WebFeb 15, 2006 · The first identified CACNA1C-related disorder, referred to as Timothy syndrome, consists of the combination of prolonged QT interval, autism, and … Timothy syndrome is a rare autosomal-dominant disorder characterized by physical malformations, as well as neurological and developmental defects, including heart QT-prolongation, heart arrhythmias, structural heart defects, syndactyly (webbing of fingers and toes), and autism spectrum disorders. Timothy … See more The most striking sign of Timothy syndrome type 1 is the co-occurrence of both syndactyly (about 0.03% of births) and long QT syndrome (1% per year) in a single patient. Other common symptoms include cardiac See more Syndactyly and other deformities are typically observed and diagnosed at birth. Long QT syndrome sometimes presents itself as a complication due to surgery to correct syndactyly. … See more The prognosis for patients diagnosed with Timothy syndrome is very poor. Of 17 children analyzed in one study, 10 died at an average age of 2.5 years. Of those that did survive, three were diagnosed with autism, one with an autism spectrum disorder, and the … See more There are two recognized types of Timothy syndrome, classical (type-1) and a second type (type-2). They are both caused by mutations in CACNA1C, the gene encoding the calcium channel Cav1.2 α subunit. Timothy syndrome mutations in CACNA1C cause delayed … See more Surgery is typically used to correct structural heart defects and syndactyly. Propranolol or other beta-adrenergic blockers are often prescribed, as well as insertion of a See more Some of the abnormalities observed in Timothy syndrome were described in the 1990s. However, it was linked with calcium channel abnormalities in 2004, and the disorder … See more • GeneReview/NCBI/NIH/UW entry on Timothy Syndrome See more
Aicardi-Goutières综合征（AGS）是怎样一种疾病？ - LDConnect.cn
WebMar 24, 2024 · Introduction. Timothy syndrome (TS) is an extremely rare multisystem disorder caused by a de novo mutation in the alternatively spliced exon 8A affecting … WebJan 9, 2024 · ags一般以常染色体隐性模式遗传，大多数由adar、trex1、rnaseh2a、rnaseh2b、rnaseh2c和samhd1复合杂合基因（或纯合基因）突变引起。 dr sameer baig palm coast
Clinical utility gene card for: Long-QT syndrome - Nature
WebTimothy syndrome is a disorder that affects the heart, digits (toes and fingers), and nervous system (brain and nerves). It is a type of long QT syndrome. Long QT syndrome refers to … Websyndrome翻译：併發症，症候群，綜合症狀, （用於多種病名中）症候群, （特定情形下人的）典型負面特徵，典型負面表現 ... http://www.gyypt.com/lm-1/lm-4/135689.html dr sameer chawla raleigh nc