SHORT QT SYNDROME 3

General Information (adopted from Orphanet):

Synonyms, Signs: SQT3
Number of Symptoms 4
OrphanetNr:
OMIM Id: 609622
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:0001649) Tachycardia 15761194 IBIS 53 / 7739
2
(HPO:0001962) Palpitations 15761194 IBIS 62 / 7739
3
(HPO:0012232) Shortened QT interval 15761194 IBIS 7 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Priori et al. (2005) reported an asymptomatic 5-year-old girl who was found to have an abnormal ECG on routine clinical evaluation, with a markedly short repolarization time and conspicuously narrow and peaked T waves (QTc interval, 315 ms). ...
Molecular genetics OMIM In a 5-year-old girl and her father who had short QT intervals and asymmetric T waves on ECG and who were negative for mutations in the 2 genes previously associated with short QT syndrome, KCNH2 and KCNQ1, Priori ...