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

Alias:
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
Favorite
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。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X显
X染色体
X隐
孩童期
<1/1000000
3
25
17

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
微信
信息比对
科研助手
使用教程
回到顶部