Disease #01223 (CCD (cardiac conduction defect (CCD)), OMIM:115080)

Official abbreviation CCD
Name cardiac conduction defect (CCD)
OMIM ID 115080
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 28
Phenotype entries for this disease 29
Associated with 2 genes AKAP10, POPDC2
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

28 entries on 1 page. Showing entries 1 - 28.
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00216439 - - - - - United States - - - - - CCD - LMNA LMNA 1 1 Soma Das
00216539 - - - M - (United States) Hispanic - - - - CCD LV hypertrophy, arrhythmia, distal weakness ; CPK elevated (HP:0003236) LMNA LMNA 1 1 Tom Winder
00216557 19768759-II:5 PubMed: Fatkin 1999, PubMed: Carboni 2009, OMIM:var0005 4-generation family FamD in Fatkin 1999 M - Italy - 50y - - - CCD deceased; CPK 12 LMNA LMNA 1 1 Johan den Dunnen
00216561 19768759-III:7 PubMed: Fatkin 1999, PubMed: Carboni 2009, OMIM:var0005 4-generation family FamD in Fatkin 1999 M - Italy - 57y - - - CCD no peripheral neuropathy; 45y-lipodystrophy, lack ofsubcutaneous fat tissue; no diabetes; deceased; CPK 83-111 LMNA LMNA 1 1 Johan den Dunnen
00216562 19768759-IV:2 PubMed: Fatkin 1999, PubMed: Carboni 2009, OMIM:var0005 4-generation family FamD in Fatkin 1999 F - Italy - - - - - CCD no peripheral neuropathy; adolescence lipodystrophy, generalized reduction subcutaneous fat tissue; no diabetes LMNA LMNA 1 1 Johan den Dunnen
00216565 19882644-FamI-II.11 PubMed: Carboni 2008 4 generation family M - Italy - >42y - - - CCD no muscle weakness; biatrial enlargement; no contractures; MRI muscle abnormalities mild to severe LMNA LMNA 1 1 Johan den Dunnen
00216567 19882644-FamI-II.5 PubMed: Carboni 2008 4 generation family M - Italy - >52y - - - CCD no muscle weakness; biatrial enlargement; no contractures; MRI muscle abnormalities mild to severe LMNA LMNA 1 1 Johan den Dunnen
00216568 19882644-FamI-II.7 PubMed: Carboni 2008 4 generation family F - Italy - >46y - - - CCD no muscle weakness; left atrium dilation; no contractures; MRI muscle abnormalities mild to modeate LMNA LMNA 1 1 Johan den Dunnen
00216569 19882644-FamI-III.2 PubMed: Carboni 2008 4 generation family F - Italy - >23y - - - CCD no muscle weakness; no contractures; MRI muscle abnormalities absent to mild LMNA LMNA 1 1 Johan den Dunnen
00216570 19882644-FamI-III.6 PubMed: Carboni 2008 4 generation family F - Italy - >32y - - - CCD no muscle weakness; no contractures; MRI muscle abnormalities mild to modeate LMNA LMNA 1 1 Johan den Dunnen
00216574 19882644-FamIV-IV.10 PubMed: Carboni 2009 large family, 9 affecteds F - Italy - >53y - - - CCD no muscle weakness; no contractures; MRI muscle abnormalities moderate to absent LMNA LMNA 1 1 Johan den Dunnen
00216577 19882644-FamIV-V.11 PubMed: Carboni 2009 large family, 9 affecteds M - Italy - >31y - - - CCD no muscle weakness; no contractures; MRI muscle abnormalities absent to mild LMNA LMNA 1 1 Johan den Dunnen
00216578 19882644-FamIV-V.12 PubMed: Carboni 2009 large family, 9 affecteds M - Italy - >20y - - - CCD no muscle weakness; no contractures; MRI muscle abnormalities absent to modeate LMNA LMNA 1 1 Johan den Dunnen
00216579 19882644-FamIV-V.4 PubMed: Carboni 2009 large family, 9 affecteds F - Italy - >40y - - - CCD no muscle weakness; no contractures; MRI muscle abnormalities absent to mild LMNA LMNA 1 1 Johan den Dunnen
00216581 19882644-FamIV-V.9 PubMed: Carboni 2009 large family, 9 affecteds M - Italy - >37y - - - CCD no muscle weakness; no contractures LMNA LMNA 1 1 Johan den Dunnen
