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Familial short QT syndrome
3 OMIM references -
4 associated genes
28 connected diseases
No signs/symptoms info
Disease Type of connection
Romano-Ward syndrome
Familial atrial fibrillation
Jervell and Lange-Nielsen syndrome
Cardiodysrhythmic potassium-sensitive periodic paralysis
Isolated NADH-CoQ reductase deficiency
17p13.3 microduplication syndrome
Distal 17p13.3 microdeletion syndrome
Miller-Dieker syndrome
Autosomal dominant hypohidrotic ectodermal dysplasia
Benign familial infantile seizures
Benign familial neonatal seizures
Benign familial neonatal-infantile seizures
Early infantile epileptic encephalopathy
Autosomal dominant limb-girdle muscular dystrophy type 1C
Cerebellar ataxia - hypogonadism
Essential thrombocythemia
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Huntington disease
Hyperparathyroidism - jaw tumor syndrome
Juvenile Huntington disease
Myelofibrosis with myeloid metaplasia
Parathyroid carcinoma
Rippling muscle disease
T-cell immunodeficiency with epidermodysplasia verruciformis
Catecholaminergic polymorphic ventricular tachycardia
Leigh syndrome with leukodystrophy

Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease

Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
CACNA2D1 P54289114204
KCNH2 Q12809152427
KCNJ2 P63252600681
KCNQ1 P51787607542
No signs/symptoms info available.