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疾病英文名:CLOVE - Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi…
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脊柱-骨骺发育不良伴先天性关节脱位,也称为脊柱-骨骺发育不良,与脊柱-骨骺发育不良先天性及伪骨软骨发育不良有关,症状包括鸭步和呼吸困难。与脊柱-骨骺发育不良伴先天性关节脱位有关的重要基因是CHST3(糖基硫酸转移酶3),其相关通路/超级通路包括代谢和疾病。在该疾病的背景下,已提到的药物有洛沙坦和血管紧张素II。相关组织包括骨和心脏,相关表型包括宽头和屈曲挛缩。 SEDCJD – Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations
未分类的自体炎症综合症与儿童未分类的自体炎症综合症有关。附属组织包括骨骼。 Unclassified Autoinflammatory Syndrome
血小板减少症2,也称为thc2,与血小板减少症和放射骨关节融合伴有巨核细胞血小板减少症2有关。与血小板减少症2有关的重要基因是ANKRD26(Ankyrin Repeat Domain Containing 26)。附属组织包括骨髓和骨,相关表型为血小板减少症和巨核细胞集落形成单位计数增加。 THC2 – Thrombocytopenia 2
Diamond-Blackfan Anemia 3,也被称为dba3,与第7型周期性眩晕症和II型家族性进行性心律失常有关。与Diamond-Blackfan Anemia 3相关的基因是RPS24(核糖体蛋白S24),其相关通路/超级通路包括化学突触的传递和心脏传导。相关组织包括骨髓和骨,相关表型包括颈部蹼状和红细胞腺苷脱氨酶水平升高。 DBA3 – Diamond-Blackfan Anemia 3
Aicardi-Goutieres Syndrome, also known as Aicardi-Goutieres Syndrome 1 and Aicardi-Goutieres Syndrome 2, is related to aicardi-goutieres syndrome 1 and aicardi-goutieres syndrome 2, and has symptoms including seizures and petechiae of skin. An important gene associated with Aicardi-Goutieres Syndrome is RNASEH2B (Ribonuclease H2 Subunit B), and among its related pathways/superpathways are SARS-CoV-1-host interactions and DDX58/IFIH1-mediated induction of interferon-alpha/beta. The drugs Abacavir and Lamivudine have been mentioned in the context of this disorder. Affiliated tissues include brain and spinal cord, and related phenotypes are global developmental delay and arrhinencephaly. AGS – Aicardi-Goutieres Syndrome