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疾病英文名:Goiter, Multinodular, Cystic Renal Disease, and Digital Anomalies 疾病分类:罕见病 致命性疾病 肾脏类…
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多指合并心脏畸形,也被称为鲍尔综合症,与多指、前轴型IV型大动脉转位、右旋心等有关。相关组织包括睾丸和心脏,相关表型包括头面部宽大和鼻孔朝前。 Polysyndactyly with Cardiac Malformation
伪achondroplasia,也称为伪achondroplastic dysplasia,与软骨发育不良、多发性1和软骨病有关,症状包括鸭步和手腕尺偏。与伪achondroplasia相关的基因是COMP(Cartilage Oligomeric Matrix Protein),其相关通路/超级通路包括整合素通路和磷脂酶C通路。在该疾病的背景下,已提到过Resveratrol和血小板聚集抑制剂。附属组织包括骨和骨髓,相关表型是不成比例的短肢短身高和鸭步。 PSACH – Pseudoachondroplasia
Metatropic Dysplasia, also known as metatropic dwarfism, is related to hereditary motor and sensory neuropathy, type iic and spondyloepiphyseal dysplasia, maroteaux type. An important gene associated with Metatropic Dysplasia is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and CREB Pathway. Affiliated tissues include bone and spinal cord, and related phenotypes are scoliosis and kyphosis. MTD – Metatropic Dysplasia
软骨发育不全,也称为软骨发育不全性侏儒症,与软骨发育不全、严重发育迟缓、黑棘皮病和低软骨发育有关。与软骨发育不全相关的基因是FGFR3(成纤维细胞生长因子受体3),其相关通路/超级通路包括ERK信号通路和信号转导通路。在该疾病的背景下,已提到的药物是激素和激素拮药物。附属组织包括骨骼和脊髓,相关表型是腿部弯曲和胸腰段侧凸。 ACH – Achondroplasia
弗林斯综合症,也被称为膈疝、面部异常和远端肢体异常,与智力发育障碍、X连锁、综合征型、卢扬-弗林斯型和卢扬综合症有关,症状包括癫痫发作。与弗林斯综合症有关的重要基因是PIGN(磷脂酰肌酸锚定生物合成类N)。附属组织包括大脑和眼睛,相关表型为智力障碍和高腭。 FRNS – Fryns Syndrome