Atrial standstill 1

General Information (adopted from Orphanet):

Synonyms, Signs: ATRST1
Atrial cardiomyopathy with heart block
Cardiomyopathy, familial, with conduction disturbance
Number of Symptoms 10
OrphanetNr:
OMIM Id: 108770
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Age of onset:

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0005155) Ventricular escape rhythms 12522116 IBIS 4 / 7739
2
 (HPO:0001662) Bradycardia 12522116 IBIS 41 / 7739
3
 (HPO:0001279) Syncope 16176547 IBIS 94 / 7739
4
 (HPO:0006699) Premature atrial contractions 4636548 IBIS 2 / 7739
5
 (HPO:0011705) First degree atrioventricular block 4430108 IBIS 13 / 7739
6
 (HPO:0200127) Atrial cardiomyopathy 4636548 IBIS 2 / 7739
7
 (HPO:0003115) Abnormal EKG 16176547 IBIS 44 / 7739
8
 (OMIM) Atrial standstill 16176547 IBIS 6 / 7739
9
 (MedDRA:10067286) Left atrial dilatation 16176547 IBIS 10 / 7739
10
 (OMIM) Absent P waves 16188595 IBIS 3 / 7739

Associated genes:

GJA5; SCN5A;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
SCN5A rs137854618 pathogenic RCV000114992.2
SCN5A rs199473070 pathogenic RCV000114993.2

Additional Information: