 11y; CPK elevated (HP:0003236) 30x DYSF DYSF 3 1 Svetlana Gorokhova
00215290 - PubMed: Cagliani 2005, PubMed: Guglieri 2008 - F - Italy - >39y - - - 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 - - - - - hCK - DYSF DYSF 4 1 Svetlana Gorokhova
00215392 - - - F - Germany - >40y - - - 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 - - - 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 - - - - - hCK - DYSF DYSF 2 1 Svetlana Gorokhova
00215445 - PubMed: Krahn 2008 - M - France white - - - - 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 Svetlana Gorokhova
00215576 - PubMed: Krahn 2008 - F - France - - - - - hCK - DYSF DYSF 2 1 Svetlana Gorokhova
00215578 - PubMed: Krahn 2008 - F - France - - - - - hCK muscle biospy no inflammation; CPK elevated (HP:0003236) 25x DYSF DYSF 2 1 Svetlana Gorokhova
00215579 - PubMed: Krahn 2008 - F - France - - - - - hCK CPK elevated (HP:0003236) 20x DYSF DYSF 2 1 Svetlana Gorokhova
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