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Timothy syndrome
1 OMIM reference -
1 associated gene
15 connected diseases
No signs/symptoms info
Disease Type of connection
Brugada syndrome
Catecholaminergic polymorphic ventricular tachycardia
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Dehydratase deficiency
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Cone rod dystrophy
2q37 microdeletion syndrome
Synonym(s):
- LQT8
- Long QT syndrome - syndactyly
- Long QT syndrome type 8
Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the circulatory system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C536962
Gene symbol UniProt reference OMIM reference
CACNA1C Q13936114205
No signs/symptoms info available.