Timothy syndrome
Sign in to saveAlso known as long QT syndrome 8, LQT8, Long QT syndrome-syndactyly syndrome, TIMOTHY SYNDROME; TS, TS, Long QT syndrome type 8, Long Qt Syndrome With Syndactyly
autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features; the two forms are type 1 (classic) and type 2, a rare form that has material basis in mutations in a transcript variant of CACNA1C
In the Vinony graph
Vinony's link graph records 332 inbound references to Timothy syndrome, and connects out to autism, neurology and heart arrhythmia.
It sits within the topics Autosomal dominant disorders, Cardiogenetic disorders and Channelopathies.
Vinony links it to 10 Wikipedia language editions.
Research
214 papers- Timothy syndrome iPSC modeling.Molecular and cellular neurosciences · 2020
- Antisense oligonucleotide therapeutic approach for Timothy syndrome.Nature · 2024
- A Natural History Study of Timothy Syndrome.Orphanet journal of rare diseases · 2024
- Update on the Molecular Genetics of Timothy Syndrome.Frontiers in pediatrics · 2021
- Current updates on arrhythmia within Timothy syndrome: genetics, mechanisms and therapeutics.Expert reviews in molecular medicine · 2023
via PubMed
Wikidata facts
- Subclass of
- syndrome
Show 7 more facts
- exact match
- identifiers.org/doid/DOID:0110649
- on focus list of Wikimedia project
- WikiProject Medicine
- health specialty
- neurology
- symptoms and signs
- ventricular fibrillation
- NCI Thesaurus ID
- C142894
- genetic association
- CACNA1C
- Commons category
- Timothy syndrome
via Wikidata · CC0
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