SHORT QT SYNDROME 2

General Information (adopted from Orphanet):

Synonyms, Signs: SQT2
Number of Symptoms 5
OrphanetNr:
OMIM Id: 609621
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:0001645) Sudden cardiac death 15890322 IBIS 84 / 7739
2
 (HPO:0012232) Shortened QT interval 15890322 IBIS 7 / 7739
3
 (HPO:0005110) Atrial fibrillation 15890322 IBIS 71 / 7739
4
 (HPO:0001279) Syncope 15890322 IBIS 94 / 7739
5
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bellocq et al. (2004) reported a 70-year-old man who was successfully resuscitated after an episode of ventricular fibrillation. A short QT interval on a subsequent ECG (290 ms) and on every ECG through 3 years of follow-up was ...
Molecular genetics OMIM In a 70-year-old man with short QT syndrome who survived an episode of ventricular fibrillation, Bellocq et al. (2004) identified a missense mutation in the KCNQ1 gene (607542.0037).

Schimpf et al. (2005) reviewed the clinical, electrophysiologic, ...