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疾病英文名:MGC1 - Megalocornea 疾病分类:罕见病 眼科疾病 致命性疾病 其他别名:Isolated Congenital Megalocornea Congen…
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丙戊酸胚胎病,又称胎儿丙戊酸综合征,与视神经发育不全、双侧和七管发育不全有关。与丙戊酸胚胎病有关的重要基因是MARCKSL1(MARCKS Like 1),其相关通路/超级通路包括表皮分化。附属组织包括骨和心脏,相关表型为短鼻和内眦赘。 FVS – Valproate Embryopathy
Oculoectodermal Syndrome, also known as aplasia cutis congenita with epibulbar dermoids, is related to encephalocraniocutaneous lipomatosis and lipomatosis. An important gene associated with Oculoectodermal Syndrome is KRAS (KRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Nervous system development. Affiliated tissues include skin and breast, and related phenotypes are agenesis of corpus callosum and aplasia/hypoplasia of the skin. OES – Oculoectodermal Syndrome
帕默·帕根综合症,也被称为家族性低插入脐带性脑积水,与法洛四联症和隐睾症有关,单侧或双侧。相关表型为内眦赘和尿路异常 Palmer Pagon Syndrome
Galloway-Mowat Syndrome 3,也被称为gamos3,与Galloway-Mowat Syndrome 1和Galloway-Mowat Syndrome有关。与Galloway-Mowat Syndrome 3有关的重要基因是OSGEP(O-Sialoglycoprotein Endopeptidase)。附属组织包括大脑和肾脏,相关表型为智力障碍和癫痫。 GAMOS3 – Galloway-Mowat Syndrome 3
部分性内卷性先天性血管瘤 Partially Involuting Congenital Hemangioma