CARDIAC CONDUCTION DEFECTSUDDEN CARDIAC DEATH, INCLUDED

General Information (adopted from Orphanet):

Synonyms, Signs: SCD, INCLUDED
FAMILIAL SUDDEN DEATH, INCLUDED
Number of Symptoms 6
OrphanetNr:
OMIM Id: 115080
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001279) Syncope 94 / 7739
2
(HPO:0011675) Arrhythmia 226 / 7739
3
(HPO:0001699) Sudden death 34 / 7739
4
(OMIM) Progressive atrial conduction defect 1 / 7739
5
(OMIM) Fatty and mononuclear cell infiltration in the atrioventricular conduction system and the main left bundle branch 1 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Green et al. (1969) described a family in which sudden death occurred in at least 10 persons in 3 generations at an average age of 21 years (range 4-44). No clinical abnormalities were detectable in members of the ...
Molecular genetics OMIM Tingley et al. (2007) characterized the cardiac cycle and AKAP10 I646V genotype (604694.0001) of 122 participants in the Heart and Soul Study who had stable coronary heart disease and found that the 646V variant was associated with markers ...