Catifa Syndrome (CATIFA)

Alias:
Catifa
Cleft Lip, Cataract, Tooth Abnormality, Impaired Intellectual Development, Facial Dysmorphism, and Attention-Deficit Hyperactivity Disorder
Cleft Lip, Cataract, Tooth Abnormality, Intellectual Disability, Facial Dysmorphism, Attention-Deficit Hyperactivity Disorder
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
猫菲氏症,也称为猫菲氏症。与猫菲氏症有关的重要基因是RIC1(RIC1同源物,RAB6A GEF复合物伙伴1)。相关组织包括大脑,相关表型为智力障碍和步态障碍。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
3
2

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