热门标签:
疾病英文名:VARIX - Varicose Veins 疾病分类:非罕见病 血液系统疾病 心血管疾病 其他别名:Varices Venous Ectasia Venous Var…
免费咨询基因检测相关问题
机械性斜视,也称为斜视,与格雷夫斯病1和格雷夫斯病有关,其症状包括眼肌麻痹、联合凝视痉挛和分歧异常。与机械性斜视有关的重要基因是TPO(甲状腺过氧化物酶),其相关通路/超级通路包括甲状腺素(甲状腺激素)的产生。在该疾病的背景下,已提到的药物有阿曲库铵和异氟烷。附属组织包括眼睛和甲状腺。 Mechanical Strabismus
青少年相关性家族性抽搐,表现为血清肌酸激酶浓度升高和肌肉异常 Cramps, Familial Adolescent
Chd8-相关神经发育障碍伴过度生长与注意力缺陷多动障碍和自闭症谱系障碍有关。相关组织包括大脑。 Chd8-Related Neurodevelopmental Disorder with Overgrowth
Enterobiasis, also known as pinworm infection, is related to strongyloidiasis and ascaris lumbricoides infection, and has symptoms including fever and pruritus. An important gene associated with Enterobiasis is STH (Saitohin), and among its related pathways/superpathways are RAF/MAP kinase cascade and Signaling by WNT. The drug Lithium carbonate has been mentioned in the context of this disorder. Affiliated tissues include appendix and liver, and related phenotypes are hearing/vestibular/ear and digestive/alimentary. Enterobiasis
免疫缺陷44,也称为imd44,与疫苗后病毒性感染和风疹相关的原发性免疫缺陷有关。与免疫缺陷44有关的重要基因是STAT2(信号转导和转录激活因子2),其相关通路/超通路包括免疫系统中的细胞因子信号通路和SARS-CoV-2感染通路。相关表型包括脑病和淋巴细胞减少症。 IMD44 – Immunodeficiency 44