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疾病英文名:RP - Retinitis Pigmentosa 疾病分类:罕见病 骨骼肌类疾病 其它疾病 其他别名:Rp Autosomal Recessive Retinitis…
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Osteopetrosis, Autosomal Recessive 3, also known as osteopetrosis with renal tubular acidosis, is related to endosteal hyperostosis, autosomal dominant and renal tubular acidosis. An important gene associated with Osteopetrosis, Autosomal Recessive 3 is CA2 (Carbonic Anhydrase 2), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Signaling by Receptor Tyrosine Kinases. Affiliated tissues include bone and bone marrow, and related phenotypes are abnormal enzyme/coenzyme activity and osteopetrosis. OPTB3 – Osteopetrosis, Autosomal Recessive 3
类风湿性关节炎间质性肺病,也称为类风湿性肺病,与间质性肺病和肺纤维化有关。与类风湿性关节炎间质性肺病相关的重要基因是MUC5B(粘蛋白5B,寡聚粘液/凝胶形成),其相关通路/超级通路包括细胞因子和炎症反应以及肺纤维化。在该疾病的背景下提到了药物吡非酮和非麻醉性镇痛药。附属组织包括肺和淋巴结。 Rheumatoid Arthritis Interstitial Lung Disease
四肢缺损综合症2,也称为tetams2,与四肢缺损综合症1有关。与四肢缺损综合症2有关的重要基因是RSPO2(R-索蛋白2)。附属组织包括睾丸和肺,相关表型为巨脑症和腭裂 TETAMS2 – Tetraamelia Syndrome 2
线粒体磷酸载体缺陷,也被称为心肌病-肌张力减低-乳酸酸中毒综合征,与心肌病、家族性肥厚性心肌病1和肥厚性心肌病有关。与线粒体磷酸载体缺陷相关的基因是SLC25A3(溶质载体家族25成员3)。关联的组织包括心脏和内皮,相关表型包括肌张力减低和肥厚性心肌病。 MPCD – Mitochondrial Phosphate Carrier Deficiency
进行性眼外肌麻痹伴线粒体DNA缺失,常染色体隐性2型,也称为成人慢性进行性眼外肌麻痹伴线粒体肌病,与线粒体DNA耗竭综合症7和线粒体DNA耗竭综合症有关。与进行性眼外肌麻痹伴线粒体DNA缺失,常染色体隐性2型有关的重要基因是RNASEH1(核糖核酸酶H1)。附属组织包括眼睛和骨骼肌,相关表型为进行性眼外肌麻痹和肢体肌肉无力。 PEOB2 – Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2