Trichothiodystrophy 1, Photosensitive (TTD1)

光敏性毛发硫营养障碍1型(来自ICD-11)

别称:

Trichothiodystrophy with Congenital Ichthyosis

Photosensitive Trichothiodystrophy

Ibids Syndrome

Tay Syndrome

Ttd1

Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation

Ichthyosis, Congenital, with Trichothiodystrophy

Photosensitive Trichothiodystrophy 1

Pibids Syndrome

Ttdp

Ichthyosis with Brittle Hair, Intellectual Impairment, Decreased Fertility and Short Stature

Trichothiodystrophy, Type 1, Photosentitive

Sulfur-Deficient Brittle Hair Syndrome

Trichothiodystrophy, Photosensitive

Trichothiodystrophy Photosensitive

Amish Brittle Hair Brain Syndrome

Trichothiodystrophy Syndromes

Tricho-Thiodystrophy Disorder

Trichothiodystrophy, Type 1

Ttd-P

加入收藏

基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

三硫化物脱发症1型，光敏感，又称先天性鱼鳞病伴三硫化物脱发症1型，与三硫化物脱发症2型，光敏感和三硫化物脱发症3型，光敏感有关，症状包括畏光和皮肤干燥。与三硫化物脱发症1型，光敏感相关的基因是ERCC2（ERCC切除修复2，TFIIH核心复合物解旋酶亚基），其相关通路/超级通路包括转录P53信号通路和RNA聚合酶I转录终止。相关组织包括皮肤和大脑，相关表型包括小眼症和突出的耳朵。

查看原文参与反馈