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疾病英文名:PARDE - Parkinson-Dementia Syndrome 疾病分类:罕见病 眼科疾病 神经精神疾病 其他别名:Progressive Supranucle…
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林奇综合症5,也称为hnpcc5,与林奇综合症1和腺癌有关。与林奇综合症5有关的一个重要基因是MSH6(MutS同源蛋白6),其相关通路/超级通路包括疾病和同源导向修复。附属组织包括结肠和小肠,相关表型包括子宫内膜癌和卵巢肿瘤。 LYNCH5 – Lynch Syndrome 5
血栓形成缺陷引起的血栓性血友病,也称为血栓调节蛋白相关出血疾病。与血栓形成缺陷引起的血栓性血友病相关的基因是THBD(血栓调节蛋白)。相关组织包括内皮组织,相关表型包括肺栓塞和深静脉血栓形成。 THPH12 – Thrombophilia Due to Thrombomodulin Defect
生长激素缺乏症,也称为孤立的生长激素缺乏症,与孤立的生长激素缺乏症,类型ib和孤立的生长激素缺乏症,类型ia有关。与生长激素缺乏症有关的重要基因是RNPC3(RNA结合区(RNP1,RRM)含3)。在该疾病的背景下,提到了药物 Tesamorelin 和 Liraglutide。附属组织包括垂体和骨骼,相关表型是内分泌/外分泌腺。 Growth Hormone Deficiency
Desmoplastic Small Round Cell Tumor, also known as desmoplastic small round-cell tumor, is related to sarcomatosis and wilms tumor 1, and has symptoms including pain. An important gene associated with Desmoplastic Small Round Cell Tumor is EWSR1 (EWS RNA Binding Protein 1), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and Mesenchymal Stem Cells and Lineage-specific Markers. The drugs Ipilimumab and Nivolumab have been mentioned in the context of this disorder. Affiliated tissues include spinal cord and small intestine, and related phenotypes are abdominal pain and sarcoma. DSRCT – Desmoplastic Small Round Cell Tumor
长QT综合征3,也称为lqt3,与长QT综合征6和布加达综合征1有关,其症状包括晕厥。与长QT综合征3有关的重要基因是SCN5A(钠电压门控通道α亚基5),其相关通路/超级通路包括cAMP依赖性PKA的激活和心脏传导。在该疾病的背景下,已提到药物Ranolazine和钠通道阻滞剂。附属组织包括心脏和内皮,相关表型为猝死和延长的QTc间期。 LQT3 – Long Qt Syndrome 3