About: Timothy syndrome

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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 syndrome sometimes leads to death in early childhood.

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalDominantDisorders yago:WikicatCardiogeneticDisorders yago:WikicatNeurologicalDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:AutosomalDominantDisease114162025 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Disease114070360 yago:Disorder114052403 yago:GeneticDisease114151139 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:NervousDisorder114084880 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatGeneticDisorders disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes
rdfs:label	متلازمة تيموثي (ar) Síndrome de Timothy (es) Syndrome de Timothy (fr) Síndrome de Timothy (pt) Timothy syndrome (en)
rdfs:comment	متلازمة تيموثى نادرة {1مسيطرة جسمية {/1} يتميز بالتشوهات الجسدية، فضلا عن العيوب والتنموية العصبية، بما في ذلك القلب ،اطالة كيو تي، والقلب عدم انتظام ضربات القلب، وعيوب القلب الهيكلي، ارتفاق الأصابع (حزام من أصابع اليدين والقدمين)، والتوحد اضطرابات الطيف. متلازمة تيموثى غالبا ما تنتهي بالموت المبكر. (ar) El síndrome de Timothy es una rara enfermedad congénita que afecta a diferentes órganos del cuerpo, incluyendo el corazón, sistema nervioso y dedos. Algunas de las manifestaciones más graves que provoca son arritmias cardiacas y trastornos del comportamiento similares a los que se producen en el autismo. Está causado por una mutación en el gen , el cual codifica una proteína que actúa como canal que permite el paso del calcio a través de las membranas celulares, por lo que se incluye dentro del grupo de enfermedades llamados canalopatías, en las que está afectado algunos de los canales iónicos que permiten la entrada y salida de la célula de los iones sodio, potasio o calcio. El nombre de la afección proviene del médico que realizó su descripción en el año 1989. (es) Le syndrome de Timothy est une canalopathie très rare puisque seulement 15 cas confirmés dans le monde sont actuellement connues dont 10 cas décédés. Cette maladie génétique est une maladie impliquant plusieurs organes et associant des troubles de la conduction cardiaque et des cardiopathies congénitales, ainsi que des syncopes, et tachycardie et bradycardie a haut niveau provoquant des fibrillations ventriculaire. L'espérance de vie est très réduite (inférieure à 3 ans) en l'absence de prise en charge. (fr) 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 syndrome sometimes leads to death in early childhood. (en) A Síndrome de Timothy é um transtorno autossômico dominante (herança monogênica não ligada ao sexo) raro caracterizado por malformações físicas, assim como defeitos neurológicos e de desenvolvimento, inclusive prolongamento do intervalo QT no coração, arritmias cardíacas, sindactilia (união entre dedos dos pés e das mãos) e transtornos do espectro do autismo. Frequentemente termina em morte na primeira infância. (pt)
foaf:name	Timothy syndrome (en)
name	Timothy syndrome (en)
foaf:depiction
dcterms:subject	Syndromes affecting the heart Cardiogenetic disorders Rare diseases Autosomal dominant disorders Channelopathies Neurological disorders
Wikipage page ID	1092527 (xsd:integer)
Wikipage revision ID	1124645119 (xsd:integer)
Link from a Wikipage to another Wikipage	Caesarean section Calcium Cardiac action potential Propranolol Mutation Mosaicism Depolarization Syndromes affecting the heart Membrane potential Glycine Calcium channel Autism Autosomal dominant Amino acid Cardiogenetic disorders ECG Cav1.2 Tooth enamel Rare diseases Heart arrhythmia Artificial pacemaker Autosomal dominant disorders Channelopathies Neurological disorders LQTS Syndactyly Long QT syndrome Neurological Beta adrenergic receptor Dental cavities
Link from a Wikipage to an external page	https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi%3Fbook=gene&part=timothy
sameAs	Timothy syndrome Timothy syndrome Timothy syndrome Timothy syndrome Timothy syndrome Timothy syndrome Timothy syndrome Timothy syndrome Timothy syndrome Timothy syndrome
dbp:wikiPageUsesTemplate	dbt:Citation_needed dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Sfrac dbt:Channelopathy

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