00216694 18035086-FamD PubMed: van Tintelen 2007 3-generation family, 2 affecteds - - Netherlands - - - - - CCD - LMNA LMNA 1 2 Johan den Dunnen
00266692 - PubMed: Benson 1999 - - - - - - - - - CCD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266735 - PubMed: Esposito 2009 - - - - - - - - - CCD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266736 - PubMed: Esposito 2009 - - - - - - - - - CCD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266748 - PubMed: Guntheroth 2012 - - - - - - - - - CCD - NKX2-5 NKX2-5 1 1 Liliana Dain
00266777 - PubMed: Kasahara 2000 - - - - - - - - - CCD - NKX2-5 NKX2-5 1 1 Liliana Dain
00267001 - PubMed: Yuan 2015 - - - - - - - - - ATFB, CCD, CMD, SUD - NKX2-5 NKX2-5 1 1 Liliana Dain
00466008 FamAPatII3 PubMed: Nicastro 2025, Journal: Nicastro 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes - - - - - - CCD see paper; ..., palpitations; no cardiac arrest; sinus pauses (3 s); AV conduction disease second atrioventricular block (type 1); atrial fibrillation, flutter; monomorphic non-sustained ventricular tachycardia, premature ventricular contractions; hypertrophic cardiomyopathy; cardiac MRI septal hypertrophy (23 mm); no myocarditis - POPDC2 1 1 Johan den Dunnen
00466009 FamBPatII4 PubMed: Nicastro 2025, Journal: Nicastro 2025 2-generation family, affected sister/brother, unaffected parents/relatives M yes - - - - - - CCD see paper; ..., palpitations; sinus bradycardia; AV conduction disease PQ time of 200 ms second atrioventricular block; no atrial arrhythmia; no ventricular arrhythmia; hypertrophic cardiomyopathy; cardiac MRI septal hypertrophy (16mm); no myocarditis - POPDC2 1 2 Johan den Dunnen
00466010 FamCPatII1 PubMed: Nicastro 2025, Journal: Nicastro 2025 2-generation family, 3 affected brothers, unaffected heterozygous carrier parents/relatives M no - - - - - - CCD see paper; ..., no cardiac arrest; no sinus node disease; first and second atrioventricular block (type 1 and 2:1); atrial fibrillation, flutter; monomorphic non-sustained ventricular tachycardia; no hypertrophic cardiomyopathy; no myocarditis - POPDC2 1 3 Johan den Dunnen
00466011 FamCPatII2 PubMed: Nicastro 2025, Journal: Nicastro 2025 brother M no - - - - - - CCD see paper; ..., no cardiac arrest; SA-block sinus pauses (5s); AV conduction disease first atrioventricular block; no atrial arrhythmia; no ventricular arrhythmia; no hypertrophic cardiomyopathy; no myocarditis - POPDC2 1 1 Johan den Dunnen
00466012 FamCPatII3 PubMed: Nicastro 2025, Journal: Nicastro 2025 brother M no - - - - - - CCD see paper; ..., cardiac arrest; cardiac arrest following bradycardia; SA block sinus arrest; AV conduction disease first and second atrioventricular block (type 1); episodes of high atrial rate; monomorphic non-sustained ventricular tachycardia; no hypertrophic cardiomyopathy; cardiac MRI possible myocarditis; possible myocarditis - POPDC2 1 1 Johan den Dunnen
00466013 FamDPatII1 PubMed: Nicastro 2025, Journal: Nicastro 2025 2-generation family, 1 affected, unaffected heterozygous carrier mother M no - - - - - - CCD see paper; ..., chest pain; cardiac arrest following bradycardia; no sinus node disease; AV conduction disease first atrioventricular block; no atrial arrhythmia; ventricular tachycardia; no hypertrophic cardiomyopathy; cardiac MRI significant LV fibrosis, inflammation; clinical myocarditis (not on cardiac histology) - POPDC2 2 1 Johan den Dunnen
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