Ifap Syndrome 1, with or Without Bresheck Syndrome (IFAP1)

IFAP综合征1型伴有或不伴有Bresheck综合征(来自ICD-11)

别称:

Ifap Syndrome with or Without Bresheck Syndrome

Ichthyosis Follicularis, Atrichia, and Photophobia with or Without Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/eye Anomalies, Cleft Palate/cryptorchidism, and Kidney Dysplasia/hypoplasia

Ichthyosis Follicularis Atrichia Photophobia Syndrome

Ifap1

Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear-Eye Anomalies, Cleft Palate-Cryptorchidism, and Kidney Dysplasia-Hypoplasia

Ichthyosis Follicularis-Alopecia-Photophobia Syndrome 1

Ichthyosis Follicularis-Atrichia-Photophobia Syndrome 1

Ichthyosis Follicularis-Atrichia-Photophobia Syndrome

Ifap Syndrome 1 with or Without Bresheck Syndrome

Ifap Syndrome with/without Bresheck Syndrome

Bresheck Syndrome

Ifap Syndrome 1

Bresek 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

如果AP综合症1，伴有或不伴有Bresheck综合症，也被称为如果AP综合症伴有或不伴有Bresheck综合症，与毛囊性鱼鳞病-脱发-畏光综合症和鱼鳞病有关，症状包括癫痫和畏光。Ifap Syndrome 1，伴有或不伴有Bresheck综合症的一个重要基因是MBTPS2（膜结合转录因子肽酶，位点2），其相关通路/超级通路包括检查点调节中的Chks和类固醇代谢。附属组织包括肾脏和大脑，相关表型包括脑积水和全球发育延迟。

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