About: CDK13-related disorder

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CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD), is a very rare autosomal dominant genetic condition characterised by congenital heart defects, intellectual disability and characteristic facial features. Those affected typically have motor and language delays, low muscle tone and gastrointestinal dysmotility. Facial features include a wide nasal bridge, widely-spaced eyes, prominent, low-set ears, a flat nose tip and a small mouth. Less common features include congenital spinal abnormalities, hearing loss or seizures.

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rdf:type	Thing Disease disease
rdfs:label	الاضطراب المرتبط بجين CDK13 (ar) CDK13-related disorder (en) Gangguan terkait CDK13 (in) CDK13相关疾病 (zh)
rdfs:comment	CDK13相关疾病（英語：CDK13-related disorder），又称先天性心脏病、面部异常及智力障碍相关疾病（英語：Congenital heart defects, dysmorphic facial features and intellectual developmental disorder, CHDFIDD），是一种非常罕见的常染色体显性遗传疾病，其特征为先天性心脏病、智力障碍和面容异常。受影响者通常有运动和语言发展迟缓、和胃肠运动障碍。面部特征包括宽鼻梁、、眼裂小、低位耳、人中异常和小嘴。较不常见的特征包括、或癫痫发作。该综合征是由编码蛋白细胞周期蛋白依赖激酶13的基因突变引起的。细胞周期蛋白依赖性激酶是蛋白激酶，对调节细胞分化的DNA转录至关重要。CDK13促进参与各种发育过程的基因表达，当基因突变时，这些过程被破坏或未完成。当基因检测证实CDK13突变时，即可诊断出该综合征。通常对症治疗。药物治疗可用于治疗胃肠运动障碍，严重情况下可进行。尽早进行言语治疗或使用可以帮助语言发展。由于缺乏已知的患者，预后尚不明确，但已经确定了一些成年中期的患者。截至2019年1月，已确定并研究了至少44名患有该疾病的患者。2016年的一项队列研究首次将CDK13突变确定为致病性，Bostwick等人首次概述了该疾病。2017年，他们还将其命名为CHDFID。 (zh) الاضطراب المرتبط بـ CDK13 ، والذي يعرف أيضًا باسم عيوب القلب الخلقية، وتشوه ملامح الوجه واضطراب النمو الفكري (CHDFIDD)، هو حالة وراثية سائدة ونادرة تتميز بعيوب خلقية في القلب وإعاقة ذهنية وملامح وجه مميزة. يعاني المصابون عادةً من تأخيرات في الحركة واللغة، نقص التوتر العضلي، وخلل الحركة في الجهاز الهضمي. وتشمل ميزات الوجه جسر أنفي عريض وعينين متباعدتين وأذنين بارزتين ومنخفضتين ونهاية أنف مسطّحة وفم صغير. تشمل السمات الأقل شيوعًا وفقدان السمع أو النوبات. يتم تشخيص المتلازمة عندما تؤكد الاختبارات الجينية حدوث طفرة فيCDK13 . (ar) CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD), is a very rare autosomal dominant genetic condition characterised by congenital heart defects, intellectual disability and characteristic facial features. Those affected typically have motor and language delays, low muscle tone and gastrointestinal dysmotility. Facial features include a wide nasal bridge, widely-spaced eyes, prominent, low-set ears, a flat nose tip and a small mouth. Less common features include congenital spinal abnormalities, hearing loss or seizures. (en) Gangguan terkait CDK13, juga dikenal sebagai kelainan jantung bawaan, fitur wajah dismorfik, dan gangguan perkembangan intelektual (congenital heart defects, dysmorphic facial features and intellectual developmental disorder, CHDFIDD), adalah penyakit genetik dominan autosomal yang sangat langka yang ditandai dengan penyakit jantung bawaan, kelainan intelektual, dan fitur wajah yang khas. Mereka yang terkena biasanya memiliki keterlambatan motorik dan bahasa, tonus otot yang rendah, dan dismotilitas gastrointestinal. Fitur wajah termasuk jembatan hidung yang lebar, mata lebar, telinga menonjol, ujung hidung datar, dan mulut kecil. Fitur yang kurang umum termasuk kelainan tulang belakang bawaan, gangguan pendengaran, atau kejang. (in)
foaf:depiction
dcterms:subject	Rare genetic syndromes Syndromes affecting the heart Syndromes affecting head size Syndromes affecting the gastrointestinal tract Syndromes affecting bones Syndromes affecting the nervous system
Wikipage page ID	62480334 (xsd:integer)
Wikipage revision ID	1092816391 (xsd:integer)
Link from a Wikipage to another Wikipage	Scoliosis Elective genetic and genomic testing Aplasia Cardiac muscle cell Prokinetic agent Protein phosphorylation Rare genetic syndromes Syndromes affecting the heart Gene expression Low-set ears Telecanthus Embryonic development Gastrostomy Gene Myosin Congenital vertebral anomaly Conserved sequence Constipation RNA polymerase II Protein kinases Strabismus Microstomia Autism spectrum disorder Autosomal dominant Agenesis of the corpus callosum Transcription (biology) Hearing loss Amino acid Syndromes affecting head size Syndromes affecting the gastrointestinal tract Syndromes affecting bones Cell cycle Kabuki syndrome Knockout mouse Protein Syndromes affecting the nervous system Hypertelorism dbr:Asparagine Aspartic acid Atrial septal defect Augmentative and alternative communication Whole exome sequencing CDK13 DNA transcription Microcephaly Okamoto syndrome Cerebellar vermis Seizures Serine Spina bifida Ventricular septal defect Congenital heart defects Missense mutations Sensorineural hearing loss Sanger sequencing Protein kinase domain Ear infections Myocardium Epicanthic folds Dysautonomic Cell differentiation Gastroesophageal reflux Gastrointestinal dysmotility Low muscle tone Ventricular septal defects Cyclin-dependent kinases Trouble swallowing
sameAs	CDK13-related disorder CDK13-related disorder CDK13-related disorder CDK13-related disorder CDK13-related disorder
dbp:wikiPageUsesTemplate	dbt:As_of dbt:Good_article dbt:Infobox_medical_condition_(new) dbt:Medical_resources

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