Noonan Syndrome 1 (NS1)

努南综合征1型(来自ICD-11)

别称:

Noonan Syndrome

Turner Phenotype with Normal Karyotype

Female Pseudo-Turner Syndrome

Male Turner Syndrome

Ns1

Noonan Syndrome with Pigmented Villonodular Synovitis

Turner-Like Syndrome

Noonan Syndrome-Like Disorder with Multiple Giant Cell Lesions

Noonan-Like/multiple Giant Cell Lesion Syndrome

Turner Syndrome in Female with X Chromosome

Turner's Phenotype, Karyotype Normal

Pseudo-Ullrich-Turner Syndrome

Pterygium Colli Syndrome

Familial Turner Syndrome

Ullrich-Noonan Syndrome

Noonan Syndrome, Type 1

Noonan-Ehmke Syndrome

Turner Syndrome, Male

Noonan's Syndrome

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Noonan Syndrome 1，也被称为 Noonan 综合征，与 Noonan 综合征伴有多发性色素沉着和神经纤维瘤-诺曼综合征有关。与 Noonan Syndrome 1 有关的重要基因是 PTPN11（非受体酪氨酸磷酸酶11），其相关通路/超级通路包括传染性疾病和滑膜成纤维细胞的凋亡通路。在该疾病的背景下提到了辛伐他汀和激素拮抗剂。附属组织包括心脏和骨骼，相关表型包括眼睑下垂和言语障碍。

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