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疾病英文名:Primary Immunodeficiency with Post-Measles-Mumps-Rubella Vaccine Viral Infection 疾病分…
疾病英文名:Nik Deficiency 疾病分类:罕见病 血液系统疾病 免疫系统疾病 其他别名:Primary Immunodeficiency with Multifacete…
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胸壁假腱瘤,又称胸壁假腱瘤,与假腱瘤有关。 Chest Wall Parachordoma
原发性醛固酮增多症,家族性,I型,也称为可逆性糖皮质激素性醛固酮增多症,与家族性醛固酮增多症和巴特病有关。与原发性醛固酮增多症,家族性,I型有关的重要基因是CYP11B1(细胞色素P450家族11B成员1),其相关通路/超级通路包括糖基化疾病和类固醇代谢。该病的药物治疗包括糖皮质激素。相关组织包括T细胞和肾脏,相关表型包括高血压和可被地塞米松抑制的原发性醛固酮增多症。 HALD1 – Hyperaldosteronism, Familial, Type I
常染色体单体型,又称常染色体缺失,与全常染色体单体型和部分常染色体单体型有关。附属组织包括髓系和骨髓。 Autosomal Monosomy
cd40 ligand deficiency, also known as hyperimmunoglobulin m syndrome, is related to immunodeficiency with hyper-igm, type 5 and immunodeficiency with hyper-igm, type 2, and has symptoms including diarrhea. an important gene associated with cd40 ligand deficiency is cd40lg (cd40 ligand), and among its related pathways/superpathways are erk signaling and innate immune system. the drugs antibodies and immunoglobulins, intravenous have been mentioned in the context of this disorder. affiliated tissues include spinal cord and t cells, and related phenotypes are reduced mammosphere formation and homeostasis/metabolism. HIGM1 – Cd40 Ligand Deficiency
球形细胞增多症,类型5,又称遗传性球形细胞增多症,类型5,与过敏性疾病和严重联合免疫缺陷有关。与球形细胞增多症,类型5有关的重要基因是EPB42(红细胞膜蛋白带4.2)。相关表型为脾肿大和黄疸 SPH5 – Spherocytosis, Type 5