Disease #01223

Official abbreviation CCD
Name cardiac conduction defect (CCD)
OMIM ID 115080
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 22
Phenotype entries for this disease 23
Associated with 1 gene AKAP10
Associated tissues -
Disease features -
Remarks -


Individuals

22 entries on 1 page. Showing entries 1 - 22.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00216439 - - - - - United States - - 0 - - CCD - LMNA LMNA 1 1 Soma Das
00216539 - - - M - (United States) Hispanic - 0 - - 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 0 - - 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 0 - - 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 - - 0 - - 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 0 - - 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 0 - - 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 0 - - 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 0 - - 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 0 - - 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 0 - - 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 0 - - 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 0 - - 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 0 - - 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 0 - - 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 - - 0 - - CCD - LMNA LMNA 1 2 Johan den Dunnen
00266692 - PubMed: Benson 1999 - - - - - - 0 - - CCD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266735 - PubMed: Esposito 2009 - - - - - - 0 - - CCD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266736 - PubMed: Esposito 2009 - - - - - - 0 - - CCD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266748 - PubMed: Guntheroth 2012 - - - - - - 0 - - CCD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00266777 - PubMed: Kasahara 2000 - - - - - - 0 - - CCD - NKX2-5 NKX2-5 1 1 Liliana DAIN
00267001 - PubMed: Yuan 2015 - - - - - - 0 - - ATFB, CCD, CMD, SUD - NKX2-5 NKX2-5 1 1 Liliana DAIN
Legend