Atrial standstill 2

General Information (adopted from Orphanet):

Synonyms, Signs: ATRST2
Number of Symptoms 14
OrphanetNr:
OMIM Id: 615745
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Monogenic
23275345 [IBIS]
Age of onset: Adult
23275345 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Atrial standstill
 -Rare cardiac disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (MedDRA:10053413) Atrial natriuretic peptide decreased 23275345 IBIS 1 / 7739
2
 (MedDRA:10051158) Electrocardiogram QRS complex shortened 23275345 IBIS 2 / 7739
3
 (HPO:0001962) Palpitations 23275345 IBIS 62 / 7739
4
 (HPO:0001644) Dilated cardiomyopathy 23275345 IBIS 141 / 7739
5
 (OMIM) Atrial standstill 23275345 IBIS 6 / 7739
6
 (HPO:0001907) Thromboembolism 23275345 IBIS 15 / 7739
7
 (HPO:0005115) Supraventricular arrhythmia 23275345 IBIS 13 / 7739
8
 (MedDRA:10008088) Cerebral artery embolism 6225642 IBIS 1 / 7739
9
 (HPO:0001635) Congestive heart failure 6225642 IBIS 232 / 7739
10
 (HPO:0001279) Syncope 16176547 IBIS 94 / 7739
11
 (HPO:0003115) Abnormal EKG 6225642 IBIS 44 / 7739
12
 (HPO:0001637) Abnormality of the myocardium 6225642 IBIS 76 / 7739
13
 (HPO:0005120) Abnormality of cardiac atrium 23275345 IBIS 5 / 7739
14
 (HPO:0001662) Bradycardia 6225642 IBIS 41 / 7739

Associated genes:

NPPA;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
NPPA rs202102042 pathogenic RCV000114740.2

Additional Information: